ITGA3, integrin subunit alpha 3, 3675

N. diseases: 111; N. variants: 11
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: C3553636
Disease: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 		disease Disease or Syndrome 1 6 0.720 None 1.000 5 6 2012 2018
CUI: C3554367
Disease: EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 2 0.300 strong 1.000 2 2012 2015
CUI: C0853068
Disease: Decreased glomerular filtration rate
Decreased glomerular filtration rate 		phenotype Finding 11 0.100 None 0
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory 		phenotype Nutritional and Metabolic Diseases; Respiratory Tract Diseases Disease or Syndrome 13 1 0.100 None 0
CUI: C0085661
Disease: Onycholysis
Onycholysis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
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 0.330 strong 0.800 5 1994 2018
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		phenotype Finding 17 1 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C0036429
Disease: Sclerosis
Sclerosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2006 2006
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 31 9 0.020 None 1.000 2 2014 2016
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.030 None 1.000 3 2014 2018
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 68 8 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C0085293
Disease: Hepatitis E
Hepatitis E 		disease Digestive System Diseases; Infections Disease or Syndrome 72 2 0.010 None 1.000 1 2019 2019
CUI: C1968949
Disease: Cakut
Cakut 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 8 0.010 None 1.000 1 2014 2014
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases Disease or Syndrome 79 24 0.010 None 1.000 1 2019 2019
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease Nervous System Diseases Disease or Syndrome 81 10 0.010 None 1.000 1 2019 2019
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype Finding 85 7 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0