rs200455852, ASAH1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Jankovic Rivera syndrome
CUI: C1834569
Disease: Jankovic Rivera syndrome
0.710 GeneticVariation BEFREE Subsequent Sanger-sequencing identified the splice mutation responsible for the isoform (c.504A>C;p.Lys168Asn) and provided a molecular diagnosis of autosomal-recessive spinal muscular atrophy with progressive myoclonic epilepsy. 28251733 2017
Jankovic Rivera syndrome
CUI: C1834569
Disease: Jankovic Rivera syndrome
0.710 CausalMutation CLINVAR
Tremor
CUI: C0040822
Disease: Tremor
0.700 CausalMutation CLINVAR
Progressive neurologic deterioration
CUI: C1854838
Disease: Progressive neurologic deterioration
0.700 CausalMutation CLINVAR
Cerebral cortex myoclonus
CUI: C3698239
Disease: Cerebral cortex myoclonus
0.700 CausalMutation CLINVAR
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
0.700 CausalMutation CLINVAR
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.700 CausalMutation CLINVAR