second-half.in

ENSG00000173401
GLIPR1L1

28392
256710
ENSG00000212766
LINC00277

26596
283673
ENSG00000056291
NPFFR2

4525
10886
ENSG00000229817
RP11-78H18.2


8899
ENSG00000179468
OR9A2

15093
135924
ENSG00000215568
GAB4

18325
128954
ENSG00000092108
SCFD1

20726
23256
ENSG00000263052
HSPA12A

19022
259217
ENSG00000205850
AL359736.1


542767
ENSG00000163728
TTC14

24697
151613
ENSG00000206142
FAM230C

24482
26080
ENSG00000225781
OR6V1

15090
346517
ENSG00000236461
RP11-523L1.2


101928748
ENSG00000248494
LNX1-AS2

41450
100873955
ENSG00000241472
PTPRG-AS1

44638
100506994
ENSG00000237341
SYP-AS1

40571
100873921
ENSG00000087448
KLHL42

29252
57542
ENSG00000159763
PIP

8993
5304
ENSG00000249341
RP11-317M11.1


100506444
ENSG00000228714
RP11-284G10.1


101928775
ENSG00000179387
ELMOD2

28111
255520
ENSG00000204148
LINC00474

23367
58483
ENSG00000184361
SPATA32

26349
124783
ENSG00000263085
C17orf58

27568
284018
ENSG00000177125
ZBTB34

31446
403341
ENSG00000181374
CCL13

10611
6357
ENSG00000166979
EVA1C

13239
59271
ENSG00000164169
PRMT10

25099
90826
ENSG00000229585
RPL21P44

33820
402176
ENSG00000265269
MIR4311

38207
100422905
ENSG00000266019
MIR3609

38956
100500819
ENSG00000206312
NOTCH4

7884
4855
ENSG00000169100
SLC25A6

10992
293
ENSG00000034533
ASTE1

25021
28990
ENSG00000206366
ZBTB12

19066
221527
ENSG00000186297
GABRA5

4079
2558
ENSG00000102699
PARP4

271
143
ENSG00000164879
CA3

1374
761
ENSG00000242687
AC004893.11


101927550
ENSG00000196639
HRH1

5182
3269
ENSG00000176463
SLCO3A1

10952
28232
ENSG00000265932
MIR3146

38368
100422967
ENSG00000114405
C3orf14

25024
57415
ENSG00000207924
MIR196A2

31568
406973
ENSG00000170180
GYPA
BLOOD GROUP--MN LOCUS
4702
2993
ENSG00000170180
GYPA
MALARIA SUSCEPTIBILITY TO MALARIA RESISTANCE TO INCLUDED
4702
2993
ENSG00000145375
SPATA5
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
18119
166378
ENSG00000145375
SPATA5
EPILEPSY HEARING LOSS AND MENTAL RETARDATION SYNDROME
18119
166378
ENSG00000231003
C6orf25

13937
80739
ENSG00000262472
KPNA2

6395
3838
ENSG00000206120
EGFEM1P

25149
93556
ENSG00000250133
HOXC-AS2

43750
100874364
ENSG00000258752
RP11-356K23.1


101928817
ENSG00000260902
RP11-95M5.1


152274
ENSG00000068323
TFE3
Alveolar soft-tissue sarcoma
11752
7030
ENSG00000068323
TFE3
Epithelioid hemangioendothelioma
11752
7030
ENSG00000068323
TFE3
MiT family translocation renal cell carcinoma
11752
7030
ENSG00000130702
LAMA5

6485
3911
ENSG00000236398
TAS2R39

18886
259285
ENSG00000229105
RP11-264C15.2


100128505
ENSG00000255660
RERG-AS1

39990
100873980
ENSG00000127399
LRRC61

21704
65999
ENSG00000225733
FGD5-AS1

40410
100505641
ENSG00000249581
CLRN2

33939
645104
ENSG00000237125
HAND2-AS1

48872
79804
ENSG00000112304
ACOT13

20999
55856
ENSG00000104093
DMXL2
Polyendocrine-polyneuropathy syndrome
2938
23312
ENSG00000159199
ATP5G1

841
516
ENSG00000172421
EFCAB3

26379
146779
ENSG00000128802
GDF2

4217
2658
ENSG00000002079
MYH16

31038
84176
ENSG00000263762
MIR4286

38186
100422982
ENSG00000179674
ARL14

22974
80117
ENSG00000135519
KCNH3

6252
23416
ENSG00000215070
XRCC6P5

45187
442459
ENSG00000207804
MIR599

32855
693184
ENSG00000180304
OAZ2

8096
4947
ENSG00000216069
MIR875

33652
100126309
ENSG00000104267
CA2
OSTEOPETROSIS AUTOSOMAL RECESSIVE 3
1373
760
ENSG00000104267
CA2
Osteopetrosis with renal tubular acidosis
1373
760
ENSG00000104267
CA2
osteopetrosis autosomal recessive type 3 (OPTB3)
1373
760
ENSG00000107623
GDF10

4215
2662
ENSG00000264712
MIR4504

41624
100616261
ENSG00000235712
RXRB

10478
6257
ENSG00000165097
KDM1B

21577
221656
ENSG00000224379
TCF19

11629
6941
ENSG00000099246
RAB18
WARBURG MICRO SYNDROME 3
14244
22931
ENSG00000099246
RAB18
Micro syndrome
14244
22931
ENSG00000099246
RAB18
Warburg micro syndrome type 3
14244
22931
ENSG00000174099
MSRB3
DEAFNESS AUTOSOMAL RECESSIVE 74
27375
253827
ENSG00000174099
MSRB3
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
27375
253827
ENSG00000163590
PPM1L

16381
151742
ENSG00000221753
MIR1273A

35340
100302165
ENSG00000207268
SNORA70C

33619
100124538
ENSG00000095564
BTAF1

17307
9044
ENSG00000253301
RP11-513O17.2


101929436
ENSG00000253301
RP11-513O17.2


100507651
ENSG00000087494
PTHLH
Brachydactyly type E2
9607
5744
ENSG00000087494
PTHLH
Brachydactyly type E
9607
5744
ENSG00000087494
PTHLH
Clubbing with skeletal dysplasia inc acroosteolysis
9607
5744
ENSG00000207600
MIR598

32854
693183
ENSG00000262747
AMZ2

28041
51321
ENSG00000107036
KIAA1432

17686
57589
ENSG00000188707
ZBED6CL

21720
113763
ENSG00000254839
AF131215.6


101929269
ENSG00000224103
HLA-DPA1

4938
3113
ENSG00000136697
IL1F10

15552
84639
ENSG00000265599
MIR4471

41657
100616451
ENSG00000183770
FOXL2
BLEPHAROPHIMOSIS PTOSIS AND EPICANTHUS INVERSUS TYPE II WITH DUANE RETRACTION SYNDROME
1092
668
ENSG00000183770
FOXL2
PREMATURE OVARIAN FAILURE 3
1092
668
ENSG00000183770
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
1092
668
ENSG00000183770
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
1092
668
ENSG00000183770
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
1092
668
ENSG00000183770
FOXL2
Blepharophimosis ptosis and epicanthus inversus syndrome
1092
668
ENSG00000198879
SFMBT2

20256
57713
ENSG00000233569
RP11-500B12.1


101928797
ENSG00000207653
MIR558

32814
693143
ENSG00000002549
LAP3

18449
51056
ENSG00000265057
MIR4765

41791
100616219
ENSG00000241253
CFB
HEMOLYTIC UREMIC SYNDROME ATYPICAL SUSCEPTIBILITY TO 4
1037
629
ENSG00000241253
CFB
MACULAR DEGENERATION AGE-RELATED 15 SUSCEPTIBILITY TO
1037
629
ENSG00000184992
BRI3BP

14251
140707
ENSG00000214643
DEFB133

31331
403339
ENSG00000236756
DNAJC9-AS1

31432
414245
ENSG00000230876
LINC00486

42946
285045
ENSG00000106538
RARRES2

9868
5919
ENSG00000230720
RP11-14C22.6


101929332
ENSG00000264986
MIR5092

43467
100847039
ENSG00000169093
ASMTL

751
8623
ENSG00000177663
IL17RA
CANDIDIASIS FAMILIAL 5
5985
23765
ENSG00000177663
IL17RA
Familial chronic mucocutaneous candidiasis
5985
23765
ENSG00000242220
TCP10L

11657
140290
ENSG00000229847
EMX2OS

18511
196047
ENSG00000228775
WEE2-AS1

48669
285962
ENSG00000227540
RP11-152N13.5


101929112
ENSG00000167100
SAMD14

27312
201191
ENSG00000225331
AP001055.6


101928576
ENSG00000236854
AL121656.5


100271832
ENSG00000272381
RP11-192P3.4


101929352
ENSG00000240764
PCDHGC5

8718
56097
ENSG00000240764
PCDHGC5

8718
5098
ENSG00000135919
SERPINE2

8951
5270
ENSG00000177684
DEFB114

18095
245928
ENSG00000237036
ZEB1-AS1

42354
101930234
ENSG00000237036
ZEB1-AS1

42354
220930
ENSG00000152766
ANKRD22

28321
118932
ENSG00000182923
CEP63
SECKEL SYNDROME 6
25815
80254
ENSG00000182923
CEP63
Autosomal recessive primary microcephaly
25815
80254
ENSG00000248599
RP11-302J23.1


441374
ENSG00000144026
ZNF514

25894
84874
ENSG00000239345
HNRNPA1P26

39544
3178
ENSG00000156140
ADAMTS3

219
9508
ENSG00000171509
RXFP1

19718
59350
ENSG00000166831
RBPMS2

19098
348093
ENSG00000107816
LZTS2

29381
84445
ENSG00000164209
SLC25A46
Hereditary motor and sensory neuropathy type 6
25198
91137
ENSG00000136828
RALGPS1

16851
9649
ENSG00000100985
MMP9
INTERVERTEBRAL DISC DISEASE SUSCEPTIBILITY TO
7176
4318
ENSG00000100985
MMP9
METAPHYSEAL ANADYSPLASIA 2 AUTOSOMAL RECESSIVE (1 family)
7176
4318
ENSG00000100985
MMP9
Metaphyseal anadysplasia
7176
4318
ENSG00000253614
RP11-513O17.3


286177
ENSG00000227231
IER3

5392
8870
ENSG00000153266
FEZF2

13506
55079
ENSG00000234390
USP27X-AS1

27249
158572
ENSG00000215117
LINC00588

24494
26138
ENSG00000180638
SLC47A2

26439
146802
ENSG00000204335
SP5

14529
389058
ENSG00000247950
SEC24B-AS1

44003
100533182
ENSG00000196960
RP11-192P3.5


100505502
ENSG00000109424
UCP1

12517
7350
ENSG00000108819
PPP1R9B

9298
84687
ENSG00000213639
PPP1CB
Rasopathy with developmental delay short stature and sparse slow-growing hair
9282
5500
ENSG00000207621
MIR224

31604
407009
ENSG00000228787
NLGN4Y-AS1

38793
100874056
ENSG00000206262
C3orf72

34428
401089
ENSG00000230061
AP001065.2


101928607
ENSG00000253871
RP11-756K15.2


101929488
ENSG00000204334
ERICH2

44395
285141
ENSG00000237797
RP11-472N13.3


101930664
ENSG00000237797
RP11-472N13.3


101929951
ENSG00000239649
MYADML

31019
151325
ENSG00000238158
RP11-420L9.4


101927867
ENSG00000167700
MFSD3

25157
113655
ENSG00000124562
SNRPC

11157
6631
ENSG00000207988
MIR576

32832
693161
ENSG00000229356
LRRC3-AS1

43636
100861510
ENSG00000100031
GGT1
GLUTATHIONURIA
4250
728441
ENSG00000100031
GGT1
Gamma-glutamyl transpeptidase deficiency
4250
728441
ENSG00000100031
GGT1
GLUTATHIONURIA
4250
92086
ENSG00000100031
GGT1
Gamma-glutamyl transpeptidase deficiency
4250
92086
ENSG00000100031
GGT1
GLUTATHIONURIA
4250
91227
ENSG00000100031
GGT1
Gamma-glutamyl transpeptidase deficiency
4250
91227
ENSG00000100031
GGT1
GLUTATHIONURIA
4250
2678
ENSG00000100031
GGT1
Gamma-glutamyl transpeptidase deficiency
4250
2678
ENSG00000250411
RP11-257I8.2


101927421
ENSG00000250194
RP11-257I8.1


401397
ENSG00000207753
MIR452

32054
574412
ENSG00000243004
AC005062.2


101927668
ENSG00000228224
NACAP1

24688
83955
ENSG00000206260
PRR23A

37172
729627
ENSG00000089127
OAS1

8086
4938
ENSG00000248846
CTD-2016O11.1


101928741
ENSG00000235925
LY6G6C

13936
80740
ENSG00000079459
FDFT1

3629
2222
ENSG00000197548
ATG7

16935
10533
ENSG00000207260
RNU6-35P

34279
100873750
ENSG00000118514
ALDH8A1

15471
64577
ENSG00000207814
MIR147A

31534
406939
ENSG00000174083
PIK3R6

27101
146850
ENSG00000154265
ABCA5
Gingival fibromatosis-hypertrichosis syndrome
35
23461
ENSG00000112667
DNPH1

21218
10591
ENSG00000250313
RP11-5P22.3


101928769
ENSG00000254024
KB-1562D12.1


101927172
ENSG00000165309
ARMC3

30964
219681
ENSG00000232412
RP1-315G1.3


101928402
ENSG00000246477
AF131216.6


101929290
ENSG00000082153
BZW1

18380
9689
ENSG00000186074
CD300LF

29883
146722
ENSG00000251405
CTB-109A12.1


101927675
ENSG00000205449
NBPF22P

28731
285622
ENSG00000234817
RP3-400B16.1


100507506
ENSG00000159079
C21orf59
Primary ciliary dyskinesia
1301
56683
ENSG00000108702
CCL1

10609
6346
ENSG00000240356
RPL23AP7

17336
118433
ENSG00000182256
GABRG3

4088
2567
ENSG00000183307
CECR6

1844
27439
ENSG00000154316
TDH

15547
157739
ENSG00000266756
MIR5680

43492
100847001
ENSG00000266243
MIR4279

38195
100422874
ENSG00000138134
STAMBPL1

24105
57559
ENSG00000231811
RP3-527G5.1


101927888
ENSG00000234769
WASH4P

14126
102466751
ENSG00000234769
WASH4P

14126
102465909
ENSG00000234769
WASH4P

14126
101930154
ENSG00000234769
WASH4P

14126
100287171
ENSG00000240053
LY6G5B

13931
58496
ENSG00000169398
PTK2

9611
5747
ENSG00000140451
PIF1

26220
80119
ENSG00000207717
MIR551B

32807
693136
ENSG00000237947
RP11-570K4.1


101929535
ENSG00000137462
TLR2
LEPROSY SUSCEPTIBILITY TO 3
11848
7097
ENSG00000169255
B3GALNT1
BLOOD GROUP GLOBOSIDE SYSTEM
918
8706
ENSG00000169255
B3GALNT1
BLOOD GROUP P1PK SYSTEM P(1) PHENOTYPE INCLUDED
918
8706
ENSG00000206282
RGL2

9769
5863
ENSG00000180316
PNPLA1
ICHTHYOSIS CONGENITAL AUTOSOMAL RECESSIVE 10
21246
285848
ENSG00000180316
PNPLA1
Congenital nonbullous ichthyosiform erythroderma
21246
285848
ENSG00000180316
PNPLA1
congenital ichthyosis
21246
285848
ENSG00000091128
LAMB4

6491
22798
ENSG00000207758
MIR532

32795
693124
ENSG00000215961
MIR297

33691
100126354
ENSG00000197322
C17orf102

34412
400591
ENSG00000207768
MIR188

31559
406964
ENSG00000226025
LGALS17A


400696
ENSG00000238184
CD81-AS1

49384
101927682
ENSG00000242268
RP11-368I23.2


100507661
ENSG00000207785
MIR500A

32134
574502
ENSG00000175110
MRPS22
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5
14508
56945
ENSG00000175110
MRPS22
Hypotonia with lactic acidemia and hyperammonemia
14508
56945
ENSG00000152822
GRM1
SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 13
4593
2911
ENSG00000152822
GRM1
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
4593
2911
ENSG00000152822
GRM1
Chondromyxoid fibroma
4593
2911
ENSG00000152822
GRM1
Congenital Cerebellar Ataxia
4593
2911
ENSG00000208015
MIR362

32022
574030
ENSG00000006837
CDKL3

15483
51265
ENSG00000161912
ADCY10P1

44143
221442
ENSG00000211538
MIR501

32135
574503
ENSG00000106258
CYP3A5
Tacrolimus dose selection
2638
1577
ENSG00000071205
ARHGAP10

