RHBDF2, rhomboid 5 homolog 2, 79651

N. diseases: 90; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 Biomarker disease BEFREE In this retrospective investigation, we tried to assess whether somatostatin receptor imaging using Tc-HYNIC-TOC (Tc-hydrazinonicotinyl-Tyr3-octreotide) is also useful in patients with recurrent TIO after initial successful surgery. 30672760 2019
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 GeneticVariation disease BEFREE Tylosis with esophageal cancer syndrome (TOC) is a rare autosomal dominant proliferative skin disease caused by missense mutations in the rhomboid 5 homolog 2 (RHBDF2) gene. 30022999 2018
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 GeneticVariation disease BEFREE Our results explain how loss of the amino terminus in iRhom1 and iRhom2 impairs TNF signaling, despite enhancing ADAM17 activity, and may explain how mutations in the amino-terminal region contribute to the cancer predisposition syndrome TOC. 26535007 2015
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 GeneticVariation disease BEFREE Thus, we confirmed RHBDF2 mutations as the underlying cause of the TOC syndrome and our results suggest that the TOC associated mutations might be specific for this particular site in the RHBDF2 gene. 22638770 2012
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 Biomarker disease GENOMICS_ENGLAND RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 22265016 2012
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 Biomarker disease GENOMICS_ENGLAND Thus, we confirmed RHBDF2 mutations as the underlying cause of the TOC syndrome and our results suggest that the TOC associated mutations might be specific for this particular site in the RHBDF2 gene. 22638770 2012
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 GermlineCausalMutation disease ORPHANET RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 22265016 2012
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 GeneticVariation disease UNIPROT RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 22265016 2012
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 Biomarker disease CTD_human
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		0.740 CausalMutation disease CLINVAR
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 Biomarker disease MGD Collectively, our data suggest that RHBDF2 plays a critical role in regulating EGFR signaling and its downstream events, including development of tylosis, by facilitating enhanced secretion of AREG. 28655741 2017
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 GeneticVariation disease BEFREE Mutations in RHBDF2 cause tylosis, a very rare disorder characterized by high life-time risk of ESCC, but no other well-established predisposition genes have been identified. 28165652 2017
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 Biomarker disease BEFREE Collectively, our data suggest that RHBDF2 plays a critical role in regulating EGFR signaling and its downstream events, including development of tylosis, by facilitating enhanced secretion of AREG. 28655741 2017
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 Biomarker disease MGD The curly bare mouse model of tylosis, carrying a GOF mutation in the Rhbdf2 gene (Rhbdf2 <sup>cub</sup> ), presents with epidermal hyperplasia and shows accelerated cutaneous wound-healing phenotype through enhanced secretion of the epidermal growth factor receptor family ligand amphiregulin. 29116018 2017
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 GeneticVariation disease BEFREE A diagnosis of tylosis with oesophageal cancer is made on the basis of a positive family history, characteristic clinical features, including cutaneous and oesophageal lesions, and genetic analysis for mutations in RHBDF2. 26419362 2015
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 GeneticVariation disease BEFREE Dominant iRHOM2 mutations are the cause of the inherited cutaneous and oesophageal cancer-susceptibility syndrome tylosis with oesophageal cancer (TOC), suggesting a role for this protein in epithelial cells. 24643277 2014
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 GeneticVariation disease BEFREE RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 22265016 2012
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		0.300 Biomarker disease GENOMICS_ENGLAND RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 22265016 2012
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		0.300 Biomarker disease GENOMICS_ENGLAND Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. 22638770 2012
CUI: C1835666
Disease: Hyperkeratosis, diffuse palmoplantar (tylosis)
Hyperkeratosis, diffuse palmoplantar (tylosis) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. 22638770 2012
CUI: C1835666
Disease: Hyperkeratosis, diffuse palmoplantar (tylosis)
Hyperkeratosis, diffuse palmoplantar (tylosis) 		0.300 Biomarker phenotype GENOMICS_ENGLAND RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. 22265016 2012
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 GeneticVariation disease BEFREE The tylosis oesophageal cancer (TOC) gene, localised to a small region on chromosome 17q25, has been shown to be associated with oesophageal squamous cell carcinoma. 17046844 2007
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 Biomarker disease MGD Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5. 12573256 2003
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 GeneticVariation disease BEFREE Moreover, a locus responsible for hereditary focal non-epidermolytic palmoplantar keratoderma (tylosis oesophageal cancer; TOC), a condition associated with esophageal cancer, has been mapped to the same band. 12691822 2003
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		0.300 Biomarker disease BEFREE Moreover, a genetic locus for hereditary focal non-epidermolytic palmoplantar keratoderma, a condition associated with cancer of the esophagus (TOC; Tylosis with Oesophageal Cancer), lies in the same region. 11346464 2001