Source: ALL

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: 6658
Gene Symbol: SOX3
SOX3 		SRY-box transcription factor 3 0.535 0.731 0.45
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.100 None 0 0
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5 		ATP binding cassette subfamily A member 5 0.736 0.423 4.8E-27
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.100 None 0 0
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.060 None 1.000 6 0 2005 2014
Entrez Id: 596
Gene Symbol: BCL2
BCL2 		BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.020 None 1.000 2 0 2000 2019
Entrez Id: 6046
Gene Symbol: BRD2
BRD2 		bromodomain containing 2 0.450 0.808 1.00
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		synaptosome associated protein 25 0.489 0.808 0.99
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6770
Gene Symbol: STAR
STAR 		steroidogenic acute regulatory protein 0.513 0.808 8.8E-11
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6780
Gene Symbol: STAU1
STAU1 		staufen double-stranded RNA binding protein 1 0.729 0.423 1.00
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 595
Gene Symbol: CCND1
CCND1 		cyclin D1 0.344 0.923 0.89
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 174
Gene Symbol: AFP
AFP 		alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2 		erb-b2 receptor tyrosine kinase 2 0.328 0.923 6.0E-03
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 208
Gene Symbol: AKT2
AKT2 		AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 2258
Gene Symbol: FGF13
FGF13 		fibroblast growth factor 13 0.514 0.808 0.89
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		GATA binding protein 4 0.458 0.846 0.49
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 2668
Gene Symbol: GDNF
GDNF 		glial cell derived neurotrophic factor 0.434 0.885 0.20
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3791
Gene Symbol: KDR
KDR 		kinase insert domain receptor 0.378 0.885 1.00
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 100133941
Gene Symbol: CD24
CD24 		CD24 molecule 0.472 0.769
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9656
Gene Symbol: MDC1
MDC1 		mediator of DNA damage checkpoint 1 0.628 0.692 2.3E-08
CUI: C1855900
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERTRICHOSIS, CONGENITAL GENERALIZED 		disease 0.010 None 1.000 1 0 2019 2019