DisGeNET - a database of gene-disease associations

Source: CLINVAR

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	347365
Gene Symbol:	ITIH6

ITIH6

inter-alpha-trypsin inhibitor heavy chain family member 6

1.5E-24

CUI:	C0349588
Disease:	Short stature

Short stature

phenotype

0.100

None