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: 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: 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: 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
Hyperkeratosis, diffuse palmoplantar (tylosis)
phenotype Finding 1 0.300 strong 1.000 2 2012 2012
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.180 None 1.000 8 2012 2020
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.150 None 1.000 5 1998 2012
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.140 None 1.000 4 1998 2012
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.110 None 1.000 1 2018 2018
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0.909 11 1998 2017
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: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.100 None 1.000 10 1998 2018
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
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: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 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: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0003962
Disease: Ascites
Ascites
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 198 7 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology
disease Anatomical Abnormality 2 0.100 None 0
CUI: C4022395
Disease: Abnormality of the mediastinum
Abnormality of the mediastinum
phenotype Anatomical Abnormality 12 0.100 None 0
CUI: C4021575
Disease: Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar hyperkeratosis
disease Disease or Syndrome 2 1 0.100 None 0