MID1, midline 1, 4281

N. diseases: 77; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894866
rs104894866
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 15558842 2005
dbSNP: rs28934611
rs28934611
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 15558842 2005
dbSNP: rs104894866
rs104894866
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 11030761 2000
dbSNP: rs28934611
rs28934611
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 11030761 2000
dbSNP: rs104894866
rs104894866
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. 9718340 1998
dbSNP: rs28934611
rs28934611
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. 9718340 1998
dbSNP: rs104894866
rs104894866
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 9354791 1997
dbSNP: rs28934611
rs28934611
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		0.800 GeneticVariation UNIPROT Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 9354791 1997
dbSNP: rs104894866
rs104894866
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28934611
rs28934611
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		G 0.800 CausalMutation CLINVAR
dbSNP: rs7053320
rs7053320
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs104894865
rs104894865
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555894390
rs1555894390
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555895704
rs1555895704
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555895725
rs1555895725
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1556001856
rs1556001856
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1556001968
rs1556001968
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1556003095
rs1556003095
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		TATCA 0.700 CausalMutation CLINVAR
dbSNP: rs1556003200
rs1556003200
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1556004366
rs1556004366
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1556004400
rs1556004400
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1569265497
rs1569265497
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1569268013
rs1569268013
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs1569268029
rs1569268029
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569270035
rs1569270035
Entrez Id: 4281
Gene Symbol: MID1
MID1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked 		T 0.700 CausalMutation CLINVAR