DisGeNET - a database of gene-disease associations

AP3D1, adaptor related protein complex 3 subunit delta 1, 8943

N. diseases: 58; N. variants: 13

Disease: Albinism, Ocular ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0078917
Disease:	Albinism, Ocular

Albinism, Ocular

0.400

GeneticVariation

disease

ORPHANET

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

26744459

2016

CUI:	C0078917
Disease:	Albinism, Ocular

Albinism, Ocular

0.400

Biomarker

disease

HPO