DisGeNET - a database of gene-disease associations

Muscle hypotonia, C0026827

Gene: AP4B1 ×

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:

rs142209254

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

25693842

2016

dbSNP:

rs149705131

AP4B1 ; AP4B1-AS1

0.700

GeneticVariation

CLINVAR

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

25693842

2016

dbSNP:

rs1553259463

AP4B1

0.700

CausalMutation

CLINVAR

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

25693842

2016

dbSNP:

rs587779388

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

25693842

2016

dbSNP:

rs142209254

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

25552650

2015

dbSNP:

rs149705131

AP4B1 ; AP4B1-AS1

0.700

GeneticVariation

CLINVAR

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

25552650

2015

dbSNP:

rs1553259463

AP4B1

0.700

CausalMutation

CLINVAR

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

25552650

2015

dbSNP:

rs587779388

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

25552650

2015

dbSNP:

rs142209254

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Adaptor proteins involved in polarized sorting.

24395635

2014

dbSNP:

rs142209254

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

24700674

2014

dbSNP:

rs149705131

AP4B1 ; AP4B1-AS1

0.700

GeneticVariation

CLINVAR

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

24700674

2014

dbSNP:

rs149705131

AP4B1 ; AP4B1-AS1

0.700

GeneticVariation

CLINVAR

Adaptor proteins involved in polarized sorting.

24395635

2014

dbSNP:

rs1553259463

AP4B1

0.700

CausalMutation

CLINVAR

Adaptor proteins involved in polarized sorting.

24395635

2014

dbSNP:

rs1553259463

AP4B1

0.700

CausalMutation

CLINVAR

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

24700674

2014

dbSNP:

rs587779388

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Adaptor proteins involved in polarized sorting.

24395635

2014

dbSNP:

rs587779388

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

24700674

2014

dbSNP:

rs142209254

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

23167973

2013

dbSNP:

rs142209254

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

23472171

2013

dbSNP:

rs149705131

AP4B1 ; AP4B1-AS1

0.700

GeneticVariation

CLINVAR

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

23167973

2013

dbSNP:

rs149705131

AP4B1 ; AP4B1-AS1

0.700

GeneticVariation

CLINVAR

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

23472171

2013

dbSNP:

rs1553259463

AP4B1

0.700

CausalMutation

CLINVAR

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

23167973

2013

dbSNP:

rs1553259463

AP4B1

0.700

CausalMutation

CLINVAR

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

23472171

2013

dbSNP:

rs587779388

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

23472171

2013

dbSNP:

rs587779388

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

23167973

2013

dbSNP:

rs142209254

AP4B1 ; AP4B1-AS1

0.700

CausalMutation

CLINVAR

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

22290197

2012