Source: MGD

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: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 5 0 1994 2020
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 0.210 None 1.000 2 0 1978 2012
Entrez Id: 200734
Gene Symbol: SPRED2
SPRED2 		sprouty related EVH1 domain containing 2 0.711 0.577 2.9E-07
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 0.210 None 1.000 1 0 2005 2005
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH 		parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 0.210 None 1.000 1 0 1994 2012
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.300 None 0 0
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1 		solute carrier family 4 member 1 (Diego blood group) 0.522 0.731 0.85
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype 0.690 None 1.000 3 0 1996 2013
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4 		ATPase H+ transporting V0 subunit a4 0.722 0.385 2.2E-20
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype 0.210 None 1.000 1 0 2012 2018
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4 		solute carrier family 4 member 4 0.644 0.692 1.00
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype 0.540 None 1.000 1 0 2000 2011
Entrez Id: 128637
Gene Symbol: TBC1D20
TBC1D20 		TBC1 domain family member 20 0.621 0.500 0.93
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.200 None 1.000 2 0 2004 2013
Entrez Id: 22931
Gene Symbol: RAB18
RAB18 		RAB18, member RAS oncogene family 0.582 0.692 0.91
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease 0.200 None 1.000 2 0 2014 2015
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		interferon gamma 0.288 0.962 0.47
CUI: C0001308
Disease: Acute and subacute liver necrosis (disorder)
Acute and subacute liver necrosis (disorder) 		disease 0.200 None 0 0
Entrez Id: 56246
Gene Symbol: MRAP
MRAP 		melanocortin 2 receptor accessory protein 0.674 0.500 2.1E-03
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases 		group 0.200 None 0 0
Entrez Id: 2266
Gene Symbol: FGG
FGG 		fibrinogen gamma chain 0.633 0.615 5.0E-02
CUI: C0001733
Disease: Afibrinogenemia
Afibrinogenemia 		disease 0.530 None 1.000 2 0 2000 2004
Entrez Id: 2623
Gene Symbol: GATA1
GATA1 		GATA binding protein 1 0.483 0.808 0.95
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 0.290 None 1.000 2 0 2001 2020
Entrez Id: 9612
Gene Symbol: NCOR2
NCOR2 		nuclear receptor corepressor 2 0.601 0.692 1.00
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 0.200 None 1.000 2 0 2008 2013
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 1.000 None 0.968 1 0 2005 2020
Entrez Id: 4602
Gene Symbol: MYB
MYB 		MYB proto-oncogene, transcription factor 0.490 0.692 0.82
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 0.220 None 1.000 1 0 2007 2015
Entrez Id: 2672
Gene Symbol: GFI1
GFI1 		growth factor independent 1 transcriptional repressor 0.546 0.769 0.25
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease 0.200 None 0 0
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C0001916
Disease: Albinism
Albinism 		disease 0.330 None 1.000 6 0 1967 2019
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1 		solute carrier family 29 member 1 (Augustine blood group) 0.587 0.731 0.90
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease 0.520 None 1.000 1 0 2004 2018
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		disease 1.000 definitive 0.982 1 0 1955 2019
Entrez Id: 55711
Gene Symbol: FAR2
FAR2 		fatty acyl-CoA reductase 2 0.805 0.308 0.56
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.210 None 1.000 0 0 2018 2018
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease 0.300 None 1.000 0 0 1996 2018
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		phospholipase C beta 1 0.595 0.654 0.98
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.200 None 0 0
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.900 None 0.981 0 0 1987 2020