DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Hypoplasia of lower limb ×

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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:	9321
Gene Symbol:	TRIP11

TRIP11

CUI:	C0345371
Disease:	Hypoplasia of lower limb

Hypoplasia of lower limb

0.100

CausalMutation

CLINVAR

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0345371
Disease:	Hypoplasia of lower limb

Hypoplasia of lower limb

0.100

CausalMutation

CLINVAR