ADPRS, ADP-ribosylserine hydrolase, 54936

N. diseases: 30; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200626873
rs200626873
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
dbSNP: rs200626873
rs200626873
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 		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
dbSNP: rs200626873
rs200626873
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1557732234
rs1557732234
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557733311
rs1557733311
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1557733367
rs1557733367
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1557733597
rs1557733597
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1557734377
rs1557734377
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368433666
rs368433666
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs368433666
rs368433666
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C4748527
Disease:
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 		T 0.700 CausalMutation CLINVAR
dbSNP: rs142723316
rs142723316
Entrez Id: 27285;54936
Gene Symbol: TEKT2;ADPRS
TEKT2;ADPRS
CUI: C0403823
Disease:
Asthenozoospermia 		0.010 GeneticVariation BEFREE A possible association of a human tektin-t gene mutation (A229V) with isolated non-syndromic asthenozoospermia: case report. 18227105 2008