DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Thanatophoric dysplasia, type 1 ×

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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

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:	2261
Gene Symbol:	FGFR3

FGFR3

fibroblast growth factor receptor 3

0.391

0.846

1.6E-05

CUI:	C1300256
Disease:	Thanatophoric dysplasia, type 1

Thanatophoric dysplasia, type 1

disease

0.070

None

1.000

1996

2017