26099
79658
ENSG00000218803
GSTM2P1

38009
442245
ENSG00000239057
MIR500B

38223
100422911
ENSG00000196954
CASP4

1505
837
ENSG00000207970
MIR660

32916
724030
ENSG00000175348
TMEM9B

1168
56674
ENSG00000130522
JUND

6206
3727
ENSG00000108298
RPL19

10312
6143
ENSG00000272080
MIR502

32136
574504
ENSG00000173338
KCNK7

6282
10089
ENSG00000181291
TMEM132E

26991
124842
ENSG00000236336
RP3-430A16.1


101927913
ENSG00000266721
MIR5695

43548
100847016
ENSG00000211450
C11orf31

18251
280636
ENSG00000229498
AC105053.3


284950
ENSG00000135486
HNRNPA1
Amyotrophic lateral sclerosis
5031
3178
ENSG00000135486
HNRNPA1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
5031
3178
ENSG00000164485
IL22RA2

14901
116379
ENSG00000272142
RP11-428J1.5


100129461
ENSG00000207956
MIR579

32835
693164
ENSG00000182162
P2RY8

15524
286530
ENSG00000214654
RP11-27I1.4


100288842
ENSG00000145428
RNF175

27735
285533
ENSG00000075673
ATP12A

13816
479
ENSG00000075651
PLD1

9067
5337
ENSG00000144306
SCRN3

30382
79634
ENSG00000228128
DDAH2

2716
23564
ENSG00000163064
EN1

3342
2019
ENSG00000223109
MIR1538

35382
100302119
ENSG00000130520
LSM4

17259
25804
ENSG00000255974
CYP2A6
CYTOCHROME P450 SUBFAMILY IIA POLYPEPTIDE 6
2610
1548
ENSG00000235890
TSPEAR-AS1

1271
54082
ENSG00000266779
COPG2

2237
26958
ENSG00000181409
AATK

21
9625
ENSG00000105202
FBL

3599
2091
ENSG00000265083
MIR3691

38909
100500900
ENSG00000181649
PHLDA2

12385
7262
ENSG00000231889
TRAF3IP2-AS1

40005
643749
ENSG00000269985
RP1-232P20.1


101927972
ENSG00000184106
TREML3P

30806
340206
ENSG00000196600
SLC22A25

32935
387601
ENSG00000213860
RPL21P75

36460
100131205
ENSG00000178188
SH2B1
Distal 16p11.2 microdeletion syndrome
30417
25970
ENSG00000178188
SH2B1
Proximal 16p11.2 microdeletion syndrome
30417
25970
ENSG00000178188
SH2B1
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
30417
25970
ENSG00000081760
AACS

21298
65985
ENSG00000120265
PCMT1

8728
5110
ENSG00000206310
C6orf10

13922
10665
ENSG00000234037
RP11-347K2.2


101928436
ENSG00000234037
RP11-347K2.2


101928400
ENSG00000228598
MACC1-AS1

41257
100874041
ENSG00000248279
CTD-2218G20.2


340113
ENSG00000132424
PNISR

21222
25957
ENSG00000226752
PSMD5-AS1

27367
253039
ENSG00000089250
NOS1
Idiopathic achalasia
7872
4842
ENSG00000199262
MIR3607

38900
100500805
ENSG00000109436
TBC1D9

21710
23158
ENSG00000197976
AKAP17A

18783
8227
ENSG00000208772
SNORD94

32756
692225
ENSG00000161980
POLR3K

14121
51728
ENSG00000233834
AC005083.1


100506098
ENSG00000225690
TREML5P

30808
221438
ENSG00000240403
KIR3DL2

6339
727787
ENSG00000240403
KIR3DL2

6339
3812
ENSG00000140557
ST8SIA2

10870
8128
ENSG00000265538
MIR4421

41879
100616189
ENSG00000208017
MIR140

31527
406932
ENSG00000224613
RP11-153F1.1


101928436
ENSG00000224613
RP11-153F1.1


101928400
ENSG00000236519
AL773604.8


101928689
ENSG00000270174
RP1-256G22.2


101927950
ENSG00000188662
HILS1

30616
373861
ENSG00000250544
CTC-493L21.1


100505878
ENSG00000207631
MIR641

32897
693226
ENSG00000234753
RP11-328M4.2


101060264
ENSG00000255389
C6orf3


643749
ENSG00000260625
RP11-452L6.7


101928829
ENSG00000227039
ITGB2-AS1

44304
100505746
ENSG00000265420
MIR4779

41747
100616159
ENSG00000159214
CCDC24

28688
149473
ENSG00000196696
PDXDC2P

27559
283970
ENSG00000265301
MIR548AD

41683
100616475
ENSG00000155324
GRAMD3

24911
65983
ENSG00000124508
BTN2A2

1137
10385
ENSG00000251085
RP11-893F2.6


101927230
ENSG00000099219
ERMP1

23703
79956
ENSG00000221937
TAS2R40

18885
259286
ENSG00000243452
NBPF15

28791
284565
ENSG00000161981
SNRNP25

14161
79622
ENSG00000108424
KPNB1

6400
3837
ENSG00000266494
MIR4641

41835
100616178
ENSG00000164008
C1orf50

28795
100129924
ENSG00000164008
C1orf50

28795
79078
ENSG00000226440
RP11-506B6.6


101927640
ENSG00000130612
CYP2G1P

2633
22952
ENSG00000104983
CCDC61

33629
729440
ENSG00000112308
C6orf62

20998
81688
ENSG00000258909
RP11-164C12.2


100996663
ENSG00000173327
MAP3K11

6850
4296
ENSG00000228363
AC015971.2


101928133
ENSG00000213185
FAM24B

23475
196792
ENSG00000263572
MIR5683

43453
102466866
ENSG00000263572
MIR5683

43453
100847034
ENSG00000258920
FOXN3-AS1

44290
400236
ENSG00000253974
NRG1-IT1

43633
100856811
ENSG00000205056
RP11-693J15.5


100507616
ENSG00000249364
RP11-434D9.1


101928858
ENSG00000215182
MUC5AC

7515
4586
ENSG00000130517
PGPEP1

13568
54858
ENSG00000216863
LY86-AS1

26593
285780
ENSG00000138032
PPM1B
2p21 microdeletion syndrome
9276
5495
ENSG00000250456
AC006552.1


339978
ENSG00000143847
PPFIA4

9248
8497
ENSG00000035141
FAM136A

25911
100287852
ENSG00000035141
FAM136A

25911
84908
ENSG00000258754
CTD-3049M7.1


101927091
ENSG00000258754
CTD-3049M7.1


283682
ENSG00000131236
CAP1

20040
10487
ENSG00000235865
GSN-AS1

23372
57000
ENSG00000215869
RP11-364B6.1


100129138
ENSG00000266097
MIR5192

43473
100847087
ENSG00000104044
OCA2
ALBINISM OCULOCUTANEOUS TYPE II
8101
4948
ENSG00000104044
OCA2
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1
8101
4948
ENSG00000104044
OCA2
Angelman syndrome due to maternal 15q11q13 deletion
8101
4948
ENSG00000104044
OCA2
Oculocutaneous albinism type 2
8101
4948
ENSG00000104044
OCA2
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
8101
4948
ENSG00000104044
OCA2
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
8101
4948
ENSG00000104044
OCA2
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
8101
4948
ENSG00000205176
REXO1L1P

24660
100288562
ENSG00000205176
REXO1L1P

24660
254958
ENSG00000211581
MIR765

33141
768220
ENSG00000237208
RP11-13E5.2


101928495
ENSG00000204485
XX-FW84067D5.1


729516
ENSG00000169282
KCNAB1

6228
7881
ENSG00000128683
GAD1
CEREBRAL PALSY SPASTIC QUADRIPLEGIC 1
4092
2571
ENSG00000128683
GAD1
Inherited congenital spastic tetraplegia
4092
2571
ENSG00000128683
GAD1
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1
4092
2571
ENSG00000254049
NRG1-IT3

43635
100874286
ENSG00000238057
ZEB2-AS1

37149
100303491
ENSG00000223524
REXO1L11P

44434
101929627
ENSG00000223524
REXO1L11P

44434
101929601
ENSG00000223524
REXO1L11P

44434
100288562
ENSG00000255940
REXO1L10P

44433
101929627
ENSG00000255940
REXO1L10P

44433
101929601
ENSG00000255940
REXO1L10P

44433
100288562
ENSG00000226075
PHKG1P1

33916
5260
ENSG00000260192
RP11-756H20.1


101927460
ENSG00000215158
RP11-1023L17.1


100653061
ENSG00000137757
CASP5

1506
838
ENSG00000229597
BTNL2
SARCOIDOSIS SUSCEPTIBILITY TO 2
1142
56244
ENSG00000197448
GSTK1

16906
373156
ENSG00000265919
MIR4280

38334
100422887
ENSG00000147614
ATP6V0D2

18266
245972
ENSG00000196433
ASMT

750
438
ENSG00000230768
RP11-251P6.1


101928476
ENSG00000232606
AC010090.1


101928455
ENSG00000248107
CTC-339D2.1


102546228
ENSG00000235700
CYCSP52

24393
360155
ENSG00000256612
CYP2B7P

2616
1556
ENSG00000204136
GGTA1P

4253
2681
ENSG00000164627
KIF6

21202
221458
ENSG00000223342
RP3-429O6.1


101930126
ENSG00000254607
RP11-115C10.1


101929427
ENSG00000221643
SNORA77

32663
677843
ENSG00000237189
RP11-85G21.2


101928202
ENSG00000258476
RP11-76E17.3


101927153
ENSG00000182771
GRID1

4575
2894
ENSG00000185037
ZNF733P

32473
643955
ENSG00000249700
SRD5A3-AS1

44138
100506462
ENSG00000250107
CACNA1G-AS1

27377
253962
ENSG00000254960
KIRREL3-AS2

42656
100874251
ENSG00000232028
AC007391.2


101929542
ENSG00000069998
CECR5

1843
27440
ENSG00000258785
CTD-2643K12.2


101927129
ENSG00000130513
GDF15

30142
9518
ENSG00000254801
CTD-2132H18.3


114799
ENSG00000230943
RP11-367G18.1


101927686
ENSG00000214022
REPIN1

17922
29803
ENSG00000226674
TEX41

48667
401014
ENSG00000125861
GFRA4

13821
64096
ENSG00000175352
NRIP3

1167
56675
ENSG00000259724
CTD-2643K12.3


101927112
ENSG00000132763
MMACHC
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA cblX TYPE
24525
25974
ENSG00000132763
MMACHC
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA cblC TYPE
24525
25974
ENSG00000132763
MMACHC
Methylmalonic acidemia with homocystinuria type cblC
24525
25974
ENSG00000141644
MBD1

6916
4152
ENSG00000215156
RP11-1023L17.2


646652
ENSG00000214642
DEFB113

18094
245927
ENSG00000187808
SOWAHD

32960
347454
ENSG00000212076
MIR761

37305
100313892
ENSG00000267519
MIR24-2

31608
407013
ENSG00000267519
MIR24-2

31608
284454
ENSG00000124140
SLC12A5
Malignant migrating partial seizures of infancy
13818
57468
ENSG00000124140
SLC12A5
Febrile seizures
13818
57468
ENSG00000221737
MIR548I1

35352
100302204
ENSG00000203795
FAM24A

23470
118670
ENSG00000207808
MIR27A

31613
407018
ENSG00000198918
RPL39

10350
6170
ENSG00000151923
TIAL1

11804
7073
ENSG00000227502
RP1-249H1.4


285758
ENSG00000145423
SFRP2

10777
6423
ENSG00000260989
LA16c-395F10.2


101929458
ENSG00000224227
OR2L1P

8265
26247
ENSG00000146426
TIAM2

11806
26230
ENSG00000203970
DEFB110

18091
245913
ENSG00000207980
MIR23A

31605
407010
ENSG00000221817
RP11-137L10.6


101929145
ENSG00000250821
RP11-345F18.1


644145
ENSG00000104112
SCG3

13707
29106
ENSG00000207613
MIR181C

31552
406957
ENSG00000164161
HHIP
STATURE QUANTITATIVE TRAIT LOCUS 13
14866
64399
ENSG00000175967
RP11-544L8__B.4


285759
ENSG00000163806
SPDYA

30613
245711
ENSG00000207585
MIR181D

32089
574457
ENSG00000237803
LINC00211

37459
101929559
ENSG00000261399
LA16c-329F2.1


101929480
ENSG00000175147
TMEM51-AS1

26301
200197
ENSG00000007384
RHBDF1

20561
64285
ENSG00000136859
ANGPTL2

490
23452
ENSG00000231609
AC009501.4


100132215
ENSG00000266215
MIR3167

38242
100422918
ENSG00000237686
RP5-1120P11.1


101929705
ENSG00000189325
C6orf222

33769
389384
ENSG00000265820
MIR3177

38364
100423012
ENSG00000246174
KCTD21-AS1

48674
100289388
ENSG00000131504
DIAPH1
DEAFNESS AUTOSOMAL DOMINANT 17
2876
1729
ENSG00000131504
DIAPH1
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
2876
1729
ENSG00000131504
DIAPH1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
2876
1729
ENSG00000219294
PIP5K1P1

28372
206426
ENSG00000175489
LRRC25

29806
126364
ENSG00000218109
KIRREL3-AS3

26855
283165
ENSG00000177233
OR2M1P

8267
388762
ENSG00000249532
MIR302B

31763
442894
ENSG00000231881
RP5-1120P11.3


101929683
ENSG00000272323
CTD-2517O10.6


101929704
ENSG00000259947
XX-DJ76P10__A.2


101929501
ENSG00000228624
RP3-399L15.3


101927794
ENSG00000228624
RP3-399L15.3


101927768
ENSG00000267169
CTB-55O6.12


100507373
ENSG00000255020
AF131216.5


100129129
ENSG00000260521
CTD-2576F9.1


440311
ENSG00000230561
CTC-228N24.1


728586
ENSG00000230489
VAV3-AS1

40608
100873946
ENSG00000262179
RP1-302G2.5


101929726
ENSG00000235848
RMDN2-AS1

41150
101410544
ENSG00000251164
HULC

34232
728655
ENSG00000231666
RP11-404O13.1


646268
ENSG00000250929
KB-1639H6.4


379034
ENSG00000233485
RP3-467K16.2


101927417
ENSG00000199169
MIR367

31781
442912
ENSG00000199145
MIR302D

31765
442896
ENSG00000230939
RP11-314C16.1


100506207
ENSG00000265657
MIR3151

38266
100422992
ENSG00000168314
MOBP

7189
4336
ENSG00000147613
PSKH2

18997
85481
ENSG00000207927
MIR302A

31623
407028
ENSG00000230550
RP11-74C13.3


101929441
ENSG00000199102
MIR302C

31764
442895
ENSG00000251323
RP11-452H21.4


101928865
ENSG00000265700
MIR4647

41594
100616124
ENSG00000206525
OR2W1

8281
26692
ENSG00000235960
TRIM15

16284
89870
ENSG00000248441
CTD-2536I1.1


400456
ENSG00000238122
RP11-483I13.2


400768
ENSG00000266619
MIR4642

41865
100616352
ENSG00000247081
RP11-318M2.2


101927343
ENSG00000247081
RP11-318M2.2


100499183
ENSG00000149742
SLC22A9

16261
114571
ENSG00000071054
MAP4K4

6866
9448
ENSG00000207291
RNU6-30P

34274
100873747
ENSG00000255084
RP11-843A23.1


101928896
ENSG00000206524
OR2B3

8238
442184
ENSG00000232973
CYP1B1-AS1

28543
285154
ENSG00000008438
PGLYRP1

8904
8993
ENSG00000159202
UBE2Z

25847
65264
ENSG00000117450
PRDX1

9352
5052
ENSG00000207769
MIR586

32842
693171
ENSG00000157800
SLC37A3

20651
84255
ENSG00000180872
DEFB112

18093
245915
ENSG00000160957
RECQL4
BALLER-GEROLD SYNDROME
9949
9401
ENSG00000160957
RECQL4
RAPADILINO SYNDROME
9949
9401
ENSG00000160957
RECQL4
Rothmund-Thomson syndrome type 2
9949
9401
ENSG00000160957
RECQL4
ROTHMUND-THOMSON SYNDROME
9949
9401
ENSG00000174775
HRAS
Bladder Cancer
5173
3265
ENSG00000174775
HRAS
COSTELLO SYNDROME
5173
3265
ENSG00000174775
HRAS
SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME SOMATIC MOSAIC
5173
3265
ENSG00000174775
HRAS
THYROID CARCINOMA HURTHLE CELL
5173
3265
ENSG00000174775
HRAS
Differentiated thyroid carcinoma
5173
3265
ENSG00000174775
HRAS
Linear nevus sebaceus syndrome
5173
3265
ENSG00000174775
HRAS
Phakomatosis pigmentokeratotica
5173
3265
ENSG00000174775
HRAS
Woolly hair nevus
5173
3265
ENSG00000174775
HRAS
congenital myopathy with excess of muscle spindles (CMEMS)
5173
3265
ENSG00000145740
SLC30A5

