DisGeNET - a database of gene-disease associations

rs104894195, AIP

N. diseases: 4

Disease: Acromegaly ×

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

Acromegaly

CUI:	C0001206
Disease:	Acromegaly

0.010

GeneticVariation

BEFREE

After genetic and clinical screening of the family, two R304* carriers were diagnosed with acromegaly.

2014