DisGeNET - a database of gene-disease associations

rs189261858, LOC101928462;TSHR

N. diseases: 8

Disease: Spindle cell hemangioma ×

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

Spindle cell hemangioma

CUI:	C1304508
Disease:	Spindle cell hemangioma

0.010

GeneticVariation

BEFREE

The previously reported hotspot mutation p.R450H was found in only one SCH patient.

2016