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: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 1.000 1 2 2009 2009
Entrez Id: 576
Gene Symbol: ADGRB2
ADGRB2 		adhesion G protein-coupled receptor B2 0.890 0.192 1.00
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7874
Gene Symbol: USP7
USP7 		ubiquitin specific peptidase 7 0.538 0.808 1.00
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		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: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		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: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 2
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 1
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT 		heparan-alpha-glucosaminide N-acetyltransferase 0.628 0.577 6.3E-08
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 1