19089
64924
ENSG00000206522
OR2J3
C3HEX ABILITY TO SMELL
8261
442186
ENSG00000259134
LINC00924

27081
145820
ENSG00000178026
FAM211B

33155
388886
ENSG00000251239
CTB-22K21.2


101927253
ENSG00000245067
IGFBP7-AS1

40296
255130
ENSG00000232694
XX-CR54.3


646627
ENSG00000234746
OR2J2

8260
26707
ENSG00000027697
IFNGR1
ATYPICAL MYCOBACTERIOSIS FAMILIAL X-LINKED 1
5439
3459
ENSG00000027697
IFNGR1
HELICOBACTER PYLORI INFECTION SUSCEPTIBILITY TO
5439
3459
ENSG00000027697
IFNGR1
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
5439
3459
ENSG00000027697
IFNGR1
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
5439
3459
ENSG00000027697
IFNGR1
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
5439
3459
ENSG00000205531
NAP1L4

7640
4676
ENSG00000255345
CTD-2337I7.1


101928921
ENSG00000170983
LINC00208

15535
83655
ENSG00000266159
TSGA13

12369
114960
ENSG00000224399
SLC39A7

4927
7922
ENSG00000206308
HLA-DRA
HEPATITIS B VIRUS SUSCEPTIBILITY TO
4947
3122
ENSG00000124019
FAM124B

26224
79843
ENSG00000147144
CCDC120

28910
90060
ENSG00000008197
TFAP2D

15581
83741
ENSG00000204869
IGFL4

32931
444882
ENSG00000197136
PCNXL3

18760
399909
ENSG00000166226
CCT2

1615
10576
ENSG00000229950
TFAP2A-AS1

40579
100130275
ENSG00000220550
OR10C1

8165
442194
ENSG00000236466
RP11-795J1.1


101926898
ENSG00000264500
MIR3124

38262
100422879
ENSG00000254139
CTD-2339F6.1


286178
ENSG00000205837
LINC00487

42947
400941
ENSG00000177868
CCDC23

29204
374969
ENSG00000245937
CTC-228N24.3


101930640
ENSG00000245937
CTC-228N24.3


101929964
ENSG00000245937
CTC-228N24.3


644873
ENSG00000169084
DHRSX

18399
207063
ENSG00000174788
PCP2

30209
126006
ENSG00000136689
IL1RN
MICROVASCULAR COMPLICATIONS OF DIABETES SUSCEPTIBILITY TO 4
6000
3557
ENSG00000136689
IL1RN
Osteomyelitis sterile multifocal with periostitis and pustulosis
6000
3557
ENSG00000136689
IL1RN
Sterile multifocal osteomyelitis with periostitis and pustulosis
6000
3557
ENSG00000102977
ACD
Familial melanoma
25070
65057
ENSG00000102977
ACD
Hereditary isolated aplastic anemia
25070
65057
ENSG00000102977
ACD
HOYERAAL-HREIDARSSON SYNDROME
25070
65057
ENSG00000242973
RP11-446F17.3


101926934
ENSG00000248505
RP11-319E12.1


101928851
ENSG00000247809
NR2F2-AS1

44222
644192
ENSG00000188624
IGFL3

32930
388555
ENSG00000207957
MIR105-1

31492
406897
ENSG00000210082
MT-RNR2

7471
100616263
ENSG00000206517
OR11A1

8176
26531
ENSG00000198526
PABPC1P2

8559
728773
ENSG00000183674
LINC00518

28626
221718
ENSG00000198888
MT-ND1
ALZHEIMER DISEASE SUSCEPTIBILITY TO MITOCHONDRIAL
7455
4535
ENSG00000198888
MT-ND1
LEBER OPTIC ATROPHY
7455
4535
ENSG00000198888
MT-ND1
MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES
7455
4535
ENSG00000198888
MT-ND1
Muscle Weakness and Isolated Complex I Deficiency
7455
4535
ENSG00000198888
MT-ND1
Leber hereditary optic neuropathy
7455
4535
ENSG00000198888
MT-ND1
Parkinsonism/MELAS overlap syndrome
7455
4535
ENSG00000198888
MT-ND1
Maternally-inherited Leigh syndrome
7455
4535
ENSG00000143971
ETAA1

24648
54465
ENSG00000225730
RP3-365O12.2


101926962
ENSG00000249748
RP11-79C6.3


100506406
ENSG00000179743
RP11-169K16.9


729614
ENSG00000211583
MIR767

33136
768215
ENSG00000198763
MT-ND2
ALZHEIMER DISEASE SUSCEPTIBILITY TO MITOCHONDRIAL
7456
4536
ENSG00000198763
MT-ND2
LEBER OPTIC ATROPHY
7456
4536
ENSG00000198763
MT-ND2
Muscle Weakness and Isolated Complex I Deficiency
7456
4536
ENSG00000198763
MT-ND2
Leber hereditary optic neuropathy
7456
4536
ENSG00000198763
MT-ND2
Maternally-inherited Leigh syndrome
7456
4536
ENSG00000237548
TTLL11-IT1

24214
401550
ENSG00000207818
MIR105-2

31493
406898
ENSG00000159314
ARHGAP27

31813
201176
ENSG00000198077
CYP2A7

2611
1549
ENSG00000198077
CYP2A7

2611
1548
ENSG00000149451
ADAM33
ASTHMA SUSCEPTIBILITY TO
15478
80332
ENSG00000198804
MT-CO1
Colorectal Cancer
7419
4512
ENSG00000198804
MT-CO1
Deafness nonsyndromic sensorineural mitochondrial
7419
4512
ENSG00000198804
MT-CO1
LEBER OPTIC ATROPHY
7419
4512
ENSG00000198804
MT-CO1
MITOCHONDRIAL COMPLEX IV DEFICIENCY
7419
4512
ENSG00000198804
MT-CO1
Myoglobinuria recurrent
7419
4512
ENSG00000198804
MT-CO1
Genetic recurrent myoglobinuria
7419
4512
ENSG00000198804
MT-CO1
Isolated cytochrome C oxidase deficiency
7419
4512
ENSG00000198804
MT-CO1
Leber hereditary optic neuropathy
7419
4512
ENSG00000198804
MT-CO1
Parkinsonism/MELAS overlap syndrome
7419
4512
ENSG00000198804
MT-CO1
Mitochondrial non-syndromic sensorineural deafness
7419
4512
ENSG00000198804
MT-CO1
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
7419
4512
ENSG00000207756
MIR580

32836
693165
ENSG00000264834
MIR1273F

41733
100616156
ENSG00000266583
MIR4478

41759
100616312
ENSG00000266188
MIR5095

41849
100616458
ENSG00000197410
DCHS2

23111
54798
ENSG00000198712
MT-CO2
MITOCHONDRIAL COMPLEX IV DEFICIENCY
7421
4513
ENSG00000198712
MT-CO2
Isolated cytochrome C oxidase deficiency
7421
4513
ENSG00000198712
MT-CO2
Parkinsonism/MELAS overlap syndrome
7421
4513
ENSG00000226235
LEMD1-AS1

44132
284576
ENSG00000265815
MIR1273G

41684
100616145
ENSG00000228253
MT-ATP8
ATP SYNTHASE 8
7415
4509
ENSG00000228253
MT-ATP8
Isolated ATP synthase deficiency
7415
4509
ENSG00000228253
MT-ATP8
KEARNS-SAYRE SYNDROME
7415
4509
ENSG00000228253
MT-ATP8
Periodic paralysis with later-onset distal motor neuropathy
7415
4509
ENSG00000054654
SYNE2
Emery-dreifuss muscular dystrophy 5 autosomal dominant
17084
23224
ENSG00000054654
SYNE2
Autosomal dominant Emery-Dreifuss muscular dystrophy
17084
23224
ENSG00000198899
MT-ATP6
ATP SYNTHASE 6
7414
4508
ENSG00000198899
MT-ATP6
LEBER OPTIC ATROPHY
7414
4508
ENSG00000198899
MT-ATP6
Leigh syndrome
7414
4508
ENSG00000198899
MT-ATP6
NEUROPATHY ATAXIA AND RETINITIS PIGMENTOSA
7414
4508
ENSG00000198899
MT-ATP6
Striatonigral degeneration infantile mitochondrial
7414
4508
ENSG00000198899
MT-ATP6
Familial infantile bilateral striatal necrosis
7414
4508
ENSG00000198899
MT-ATP6
Isolated ATP synthase deficiency
7414
4508
ENSG00000198899
MT-ATP6
Leber hereditary optic neuropathy
7414
4508
ENSG00000198899
MT-ATP6
Maternally-inherited Leigh syndrome
7414
4508
ENSG00000198899
MT-ATP6
Maternally-inherited spastic paraplegia
7414
4508
ENSG00000198899
MT-ATP6
NARP syndrome
7414
4508
ENSG00000198899
MT-ATP6
Periodic paralysis with later-onset distal motor neuropathy
7414
4508
ENSG00000071246
VASH1

19964
22846
ENSG00000199059
MIR135B

31760
442891
ENSG00000205035
RP11-707M1.1


440040
ENSG00000019169
MARCO

6895
8685
ENSG00000198938
MT-CO3
LEBER OPTIC ATROPHY
7422
4514
ENSG00000198938
MT-CO3
MITOCHONDRIAL COMPLEX IV DEFICIENCY
7422
4514
ENSG00000198938
MT-CO3
Myoglobinuria recurrent
7422
4514
ENSG00000198938
MT-CO3
Genetic recurrent myoglobinuria
7422
4514
ENSG00000198938
MT-CO3
Isolated cytochrome C oxidase deficiency
7422
4514
ENSG00000198938
MT-CO3
Leber hereditary optic neuropathy
7422
4514
ENSG00000198938
MT-CO3
Parkinsonism/MELAS overlap syndrome
7422
4514
ENSG00000206516
OR2H1

8252
26716
ENSG00000224717
RP11-576D8.4


284577
ENSG00000183675
PTPN20B

23423
101930271
ENSG00000183675
PTPN20B

23423
653129
ENSG00000183675
PTPN20B

23423
26095
ENSG00000263705
MIR5689

43479
100846998
ENSG00000159082
SYNJ1
Atypical juvenile parkinsonism
11503
8867
ENSG00000159082
SYNJ1
Undetermined early-onset epileptic encephalopathy
11503
8867
ENSG00000224698
RP11-131J3.1


400768
ENSG00000198840
MT-ND3
Leigh syndrome
7458
4537
ENSG00000198840
MT-ND3
MITOCHONDRIAL COMPLEX I DEFICIENCY
7458
4537
ENSG00000198840
MT-ND3
Muscle Weakness and Isolated Complex I Deficiency
7458
4537
ENSG00000198840
MT-ND3
Leber plus disease
7458
4537
ENSG00000198840
MT-ND3
Maternally-inherited Leigh syndrome
7458
4537
ENSG00000233436
BTBD18

37214
643376
ENSG00000263746
MIR4277

38367
100422966
ENSG00000164308
ERAP2

29499
64167
ENSG00000212907
MT-ND4L
LEBER OPTIC ATROPHY
7460
4539
ENSG00000212907
MT-ND4L
Leber hereditary optic neuropathy
7460
4539
ENSG00000250451
HOXC-AS1

43749
100874363
ENSG00000234880
LINC00163

33165
727699
ENSG00000198886
MT-ND4
LEBER OPTIC ATROPHY
7459
4538
ENSG00000198886
MT-ND4
LEBER OPTIC ATROPHY AND DYSTONIA
7459
4538
ENSG00000198886
MT-ND4
MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES
7459
4538
ENSG00000198886
MT-ND4
Leber hereditary optic neuropathy
7459
4538
ENSG00000198886
MT-ND4
Leber plus disease
7459
4538
ENSG00000198886
MT-ND4
Parkinsonism/MELAS overlap syndrome
7459
4538
ENSG00000198886
MT-ND4
Maternally-inherited Leigh syndrome
7459
4538
ENSG00000198886
MT-ND4
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
7459
4538
ENSG00000186163
U66059.29


730441
ENSG00000231056
RP1-290I10.5


101928106
ENSG00000255087
RP11-168K9.2


101929473
ENSG00000237685
RP11-360O19.4


101928124
ENSG00000198786
MT-ND5
LEBER OPTIC ATROPHY
7461
4540
ENSG00000198786
MT-ND5
Leigh syndrome
7461
4540
ENSG00000198786
MT-ND5
MITOCHONDRIAL COMPLEX I DEFICIENCY
7461
4540
ENSG00000198786
MT-ND5
MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES
7461
4540
ENSG00000198786
MT-ND5
Leber hereditary optic neuropathy
7461
4540
ENSG00000198786
MT-ND5
Parkinsonism/MELAS overlap syndrome
7461
4540
ENSG00000198786
MT-ND5
MERRF
7461
4540
ENSG00000198786
MT-ND5
Maternally-inherited Leigh syndrome
7461
4540
ENSG00000118508
RAB32

9772
10981
ENSG00000214717
ZBED1

447
9189
ENSG00000198695
MT-ND6
LEBER OPTIC ATROPHY
7462
4541
ENSG00000198695
MT-ND6
LEBER OPTIC ATROPHY AND DYSTONIA
7462
4541
ENSG00000198695
MT-ND6
MITOCHONDRIAL COMPLEX I DEFICIENCY
7462
4541
ENSG00000198695
MT-ND6
MITOCHONDRIAL MYOPATHY ENCEPHALOPATHY LACTIC ACIDOSIS AND STROKE-LIKE EPISODES
7462
4541
ENSG00000198695
MT-ND6
Leber hereditary optic neuropathy
7462
4541
ENSG00000198695
MT-ND6
Leber plus disease
7462
4541
ENSG00000198695
MT-ND6
Parkinsonism/MELAS overlap syndrome
7462
4541
ENSG00000198695
MT-ND6
Maternally-inherited Leigh syndrome
7462
4541
ENSG00000163626
COX18

26801
285521
ENSG00000253281
RP11-716D16.1


101929528
ENSG00000257115
OR11H12

30738
440153
ENSG00000257115
OR11H12

30738
79334
ENSG00000198727
MT-CYB
CARDIOMYOPATHY INFANTILE HISTIOCYTOID
7427
4519
ENSG00000198727
MT-CYB
LEBER OPTIC ATROPHY
7427
4519
ENSG00000198727
MT-CYB
Histiocytoid cardiomyopathy
7427
4519
ENSG00000198727
MT-CYB
Isolated CoQ-cytochrome C reductase deficiency
7427
4519
ENSG00000198727
MT-CYB
Leber hereditary optic neuropathy
7427
4519
ENSG00000237021
RP3-486I3.7


100506496
ENSG00000224930
LINC00162

19725
378825
ENSG00000177640
CASC2

22933
255082
ENSG00000265429
MIR4782

41635
100616208
ENSG00000203897
SPATA42

41198
642864
ENSG00000272097
RP11-421M1.8


100506379
ENSG00000170153
RNF150

23138
57484
ENSG00000273409
RP11-480C22.1


101929497
ENSG00000184571
PIWIL3

18443
440822
ENSG00000267147
CTC-548K16.1


101928845
ENSG00000247828
TMEM161B-AS1

43839
100505894
ENSG00000250417
CTD-2194D22.2


101929034
ENSG00000272781
MDGA2


161357
ENSG00000228857
AC104653.1


101060091
ENSG00000227959
RP11-276H7.2


101927479
ENSG00000196531
NACA

7629
4666
ENSG00000068831
RASGRP2
Bleeding disorder due to CalDAG-GEFI deficiency
9879
10235
ENSG00000258664
IFRG15


163590
ENSG00000226754
RP5-1024G6.5


100507564
ENSG00000206357
NELFE

13974
100302242
ENSG00000206357
NELFE

13974
7936
ENSG00000196517
SLC6A9
Atypical glycine encephalopathy
11056
6536
ENSG00000196517
SLC6A9
Infantile glycine encephalopathy
11056
6536
ENSG00000196517
SLC6A9
Glycine Encephalopathy with Arthrogryposis
11056
6536
ENSG00000206515
MAS1L

13961
116511
ENSG00000164010
ERMAP
BLOOD GROUP--SCIANNA SYSTEM
15743
114625
ENSG00000164010
ERMAP
RADIN BLOOD GROUP ANTIGEN
15743
114625
ENSG00000222036
POTEG

