RHBDF2, rhomboid 5 homolog 2, 79651

N. diseases: 90; N. variants: 5
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1835666
Disease: Hyperkeratosis, diffuse palmoplantar (tylosis)
Hyperkeratosis, diffuse palmoplantar (tylosis) 		phenotype Finding 1 0.300 strong 1.000 2 2012 2012
CUI: C3489771
Disease: Keratosis Palmaris et Plantaris Familiaris
Keratosis Palmaris et Plantaris Familiaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.200 None 1.000 3 2003 2017
CUI: C4021575
Disease: Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar hyperkeratosis 		disease Disease or Syndrome 2 1 0.100 None 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C1835664
Disease: TYLOSIS WITH ESOPHAGEAL CANCER
TYLOSIS WITH ESOPHAGEAL CANCER 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5 2 0.740 strong 1.000 5 2 2012 2019
CUI: C2931923
Disease: Hyperkeratosis of the palms and soles and esophageal papillomas
Hyperkeratosis of the palms and soles and esophageal papillomas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 5 3 0.010 None 1.000 1 1998 1998
CUI: C1833030
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 1 0.100 None 0.909 11 1998 2017
CUI: C4022395
Disease: Abnormality of the mediastinum
Abnormality of the mediastinum 		phenotype Anatomical Abnormality 12 0.100 None 0
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 13 1 0.300 None 0.923 13 1998 2017
CUI: C0263725
Disease: Hemophilic arthropathy
Hemophilic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 22 0.020 None 1.000 2 2018 2019
CUI: C1274103
Disease: Oncogenic osteomalacia
Oncogenic osteomalacia 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 22 0.010 None 1.000 1 2019 2019
CUI: C0026633
Disease: Mouth Abnormalities
Mouth Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 26 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 31 1 0.010 None 1.000 1 2019 2019
CUI: C1332460
Disease: Barrett's Adenocarcinoma
Barrett's Adenocarcinoma 		disease Neoplastic Process 31 0.010 None 1.000 1 1999 1999
CUI: C4283978
Disease: Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus
Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus 		disease Neoplastic Process 31 0.010 None 1.000 1 1999 1999
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.010 None 1.000 1 2019 2019
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.100 None 0
CUI: C0156149
Disease: Gastrointestinal tract vascular insufficiency
Gastrointestinal tract vascular insufficiency 		disease Digestive System Diseases Disease or Syndrome 68 0.010 None 1.000 1 2018 2018
CUI: C2004435
Disease: Vascular insufficiency of intestine
Vascular insufficiency of intestine 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 68 0.010 None 1.000 1 2018 2018
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma 		disease Neoplasms Neoplastic Process 79 9 0.010 None 1.000 1 2019 2019
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process 144 6 0.300 strong 1.000 2 2012 2012