LAMA3, laminin subunit alpha 3, 3909

N. diseases: 110; N. variants: 86
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: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 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: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0
CUI: C1856953
Disease: Palmar hyperhidrosis
Palmar hyperhidrosis 		phenotype Skin and Connective Tissue Diseases Finding 5 0.100 None 0
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis 		phenotype Finding 11 0.100 None 0
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 27 1 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: C1969236
Disease: Mitten deformity
Mitten deformity 		phenotype Congenital Abnormality 7 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		phenotype Finding 75 10 0.100 None 0
CUI: C2678303
Disease: Hoarse cry
Hoarse cry 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 7 0.100 None 0
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		phenotype Finding 13 3 0.100 None 0
CUI: C4021542
Disease: Recurrent loss of toenails and fingernails
Recurrent loss of toenails and fingernails 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 7 1 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 0.800 strong 1.000 20 2 1992 2018
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 0.610 None 1.000 18 76 1992 2016
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 1.000 13 2011 2020
CUI: C1328355
Disease: Laryngoonychocutaneous syndrome
Laryngoonychocutaneous syndrome 		disease Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 3 0.710 strong 1.000 6 3 1995 2016
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 0.800 strong 1.000 4 3 1995 2016
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.120 None 1.000 3 1 2010 2011
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.020 None 1.000 2 1999 2013
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 1999 2003
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 2018 2019