DisGeNET - a database of gene-disease associations

rs28933068, FGFR3

N. diseases: 30

Disease: Hereditary Coproporphyria ×

Source: ALL

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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

Hereditary Coproporphyria

CUI:	C0162531
Disease:	Hereditary Coproporphyria

0.010

GeneticVariation

BEFREE

To our knowledge, ours is the first case report of HCP with a heterozygous 1620C>G (Asn540Lys) mutation in Turkey.

2012