DisGeNET - a database of gene-disease associations

ALDH3A2, aldehyde dehydrogenase 3 family member A2, 224

N. diseases: 78; N. variants: 27

Disease: Little's Disease ×

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:	C0023882
Disease:	Little's Disease

Little's Disease

0.110

AlteredExpression

disease

BEFREE

The impaired activity of FALDH leads to the clinical symptom triad of generalized ichthyosis, mental retardation, and spastic diplegia or tetraplegia.

15834613

2005

CUI:	C0023882
Disease:	Little's Disease

Little's Disease

0.110

Biomarker

disease

HPO