TSPAN7, tetraspanin 7, 7102

N. diseases: 87; N. variants: 2
Disease: Mental Retardation, X-Linked 58 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58 		0.700 Biomarker disease CLINGEN The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking. 22445342 2012
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58 		0.700 Biomarker disease CLINGEN A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. 12070254 2002
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58 		0.700 Biomarker disease GENOMICS_ENGLAND A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. 10655063 2000
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58 		0.700 Biomarker disease CLINGEN A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. 10655063 2000
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58 		0.700 GeneticVariation disease UNIPROT A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. 10655063 2000
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58 		0.700 Biomarker disease CTD_human
CUI: C1846174
Disease: Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 58 		0.700 CausalMutation disease CLINVAR