MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 Biomarker disease BEFREE However, HYD-1 (Lys-Ile-Lys-Met-Val-Ile-Ser-Trp-Lys-Gly), an integrin antagonist, inhibited the KGF-enhanced epithelial adhesion and rete peg elongation. 28732179 2017
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies. 25565750 2014
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 Biomarker disease BEFREE Genes affecting early tooth development (PAX9, MSX1, and AXIN2) are associated with familial tooth agenesis or oligodontia. 17552940 2007
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 GeneticVariation disease UNIPROT The role of MSX1 in human tooth agenesis. 12097313 2002
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 GeneticVariation disease UNIPROT We demonstrate that a mutation in the homeobox gene, MSX1, causes a common developmental anomaly, familial tooth agenesis. 8696335 1996
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 Biomarker disease CTD_human
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial 		0.720 CausalMutation disease CLINVAR
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.710 GeneticVariation disease BEFREE The resemblance between the tooth and nail phenotype in the human family and that of Msx1-knockout mice strongly supports the conclusions that a nonsense mutation in MSX1 causes TNS and that Msx1 is critical for both tooth and nail development. 11369996 2001
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.710 GermlineCausalMutation disease ORPHANET The resemblance between the tooth and nail phenotype in the human family and that of Msx1-knockout mice strongly supports the conclusions that a nonsense mutation in MSX1 causes TNS and that Msx1 is critical for both tooth and nail development. 11369996 2001
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND The resemblance between the tooth and nail phenotype in the human family and that of Msx1-knockout mice strongly supports the conclusions that a nonsense mutation in MSX1 causes TNS and that Msx1 is critical for both tooth and nail development. 11369996 2001
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.710 Biomarker disease CTD_human
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0406735
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic enamel-onycholysis-hypohidrosis syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia. 31469409 2020
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 Biomarker disease BEFREE To evaluate the association of transforming growth factor β3 ( TGFβ3), muscle segment homeobox 1 ( MSX1), Metalloproteinases 3 ( MMP3), and MMP9 genes as candidates for nonsyndromic cleft lip and/or palate in an Indian population. 29738289 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE In conclusion, the results of the present study showed that the variant genotype and variant T allele of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population. 31781599 2019
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia. 30192788 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE In this study, a novel frameshift mutation, the twenty-nucleotide deletion (c.128_147del20, p.Met43Serfsx125), in exon1 of MSX1 was detected in a Chinese family causing autosomal dominant nonsyndromic oligodontia. 30134957 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree. 27485761 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Effects of PAX9 and MSX1 gene variants to hypodontia, tooth size and the type of congenitally missing teeth. 28040065 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE Our results for the first time demonstrates that mutations in MSX1 gene might play an important role in hypodontia cases involving pre-molars and is a risk factor for this ethnic population mainly of Arabs and is first report linking these mutations with tooth agenesis. 27365112 2016
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 GeneticVariation disease BEFREE The objective of the present study was to search for Msh homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin‑A (EDA) and axis inhibition protein 2 (AXIN2) variants in a family with isolated oligodontia and analyse the pathogenesis of mutations that result in oligodontia phenotypes. 25377791 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies. 25565750 2014
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.700 CausalMutation disease CLINVAR A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia. 24914010 2014