DisGeNET - a database of gene-disease associations

RETINITIS PIGMENTOSA 41 (disorder), C2677516

Source: ALL

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8842
Gene Symbol:	PROM1

PROM1

0.800

Biomarker

disease

MGD

Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration.

2009

Entrez Id:	8842
Gene Symbol:	PROM1

PROM1

0.800

CausalMutation

disease

CLINVAR

Entrez Id:	8842
Gene Symbol:	PROM1

PROM1

0.800

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	8842
Gene Symbol:	PROM1

PROM1

0.800

Biomarker

disease

CTD_human

Entrez Id:	8842
Gene Symbol:	PROM1

PROM1

0.800

GeneticVariation

disease

CLINVAR