Source: CLINVAR ×
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: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 81 0.534 0.769 1.00 0.100 None 0 1
Entrez Id: 80152
Gene Symbol: CENPT
CENPT
Q96BT3 centromere protein T 11 0.821 0.231 5.8E-06 0.100 None 0 1
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 20 0.631 0.577 1.00 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
Q9H8P0 steroid 5 alpha-reductase 3 41 0.604 0.692 2.5E-04 0.100 None 0 1
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 34 0.464 0.846 1.00 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
Q13207 T-box transcription factor 2 Transcription factor 36 0.544 0.769 0.99 0.100 None 0 1
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 62 0.485 0.808 1.00 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
Q96EK4 THAP domain containing 11 11 0.769 0.346 0.83 0.100 None 0 1
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 16 0.401 0.846 1.00 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 70 0.539 0.846 1.00 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
Q8N2C7 unc-80 homolog, NALCN channel complex subunit 63 0.626 0.462 5.2E-02 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 31 0.599 0.577 1.00 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 54 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
Q96RE7 nucleus accumbens associated 1 34 0.610 0.577 1.00 0.100 None 0 1
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
O75352 mannose-P-dolichol utilization defect 1 16 0.682 0.500 1.0E-05 0.100 None 0 1