ASAH1, N-acylsphingosine amidohydrolase 1, 427

N. diseases: 176; N. variants: 21
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C1834569
Disease: Jankovic Rivera syndrome
Jankovic Rivera syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2017 2017
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C1854838
Disease: Progressive neurologic deterioration
Progressive neurologic deterioration 		Mental Disorders 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		Nervous System Diseases 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs147896487
rs147896487 		1.000 0.040 8 18084767 missense variant C/G snv 1.3E-03 1.5E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018