MID1, midline 1, 4281

N. diseases: 77; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 Biomarker group BEFREE MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. 11806752 2002
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease BEFREE Mutations in the Mid1 gene are responsible for X-linked Opitz syndrome, characterized by midline defects of the brain, face, heart, and trachea. 12203739 2002
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		0.010 GeneticVariation group BEFREE Mutations in the Mid1 gene are responsible for X-linked Opitz syndrome, characterized by midline defects of the brain, face, heart, and trachea. 12203739 2002
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 AlteredExpression disease BEFREE Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1. 12408967 2002
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.300 GeneticVariation disease BEFREE Using RNA diagnostics we have now identified a duplication of the MID1 first exon in a patient with X-linked Opitz G/BBB syndrome. 12545276 2003
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.300 Biomarker disease BEFREE The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome. 12655643 2003
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease BEFREE The Opitz syndrome gene MID1 is essential for establishing asymmetric gene expression in Hensen's node. 12798296 2003
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease BEFREE By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. 12833403 2003
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease CLINGEN By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. 12833403 2003
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.140 GeneticVariation disease BEFREE By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. 12833403 2003
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		0.040 GeneticVariation disease BEFREE By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. 12833403 2003
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0.010 GeneticVariation disease BEFREE In addition, we can include limb defects in the OS clinical synopsis as we found a MID1-mutated patient showing syndactyly. 12833403 2003
CUI: C0740404
Disease: Limb defects
Limb defects 		0.010 GeneticVariation group BEFREE In addition, we can include limb defects in the OS clinical synopsis as we found a MID1-mutated patient showing syndactyly. 12833403 2003
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease BEFREE Alpha 4 is a regulatory subunit of the major cellular phosphatase, PP2A, that has recently been shown to interact with MID1, the product of the gene mutated in X-linked Opitz GBBB syndrome. 14556245 2003
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease BEFREE In spite of these findings, the biological role exerted by the Opitz syndrome gene product is still unclear and the presence of other potential interacting moieties in the Mid1 structure prompted us to search for additional cellular partners. 15070402 2004
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease CLINGEN Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. 15121778 2004
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease GENOMICS_ENGLAND The genotype and phenotype was compared for these 10 families, clinically diagnosed OS patients found not to have MID1 mutations, and 4 families in whom we have previously reported MID1 mutations. 15558842 2005
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease UNIPROT The genotype and phenotype was compared for these 10 families, clinically diagnosed OS patients found not to have MID1 mutations, and 4 families in whom we have previously reported MID1 mutations. 15558842 2005
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.300 GeneticVariation disease BEFREE Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 15558842 2005
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.060 GeneticVariation group BEFREE Most of the anomalies found in the patients of the present study do not correlate with the MID1 mutation type, with the possible exception of LTE malformations. 15558842 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.020 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005