DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Phacomatosis pigmentokeratotica ×

Gene: HRAS ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C2931658
Disease:	Phacomatosis pigmentokeratotica

Phacomatosis pigmentokeratotica

0.540

Biomarker

GENOMICS_ENGLAND

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

24006476

2014

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C2931658
Disease:	Phacomatosis pigmentokeratotica

Phacomatosis pigmentokeratotica

0.540

SomaticCausalMutation

ORPHANET

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

23337891

2013

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C2931658
Disease:	Phacomatosis pigmentokeratotica

Phacomatosis pigmentokeratotica

0.540

Biomarker

GENOMICS_ENGLAND

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

16170316

2005

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C2931658
Disease:	Phacomatosis pigmentokeratotica

Phacomatosis pigmentokeratotica

0.540

Biomarker

GENOMICS_ENGLAND