TJP2, tight junction protein 2, 9414

N. diseases: 37; N. variants: 16
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: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.710 limited 1.000 2 2 2003 2014
Cholestasis, progressive familial intrahepatic 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 13 0.700 None 1.000 2 13 2014 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.510 limited 1.000 2 2011 2014
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis
disease Digestive System Diseases Disease or Syndrome 54 3 0.410 None 1.000 2 2014 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.310 limited 1.000 6 2008 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 2007 2007
CUI: C0034951
Disease: Refractive Errors
Refractive Errors
group Eye Diseases Disease or Syndrome 71 75 0.100 None 1.000 1 1 2013 2013
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.100 None 1.000 1 1 2016 2016
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction
disease Anatomical Abnormality 28 31 0.100 None 1.000 1 1 2013 2013
CUI: C0035579
Disease: Rickets
Rickets
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 72 16 0.100 None 0
CUI: C0038238
Disease: Steatorrhea
Steatorrhea
phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding 37 0.100 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension
disease Digestive System Diseases Disease or Syndrome 167 9 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
Increased serum bile acid concentration
phenotype Finding 5 0.100 None 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.100 None 0
Progressive intrahepatic cholestasis (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 31 10 0.020 None 1.000 2 2018 2019
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease
disease Digestive System Diseases Disease or Syndrome 58 0.020 None 1.000 2 2014 2019
Cholestasis, progressive familial intrahepatic 1
disease Digestive System Diseases Disease or Syndrome 38 19 0.020 None 1.000 2 2018 2019
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 119 24 0.010 None 1.000 1 1995 1995
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma
disease Neoplasms Neoplastic Process 196 10 0.010 None 1.000 1 1999 1999
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2016 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 1999 1999
CUI: C1176475
Disease: Ductal Carcinoma
Ductal Carcinoma
disease Neoplasms Neoplastic Process 273 11 0.010 None 1.000 1 1999 1999