ADPRS, ADP-ribosylserine hydrolase, 54936

N. diseases: 30; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.600 Biomarker disease GENOMICS_ENGLAND
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.600 GeneticVariation disease CLINVAR
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.400 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
0.100 Biomarker phenotype HPO
CUI: C0033377
Disease: Ptosis
Ptosis
0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor
0.100 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
0.100 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.100 Biomarker disease HPO
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue
0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.100 Biomarker disease HPO
CUI: C1832338
Disease: Axonal loss
Axonal loss
0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech
0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
0.100 Biomarker phenotype HPO
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
0.010 GeneticVariation disease BEFREE ARH is rare except in Sardinia where three alleles (ARH1, ARH2 and ARH3) explain most of cases. 19477448 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE In order to assess the variation in expression of poly(ADP-ribose) polymerase (PARP) family members and the hydrolases that degrade the poly(ADP-ribose) polymers they generate and possible associations with classical pathological parameters, including long-term outcome, the mRNA levels of PARP1, PARP2, PARP3, poly(ADP-ribose) glycohydrolase (PARG) and ADP-ribosylhydrolase 3 (ARH3) were examined using quantitative reverse transcription polymerase chain reaction in 443 unilateral invasive breast cancers and linked to hormonal status, tumor proliferation and clinical outcome. 23736962 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 Biomarker group BEFREE Variations in the mRNA expression of poly(ADP-ribose) polymerases, poly(ADP-ribose) glycohydrolase and ADP-ribosylhydrolase 3 in breast tumors and impact on clinical outcome. 23736962 2013
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
0.600 GeneticVariation disease UNIPROT Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 30100084 2018
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.400 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 30100084 2018