ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29
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: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 17 1.000 None 1.000 22 16 1995 2017
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 35 0.900 None 1.000 4 2 1996 2002
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.610 None 1.000 2 2008 2019
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 9 0.570 None 1.000 9 1995 2018
CUI: C0079297
Disease: Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Progressiva 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.500 None 1.000 2 1995 1996
CUI: C2608084
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 2 0.500 None 1.000 1 1996 1996
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 42 0.400 None 1.000 2 1 1999 2002
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.360 None 1.000 6 1998 2016
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.330 None 1.000 3 2015 2019
CUI: C0266159
Disease: Pyloric Atresia
Pyloric Atresia 		disease Digestive System Diseases Congenital Abnormality 7 0.320 None 1.000 4 1995 2013
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 197 0.310 None 1.000 2 1995 2003
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 109 0.300 None 1.000 1 2008 2008
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2006 2006
CUI: C0220636
Disease: Malignant neoplasm of salivary gland
Malignant neoplasm of salivary gland 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 91 0.300 None 1.000 1 2006 2006
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 71 16 0.300 None 1.000 1 2008 2008
CUI: C0017639
Disease: Gliosis
Gliosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 102 3 0.300 None 1.000 1 2003 2003
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 29 2 0.300 None 1.000 1 2008 2008
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 7 0.300 None 1.000 1 2008 2008
CUI: C3887640
Disease: Astrocytosis
Astrocytosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 0.300 None 1.000 1 2003 2003
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.300 None 1.000 1 2008 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0.300 None 1.000 1 2008 2008
CUI: C4552766
Disease: Miscarriage
Miscarriage 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.300 None 1.000 1 2008 2008
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 116 3 0.300 None 1.000 1 2006 2006
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.300 moderate 0
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 7 28 0.300 None 0