Source: RGD

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: 3569
Gene Symbol: IL6
IL6 		interleukin 6 0.248 0.962 0.32
CUI: C0004096
Disease: Asthma
Asthma 		disease 0.600 None 0.955 0 0 1992 2020
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A 		PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease 0.220 None 1.000 0 0 2013 2014
Entrez Id: 2660
Gene Symbol: MSTN
MSTN 		myostatin 0.528 0.731 0.51
CUI: C0041948
Disease: Uremia
Uremia 		disease 0.210 None 1.000 0 0 2011 2011
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A 		PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease 0.200 None 0 0
Entrez Id: 4583
Gene Symbol: MUC2
MUC2 		mucin 2, oligomeric mucus/gel-forming 0.486 0.808 9.4E-10
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		disease 0.200 None 0 0
Entrez Id: 6372
Gene Symbol: CXCL6
CXCL6 		C-X-C motif chemokine ligand 6 0.582 0.692 2.7E-09
CUI: C0033581
Disease: prostatitis
prostatitis 		disease 0.200 None 0 0
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 1.000 None 0.979 1 0 1989 2020
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		disease 1.000 strong 0.965 1 0 1992 2019
Entrez Id: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease 1.000 None 0.982 1 0 1968 2019
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2 		ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		disease 1.000 strong 1.000 1 0 1996 2020
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 1.000 moderate 1.000 1 0 1994 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease 1.000 definitive 0.985 1 0 1991 2020
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 None 0.942 1 0 1992 2019
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease 1.000 strong 0.961 1 0 1989 2020
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease 1.000 None 0.966 1 0 1970 2019
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 1.000 limited 0.982 1 0 1992 2020
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease 1.000 None 0.982 1 0 1978 2020
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		disease 1.000 None 0.974 1 0 1994 2018
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		disease 1.000 None 0.984 1 0 1986 2020
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		disease 1.000 definitive 1.000 1 0 1995 2020
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI 		disease 1.000 strong 1.000 1 0 1979 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 1.000 definitive 0.977 1 0 1975 2020
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 1.000 None 0.969 1 0 1994 2020
Entrez Id: 4352
Gene Symbol: MPL
MPL 		MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 1.000 None 0.978 1 0 1995 2020
Entrez Id: 443
Gene Symbol: ASPA
ASPA 		aspartoacylase 0.564 0.731 4.1E-04
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		disease 1.000 strong 0.967 1 0 1990 2020