CA8, carbonic anhydrase 8, 767

N. diseases: 87; N. variants: 7
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: rs267606695
rs267606695 		1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 0
dbSNP: rs144074972
rs144074972 		1.000 0.040 8 60251336 intron variant T/C snv 1.7E-04
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs7009482
rs7009482 		8 60282494 upstream gene variant G/A snv 0.39
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7464181
rs7464181 		8 60266015 missense variant T/C;G snv 0.42; 4.0E-06
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1563390893
rs1563390893 		0.851 0.200 8 60281047 splice donor variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1563390893
rs1563390893 		0.851 0.200 8 60281047 splice donor variant C/T snv
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1563390893
rs1563390893 		0.851 0.200 8 60281047 splice donor variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1563390893
rs1563390893 		0.851 0.200 8 60281047 splice donor variant C/T snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1563390893
rs1563390893 		0.851 0.200 8 60281047 splice donor variant C/T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs387906598
rs387906598 		1.000 0.160 8 60222677 missense variant C/T snv 8.0E-06
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs79267946
rs79267946 		1.000 0.160 8 60232322 stop gained T/A;C snv
CUI: C2750509
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs79267946
rs79267946 		1.000 0.160 8 60232322 stop gained T/A;C snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs267606695
rs267606695 		1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267606695
rs267606695 		1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267606695
rs267606695 		1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267606695
rs267606695 		1.000 0.160 8 60266044 missense variant A/C;G snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009