HOXD10, homeobox D10, 3236

N. diseases: 83; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 Biomarker disease BEFREE Because HOXD10 has been implicated in the aetiology of congenital vertical talus, variation in its expression may contribute to the lower limb phenotypes occurring with 5' HOXC microdeletions. 26729820 2016
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 GeneticVariation disease BEFREE To determine whether HOXD10 is involved in the etiology of idiopathic clubfoot, HOXD10 coding and 5' and 3' untranslated regions were resequenced in 190 patients (177 with clubfoot, 10 with sporadic vertical talus, and 3 with both clubfoot and vertical talus), and 160 ethnically matched control subjects. 17417092 2007
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 GeneticVariation disease BEFREE This mutation was recently described in a family of Italian descent with CVT and Charcot-Marie-Tooth deformity HOXD10 gene mutations were not identified in any of the other families or sporadic patients with CVT, suggesting that genetic heterogeneity underlies this disorder. 16450407 2006
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 Biomarker disease CTD_human This mutation was recently described in a family of Italian descent with CVT and Charcot-Marie-Tooth deformity HOXD10 gene mutations were not identified in any of the other families or sporadic patients with CVT, suggesting that genetic heterogeneity underlies this disorder. 16450407 2006
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 Biomarker disease GENOMICS_ENGLAND A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 GeneticVariation disease UNIPROT A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 GeneticVariation disease BEFREE This paper presents four generations of a family with radiographically demonstrated congenital vertical talus (CVT) in whom a HOXD10 gene mutation was identified. 15368082 2004
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 Biomarker disease CTD_human A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 CausalMutation disease CLINVAR
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.740 Biomarker disease HPO
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.320 Biomarker disease BEFREE The roles of HOXD10 in the development and progression of head and neck squamous cell carcinoma (HNSCC). 25010866 2014
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.320 AlteredExpression disease BEFREE Knockdown of POU2F1 significantly reduced expression of HOXD10 and D11 and inhibited HNSCC proliferation. 25301728 2014
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.320 Biomarker disease CTD_human Homeobox gene expression profile indicates HOXA5 as a candidate prognostic marker in oral squamous cell carcinoma. 22227861 2012
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.320 GeneticVariation disease BEFREE This mutation was recently described in a family of Italian descent with CVT and Charcot-Marie-Tooth deformity HOXD10 gene mutations were not identified in any of the other families or sporadic patients with CVT, suggesting that genetic heterogeneity underlies this disorder. 16450407 2006
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.320 Biomarker disease CTD_human A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.320 GeneticVariation disease LHGDN A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.310 Biomarker disease BEFREE In conclusion, HOXD10 silencing downregulates the p38/c-Jun N-terminal kinase signaling pathway, which in turn may suppress the migration of RAFLS. 30186380 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.310 Biomarker disease CTD_human Distinctive gene expression signatures in rheumatoid arthritis synovial tissue fibroblast cells: correlates with disease activity. 17568789 2007
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.300 Biomarker phenotype CTD_human Human HOX gene disorders. 24239177 2014
CUI: C0152237
Disease: Talipes Calcaneovalgus
Talipes Calcaneovalgus 		0.300 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C0026640
Disease: Mouth Neoplasms
Mouth Neoplasms 		0.300 Biomarker group CTD_human Homeobox gene expression profile indicates HOXA5 as a candidate prognostic marker in oral squamous cell carcinoma. 22227861 2012
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.300 Biomarker group CTD_human Homeobox gene expression profile indicates HOXA5 as a candidate prognostic marker in oral squamous cell carcinoma. 22227861 2012
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.300 Biomarker phenotype CTD_human HOXD10 M319K mutation in a family with isolated congenital vertical talus. 16450407 2006
CUI: C0152237
Disease: Talipes Calcaneovalgus
Talipes Calcaneovalgus 		0.300 Biomarker disease CTD_human HOXD10 M319K mutation in a family with isolated congenital vertical talus. 16450407 2006