33896
728378
ENSG00000222036
POTEG

33896
653781
ENSG00000222036
POTEG

33896
653269
ENSG00000222036
POTEG

33896
445582
ENSG00000222036
POTEG

33896
404785
ENSG00000231079
AC105402.4


101928553
ENSG00000222651
MIR1469

35378
100302258
ENSG00000207707
MIR639

32895
693224
ENSG00000257252
RP11-486A14.2


643339
ENSG00000225670
CTA-134P22.2


100131825
ENSG00000230314
ELOVL2-AS1

44156
100506409
ENSG00000237276
ANO7P1

32248
101927507
ENSG00000196656
AC004057.1


441502
ENSG00000171858
RPS21

10409
6227
ENSG00000076944
STXBP2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS FAMILIAL 5
11445
6813
ENSG00000076944
STXBP2
Familial hemophagocytic lymphohistiocytosis
11445
6813
ENSG00000232084
LINC01104

49226
150577
ENSG00000206811
SNORA10

32598
574042
ENSG00000175356
SCUBE2

30425
57758
ENSG00000223639
CLIC1

2062
1192
ENSG00000207405
SNORA64

10221
26784
ENSG00000254588
RP11-1007G5.2


101929517
ENSG00000228203
RNF144A-AS1

30963
386597
ENSG00000140280
LYSMD2

28571
256586
ENSG00000108823
SGCA
MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2D
10805
6442
ENSG00000108823
SGCA
Autosomal recessive limb-girdle muscular dystrophy type 2D
10805
6442
ENSG00000261614
YBX3P1

2429
440359
ENSG00000259073
FOXN3-AS2

30119
29018
ENSG00000234199
AC010982.1


440900
ENSG00000273046
RP11-834C11.14


3222
ENSG00000197223
C1D

29911
10438
ENSG00000141750
STAC2

23990
342667
ENSG00000255198
SNHG9

33102
677844
ENSG00000248174
RP11-148L24.1


101928509
ENSG00000164542
KIAA0895

22206
23366
ENSG00000196101
HLA-DRB3

4951
3125
ENSG00000232357
HSD17B8

3554
7923
ENSG00000207571
MIR615

32871
693200
ENSG00000270066
SCARNA2

32558
677766
ENSG00000101782
RIOK3

11451
8780
ENSG00000248265
RP11-834C11.3


440101
ENSG00000155508
CNOT8

9207
9337
ENSG00000002586
CD99

7082
4267
ENSG00000124795
DEK
Acute myeloid leukemia with t(6;9)(p23;q34)
2768
7913
ENSG00000235009
AC093822.1


100996902
ENSG00000187778
MCRS1

6960
10445
ENSG00000236253
SLC25A3P1

26869
163742
ENSG00000203827
NBPF16

31996
728936
ENSG00000265846
MIR4276

38232
100423042
ENSG00000250654
RP11-834C11.7


101928930
ENSG00000250654
RP11-834C11.7


101928102
ENSG00000250654
RP11-834C11.7


100240735
ENSG00000239039
SNORD13

32711
692084
ENSG00000243279
PRAF2

28911
11230
ENSG00000188612
SUMO2

11125
101929087
ENSG00000188612
SUMO2

11125
6612
ENSG00000188612
SUMO2

11125
6613
ENSG00000242599
CSAG4

20923
100130935
ENSG00000207709
MIR197

31569
406974
ENSG00000221656
MIR1225

33931
100188847
ENSG00000096384
HSP90AB1

5258
3326
ENSG00000168004
HRASLS5

24978
117245
ENSG00000248587
GDNF-AS1

43592
100861519
ENSG00000122180
MYOG

7612
4656
ENSG00000132972
RNF17

10060
56163
ENSG00000238074
TSPY6P

34039
7258
ENSG00000231538
DPP10-AS3

40939
101927591
ENSG00000167912
RP11-25K19.1


100505501
ENSG00000117448
AKR1A1

380
10327
ENSG00000131797
CLUHP3

28447
100132341
ENSG00000233208
LINC00642

44293
400238
ENSG00000249326
CTD-2194D22.4


101929081
ENSG00000138100
TRIM54

16008
57159
ENSG00000169075
BRD7P3

24171
23629
ENSG00000080947
CROCCP3

29405
114819
ENSG00000265867
MIR4516

41617
101927469
ENSG00000265867
MIR4516

41617
100616258
ENSG00000264397
MIR3180-5

38969
100500916
ENSG00000163235
TGFA
Oligodontia
11765
7039
ENSG00000260260
RP11-304L19.5


100507303
ENSG00000235026
DPP10-AS1

40941
389023
ENSG00000269821
KCNQ1OT1
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
6295
101927338
ENSG00000269821
KCNQ1OT1
Isolated hemihyperplasia
6295
101927338
ENSG00000269821
KCNQ1OT1
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
6295
10984
ENSG00000269821
KCNQ1OT1
Isolated hemihyperplasia
6295
10984
ENSG00000264208
MIR4781

41769
100616315
ENSG00000136895
GARNL3

25425
84253
ENSG00000206630
SNORD60

10217
26788
ENSG00000251174
TSEN2P1

43965
80746
ENSG00000183354
KIAA2026

23378
158358
ENSG00000214285
NPS

33940
594857
ENSG00000204228
HSD17B8

3554
7923
ENSG00000249388
RP11-834C11.6


100240734
ENSG00000225549
RP11-210H10__A.1


100287632
ENSG00000212447
SNORD90

32751
692206
ENSG00000226097
AC099342.1


101927769
ENSG00000237941
KCNQ1DN

13335
55539
ENSG00000250432
RP11-834C11.5


101930560
ENSG00000234015
RP11-125M16.1


101928309
ENSG00000103152
MPG

7211
4350
ENSG00000264684
MIR4773-2

41790
100616418
ENSG00000264684
MIR4773-2

41790
100616392
ENSG00000264684
MIR4773-2

41699
100616418
ENSG00000264684
MIR4773-2

41699
100616392
ENSG00000262877
RP11-1055B8.4


100507520
ENSG00000242412
DBIL5P2

38518
100169989
ENSG00000146216
TTBK1

19140
84630
ENSG00000261094
RP11-355O1.11


101928954
ENSG00000161328
LRRC56

25430
115399
ENSG00000207931
MIR577

32833
693162
ENSG00000207982
MIR548B

32799
693128
ENSG00000207008
SNORA54

32647
677833
ENSG00000186766
FOXI2

32448
399823
ENSG00000164893
SLC7A13

23092
157724
ENSG00000212102
MIR301B

33667
100126318
ENSG00000163485
ADORA1

262
134
ENSG00000224989
FAM41AY1

23955
100302526
ENSG00000224989
FAM41AY1

23955
340618
ENSG00000235122
RP3-417L20.4


101927020
ENSG00000207751
MIR130B

31515
406920
ENSG00000118492
ADGB

21212
79747
ENSG00000224965
KCNC4-AS1

39958
100873974
ENSG00000226707
RP11-719J20.1


101927048
ENSG00000226733
RP11-397G17.1


100505985
ENSG00000248461
CTD-2207A17.1


101929745
ENSG00000244342
LINC00698

27720
285401
ENSG00000227963
RP5-1074L1.1


440600
ENSG00000266392
MIR4740

41711
100616294
ENSG00000208032
MIR548A3

32798
693127
ENSG00000181852
RNF41

18401
10193
ENSG00000266189
MIR3186

38311
100422944
ENSG00000248730
EGFLAM-AS4

41166
100852408
ENSG00000249352
7SK


101928885
ENSG00000265725
MIR3144

38331
100422951
ENSG00000180745
CLRN3

20795
119467
ENSG00000128872
TMOD2

11872
29767
ENSG00000213445
SIPA1

10885
6494
ENSG00000245812
RP11-175K6.1


101927740
ENSG00000236424
TSPY10

37473
100289087
ENSG00000236424
TSPY10

37473
728137
ENSG00000236424
TSPY10

37473
7258
ENSG00000197549
PRAMENP

34302
649179
ENSG00000236301
MRGPRG-AS1

26691
283303
ENSG00000137752
CASP1

1499
834
ENSG00000132141
CCT6B

1621
10693
ENSG00000206306
HLA-DRB1
HEPATITIS C VIRUS SUSCEPTIBILITY TO
4948
100996809
ENSG00000206306
HLA-DRB1
SARCOIDOSIS SUSCEPTIBILITY TO 1
4948
100996809
ENSG00000206306
HLA-DRB1
HEPATITIS C VIRUS SUSCEPTIBILITY TO
4948
100507714
ENSG00000206306
HLA-DRB1
SARCOIDOSIS SUSCEPTIBILITY TO 1
4948
100507714
ENSG00000206306
HLA-DRB1
HEPATITIS C VIRUS SUSCEPTIBILITY TO
4948
100507709
ENSG00000206306
HLA-DRB1
SARCOIDOSIS SUSCEPTIBILITY TO 1
4948
100507709
ENSG00000206306
HLA-DRB1
HEPATITIS C VIRUS SUSCEPTIBILITY TO
4948
3123
ENSG00000206306
HLA-DRB1
SARCOIDOSIS SUSCEPTIBILITY TO 1
4948
3123
ENSG00000254041
RP11-574O7.1


101927392
ENSG00000164880
INTS1

24555
26173
ENSG00000231259
AC125232.1


285074
ENSG00000224699
LAMTOR5-AS1

40823
101410535
ENSG00000206281
TAPBP

11566
6892
ENSG00000163618
CADPS

1426
8618
ENSG00000197408
CYP2B6
EFAVIRENZ POOR METABOLISM OF
2615
1555
ENSG00000197408
CYP2B6
Efavirenz toxicity
2615
1555
ENSG00000236901
MIR600HG

23642
693185
ENSG00000236901
MIR600HG

23642
81571
ENSG00000265822
MIR4422

41654
100616272
ENSG00000206652
RNU1-1

10120
26870
ENSG00000206652
RNU1-1

10120
26871
ENSG00000206652
RNU1-1

10120
26869
ENSG00000206652
RNU1-1

10120
26866
ENSG00000206652
RNU1-1

10120
26865
ENSG00000206652
RNU1-1

10120
26863
ENSG00000206652
RNU1-1

10120
6060
ENSG00000248572
EGFLAM-AS2

41168
100506475
ENSG00000226673
LINC01108

49234
102216342
ENSG00000266919
MIR3184

38182
100423003
ENSG00000266919
MIR3184

38182
494335
ENSG00000199071
MIR423

31880
100423003
ENSG00000199071
MIR423

31880
494335
ENSG00000089234
BRAP

1099
8315
ENSG00000224259
LINC01133

49447
100505633
ENSG00000164011
ZNF691

28028
51058
ENSG00000229646
RP11-330A16.1


101928354
ENSG00000167037
SGSM1

29410
129049
ENSG00000087995
METTL2A

25755
339175
ENSG00000133055
MYBPH

7552
4608
ENSG00000251396
RP11-163N6.2


100505532
ENSG00000249738
AC008697.1


285626
ENSG00000145075
CCDC39
Ciliary dyskinesia primary 14
25244
101928882
ENSG00000145075
CCDC39
Primary ciliary dyskinesia
25244
101928882
ENSG00000145075
CCDC39
Ciliary dyskinesia primary 14
25244
339829
ENSG00000145075
CCDC39
Primary ciliary dyskinesia
25244
339829
ENSG00000207991
MIR601

32857
693186
ENSG00000223756
TSSC2

12384
101060060
ENSG00000223756
TSSC2

12384
650368
ENSG00000125351
UPF3B
MENTAL RETARDATION X-LINKED SYNDROMIC 14
20439
65109
ENSG00000125351
UPF3B
X-linked intellectual disability with marfanoid habitus
20439
65109
ENSG00000125351
UPF3B
X-linked non-syndromic intellectual disability
20439
65109
ENSG00000125351
UPF3B
mental retardation syndromic X-linked type 14 (MRXS14)
20439
65109
ENSG00000221323
MIR1178

35259
100302274
ENSG00000198924
DCLRE1A

17660
9937
ENSG00000130511
SSBP4

15676
170463
ENSG00000215908
CROCCP2

28170
84809
ENSG00000255052
FAM66D

24159
100132923
ENSG00000231115
RING1

10018
6015
ENSG00000206305
HLA-DQA1

4942
100509457
ENSG00000206305
HLA-DQA1

4942
3117
ENSG00000198161
PPIAL4C

33995
100996725
ENSG00000198161
PPIAL4C

33995
653598
ENSG00000198161
PPIAL4C

33995
653505
ENSG00000198161
PPIAL4C

33995
164022
ENSG00000183643
C15orf32

26549
145858
ENSG00000227741
RP11-536C5.7


729867
ENSG00000229327
RP11-135A24.2


102031319
ENSG00000204428
LY6G5C

13932
80741
ENSG00000240194
CYMP

2588
643160
ENSG00000079462
PAFAH1B3

8576
5050
ENSG00000164056
SPRY1

11269
10252
ENSG00000235488
JARID2-AS1

40314
100506681
ENSG00000120215
MLANA

7124
2315
ENSG00000253298
AC008703.1


285627
ENSG00000228689
RP3-335N17.2


101927082
ENSG00000244968
LIFR-AS1

43600
100506495
ENSG00000244968
LIFR-AS1

43600
100500824
ENSG00000203709
C1orf132

32018
407025
ENSG00000203709
C1orf132

32018
407026
ENSG00000203815
FAM231D

49509
100996721
ENSG00000203815
FAM231D

49509
644634
ENSG00000236668
RP11-85O21.2


100505588
ENSG00000232947
RP11-401E14.2


101928406
ENSG00000254923
RP11-1236K1.8


392196
ENSG00000207604
MIR206

31584
406989
ENSG00000259282
SPATA8-AS1

48627
100652749
ENSG00000263712
MIR4639

41645
100616269
ENSG00000113569
NUP155
Familial atrial fibrillation
8063
9631
ENSG00000199080
MIR133B

31759
442890
ENSG00000180481
GLIPR1L2

28592
144321
ENSG00000090920
FCGBP

13572
8857
ENSG00000189398
OR7E12P

8383
10821
ENSG00000229656
RP11-462L8.1


101929475
ENSG00000253311
AC011343.1


101927766
ENSG00000196970
NXF4

8074
55999
ENSG00000235535
RP11-532N4.2


101927990
ENSG00000235407
RP11-470L19.2


440602
ENSG00000270141
TERC
Dyskeratosis congenita
11727
7012
ENSG00000270141
TERC
Idiopathic aplastic anemia
11727
7012
ENSG00000270141
TERC
Idiopathic pulmonary fibrosis
11727
7012
ENSG00000270141
TERC
DYSKERATOSIS CONGENITA AUTOSOMAL DOMINANT 1
11727
7012
ENSG00000125631
HTR5BP

16291
101929908
ENSG00000225791
TRAM2-AS1

48663
401264
ENSG00000185442
FAM174B

34339
400451
ENSG00000133317
LGALS12

15788
85329
ENSG00000259834
RP11-284N8.3


3738
ENSG00000231312
AC007246.3


728730
ENSG00000150337
FCGR1A

3613
2210
ENSG00000150337
FCGR1A

3613
2209
ENSG00000255367
RP13-726E6.2


101927708
ENSG00000186301
MST1P2

7383
101930052
ENSG00000170011
MYRIP

19156
25924
ENSG00000236548
RP11-510H23.1


7955
ENSG00000249295
RP11-241G9.3


101928924
ENSG00000215447
BX322557.10


642852
ENSG00000077782
FGFR1
Hypogonadotropic hypogonadism 2 with or without anosmia
3688
2260
ENSG00000077782
FGFR1
OSTEOGLOPHONIC DYSPLASIA
3688
2260
ENSG00000077782
FGFR1
PFEIFFER SYNDROME
3688
2260
ENSG00000077782
FGFR1
TRIGONOCEPHALY 1
3688
2260
ENSG00000077782
FGFR1
Encephalocraniocutaneous lipomatosis
3688
2260
ENSG00000077782
FGFR1
Giant cell glioblastoma
3688
2260
ENSG00000077782
FGFR1
Gliosarcoma
3688
2260
ENSG00000077782
FGFR1
Hartsfield-Bixler-Demyer syndrome
3688
2260
ENSG00000077782
FGFR1
Isolated trigonocephaly
3688
2260
ENSG00000077782
FGFR1
Kallmann Syndrome
3688
2260
ENSG00000077782
FGFR1
Lobar holoprosencephaly
3688
2260
ENSG00000077782
FGFR1
Microform holoprosencephaly
3688
2260
ENSG00000077782
FGFR1
Myeloid neoplasm associated with FGFR1 rearrangement
3688
2260
ENSG00000077782
FGFR1
Normosmic congenital hypogonadotropic hypogonadism
3688
2260
ENSG00000077782
FGFR1
Oligodontia
3688
2260
ENSG00000077782
FGFR1
Osteoglophonic dwarfism
3688
2260
ENSG00000077782
FGFR1
Pfeiffer syndrome type 1
3688
2260
ENSG00000077782
FGFR1
Pilocytic astrocytoma
3688
2260
ENSG00000077782
FGFR1
Primary hypereosinophilic syndrome
3688
2260
ENSG00000077782
FGFR1
Semilobar holoprosencephaly
3688
2260
ENSG00000077782
FGFR1
Septo-optic dysplasia spectrum
3688
2260
ENSG00000077782
FGFR1
Idiopathic hypogonadotropic hypogonadism (IHH)
3688
2260
ENSG00000077782
FGFR1
Kallmann syndrome type 2 (KAL2)
3688
2260
ENSG00000149679
CABLES2

