DisGeNET - a database of gene-disease associations

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, C1859817

Variant: rs745432268 ×

Source: ALL

Results per page

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs745432268

rs745432268

DHTKD1

T

0.700

CausalMutation

CLINVAR

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

2015