PCP2, Purkinje cell protein 2, 126006

N. diseases: 6; N. variants: 2
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: rs4804217
rs4804217 		1.000 0.040 19 7634461 intron variant C/T snv 0.29
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs4804217
rs4804217 		1.000 0.040 19 7634461 intron variant C/T snv 0.29
CUI: C3714625
Disease: Neuropathic pain
Neuropathic pain 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs587779779
rs587779779 		0.925 0.080 19 7631476 stop gained C/T snv 7.3E-06
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587779779
rs587779779 		0.925 0.080 19 7631476 stop gained C/T snv 7.3E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4804217
rs4804217 		1.000 0.040 19 7634461 intron variant C/T snv 0.29
CUI: C0027796
Disease: Neuralgia
Neuralgia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018