DisGeNET - a database of gene-disease associations

rs727503094, LRRC56;HRAS

N. diseases: 41

Disease: Organoid Nevus Phakomatosis ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Organoid Nevus Phakomatosis

CUI:	C0265329
Disease:	Organoid Nevus Phakomatosis

0.010

GeneticVariation

BEFREE

We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation.

2019