16143
81928
ENSG00000119965
C10orf88

25822
80007
ENSG00000171566
PLRG1

9089
5356
ENSG00000171084
FAM86JP

44097
100125556
ENSG00000236950
RP5-1051D14.1


100506899
ENSG00000216775
RP1-152L7.5


730101
ENSG00000103148
NPRL3
familial focal epilepsy with variable foci (FFEVF)
14124
8131
ENSG00000151458
ANKRD50

29223
57182
ENSG00000065060
UHRF1BP1

21216
54887
ENSG00000062650
WAPAL

23293
23063
ENSG00000232537
RP11-385M4.1


100509303
ENSG00000239219
RP11-379K17.4


100128164
ENSG00000241839
PLEKHO2

30026
80301
ENSG00000230923
LINC00309

25279
150992
ENSG00000229913
RP11-378I13.1


101929757
ENSG00000133048
CHI3L1
ASTHMA-RELATED TRAITS SUSCEPTIBILITY TO 7
1932
1116
ENSG00000250156
CTC-498M16.2


102546226
ENSG00000224506
RP1-293L8.2


643623
ENSG00000196998
WDR45
Neurodegeneration with brain iron accumulation 5
28912
11152
ENSG00000196998
WDR45
Beta-propeller protein-associated neurodegeneration
28912
11152
ENSG00000196998
WDR45
Neurodegeneration with brain iron accumulation
28912
11152
ENSG00000198358
RP11-544M22.1


101928372
ENSG00000093072
CECR1
SNEDDON SYNDROME
1839
51816
ENSG00000093072
CECR1
Vasculitis due to ADA2 deficiency
1839
51816
ENSG00000230524
COL6A4P1

33484
344875
ENSG00000230456
DDR1

2730
100616237
ENSG00000230456
DDR1

2730
780
ENSG00000206511
GABBR1

4070
2550
ENSG00000237664
LINC00316

19723
388830
ENSG00000250138
RP11-848G14.5


101929573
ENSG00000250138
RP11-848G14.5


101929545
ENSG00000250138
RP11-848G14.5


101928967
ENSG00000250138
RP11-848G14.5


728093
ENSG00000073792
IGF2BP2

28867
10644
ENSG00000186862
PDZD7
USHER SYNDROME TYPE IIC
26257
79955
ENSG00000186862
PDZD7
Usher syndrome type 2
26257
79955
ENSG00000265304
MIR3650

38981
100500824
ENSG00000204227
RING1

10018
6015
ENSG00000182048
TRPC2

12334
7221
ENSG00000261846
AADACL2

24427
344752
ENSG00000196456
ZNF775

28501
285971
ENSG00000117394
SLC2A1
DYSTONIA 9
11005
6513
ENSG00000117394
SLC2A1
EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 12
11005
6513
ENSG00000117394
SLC2A1
GLUT1 DEFICIENCY SYNDROME 1
11005
6513
ENSG00000117394
SLC2A1
GLUT1 DEFICIENCY SYNDROME 2
11005
6513
ENSG00000117394
SLC2A1
Childhood absence epilepsy
11005
6513
ENSG00000117394
SLC2A1
Encephalopathy due to GLUT1 deficiency
11005
6513
ENSG00000117394
SLC2A1
Hereditary cryohydrocytosis with reduced stomatin
11005
6513
ENSG00000117394
SLC2A1
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
11005
6513
ENSG00000117394
SLC2A1
Paroxysmal exertion-induced dyskinesia
11005
6513
ENSG00000117394
SLC2A1
GLUT1 deficiency syndrome type 1 (GLUT1DS1)
11005
6513
ENSG00000117394
SLC2A1
GLUT1 deficiency syndrome type 2 (GLUT1DS2)
11005
6513
ENSG00000163067
ZNF2

12991
7549
ENSG00000236826
LSM2

13940
57819
ENSG00000249911
RP11-122C5.1


101926904
ENSG00000245008
RP11-744N12.3


101929538
ENSG00000164162
ANAPC10

24077
10393
ENSG00000224574
COL18A1-AS2

40155
100874236
ENSG00000132334
PTPRE

9669
5791
ENSG00000253203
GUSBP3

37301
100049076
ENSG00000253203
GUSBP3

37301
653188
ENSG00000263548
MIR5187

43523
100847090
ENSG00000231648
RP11-372M18.2


101929476
ENSG00000232859
LYRM9

27314
201229
ENSG00000254703
SENCR

44177
100507392
ENSG00000183535
COL18A1-AS1

23132
378832
ENSG00000203878
CHIAP2

44463
149620
ENSG00000207632
MIR588

32844
693173
ENSG00000205879
FAM90A2P

32250
729689
ENSG00000205879
FAM90A2P

32250
389633
ENSG00000125450
NUP85

8734
79902
ENSG00000138594
TMOD3

11873
29766
ENSG00000207595
MIR181A2

31549
406954
ENSG00000226759
DAB1-AS1

49443
101930545
ENSG00000226759
DAB1-AS1

49443
101926890
ENSG00000207775
MIR548A1

32796
693125
ENSG00000144395
CCDC150

26834
284992
ENSG00000204866
IGFL2

32929
147920
ENSG00000244738
RP11-373E16.3


101928583
ENSG00000207737
MIR181B2

31551
406956
ENSG00000230937
MIR205HG

43562
406988
ENSG00000262466
RP11-454C18.2


101928142
ENSG00000117983
MUC5B
PULMONARY FIBROSIS IDIOPATHIC
7516
727897
ENSG00000117983
MUC5B
Diffuse panbronchiolitis
7516
727897
ENSG00000117983
MUC5B
Idiopathic pulmonary fibrosis
7516
727897
ENSG00000188368
PRR19

33728
284338
ENSG00000120256
LRP11

16936
84918
ENSG00000259664
CTD-2147F2.2


101927286
ENSG00000224455
VPS52

10518
6293
ENSG00000137040
RANBP6

9851
26953
ENSG00000207963
MIR569

32825
693154
ENSG00000211997
MIR708

33654
100126333
ENSG00000264297
MIR4433

41634
102465833
ENSG00000264297
MIR4433

41634
100616265
ENSG00000266570
MIR5579

43485
100847000
ENSG00000233220
LINC00167

30468
440072
ENSG00000271334
CTD-2078B5.2


101926940
ENSG00000259582
RP11-461F11.3


101927310
ENSG00000241359
SYNPR-AS1

40774
100874016
ENSG00000239118
MIR1972-2

38252
100422922
ENSG00000239118
MIR1972-2

38252
100302243
ENSG00000151623
NR3C2
HYPERTENSION EARLY-ONSET AUTOSOMAL DOMINANT WITH SEVERE EXACERBATIONIN PREGNANCY
7979
4306
ENSG00000151623
NR3C2
PSEUDOHYPOALDOSTERONISM TYPE I AUTOSOMAL DOMINANT
7979
4306
ENSG00000151623
NR3C2
Pseudohyperaldosteronism type 2
7979
4306
ENSG00000151623
NR3C2
Renal pseudohypoaldosteronism type 1
7979
4306
ENSG00000259163
RP11-1078H9.5


101928909
ENSG00000184814
PRR23B

33764
389151
ENSG00000163794
UCN

12516
7349
ENSG00000230600
RP11-73B2.2


101929050
ENSG00000167117
LINC00483

26080
55018
ENSG00000206302
HLA-DQB1

4944
101060835
ENSG00000206302
HLA-DQB1

4944
3119
ENSG00000177468
OLIG3

18003
167826
ENSG00000124343
XG
BLOOD GROUP XG SYSTEM
12806
100132596
ENSG00000124343
XG
BLOOD GROUP XG SYSTEM
12806
7499
ENSG00000196159
FAT4
Cerebro-facio-articular syndrome
23109
79633
ENSG00000196159
FAT4
Hennekam syndrome
23109
79633
ENSG00000196159
FAT4
periventricular neuronal heterotopia
23109
79633
ENSG00000225217
HSPA7

5240
3311
ENSG00000233701
PRR23C

37173
389152
ENSG00000227480
CCDC148-AS1

44134
554201
ENSG00000109445
ZNF330

15462
27309
ENSG00000167619
TMEM145

26912
284339
ENSG00000255178
RP11-686G23.2


101928944
ENSG00000266265
KLF14

23025
136259
ENSG00000258716
RP11-661G16.2


101928883
ENSG00000260778
MIR940

33683
100126328
ENSG00000171408
PDE7B

8792
27115
ENSG00000145979
TBC1D7
Isolated megalencephaly
21066
51256
ENSG00000188293
IGFL1

24093
374918
ENSG00000271133
CTA-293F17.1


101927811
ENSG00000266643
MIR3677

38932
100500812
ENSG00000161326
DUSP14

17007
11072
ENSG00000264004
MIR4717

41571
100616241
ENSG00000204380
AC005042.4


100129029
ENSG00000240549
THOC7-AS1

41249
100874039
ENSG00000137033
IL33

16028
90865
ENSG00000221102
SNORA11B

33620
100124539
ENSG00000171103
TRMT61B

26070
55006
ENSG00000207513
RNU1-3

10130
26870
ENSG00000207513
RNU1-3

10130
26871
ENSG00000207513
RNU1-3

10130
26869
ENSG00000207513
RNU1-3

10130
26866
ENSG00000207513
RNU1-3

10130
26865
ENSG00000207513
RNU1-3

10130
26863
ENSG00000207513
RNU1-3

10130
6060
ENSG00000185839
RP4-592A1.2


204
ENSG00000118503
TNFAIP3
Hereditary pediatric Behcet-like disease
11896
7128
ENSG00000233911
POU5F1

9221
5460
ENSG00000245832
RP11-179A16.1


101928989
ENSG00000128731
HERC2
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1
4868
101930157
ENSG00000128731
HERC2
Developmental delay with autism spectrum disorder and gait instability
4868
101930157
ENSG00000128731
HERC2
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1
4868
101929832
ENSG00000128731
HERC2
Developmental delay with autism spectrum disorder and gait instability
4868
101929832
ENSG00000128731
HERC2
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1
4868
101929047
ENSG00000128731
HERC2
Developmental delay with autism spectrum disorder and gait instability
4868
101929047
ENSG00000128731
HERC2
SKIN/HAIR/EYE PIGMENTATION VARIATION IN 1
4868
8924
ENSG00000128731
HERC2
Developmental delay with autism spectrum disorder and gait instability
4868
8924
ENSG00000265829
MIR548AG1

41625
100616450
ENSG00000130701
RBBP8NL

16144
140893
ENSG00000238098
ABCA17P

32972
650655
ENSG00000234807
LINC01135

49450
100131060
ENSG00000173575
CHD2
Lennox-Gastaut syndrome
1917
1106
ENSG00000173575
CHD2
Myoclonic-astastic epilepsy
1917
1106
ENSG00000173575
CHD2
Epileptic encephalopathy
1917
1106
ENSG00000229582
RP11-423C15.3


51145
ENSG00000213075
RPL31P11

35849
641311
ENSG00000266389
CTB-41I6.1


101928235
ENSG00000228412
RP4-625H18.2


100506885
ENSG00000166839
ANKDD1A

28002
348094
ENSG00000212534
SNORD70

32731
692110
ENSG00000271816
RP11-574K11.28


729096
ENSG00000143970
ASXL2
Developmental delay macrocephaly and dysmorphic features
23805
55252
ENSG00000264110
MIR4300

38184
100422823
ENSG00000249106
RP11-806K15.1


101928590
ENSG00000268869
ESPNP

23285
284729
ENSG00000250218
ALDH1L1-AS1

40244
100874204
ENSG00000271852
SNORD11B

33571
100113392
ENSG00000262966
RP11-85B7.2


101928266
ENSG00000228392
RP11-343J18.1


101929116
ENSG00000203814
HIST2H2BF

24700
440689
ENSG00000238317
SNORD11

32707
692058
ENSG00000087095
NLK

29858
51701
ENSG00000108100
CCNY

23354
219771
ENSG00000243667
WDR92

25176
116143
ENSG00000253079
NRON

37079
641373
ENSG00000010030
ETV7

18160
51513
ENSG00000264831
MIR4260

38179
100422894
ENSG00000246022
ALDH1L1-AS2

42446
100862662
ENSG00000143878
RHOB

668
388
ENSG00000227591
RP1-28O10.1


101930244
ENSG00000227591
RP1-28O10.1


101930114
ENSG00000173039
RELA
Ependymoma
9955
5970
ENSG00000184432
COPB2

2232
9276
ENSG00000165732
DDX21

2744
9188
ENSG00000036257
CUL3
PSEUDOHYPOALDOSTERONISM TYPE IIE
2553
8452
ENSG00000036257
CUL3
Pseudohypoaldosteronism type 2E
2553
8452
ENSG00000036257
CUL3
CUL3 associated autism spectrum disorder
2553
8452
ENSG00000254842
RP11-890B15.2


100507431
ENSG00000269782
MIR1470

35379
100302127
ENSG00000219451
RPL23P8

36225
222901
ENSG00000242338
BMS1P4

23652
9790
ENSG00000253522
MIR146A

31533
406938
ENSG00000250934
RP11-71E19.1


644662
ENSG00000203706
SERTAD4-AS1

32019
574036
ENSG00000183598
HIST2H3D

25311
653604
ENSG00000183598
HIST2H3D

25311
333932
ENSG00000183598
HIST2H3D

25311
126961
ENSG00000266144
MIR4654

41643
100616386
ENSG00000102981
PARD6A

15943
50855
ENSG00000102030
NAA10
OGDEN SYNDROME
18704
8260
ENSG00000102030
NAA10
Microphthalmia Lenz type
18704
8260
ENSG00000102030
NAA10
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
18704
8260
ENSG00000102030
NAA10
Nonpecific severe ID
18704
8260
ENSG00000102030
NAA10
X-linked anophthalmia syndrome
18704
8260
ENSG00000102030
NAA10
X-linked anophthalmia syndrome/Lenz
18704
8260
ENSG00000207729
MIR556

32812
693141
ENSG00000131238
PPT1
Ceroid lipofuscinosis neuronal 1
9325
5538
ENSG00000131238
PPT1
CLN1 disease
9325
5538
ENSG00000131238
PPT1
neuronal ceroid lipofuscinosis type 1 (CLN1)
9325
5538
ENSG00000227179
PGCP1

39503
441897
ENSG00000227945
RP11-103C16.2


101928140
ENSG00000249833
RP11-71E19.5


100506907
ENSG00000226856
AC093901.1


100506797
ENSG00000183941
HIST2H4A

4794
554313
ENSG00000183941
HIST2H4A

4794
121504
ENSG00000183941
HIST2H4A

4794
8370
ENSG00000183941
HIST2H4A

4794
8368
ENSG00000183941
HIST2H4A

4794
8366
ENSG00000183941
HIST2H4A

4794
8367
ENSG00000183941
HIST2H4A

4794
8365
ENSG00000183941
HIST2H4A

4794
8364
ENSG00000183941
HIST2H4A

4794
8362
ENSG00000183941
HIST2H4A

4794
8363
ENSG00000183941
HIST2H4A

4794
8361
ENSG00000183941
HIST2H4A

4794
8360
ENSG00000183941
HIST2H4A

4794
8359
ENSG00000183941
HIST2H4A

4794
8294
ENSG00000224152
AC009506.1


643072
ENSG00000224609
RP11-470E16.1


729467
ENSG00000207389
RNU1-4

10128
26870
ENSG00000207389
RNU1-4

10128
26871
ENSG00000207389
RNU1-4

10128
26869
ENSG00000207389
RNU1-4

10128
26866
ENSG00000207389
RNU1-4

10128
26865
ENSG00000207389
RNU1-4

10128
26863
ENSG00000207389
RNU1-4

10128
6060
ENSG00000118960
HS1BP3

24979
64342
ENSG00000123124
WWP1

17004
11059
ENSG00000087460
GNAS
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
4392
2778
ENSG00000087460
GNAS
Colorectal Cancer
4392
2778
ENSG00000087460
GNAS
McCune-Albright syndrome
4392
2778
ENSG00000087460
GNAS
OSSEOUS HETEROPLASIA PROGRESSIVE
4392
2778
ENSG00000087460
GNAS
PITUITARY ADENOMA GROWTH HORMONE-SECRETING 1
4392
2778
ENSG00000087460
GNAS
PSEUDOHYPOPARATHYROIDISM TYPE IA WITH TESTOTOXICOSIS
4392
2778
ENSG00000087460
GNAS
PSEUDOHYPOPARATHYROIDISM TYPE IB
4392
2778
ENSG00000087460
GNAS
PSEUDOHYPOPARATHYROIDISM TYPE IC
4392
2778
ENSG00000087460
GNAS
Cushing syndrome due to macronodular adrenal hyperplasia
4392
2778
ENSG00000087460
GNAS
Mazabraud syndrome
4392
2778
ENSG00000087460
GNAS
Monostotic fibrous dysplasia
4392
2778
ENSG00000087460
GNAS
Polyostotic fibrous dysplasia somatic mosaic
4392
2778
ENSG00000087460
GNAS
Progressive osseous heteroplasia
4392
2778
ENSG00000087460
GNAS
Pseudohypoparathyroidism type 1A
4392
2778
ENSG00000087460
GNAS
Pseudohypoparathyroidism type 1B
4392
2778
ENSG00000087460
GNAS
Pseudohypoparathyroidism type 1C
4392
2778
ENSG00000087460
GNAS
PSEUDOPSEUDOHYPOPARATHYROIDISM
4392
2778
ENSG00000087460
GNAS
Albright hereditary osteodystrophy (AHO)
4392
2778
ENSG00000087460
GNAS
GNAS hyperfunction
4392
2778
ENSG00000265237
MIR3142

