Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333989
Disease: Familial meningioma
Familial meningioma 		0.300 Biomarker disease CTD_human
CUI: C0008487
Disease: Chordoma
Chordoma 		0.100 GeneticVariation disease CLINVAR
CUI: C0025286
Disease: Meningioma
Meningioma 		0.100 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.350 Biomarker disease BEFREE MN1 gene and MN1-associated microRNAs provide clinical prognosis of AML patients and may refine their molecular risk classification. 23515710 2013
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 GeneticVariation group BEFREE t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality involving the ETS transcription factor ETV6 and meningioma 1 (MN1) genes. 29273914 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.350 Biomarker disease BEFREE A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia. 15334551 2004
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.350 Biomarker disease BEFREE Although our study suggests a role for MN1 gene and PTEN genes in AML, we could not recommend their use as routine diagnostic and prognostic markers for AML in Egyptian population. 27983532 2017
CUI: C0522631
Disease: Acute myeloid leukemia, minimal differentiation
Acute myeloid leukemia, minimal differentiation 		0.010 GeneticVariation disease BEFREE As far as we know, this is the first report of t(12;22)(p13;q11) translocation involving TEL and MN1 genes in an AML-M0 patient. 17476096 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. 19919682 2009
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. 19919682 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources. 19919682 2009
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.020 Biomarker disease BEFREE Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. 25944382 2016
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.020 Biomarker disease BEFREE Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. 25944382 2016
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.020 Biomarker disease BEFREE Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. 25944382 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 7731706 1995
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 7731706 1995
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. 7731706 1995
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 GeneticVariation disease BEFREE Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. 25810350 2015
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. 25810350 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873 2009
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.020 Biomarker disease BEFREE Deletions spanning the MN1 gene (22q12.1) have recently been proposed as playing a role in craniofacial abnormalities that include cleft palate, as mouse studies have demonstrated that Mn1 haploinsufficiency results in skull abnormalities and secondary cleft palate. 25810350 2015