TSPAN6, tetraspanin 6, 7105

N. diseases: 5; N. variants: 0
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.010 GeneticVariation disease BEFREE Deletions of Tetraspanin 6 (Tspan6) gene, a member of the tetraspanin family, have been reported in patients with Epilepsy Female-restricted with Mental Retardation (EFMR). 28207852 2017