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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 1.000 14 2003 2020
CUI: C4025327
Disease: Congenital pyloric atresia
Congenital pyloric atresia 		disease Congenital Abnormality 6 2 0.130 None 1.000 3 1998 2018
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2018 2018
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		disease Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.010 None 1.000 1 2017 2017
CUI: C2673610
Disease: JEB-I
JEB-I 		disease Disease or Syndrome 4 0.200 None 1.000 1 1996 1996
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2014 2014
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0740927
Disease: Elevated maternal serum alpha-fetoprotein
Elevated maternal serum alpha-fetoprotein 		phenotype Laboratory or Test Result 5 1 0.100 None 0
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters 		phenotype Sign or Symptom 12 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		phenotype Finding 11 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair 		phenotype Finding 57 0.100 None 0
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease Disease or Syndrome 77 1 0.100 None 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		phenotype Finding 13 3 0.100 None 0
CUI: C4021730
Disease: Junctional split
Junctional split 		disease Disease or Syndrome 6 0.100 None 0
CUI: C4023812
Disease: Aplasia of the bladder
Aplasia of the bladder 		phenotype Finding 4 0.100 None 0
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		phenotype Finding 4 3 0.100 None 0
CUI: C4025699
Disease: Abnormality of the stomach
Abnormality of the stomach 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2010 2010
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2010 2010