DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Pigmentation of the sclera ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

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

Entrez Id:	5573
Gene Symbol:	PRKAR1A

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

0.401

0.846

1.00

CUI:	C1859882
Disease:	Pigmentation of the sclera

Pigmentation of the sclera

phenotype

0.100

None

0