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: 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: C2931645
Disease: Ochronosis, hereditary
Ochronosis, hereditary 		disease 0.300 definitive 1.000 6 0 1955 1998
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: 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: 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: C0162298
Disease: Joint stiffness
Joint stiffness 		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: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		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: C0152031
Disease: Joint swelling
Joint swelling 		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: C3278509
Disease: Spinal fusion
Spinal fusion 		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: C0033581
Disease: prostatitis
prostatitis 		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: 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: C0919997
Disease: Thickened Achilles tendon
Thickened Achilles tendon 		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: 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: C0853087
Disease: Nail abnormality
Nail abnormality 		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: 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: C0262361
Disease: Growth abnormality
Growth abnormality 		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: C0265736
Disease: Congenital anomaly of nose
Congenital anomaly of nose 		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: 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: 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: C0410607
Disease: Intervertebral disk calcification
Intervertebral disk 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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		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: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		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: C4025860
Disease: Hearing abnormality
Hearing abnormality 		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: 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: C0003862
Disease: Arthralgia
Arthralgia 		phenotype 0.100 None 0 0