KY, kyphoscoliosis peptidase, 339855

N. diseases: 39; N. variants: 4
Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307110
rs1085307110
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017