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: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		disease 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group 0.030 None 1.000 3 0 2012 2019
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0001430
Disease: Adenoma
Adenoma 		group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		disease 0.010 None 1.000 1 0 2019 2019
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 56 68 1955 2019
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0003864
Disease: Arthritis
Arthritis 		disease 0.110 None 1.000 1 0 1998 1998
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0004604
Disease: Back Pain
Back Pain 		phenotype 0.110 None 1.000 1 0 2010 2010
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		disease 0.040 None 1.000 4 0 2012 2019
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C4022015
Disease: Calcification of cartilage
Calcification of cartilage 		phenotype 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		phenotype 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0919718
Disease: Calcification of mitral valve
Calcification of mitral valve 		disease 0.100 None 0 0
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype 0.020 None 1.000 2 0 2015 2018
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C4021973
Disease: Cartilage destruction
Cartilage destruction 		phenotype 0.100 None 0 0