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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C1859882
Disease: Pigmentation of the sclera
Pigmentation of the 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: 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: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		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: 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: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		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: 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: 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: C4021973
Disease: Cartilage destruction
Cartilage destruction 		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: 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: 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: C0003862
Disease: Arthralgia
Arthralgia 		phenotype 0.100 None 0 0