38297
100422938
ENSG00000166477
LEO1

30401
123169
ENSG00000185522
C11orf35

28561
256329
ENSG00000261556
RP11-296I10.6


100506060
ENSG00000196865
NHLRC2

24731
374354
ENSG00000255042
RP11-347H15.5


441601
ENSG00000269893
SNHG8

33098
100093630
ENSG00000269893
SNHG8

33098
677809
ENSG00000196296
ATP2A1
BRODY MYOPATHY
811
487
ENSG00000266150
MIR4711

41847
100616409
ENSG00000231816
RP4-782L23.1


101926944
ENSG00000207221
SNORA70E

34357
100379250
ENSG00000253417
RP11-109J4.1


285629
ENSG00000111331
OAS3

8088
4940
ENSG00000246067
RAB30-AS1

48672
100506233
ENSG00000263948
MIR4785

41889
100616364
ENSG00000272168
CASC15

28245
401237
ENSG00000170777
TPD52L3

23382
89882
ENSG00000251504
LINC01099

49222
101928656
ENSG00000264480
MIR4714

41763
100616432
ENSG00000231252
RP11-436K8.1


101926964
ENSG00000159086
PAXBP1

13579
94104
ENSG00000183624
HMCES

24446
56941
ENSG00000115204
MPV17
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
7224
4358
ENSG00000115204
MPV17
Navajo neurohepatopathy
7224
4358
ENSG00000226060
TRIM26

12962
7726
ENSG00000232892
RP11-267N12.1


101928404
ENSG00000225103
HLA-DQA2

4943
3118
ENSG00000264563
MIR4633

41822
100616175
ENSG00000231013
AC013275.2


101927734
ENSG00000265691
MIR4460

41795
100616325
ENSG00000206069
TMEM211

33725
255349
ENSG00000259706
HSP90B2P

12099
7190
ENSG00000245526
LINC00461

42810
645323
ENSG00000245526
LINC00461

42810
407047
ENSG00000233209
HLA-DQB1

4944
101060835
ENSG00000233209
HLA-DQB1

4944
3119
ENSG00000227403
AC009299.3


100996579
ENSG00000267107
AC011526.1


100505495
ENSG00000230140
AC016738.3


101927142
ENSG00000153363
LINC00467

28227
84791
ENSG00000232995
RP11-267N12.3


8490
ENSG00000124440
HIF3A

15825
64344
ENSG00000130700
GATA5
Familial atrial fibrillation
15802
140628
ENSG00000130700
GATA5
Familial bicuspid aortic valve
15802
140628
ENSG00000130700
GATA5
TETRALOGY OF FALLOT
15802
140628
ENSG00000133063
CHIT1
CHITOTRIOSIDASE DEFICIENCY
1936
1118
ENSG00000201302
SNORA65

10222
26783
ENSG00000264329
MIR3911

38962
100500872
ENSG00000248197
LINC00290

38515
728081
ENSG00000231346
LINC01160

49525
100129269
ENSG00000255495
FAM85A

17606
619423
ENSG00000237853
RP5-833A20.1


645030
ENSG00000260455
CASC14

49075
729177
ENSG00000174197
MGA

14010
23269
ENSG00000266070
MIR3960

41595
100616250
ENSG00000203811
HIST2H3C

20503
653604
ENSG00000203811
HIST2H3C

20503
333932
ENSG00000203811
HIST2H3C

20503
126961
ENSG00000237333
MSH5

7328
4439
ENSG00000223920
RP11-430G17.1


414927
ENSG00000163328
GPR155

22951
151556
ENSG00000114670
NEK11

18593
79858
ENSG00000154608
CEP170P1

28364
645455
ENSG00000259895
RP11-715J22.2


729652
ENSG00000204427
ABHD16A

13921
7920
ENSG00000230317
RP11-104D21.3


101926971
ENSG00000227811
FAM212B-AS1

49446
100506343
ENSG00000183558
HIST2H2AA3

4736
723790
ENSG00000183558
HIST2H2AA3

4736
8337
ENSG00000266232
MIR3178

38381
100422974
ENSG00000272902
RP11-299H21.1


100506286
ENSG00000197077
KIAA1671

29345
100996283
ENSG00000197077
KIAA1671

29345
85379
ENSG00000226121
AHCTF1P1

24620
285116
ENSG00000212283
SNORD89

32750
692205
ENSG00000206353
SKIV2L
TRICHOHEPATOENTERIC SYNDROME 2
10898
6499
ENSG00000147854
UHRF2

12557
115426
ENSG00000263908
MIR3116-2

38318
100422946
ENSG00000263908
MIR3116-2

38318
100422902
ENSG00000263908
MIR3116-2

38200
100422946
ENSG00000263908
MIR3116-2

38200
100422902
ENSG00000264857
MIR5696

43516
100847007
ENSG00000105429
MEGF8
CARPENTER SYNDROME 2
3233
1954
ENSG00000105429
MEGF8
CARPENTER SYNDROME
3233
1954
ENSG00000247137
RP11-727A23.5


100506282
ENSG00000263811
MIR3675

38973
100500876
ENSG00000232558
KCND3-IT1

41350
100874295
ENSG00000187537
POTEM

37096
641455
ENSG00000090686
USP48

18533
84196
ENSG00000228549
U1


101927806
ENSG00000228549
U1


100132147
ENSG00000228549
U1


440570
ENSG00000056998
GYG2

4700
8908
ENSG00000227764
RP11-354K1.1


101929499
ENSG00000108306
FBXL20

24679
84961
ENSG00000105655
ISYNA1

29821
51477
ENSG00000203812
HIST2H2AA4

29668
723790
ENSG00000203812
HIST2H2AA4

29668
8337
ENSG00000172352
CDY1B

23920
253175
ENSG00000172352
CDY1B

23920
9085
ENSG00000186973
FAM183A

34347
440585
ENSG00000227028
SLC8A1-AS1

44102
100128590
ENSG00000233694
AC007365.1


339807
ENSG00000130656
HBZ

4835
3050
ENSG00000239653
PSMD6-AS2

44125
100507062
ENSG00000154217
PITPNC1

21045
26207
ENSG00000013275
PSMC4

9551
5704
ENSG00000231057
RP11-122M14.1


91548
ENSG00000178826
TMEM139

22058
135932
ENSG00000011426
ANLN
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
14082
54443
ENSG00000164520
RAET1E

16793
135250
ENSG00000207005
RNU1-2

10123
26870
ENSG00000207005
RNU1-2

10123
26871
ENSG00000207005
RNU1-2

10123
26869
ENSG00000207005
RNU1-2

10123
26866
ENSG00000207005
RNU1-2

10123
26865
ENSG00000207005
RNU1-2

10123
26863
ENSG00000207005
RNU1-2

10123
6060
ENSG00000234467
SLC25A1P2

43847
100506447
ENSG00000149948
HMGA2
LEIOMYOMA UTERINE
5009
8091
ENSG00000149948
HMGA2
STATURE QUANTITATIVE TRAIT LOCUS 9
5009
8091
ENSG00000149948
HMGA2
12q14 microdeletion syndrome
5009
8091
ENSG00000149948
HMGA2
Dedifferentiated liposarcoma
5009
8091
ENSG00000149948
HMGA2
Pleomorphic salivary gland adenoma
5009
8091
ENSG00000149948
HMGA2
Well-differentiated liposarcoma
5009
8091
ENSG00000263979
MIR4672

41662
100616429
ENSG00000241111
RP11-129B22.1


100652759
ENSG00000069956
MAPK6

6879
5597
ENSG00000233693
RP11-506O24.1


100505795
ENSG00000203852
HIST2H3A

20505
653604
ENSG00000203852
HIST2H3A

20505
333932
ENSG00000203852
HIST2H3A

20505
126961
ENSG00000235545
RP11-230B22.1


400756
ENSG00000189196
LINC00994

48949
100287879
ENSG00000204362
RP11-380J14.1


400743
ENSG00000160959
LRRC14

20419
9684
ENSG00000171872
KLF17

18830
128209
ENSG00000266634
MIR3972

41876
100616188
ENSG00000202198
RN7SK

10037
125050
ENSG00000227888
FAM66A

30444
100133172
ENSG00000241101
PRICKLE2-AS2

40917
100874242
ENSG00000206280
ZBTB22

13085
9278
ENSG00000254802
AC022182.3


100130298
ENSG00000136856
SLC2A8

13812
29988
ENSG00000108821
COL1A1
CAFFEY DISEASE
2197
1277
ENSG00000108821
COL1A1
DERMATOFIBROSARCOMA PROTUBERANS
2197
1277
ENSG00000108821
COL1A1
EHLERS-DANLOS SYNDROME TYPE IV
2197
1277
ENSG00000108821
COL1A1
EHLERS-DANLOS SYNDROME TYPE VII AUTOSOMAL DOMINANT
2197
1277
ENSG00000108821
COL1A1
OSTEOGENESIS IMPERFECTA TYPE I MILD
2197
1277
ENSG00000108821
COL1A1
OSTEOGENESIS IMPERFECTA TYPE II
2197
1277
ENSG00000108821
COL1A1
OSTEOGENESIS IMPERFECTA TYPE III
2197
1277
ENSG00000108821
COL1A1
OSTEOGENESIS IMPERFECTA TYPE IV
2197
1277
ENSG00000108821
COL1A1
OSTEOPOROSIS
2197
1277
ENSG00000108821
COL1A1
Ehlers-Danlos syndrome type 1
2197
1277
ENSG00000108821
COL1A1
Ehlers-Danlos syndrome type 2
2197
1277
ENSG00000108821
COL1A1
Ehlers-Danlos syndrome type 7A
2197
1277
ENSG00000108821
COL1A1
Ehlers-Danlos syndrome vascular-like type
2197
1277
ENSG00000108821
COL1A1
Ehlers-Danlos/osteogenesis imperfecta syndrome
2197
1277
ENSG00000108821
COL1A1
High bone mass osteogenesis imperfecta
2197
1277
ENSG00000108821
COL1A1
Osteogenesis imperfecta type 1
2197
1277
ENSG00000108821
COL1A1
Osteogenesis imperfecta type 2
2197
1277
ENSG00000108821
COL1A1
Osteogenesis imperfecta type 3
2197
1277
ENSG00000108821
COL1A1
Osteogenesis imperfecta type 4
2197
1277
ENSG00000108821
COL1A1
COL1A1/2-Related Osteogenesis Imperfecta
2197
1277
ENSG00000108821
COL1A1
EHLERS-DANLOS SYNDROME TYPE VIIA
2197
1277
ENSG00000108821
COL1A1
Ehlers-Danlos Syndrome Classic Type COL1A1-Related
2197
1277
ENSG00000108821
COL1A1
OSTEOGENESIS IMPERFECTA TYPE I
2197
1277
ENSG00000108821
COL1A1
OSTEOGENESIS IMPERFECTA TYPE IIA
2197
1277
ENSG00000196610
HLA-DQB2

4945
3120
ENSG00000206177
HBM

4826
3042
ENSG00000151849
CENPJ
MICROCEPHALY 6 PRIMARY AUTOSOMAL RECESSIVE
17272
55835
ENSG00000151849
CENPJ
SECKEL SYNDROME 4
17272
55835
ENSG00000151849
CENPJ
Autosomal recessive primary microcephaly
17272
55835
ENSG00000151849
CENPJ
Seckel syndrome
17272
55835
ENSG00000151849
CENPJ
microcephaly primary type 6 (MCPH6)
17272
55835
ENSG00000151849
CENPJ
Seckel syndrome type 4
17272
55835
ENSG00000226017
PRICKLE2-AS3

40918
100874243
ENSG00000182397
DNM1P46

35199
196968
ENSG00000153208
MERTK
RETINITIS PIGMENTOSA 38
7027
10461
ENSG00000153208
MERTK
Retinitis pigmentosa
7027
10461
ENSG00000229980
TOB1-AS1

44340
400604
ENSG00000250048
LINC00603

43918
102467077
ENSG00000255556
RP11-351I21.6


649352
ENSG00000264358
MIR3122

38320
100422947
ENSG00000242296
DEFB109P1

18090
245912
ENSG00000182217
HIST2H4B

29607
554313
ENSG00000182217
HIST2H4B

29607
121504
ENSG00000182217
HIST2H4B

29607
8370
ENSG00000182217
HIST2H4B

29607
8368
ENSG00000182217
HIST2H4B

29607
8366
ENSG00000182217
HIST2H4B

29607
8367
ENSG00000182217
HIST2H4B

29607
8365
ENSG00000182217
HIST2H4B

29607
8364
ENSG00000182217
HIST2H4B

29607
8362
ENSG00000182217
HIST2H4B

29607
8363
ENSG00000182217
HIST2H4B

29607
8361
ENSG00000182217
HIST2H4B

29607
8360
ENSG00000182217
HIST2H4B

29607
8359
ENSG00000182217
HIST2H4B

29607
8294
ENSG00000224209
LINC00466

27294
199899
ENSG00000264764
MIR4772

41741
100616157
ENSG00000166007
TRIM51HP

43977
440041
ENSG00000100053
CRYBB3
CATARACT 22 MULTIPLE TYPES AUTOSOMAL DOMINANT
2400
1417
ENSG00000100053
CRYBB3
Early-onset anterior polar cataract
2400
1417
ENSG00000100053
CRYBB3
Early-onset nuclear cataract
2400
1417
ENSG00000100053
CRYBB3
CATARACT CONGENITAL NUCLEAR AUTOSOMAL RECESSIVE 2
2400
1417
ENSG00000254285
KRT8P3

