DisGeNET - a database of gene-disease associations

HAAO, 3-hydroxyanthranilate 3,4-dioxygenase, 23498

N. diseases: 47; N. variants: 4

Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 ×

Source: ALL

Results per page

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C4540004
Disease:	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1

0.600

CausalMutation

disease

CLINVAR

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

28792876

2017

CUI:	C4540004
Disease:	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1

0.600

Biomarker

disease

GENOMICS_ENGLAND

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

28792876

2017

CUI:	C4540004
Disease:	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1

0.600

GermlineCausalMutation

disease

ORPHANET

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

28792876

2017