DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Spotty hypopigmentation ×

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:	10058
Gene Symbol:	ABCB6

ABCB6

ATP binding cassette subfamily B member 6 (Langereis blood group)

0.431

0.885

8.6E-19

CUI:	C3806178
Disease:	Spotty hypopigmentation

Spotty hypopigmentation

phenotype

0.100

None

Entrez Id:	10682
Gene Symbol:	EBP

EBP

EBP cholestenol delta-isomerase

0.494

0.846

0.94

CUI:	C3806178
Disease:	Spotty hypopigmentation

Spotty hypopigmentation

phenotype

0.100

None

Entrez Id:	55612
Gene Symbol:	FERMT1

FERMT1

fermitin family member 1

0.599

0.577

2.9E-11

CUI:	C3806178
Disease:	Spotty hypopigmentation

Spotty hypopigmentation

phenotype

0.100

None

Entrez Id:	641
Gene Symbol:	BLM

BLM

BLM RecQ like helicase

0.535

0.808

1.5E-15

CUI:	C3806178
Disease:	Spotty hypopigmentation

Spotty hypopigmentation

phenotype

0.100

None

Entrez Id:	9419
Gene Symbol:	CRIPT

CRIPT

CXXC repeat containing interactor of PDZ3 domain

0.716

0.308

9.8E-04

CUI:	C3806178
Disease:	Spotty hypopigmentation

Spotty hypopigmentation

phenotype

0.100

None