Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.130 None 1.000 0 1 2013 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.120 None 1.000 0 1 2014 2018
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.110 None 1.000 0 3 2014 2014
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 6608
Gene Symbol: SMO
SMO
smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 2
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 5
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease 0.100 None 0 2