Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes. 25549701

2014
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. 24075189

2013
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. 22436304

2012
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. 19919682

2009
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function. 19386590

2009
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. 18948418

2008
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292

2005
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation. 15890672

2005
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription. 12569362

2003
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. 11559848

2001
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity. 11094079

2000
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 7731706

1995
dbSNP: rs147334255
rs147334255
MN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11. 7731705

1995