TSPAN7, tetraspanin 7, 7102

N. diseases: 87; N. variants: 2
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
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.310 GermlineCausalMutation disease ORPHANET A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. 12070254 2002
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.310 GermlineCausalMutation disease ORPHANET A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. 10655063 2000
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.310 Biomarker disease BEFREE MRX58 thus mapped within a 50-cM interval between Xp11.3 and Xq13.1 and overlapped with 23 other MRX families already described. 10449641 1999
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker phenotype HPO
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		0.100 Biomarker phenotype HPO