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: C1853486
Disease: Widow's peak
Widow's peak 		0.100 Biomarker disease HPO
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		0.100 Biomarker phenotype HPO
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration 		0.100 Biomarker phenotype HPO
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		0.100 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease UNIPROT The association of MID1 with OS suggests an important role for this gene in midline development. 9354791 1997
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease BEFREE The association of MID1 with OS suggests an important role for this gene in midline development. 9354791 1997
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 AlteredExpression disease BEFREE Mid1 expression in undifferentiated cells in the central nervous, gastrointestinal and urogenital systems suggests that abnormal cell proliferation may underlie the defect in midline development characteristic of Opitz syndrome. 9467009 1998
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Three cDNAs likely corresponding to three different genes have been found in the minimally deleted region, sequenced and mapped against the contigged cosmids. cDNA clone 10k4 as well as a chimeric clone 13g3, codes for a zinc-finger domain of the RING type and shares homology to some known genes involved in tumorigenesis (RET finger protein, BRCA1) and embryogenesis (MID1). 9599022 1998
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease UNIPROT Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. 9718340 1998
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.300 GeneticVariation disease BEFREE Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. 9718340 1998
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.300 GeneticVariation disease BEFREE Mutations in the B30.2 domain of pyrin/marenostrin are implicated in familial Mediterranean fever, and partial loss of the B30.2 domain of MID1 is responsible for Opitz G/BBB syndrome, characterized by developmental midline defects. 9866204 1998
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease BEFREE MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. 10400986 1999
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.300 GeneticVariation disease BEFREE A member of this protein family, MID1, is the gene responsible for the X-linked form of Opitz G/BBB syndrome, a developmental disorder characterized by defects of the midline structures. 10400986 1999
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 GeneticVariation group BEFREE A member of this protein family, MID1, is the gene responsible for the X-linked form of Opitz G/BBB syndrome, a developmental disorder characterized by defects of the midline structures. 10400986 1999
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease BEFREE The MID1 gene on Xp22 is also a member of the RING-B30 family and is mutated in Opitz syndrome (OS). 10508838 1999
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease BEFREE FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules. 10644436 1999
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease UNIPROT In addition, our detailed mutational analysis of MID1 in a cohort of 15 patients with OS has resulted in the identification of seven novel mutations, two of which disrupt the N-terminus of the protein. 11030761 2000
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease CLINGEN In addition, our detailed mutational analysis of MID1 in a cohort of 15 patients with OS has resulted in the identification of seven novel mutations, two of which disrupt the N-terminus of the protein. 11030761 2000
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease BEFREE In addition, our detailed mutational analysis of MID1 in a cohort of 15 patients with OS has resulted in the identification of seven novel mutations, two of which disrupt the N-terminus of the protein. 11030761 2000
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 GeneticVariation disease BEFREE MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. 11685209 2001
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2 		0.300 GeneticVariation disease BEFREE The gene MID1, the mutation of which causes X-linked Opitz G/BBB syndrome (OS, MIM 300000), encodes a microtubule-associated protein (MAP). 11685209 2001
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		0.900 Biomarker disease 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