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: C4021575
Disease: Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar hyperkeratosis 		disease Disease or Syndrome 2 1 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype Finding 103 31 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: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 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: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 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: C0030436
Disease: Parakeratosis
Parakeratosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 31 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C4025715
Disease: Abnormal large intestine morphology
Abnormal large intestine morphology 		disease Anatomical Abnormality 2 0.100 None 0
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: C4022395
Disease: Abnormality of the mediastinum
Abnormality of the mediastinum 		phenotype Anatomical Abnormality 12 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: 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: 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
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: 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: 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: 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: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.020 None 1.000 2 1999 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 1 1999 2014
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 1999 1999