ADPRS, ADP-ribosylserine hydrolase, 54936

N. diseases: 30; N. variants: 9
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201735454
rs201735454
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		0.800 GeneticVariation UNIPROT Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. 30401461 2018
dbSNP: rs201735454
rs201735454
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		G 0.800 CausalMutation CLINVAR Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. 30401461 2018
dbSNP: rs201735454
rs201735454
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		0.800 GeneticVariation UNIPROT Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 30100084 2018