Source: ORPHANET

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: 3651
Gene Symbol: PDX1
PDX1 		pancreatic and duodenal homeobox 1 0.530 0.654 1.8E-02
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.900 strong 0.970 2 0 1998 2019
Entrez Id: 3630
Gene Symbol: INS
INS 		insulin 0.445 0.923 0.30
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.900 strong 0.947 1 0 1997 2018
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		HNF1 homeobox A 0.478 0.846 0.96
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.700 strong 0.987 2 0 1995 2020
Entrez Id: 2645
Gene Symbol: GCK
GCK 		glucokinase 0.523 0.808 0.63
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.700 strong 0.978 2 0 1992 2020
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.700 strong 0.962 2 0 1995 2020
Entrez Id: 4760
Gene Symbol: NEUROD1
NEUROD1 		neuronal differentiation 1 0.543 0.808 0.77
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.700 strong 0.933 2 0 1999 2016
Entrez Id: 5078
Gene Symbol: PAX4
PAX4 		paired box 4 0.644 0.423 4.2E-04
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.660 limited 0.857 4 0 1999 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.660 strong 1.000 1 0 2009 2019
Entrez Id: 640
Gene Symbol: BLK
BLK 		BLK proto-oncogene, Src family tyrosine kinase 0.585 0.769 8.3E-14
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.620 limited 1.000 1 0 2009 2013
Entrez Id: 8462
Gene Symbol: KLF11
KLF11 		Kruppel like factor 11 0.626 0.654 8.3E-09
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.620 limited 1.000 1 0 2011 2019
Entrez Id: 1056
Gene Symbol: CEL
CEL 		carboxyl ester lipase 0.514 0.808 1.5E-06
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.450 None 1.000 1 0 2006 2015
Entrez Id: 26060
Gene Symbol: APPL1
APPL1 		adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 0.626 0.500 0.80
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.410 None < 0.001 1 0 2015 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease 0.340 None 1.000 1 0 2012 2019