OCLN, occludin, 100506658

N. diseases: 195; N. variants: 8
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: C4552078
Disease: PSEUDO-TORCH SYNDROME 1
PSEUDO-TORCH SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 1 5 0.700 None 1.000 2 5 2010 2013
CUI: C2931662
Disease: Baraitser Brett Piesowicz syndrome
Baraitser Brett Piesowicz syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.320 None 1.000 3 2010 2016
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.620 strong 1.000 4 3 2010 2016
CUI: C1868889
Disease: Irritable bowel syndrome characterized by constipation
Irritable bowel syndrome characterized by constipation 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C1879641
Disease: Primary Cutaneous Mucinous Carcinoma
Primary Cutaneous Mucinous Carcinoma 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2017 2017
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases Disease or Syndrome 12 14 0.010 None 1.000 1 2007 2007
CUI: C0272386
Disease: Hypertrophy of tonsils
Hypertrophy of tonsils 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 15 5 0.010 None 1.000 1 2004 2004
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		disease Digestive System Diseases Disease or Syndrome 17 10 0.010 None 1.000 1 2019 2019
CUI: C2242528
Disease: Non-erosive reflux disease
Non-erosive reflux disease 		disease Disease or Syndrome 17 0.010 None 1.000 1 2012 2012
CUI: C2242710
Disease: Intra-Abdominal Hypertension
Intra-Abdominal Hypertension 		disease Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C0277527
Disease: Epidemic diarrhea
Epidemic diarrhea 		disease Digestive System Diseases; Infections Disease or Syndrome 19 0.010 None 1.000 1 2017 2017
CUI: C0348898
Disease: Irritable bowel syndrome with diarrhea
Irritable bowel syndrome with diarrhea 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2017 2017
CUI: C0026780
Disease: Mumps
Mumps 		disease Infections; Stomatognathic Diseases Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		group Infections Disease or Syndrome 23 1 0.010 None 1.000 1 2018 2018
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		disease Eye Diseases Disease or Syndrome 26 2 0.010 None 1.000 1 2017 2017
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		phenotype Finding 26 1 0.100 None 0
CUI: C0025309
Disease: Meningoencephalitis
Meningoencephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 30 3 0.010 None 1.000 1 2019 2019
CUI: C2718067
Disease: Alcoholic Steatohepatitis
Alcoholic Steatohepatitis 		disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 30 0.010 None 1.000 1 2019 2019
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 34 3 0.010 None 1.000 1 2018 2018
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 37 2 0.300 None 1.000 1 2006 2006
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 39 9 0.100 None 0 1
CUI: C0023223
Disease: Leg Ulcer
Leg Ulcer 		disease Skin and Connective Tissue Diseases Disease or Syndrome 40 0.010 None 1.000 1 2006 2006
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2018 2018
CUI: C0206141
Disease: Idiopathic Hypereosinophilic Syndrome
Idiopathic Hypereosinophilic Syndrome 		disease Hemic and Lymphatic Diseases Disease or Syndrome 43 5 0.010 None 1.000 1 2020 2020
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure 		disease Anatomical Abnormality 46 0.010 None 1.000 1 2019 2019