DisGeNET - a database of gene-disease associations

ADAT3, adenosine deaminase tRNA specific 3, 113179

N. diseases: 25; N. variants: 2

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs730882213

Entrez Id:	113178;113179
Gene Symbol:	SCAMP4;ADAT3

SCAMP4;ADAT3

CUI:	C1843367
Disease:

Poor school performance

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882213

Entrez Id:	113178;113179
Gene Symbol:	SCAMP4;ADAT3

SCAMP4;ADAT3

CUI:	C1843367
Disease:

Poor school performance

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882213

Entrez Id:	113178;113179
Gene Symbol:	SCAMP4;ADAT3

SCAMP4;ADAT3

CUI:	C3809039
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730882213

Entrez Id:	113178;113179
Gene Symbol:	SCAMP4;ADAT3

SCAMP4;ADAT3

CUI:	C3809039
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882213

Entrez Id:	113178;113179
Gene Symbol:	SCAMP4;ADAT3

SCAMP4;ADAT3

CUI:	C0038379
Disease:

Strabismus

0.700

GeneticVariation

CLINVAR

dbSNP:

rs746859902

Entrez Id:	113178;113179
Gene Symbol:	SCAMP4;ADAT3

SCAMP4;ADAT3

CUI:	C3809039
Disease:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36

GCCGGGAGC

0.700

CausalMutation

CLINVAR

dbSNP:

rs730882213

Entrez Id:	113178;113179
Gene Symbol:	SCAMP4;ADAT3

SCAMP4;ADAT3

CUI:	C3714756
Disease:

Intellectual Disability

0.010

GeneticVariation

BEFREE

Here, we show that cell lines derived from ID-affected individuals expressing only ADAT3-V144M exhibit decreased wobble inosine in certain tRNAs.

31263000

2019