31056
3856
ENSG00000270074
LINC00965

28022
349196
ENSG00000144119
C1QL2

24181
165257
ENSG00000177822
AC108142.1


101928703
ENSG00000177822
AC108142.1


90768
ENSG00000159210
SNF8

17028
11267
ENSG00000265176
MIR3202-1

38228
100422987
ENSG00000265176
MIR3202-1

38228
100422877
ENSG00000265176
MIR3202-1

38224
100422987
ENSG00000265176
MIR3202-1

38224
100422877
ENSG00000226251
RP11-15I11.3


101929541
ENSG00000264056
MIR5685

43543
100847075
ENSG00000215866
RP11-426L16.8


100996702
ENSG00000217527
RPS16P5

36183
647190
ENSG00000237463
RP11-280O1.2


400794
ENSG00000264408
MIR4470

41833
100616484
ENSG00000254887
CTC-378H22.1


100505622
ENSG00000206530
WDR52

25631
55779
ENSG00000211524
MIR718

37317
100313781
ENSG00000234572
AC007880.1


101927438
ENSG00000266704
MIR4498

41838
100616179
ENSG00000263421
MIR4687

41712
100616453
ENSG00000251127
RP11-280G9.1


101929610
ENSG00000259634
RP11-529H20.5


4287
ENSG00000212296
SNORD72

32733
619564
ENSG00000206869
SNORA70F

34358
100337591
ENSG00000164163
ABCE1

69
6059
ENSG00000250742
RP11-834C11.4


400043
ENSG00000171115
GIMAP8

21792
155038
ENSG00000235316
DUSP8P5

45003
2749
ENSG00000251018
RP11-80G7.1


101927813
ENSG00000255857
PXN-AS1

44123
100506649
ENSG00000266226
MIR4323

38394
100422980
ENSG00000174407
C20orf166

16159
128826
ENSG00000179988
PSTK

28578
118672
ENSG00000201544
SNORA16B

32606
692157
ENSG00000223548
AC034228.3


101927693
ENSG00000254119
RP11-705O24.1


101929628
ENSG00000197838
CYP2A13

2608
1553
ENSG00000265214
MIR4283-1

38296
100422917
ENSG00000265214
MIR4283-1

38296
100422848
ENSG00000265214
MIR4283-1

38238
100422917
ENSG00000265214
MIR4283-1

38238
100422848
ENSG00000259436
CTC-378H22.2


100505639
ENSG00000229020
AKR7A2P1

24062
246182
ENSG00000168405
CMAHP

2098
8418
ENSG00000244752
CRYBB2
CATARACT 3 MULTIPLE TYPES
2398
1415
ENSG00000244752
CRYBB2
Cataract-microcornea syndrome
2398
1415
ENSG00000244752
CRYBB2
Cerulean cataract
2398
1415
ENSG00000244752
CRYBB2
Early-onset nuclear cataract
2398
1415
ENSG00000244752
CRYBB2
Early-onset posterior subcapsular cataract
2398
1415
ENSG00000244752
CRYBB2
Early-onset sutural cataract
2398
1415
ENSG00000244752
CRYBB2
Pulverulent cataract
2398
1415
ENSG00000244752
CRYBB2
Total early-onset cataract
2398
1415
ENSG00000244752
CRYBB2
CATARACT CONGENITAL CERULEAN TYPE 2
2398
1415
ENSG00000244752
CRYBB2
CATARACT COPPOCK-LIKE
2398
1415
ENSG00000234771
RP11-395P17.3


100289019
ENSG00000228067
RP11-61J19.3


101929565
ENSG00000226419
SLC16A1-AS1

49445
100506392
ENSG00000117395
EBNA1BP2

15531
102465439
ENSG00000117395
EBNA1BP2

15531
10969
ENSG00000161572
LYZL6

29614
57151
ENSG00000237638
AC007386.2


400958
ENSG00000206299
TAP2
BARE LYMPHOCYTE SYNDROME TYPE II COMPLEMENTATION GROUP D
44
6891
ENSG00000213904
LIPE-AS1

48589
101928003
ENSG00000213904
LIPE-AS1

48589
100996307
ENSG00000137875
BCL2L10

993
10017
ENSG00000184678
HIST2H2BE

4760
8349
ENSG00000261677
PTPLA

9639
9200
ENSG00000188536
HBA2
ALPHA-THALASSEMIA
4824
3040
ENSG00000188536
HBA2
HEINZ BODY ANEMIAS
4824
3040
ENSG00000188536
HBA2
HEMOGLOBIN H DISEASE
4824
3040
ENSG00000188536
HBA2
HEMOGLOBIN--ALPHA LOCUS 1
4824
3040
ENSG00000188536
HBA2
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
4824
3040
ENSG00000188536
HBA2
Hb Bart's Hydrops Fetalis
4824
3040
ENSG00000188536
HBA2
Hemoglobin M disease
4824
3040
ENSG00000188536
HBA2
ALPHA-THALASSEMIA
4824
3039
ENSG00000188536
HBA2
HEINZ BODY ANEMIAS
4824
3039
ENSG00000188536
HBA2
HEMOGLOBIN H DISEASE
4824
3039
ENSG00000188536
HBA2
HEMOGLOBIN--ALPHA LOCUS 1
4824
3039
ENSG00000188536
HBA2
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
4824
3039
ENSG00000188536
HBA2
Hb Bart's Hydrops Fetalis
4824
3039
ENSG00000188536
HBA2
Hemoglobin M disease
4824
3039
ENSG00000176294
OR4N2

14742
390429
ENSG00000248668
OXCT1-AS1

40423
100874002
ENSG00000207581
MIR199B

31573
406978
ENSG00000146856
AGBL3

27981
340351
ENSG00000207165
SNORA70

10231
26778
ENSG00000184731
FAM110C

33340
642273
ENSG00000260533
NRBP2

19339
102466748
ENSG00000260533
NRBP2

19339
340371
ENSG00000154928
EPHB1

3392
2047
ENSG00000264823
MIR3154

38176
100422893
ENSG00000197180
BX936347.1


158960
ENSG00000224490
TTC21B-AS1

41115
100506134
ENSG00000112339
HBS1L

4834
10767
ENSG00000238198
RP11-31F15.2


100996251
ENSG00000088827
SIGLEC1

11127
6614
ENSG00000115107
STEAP3
ANEMIA HYPOCHROMIC MICROCYTIC WITH IRON OVERLOAD 2
24592
55240
ENSG00000115107
STEAP3
Severe congenital hypochromic anemia with ringed sideroblasts
24592
55240
ENSG00000223546
LINC00630

44263
100287765
ENSG00000254480
RP11-23F23.2


100506082
ENSG00000223591
CENPVP1

31851
441495
ENSG00000223591
CENPVP1

31851
389857
ENSG00000131435
PDLIM4

16501
8572
ENSG00000182652
OR4Q3

15426
441669
ENSG00000231683
RP1-27K12.2


101927136
ENSG00000261781
RP11-174G17.2


101927876
ENSG00000176299
OR4M1

14735
441670
ENSG00000215838
RP11-466F5.6


440700
ENSG00000148606
POLR3A
Leukodystrophy hypomyelinating 7 with or without oligodontia and/or hypogonadotropic hypogonadism
30074
11128
ENSG00000148606
POLR3A
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
30074
11128
ENSG00000148606
POLR3A
Hypomyelination-hypogonadotropic-hypogonadism-hypodontia syndrome
30074
11128
ENSG00000148606
POLR3A
Odontoleukodystrophy
30074
11128
ENSG00000148606
POLR3A
Tremor-ataxia-central hypomyelination syndrome
30074
11128
ENSG00000159388
BTG2

1131
7832
ENSG00000132780
NASP

7644
4678
ENSG00000231955
AC007383.4


100329109
ENSG00000241956
CTC-340A15.2


102546299
ENSG00000165762
OR4K2

14728
390431
ENSG00000179144
GIMAP7

22404
168537
ENSG00000266807
MIR548H5

41768
100616455
ENSG00000184260
HIST2H2AC

4738
8338
ENSG00000207047
SNORD51

10201
26798
ENSG00000206279
DAXX

2681
1616
ENSG00000176281
OR4K5

14745
79317
ENSG00000198468
FLVCR1-AS1

39077
642946
ENSG00000178028
DMAP1

18291
55929
ENSG00000223949
RP11-24J23.2


101927034
ENSG00000237714
P4HA2-AS1

43560
100861518
ENSG00000207406
SNORA41

32634
619569
ENSG00000100068
LRP5L

25323
91355
ENSG00000260045
STAM

11357
8027
ENSG00000133321
RARRES3

9869
5920
ENSG00000155249
OR4K1

14726
79544
ENSG00000184270
HIST2H2AB

20508
317772
ENSG00000272593
RP11-339B21.11


81605
ENSG00000197446
CYP2F1

2632
1572
ENSG00000111271
ACAD10

21597
80724
ENSG00000169488
OR4K15

15353
81127
ENSG00000264470
MIR4794

41829
100616338
ENSG00000265606
MIR4695

41573
100616120
ENSG00000235899
RP11-345L23.1


101927171
ENSG00000223501
VPS52

10518
6293
ENSG00000206948
SNORA36A

32628
100847052
ENSG00000206948
SNORA36A

32628
677817
ENSG00000139278
GLIPR1

17001
11010
ENSG00000207955
MIR219-2

31598
100616335
ENSG00000207955
MIR219-2

31598
407003
ENSG00000221662
MIR1290

35283
100302276
ENSG00000122176
FMOD

3774
2331
ENSG00000169484
OR4K14

15352
122740
ENSG00000137204
SLC22A7

10971
10864
ENSG00000230424
RP1-43E13.2


101927895
ENSG00000164066
INTU

29239
27152
ENSG00000099954
CECR2

1840
27443
ENSG00000265669
MIR548AJ1

41884
100616191
ENSG00000206693
SNORA56

32650
677835
ENSG00000176253
OR4K13

15351
390433
ENSG00000254552
XIRP2-AS1

40679
100874011
ENSG00000236850
BMS1P20

49153
96610
ENSG00000236740
RP11-411K7.1


101927189
ENSG00000215952
MIR921

33671
100126349
ENSG00000178096
BOLA1

24263
51027
ENSG00000221783
MIR1183

35264
100302122
ENSG00000096696
DSP
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA FAMILIAL 8
3052
1832
ENSG00000096696
DSP
Cardiomyopathy dilated with woolly hair and keratoderma
3052
1832
ENSG00000096696
DSP
EPIDERMOLYSIS BULLOSA LETHAL ACANTHOLYTIC
3052
1832
ENSG00000096696
DSP
KERATOSIS PALMOPLANTARIS STRIATA II
3052
1832
ENSG00000096696
DSP
SKIN FRAGILITY-WOOLLY HAIR SYNDROME
3052
1832
ENSG00000096696
DSP
Erythrokeratodermia-cardiomyopathy syndrome
3052
1832
ENSG00000096696
DSP
Familial isolated arrhythmogenic ventricular dysplasia biventricular form
3052
1832
ENSG00000096696
DSP
Familial isolated arrhythmogenic ventricular dysplasia left dominant form
3052
1832
ENSG00000096696
DSP
Familial isolated arrhythmogenic ventricular dysplasia right dominant form
3052
1832
ENSG00000096696
DSP
Idiopathic pulmonary fibrosis
3052
1832
ENSG00000096696
DSP
Lethal acantholytic epidermolysis bullosa
3052
1832
ENSG00000096696
DSP
Severe dermatitis-multiple allergies-metabolic wasting syndrome
3052
1832
ENSG00000096696
DSP
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
3052
1832
ENSG00000096696
DSP
Striate palmoplantar keratoderma
3052
1832
ENSG00000096696
DSP
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
3052
1832
ENSG00000228495
LINC01013

48987
100507254
ENSG00000176246
OR4L1

15356
122742
ENSG00000214691
AC104654.1


388942
ENSG00000271706
hsa-mir-335


442904
ENSG00000135100
HNF1A
DIABETES MELLITUS INSULIN-DEPENDENT 20
11621
6927
ENSG00000135100
HNF1A
HEPATIC ADENOMAS FAMILIAL
11621
6927
ENSG00000135100
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 9
11621
6927
ENSG00000135100
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG TYPE 3
11621
6927
ENSG00000135100
HNF1A
Chromophobe renal cell carcinoma
11621
6927
ENSG00000135100
HNF1A
Clear cell papillary renal cell carcinoma
11621
6927
ENSG00000135100
HNF1A
Hyperinsulinism due to HNF1A deficiency
11621
6927
ENSG00000135100
HNF1A
MODY type II
11621
6927
ENSG00000226891
RP11-182I10.3


101927084
ENSG00000143869
GDF7

4222
151449
ENSG00000107796
ACTA2
AORTIC ANEURYSM FAMILIAL THORACIC 6
130
59
ENSG00000107796
ACTA2
Moyamoya disease 5
130
59
ENSG00000107796
ACTA2
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
130
59
ENSG00000107796
ACTA2
Familial thoracic aortic aneurysm and aortic dissection
130
59
ENSG00000107796
ACTA2
Moyamoya disease
130
59
ENSG00000069966
GNB5
Sinus Bradycardia and Cognitive Disability
4401
10681
ENSG00000204929
AC074391.1


101927533
ENSG00000270561
COPG2IT1

2238
53844
ENSG00000176230
OR4K17

15355
390436
ENSG00000236996
MLIP-IT1

41461
100874282
ENSG00000068976
PYGM
GLYCOGEN STORAGE DISEASE VI
9726
5837
ENSG00000068976
PYGM
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
9726
5837
ENSG00000221533
MIR1184-1

35265
100422985
ENSG00000221533
MIR1184-1

35265
100422977
ENSG00000221533
MIR1184-1

35265
100302111
ENSG00000164136
IL15

5977
3600
ENSG00000184394
OR4N5

15358
390437
ENSG00000226396
RPS14P3

35797
644068
ENSG00000010818
HIVEP2
HIVEP2 associated syndromic developmental delay with intellectual disability
4921
3097
ENSG00000133328
HRASLS2

17824
54979
ENSG00000263468
MIR3130-1

38363
100423002
ENSG00000263468
MIR3130-1

38363
100422993
ENSG00000263468
MIR3130-1

38275
100423002
ENSG00000263468
MIR3130-1

38275
100422993
ENSG00000196832
OR11G2

15346
390439
ENSG00000101187
SLCO4A1

10953
28231
ENSG00000226167
AP4B1-AS1

44114
100287722
ENSG00000162999
DUSP19

18894
142679
ENSG00000176219
OR11H6

15349
122748
ENSG00000265996
MIR3671

38925
100500854
ENSG00000253008
MIR2355

38328
100423036
ENSG00000233006
AC034220.3


553103
ENSG00000205424
AL592528.1


100129027
ENSG00000235733
RP3-522P13.3


101928663
ENSG00000199135
MIR101-1

31488
406893
ENSG00000265694
MIR4774

41873
100616356
ENSG00000225986
UBXN10-AS1

41141
101928017
ENSG00000235527
RP5-1073O3.7


101928846
ENSG00000176198
OR11H4

15347
390442
ENSG00000227617
CERS6-AS1

44485
100861402
ENSG00000176485
PLA2G16

17825
11145
ENSG00000234902
AC007879.2


101927865
ENSG00000236963
LINC01141

49455
339505
ENSG00000231421
AC006050.2


101927093
ENSG00000250606
PRSS3P2

43788
154754
ENSG00000188783
PRELP

9357
5549
ENSG00000169251
NMD3

24250
51068
ENSG00000123106
CCDC91

24855
55297
ENSG00000203722
RAET1G

16795
353091
ENSG00000117000
RLF

10025
6018
ENSG00000100077
ADRBK2

290
157
ENSG00000246985
SOCS2-AS1

27054
144481
ENSG00000223725
AC007879.5


101927887
ENSG00000263597
MIR3936

38947
100500865
ENSG00000123552
USP45

20080
85015
ENSG00000179073
TAAR3

4513
9288
ENSG00000226259
GTF2H2B

31393
653238
ENSG00000215424
MCM3AP-AS1

16417
101928862
ENSG00000215424
MCM3AP-AS1

16417
114044
ENSG00000178445
GLDC
GLYCINE ENCEPHALOPATHY
4313
2731
ENSG00000178445
GLDC
Atypical glycine encephalopathy
4313
2731
ENSG00000178445
GLDC
Infantile glycine encephalopathy
4313
2731
ENSG00000178445
GLDC
Neonatal glycine encephalopathy
4313
2731
ENSG00000178445
GLDC
GLDC-Related Glycine Encephalopathy
4313
2731
ENSG00000223478
RP11-545E17.3


100506100
ENSG00000117242
PINK1-AS

38872
100861548
ENSG00000107864
CPEB3

21746
22849
ENSG00000206172
HBA1
ALPHA-THALASSEMIA
4823
3040
ENSG00000206172
HBA1
HEINZ BODY ANEMIAS
4823
3040
ENSG00000206172
HBA1
HEMOGLOBIN H DISEASE
4823
3040
ENSG00000206172
HBA1
HEMOGLOBIN--ALPHA LOCUS 1
4823
3040
ENSG00000206172
HBA1
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
4823
3040
ENSG00000206172
HBA1
Hb Bart's Hydrops Fetalis
4823
3040
ENSG00000206172
HBA1
Hemoglobin M disease
4823
3040
ENSG00000206172
HBA1
ALPHA-THALASSEMIA
4823
3039
ENSG00000206172
HBA1
HEINZ BODY ANEMIAS
4823
3039
ENSG00000206172
HBA1
HEMOGLOBIN H DISEASE
4823
3039
ENSG00000206172
HBA1
HEMOGLOBIN--ALPHA LOCUS 1
4823
3039
ENSG00000206172
HBA1
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16
4823
3039
ENSG00000206172
HBA1
Hb Bart's Hydrops Fetalis
4823
3039
ENSG00000206172
HBA1
Hemoglobin M disease
4823
3039
ENSG00000225765
AC068535.3


