EPHB1, EPH receptor B1, 2047

N. diseases: 169; N. variants: 17
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.100 CausalMutation phenotype CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017