MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
Disease: Hypoplastic enamel-onycholysis-hypohidrosis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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