AGTPBP1, ATP/GTP binding protein 1, 23287

N. diseases: 3; N. variants: 10
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760300826
rs760300826
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C4748934
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
0.800 GeneticVariation UNIPROT Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. 30420557 2018
dbSNP: rs760300826
rs760300826
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C4748934
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
A 0.800 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0239548
Disease:
Fasciculation, Tongue
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C3277226
Disease:
Restrictive ventilatory defect
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1856694
Disease:
Areflexia of lower limbs
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1856117
Disease:
Uplifted earlobe
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1865304
Disease:
Overfolding of the superior helices
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0011168
Disease:
Deglutition Disorders
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0520679
Disease:
Sleep Apnea, Obstructive
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1865186
Disease:
Bell-shaped thorax
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0575802
Disease:
Small hand
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C4551563
Disease:
Microcephaly (physical finding)
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0426790
Disease:
Narrow thorax
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C4748934
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1848673
Disease:
Hypoplastic feet
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C3553450
Disease:
Profound global developmental delay
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0740279
Disease:
Cerebellar atrophy
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0423082
Disease:
Hypometric saccades
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0240635
Disease:
Byzanthine arch palate
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0271683
Disease:
Polyneuropathy, Motor
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1858120
Disease:
Generalized hypotonia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1145670
Disease:
Respiratory Failure
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0151786
Disease:
Muscle Weakness
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1837108
Disease:
Decreased muscle mass
A 0.700 CausalMutation CLINVAR
dbSNP: rs1554699491
rs1554699491
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0264303
Disease:
Laryngomalacia
A 0.700 CausalMutation CLINVAR