Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.090 None 1.000 9 0 1994 2007
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.030 None 1.000 3 0 1995 1996
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2013 2015
Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
immunoglobulin heavy variable 1-12 (pseudogene) 89 0.569 0.654 0.010 None 1.000 1 0 2003 2003
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 40 0.705 0.654 0.100 None 0 1
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 58 0.636 0.346 0.100 None 0 1
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
KCNQ1 opposite strand/antisense transcript 1 159 0.534 0.731 0.100 None 0 0
Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1
AQP4 antisense RNA 1 23 0.751 0.577 0.100 None 0 1
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 242 0.494 0.923 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 234 0.534 0.731 0.100 None 0 0
Entrez Id: 4568
Gene Symbol: TRNL2
TRNL2
tRNA 24 0.760 0.385 0.100 None 0 0
Entrez Id: 4570
Gene Symbol: TRNN
TRNN
tRNA 55 0.682 0.577 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 186 0.555 0.808 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY
Q05066 sex determining region Y Transcription factor 315 0.456 0.808 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 0
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
Q8N653 leucine zipper like transcription regulator 1 152 0.547 0.808 1.0E-92 0.100 None 1.000 1 1 2018 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.010 None 1.000 1 0 2010 2010
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 0 0
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
Q96HY7 dehydrogenase E1 and transketolase domain containing 1 28 0.711 0.385 2.8E-30 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
Q6PGP7 tetratricopeptide repeat domain 37 91 0.626 0.654 1.7E-29 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
P56730 serine protease 12 Enzyme 50 0.682 0.308 8.4E-29 0.100 None 0 0