101927331
ENSG00000216436
HIST1H2APS1

18720
387319
ENSG00000261777
RP11-529K1.2


100506083
ENSG00000211941
IGHV3-11

5580
100293211
ENSG00000221628
MIR1302-4

35296
100302130
ENSG00000183169
POM121L1P

16439
25812
ENSG00000102032
RENBP

9959
5973
ENSG00000265688
MAFG-AS1

43649
92659
ENSG00000170390
DCLK2

19002
166614
ENSG00000227466
RP11-397C12.1


101927139
ENSG00000223442
AC004041.2


101930600
ENSG00000223442
AC004041.2


101927761
ENSG00000249383
RP11-1018N14.1


101927274
ENSG00000188770
OPTC

8158
26254
ENSG00000206754
SNORD101

32764
594837
ENSG00000272589
ZSWIM8-AS1

45103
100507331
ENSG00000261613
RP11-20I23.13


645644
ENSG00000221500
SNORD100

32763
594838
ENSG00000211942
IGHV3-13

5581
101930405
ENSG00000035115
SH3YL1

29546
26751
ENSG00000221808
MIR1256

35321
100302155
ENSG00000200534
SNORA33

32623
594839
ENSG00000223793
HLA-DQA2

4943
3118
ENSG00000264720
MIR3117

38385
100422871
ENSG00000109062
SLC9A3R1
NEPHROLITHIASIS/OSTEOPOROSIS HYPOPHOSPHATEMIC 2
11075
9368
ENSG00000109062
SLC9A3R1
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
11075
9368
ENSG00000225860
RP11-1018N14.2


440446
ENSG00000146410
MTFR2

21115
113115
ENSG00000215834
FMO9P

32210
116123
ENSG00000184743
ATL3
Hereditary sensory and autonomic neuropathy type 1
24526
25923
ENSG00000144560
VGLL4

28966
9686
ENSG00000124160
NCOA5

15909
57727
ENSG00000253103
RP11-946L20.4


101927487
ENSG00000118961
C2orf43

26145
60526
ENSG00000235597
LINC01102

27165
150568
ENSG00000264900
MIR4775

41885
100616361
ENSG00000064995
TAF11

11544
6882
ENSG00000114784
EIF1B

30792
10289
ENSG00000159164
SV2A

20566
9900
ENSG00000204055
RP11-247A12.2


101930611
ENSG00000262902
RP11-750B16.1


101927337
ENSG00000234781
LINC01103

49225
101927360
ENSG00000029639
TFB1M
Mitochondrial non-syndromic sensorineural deafness
17037
51106
ENSG00000006756
ARSD

717
414
ENSG00000099849
RASSF7

1166
8045
ENSG00000231105
RP5-1071N3.1


100506801
ENSG00000230612
AC004237.1


101927783
ENSG00000264229
RNU4ATAC
Microcephalic osteodysplastic primordial dwarfism types I and III
34016
100151683
ENSG00000264229
RNU4ATAC
ROIFMAN SYNDROME
34016
100151683
ENSG00000264229
RNU4ATAC
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II
34016
100151683
ENSG00000253236
CTD-2313P7.1


101927835
ENSG00000260404
RP11-384K6.6


101926918
ENSG00000260404
RP11-384K6.6


729218
ENSG00000231023
LINC00326

41926
285735
ENSG00000231814
LINC00210

37458
100885798
ENSG00000232284
GNG12-AS1

43938
100289178
ENSG00000226225
RPS18

10401
6222
ENSG00000124549
BTN2A3P

13229
54718
ENSG00000188800
TMCO2

23312
127391
ENSG00000224307
RP11-344B5.2


101929331
ENSG00000232100
RP11-152L7.2


101929631
ENSG00000013441
CLK1

2068
1195
ENSG00000236859
NIFK-AS1

27385
254128
ENSG00000176438
SYNE3

19861
161176
ENSG00000225892
RP11-384K6.2


101930466
ENSG00000223542
RP1-283K11.3


101928164
ENSG00000223542
RP1-283K11.3


100507308
ENSG00000172977
KAT5

5275
10524
ENSG00000179165
PXT1

18312
222659
ENSG00000163811
WDR43

28945
23160
ENSG00000141452
C18orf8

24326
29919
ENSG00000182902
SLC25A18

10988
83733
ENSG00000232480
RP11-224O19.2


728463
ENSG00000227954
RP3-323P13.2


100507308
ENSG00000137802
MAPKBP1
Juvenile nephronophthisis
29536
23005
ENSG00000137802
MAPKBP1
Late-onset nephronophthisis
29536
23005
ENSG00000221227
MIR1305

35303
100302270
ENSG00000163002
NUP35

29797
129401
ENSG00000261150
EPPK1

15577
83481
ENSG00000243710
WDR65
VAN DER WOUDE SYNDROME 2
26485
149465
ENSG00000189419
SPATA41

48613
388182
ENSG00000177427
MIEF2

17920
125170
ENSG00000221203
MIR1262

35328
100302279
ENSG00000238399
MIR2053

37069
100302225
ENSG00000226803
RP11-203B9.4


101927211
ENSG00000139579
NABP2

28412
79035
ENSG00000186132
C2orf76

27017
130355
ENSG00000221705
SNORA11E

33623
101340250
ENSG00000221705
SNORA11E

33623
100124541
ENSG00000167600
CYP2S1

15654
29785
ENSG00000221475
SNORA11D

33622
101340250
ENSG00000221475
SNORA11D

33622
100124541
ENSG00000124074
ENKD1

25246
84080
ENSG00000230219
FAM92A1P2

32287
403315
ENSG00000183795
BPY2B

25449
442868
ENSG00000183795
BPY2B

25449
442867
ENSG00000183795
BPY2B

25449
9083
ENSG00000259055
RP11-1140I5.1


101927570
ENSG00000131015
ULBP2

14894
80328
ENSG00000228813
HLA-DQB2

4945
3120
ENSG00000223842
RP11-135J2.3


101929648
ENSG00000228528
AC068057.1


101927383
ENSG00000086506
HBQ1

4833
3049
ENSG00000270127
RP11-526I2.5


441733
ENSG00000168032
ENTPD3

3365
956
ENSG00000230024
RP11-95P13.1


101929689
ENSG00000008196
TFAP2B
CHAR SYNDROME
11743
7021
ENSG00000008196
TFAP2B
Familial patent arterial duct
11743
7021
ENSG00000229738
AC010240.3


11017
ENSG00000251359
WWC2-AS2

26390
152641
ENSG00000228127
RP11-12L8.1


101928995
ENSG00000223586
RP4-662A9.2


154089
ENSG00000258479
LINC00640

44291
283553
ENSG00000253181
RP11-863K10.2


101929622
ENSG00000234177
LINC01114

49245
284998
ENSG00000216753
HMGA1P7

19122
387065
ENSG00000264512
MIR5692A1

43533
100847066
ENSG00000264512
MIR5692A1

43533
100847038
ENSG00000264512
MIR5692A1

43466
100847066
ENSG00000264512
MIR5692A1

43466
100847038
ENSG00000228223
HCG11

17707
493812
ENSG00000251128
WWC2-AS1

41041
101928734
ENSG00000146143
PRIM2

9370
100996481
ENSG00000146143
PRIM2

9370
5558
ENSG00000101017
CD40
Immunodeficiency with hyper IgM type 3
11919
958
ENSG00000101017
CD40
Hyper-IgM syndrome type 3
11919
958
ENSG00000249917
LINC00536

43645
100859921
ENSG00000234264
RP4-694A7.4


101927220
ENSG00000233170
RP11-863K10.4


728024
ENSG00000146872
TLK2
TLK2 syndrome
11842
11011
ENSG00000084073
ZMPSTE24
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
12877
10269
ENSG00000084073
ZMPSTE24
RESTRICTIVE DERMOPATHY LETHAL
12877
10269
ENSG00000084073
ZMPSTE24
HUTCHINSON-GILFORD PROGERIA SYNDROME
12877
10269
ENSG00000084073
ZMPSTE24
Lethal Restrictive Dermopathy ZMPSTE24-Related
12877
10269
ENSG00000207590
MIR215

31592
406997
ENSG00000203865
ATP1A1OS

28262
84852
ENSG00000254402
LRRC24

28947
441381
ENSG00000207624
MIR194-1

31564
406969
ENSG00000112078
KCTD20

21052
222658
ENSG00000151846
PABPC3

8556
5042
ENSG00000104918
RETN

20389
56729
ENSG00000266206
MIR3926-2

38959
100500870
ENSG00000266206
MIR3926-2

38959
100500838
ENSG00000266206
MIR3926-2

38883
100500870
ENSG00000266206
MIR3926-2

38883
100500838
ENSG00000228397
RP1-224A6.3


101928043
ENSG00000196152
ZNF79

13153
7633
ENSG00000245958
RP11-33B1.1


101926979
ENSG00000245958
RP11-33B1.1


645513
ENSG00000258537
FRMD6-AS2

43637
100874185
ENSG00000254813
RP11-252C15.1


340357
ENSG00000233151
CYP21A2
ADRENAL HYPERPLASIA CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY
2600
1589
ENSG00000265371
MIR3198-2

41766
100616400
ENSG00000222370
SNORA36B

32629
100302234
ENSG00000222370
SNORA36B

32629
677818
ENSG00000218510
LINC00339

25011
29092
ENSG00000232648
RP11-367N14.2


389247
ENSG00000199122
MIR148B

31761
442892
ENSG00000198783
ZNF830

28291
91603
ENSG00000165566
AMER2

26360
219287
ENSG00000233154
RP4-655J12.4


101929023
ENSG00000058668
ATP2B4

817
493
ENSG00000215154
AC141586.5


652276
ENSG00000090487
SPG21
MAST SYNDROME
20373
51324
ENSG00000090487
SPG21
Autosomal recessive spastic paraplegia type 21
20373
51324
ENSG00000184014
DENND5A
Epileptic encephalopathy
19344
23258
ENSG00000264793
MIR4771-1

41901
100616370
ENSG00000264793
MIR4771-1

41901
100616165
ENSG00000264793
MIR4771-1

41774
100616370
ENSG00000264793
MIR4771-1

41774
100616165
ENSG00000258535
RP11-280K24.4


101927598
ENSG00000250125
RP11-707A18.1


401134
ENSG00000198060
5-Mar

26025
54708
ENSG00000084731
KIF3C

6321
3797
ENSG00000229359
PIN1P1

8989
5301
ENSG00000261683
LINC00838

44963
100505583
ENSG00000255494
LINC00681

44423
101409254
ENSG00000231605
RP11-277B15.2


101928484
ENSG00000213468
RP11-453F18__B.1


286467
ENSG00000207836
MIR650

32906
723778
ENSG00000183019
C19orf59

27291
199675
ENSG00000213981
AC007277.3


100130256
ENSG00000266564
MIR4418

41789
100616433
ENSG00000197301
RP11-366L20.2


101927810
ENSG00000204054
LINC00963

48716
100506190
ENSG00000151388
ADAMTS12

14605
81792
ENSG00000225111
AC083900.1


101927912
ENSG00000261584
RP11-457M11.5


101929855
ENSG00000265422
MIR4684

41695
100616391
ENSG00000255419
MSH5-SAPCD1

41994
401251
ENSG00000234350
AC007405.4


101926913
ENSG00000180712
RP11-290F5.2


728175
ENSG00000232759
AC002480.3


100506178
ENSG00000264014
MIR4253

38231
100422914
ENSG00000241549
GUSBP2

18792
387036
ENSG00000250846
RP11-807H7.1


100144602
ENSG00000112312
GMNN
Ear-patella-short stature syndrome
17493
51053
ENSG00000112312
GMNN
Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
17493
51053
ENSG00000139505
MTMR6

7453
9107
ENSG00000157399
ARSE
CHONDRODYSPLASIA PUNCTATA 1 X-LINKED RECESSIVE
719
415
ENSG00000157399
ARSE
Brachytelephalangic chondrodysplasia punctata
719
415
ENSG00000157399
ARSE
Chondrodysplasia Punctata 1 X-Linked
719
415
ENSG00000226386
PARD3-AS1

44964
100505601
ENSG00000197958
RPL12

10302
6136
ENSG00000110619
CARS
Inflammatory myofibroblastic tumor
1493
833
ENSG00000236700
LINC01010

48978
154092
ENSG00000263793
MIR3115

38371
100422866
ENSG00000264419
MIR548AC

41626
100616384
ENSG00000159761
C16orf86

33755
388284
ENSG00000258499
RP11-862G15.2


101929002
ENSG00000266802
MIR4419A

41828
100616177
ENSG00000211543
MIR320B1

35247
100302117
ENSG00000075340
ADD2

244
119
ENSG00000213563
C8orf82

33826
414919
ENSG00000229051
RP5-952N6.1


101927244
ENSG00000064999
ANKS1A

20961
23294
ENSG00000171564
FGB
AFIBRINOGENEMIA CONGENITAL
3662
2244
ENSG00000171564
FGB
Familial afibrinogenemia
3662
2244
ENSG00000171564
FGB
Familial dysfibrinogenemia
3662
2244
ENSG00000171564
FGB
Familial hypodysfibrinogenemia
3662
2244
ENSG00000171564
FGB
Familial hypofibrinogenemia
3662
2244
ENSG00000258730
ITPK1-AS1

20132
319085
ENSG00000179420
OR6W1P

15091
89883
ENSG00000101188
NTSR1

8039
4923
ENSG00000204197
KIFC1

6389
3833
ENSG00000007392
LUC7L

6723
55692
ENSG00000177738
CTD-2201E18.3


648987
ENSG00000232310
RP11-557H15.4


101928304
ENSG00000260324
TMEM236

23473
101928799
ENSG00000260324
TMEM236

23473
653567
ENSG00000112378
PERP

17637
64065
ENSG00000109084
TMEM97

28106
27346
ENSG00000222041
LINC00152

28717
541471
ENSG00000222041
LINC00152

28717
112597
ENSG00000169756
LIMS1

6616
100288695
ENSG00000169756
LIMS1

6616
3987
ENSG00000184897
H1FX

4722
8971
ENSG00000230267
HERC2P4

4872
100289574
ENSG00000230701
FBXW4P1

13609
26226
ENSG00000253932
RP11-10C8.2


101930286
ENSG00000253932
RP11-10C8.2


101930149
ENSG00000221563
MIR1269A

35337
100302177
ENSG00000207721
MIR186

31557
406962
ENSG00000111981
ULBP1

14893
80329
ENSG00000266228
MIR3611

38914
100500890
ENSG00000108405
P2RX1

8533
5023
ENSG00000260565
ERVK13-1

27548
100507321
ENSG00000221545
MIR1255B2

35367
100313835
ENSG00000224843
LINC00240

18772
100133205
ENSG00000236802
B3GALT4

919
8705
ENSG00000212017
MIR548U

38316
100422884
ENSG00000123243
ITIH5

21449
80760
ENSG00000164733
CTSB

2527
1508
ENSG00000231908
IDH1-AS1

40292
100507475
ENSG00000181029
TRAPPC5

23067
126003
ENSG00000250075
RP11-584P21.2


101927237
ENSG00000260314
MRC1

7228
101928757
ENSG00000260314
MRC1

7228
4360
ENSG00000206298
PSMB8
AUTOINFLAMMATION LIPODYSTROPHY AND DERMATOSIS SYNDROME
9545
5696
ENSG00000206298
PSMB8
Nakajo syndrome
9545
5696
ENSG00000229956
ZRANB2-AS2

43595
100852410
ENSG00000232160
RAP2C-AS1

40957
101928578
ENSG00000172771
EFCAB12

28061
90288
ENSG00000006114
SYNRG

557
11276
ENSG00000141098
GFOD2

28159
81577
ENSG00000236137
RP11-27K13.3


101929099
ENSG00000205929
C21orf62

1305
56245
ENSG00000236389
RP1-287H17.1


101928277
ENSG00000231273
RP11-343D24.2


101927293
ENSG00000236810
RP5-886K2.3


100506963
ENSG00000232139
LINC00867

45265
100506126
ENSG00000238078
RP11-295M18.2


101929730
ENSG00000215930
MIR942

33688
100126331
ENSG00000214262
ANKRD36BP1

28169
84832
ENSG00000265565
MIR3143

38284
100422934
ENSG00000076513
ANKRD13A

21268
88455
ENSG00000205913
SRRM2-AS1

44162
100128788
ENSG00000101189
MRGBP

15866
55257
ENSG00000270673
YTHDF3-AS1

48728
101410533
ENSG00000005156
LIG3

6600
3980
ENSG00000131100
ATP6V1E1
Autosomal recessive cutis laxa type 2 classic type
857
529
ENSG00000257551
HLA-AS1

42509
100873924
ENSG00000136319
TTC5

19274
91875
ENSG00000248049
UBA6-AS1

49083
550112
ENSG00000207974
MIR557

32813
693142
ENSG00000136250
AOAH

548
313
ENSG00000228697
RP5-968D22.1


100505918
ENSG00000133454
MYO18B
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
18150
84700
ENSG00000164506
STXBP5

19665
134957
ENSG00000272382
CTD-2035E11.4


101927030
ENSG00000220758
VN1R10P

13550
387316