DisGeNET - a database of gene-disease associations

rs1135401743, HAAO;MTA3

N. diseases: 11

Disease: Short 1st metacarpal ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Short 1st metacarpal

CUI:	C1849311
Disease:	Short 1st metacarpal

0.700

CausalMutation

CLINVAR

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

2017