LAMB3, laminin subunit beta 3, 3914

N. diseases: 115; N. variants: 83
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: C0079683
Disease: Herlitz Disease
Herlitz Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 197 0.920 None 1.000 37 67 1994 2018
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 9 14 1997 2016
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 42 2 1994 2019
Amelogenesis imperfecta local hypoplastic form
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 9 2 0.520 None 1.000 2 2014 2015
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 1997 1997
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 1 1997 1997
CUI: C4011403
Disease: AMELOGENESIS IMPERFECTA, TYPE IA
AMELOGENESIS IMPERFECTA, TYPE IA
disease Disease or Syndrome 1 9 0.410 strong 1.000 2 9 2016 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0 1
CUI: C0478085
Disease: Other epidermolysis bullosa
Other epidermolysis bullosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 4 0.200 None 1.000 1 1997 1997
CUI: C2673610
Disease: JEB-I
JEB-I
disease Disease or Syndrome 4 0.200 None 1.000 1 1997 1997
Epidermolysis bullosa inversa dystrophica
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 5 0.200 None 1.000 1 1997 1997
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 61 24 0.150 None 1.000 5 2 2013 2019
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 72 1 0.110 None 1.000 1 2016 2016
CUI: C0853945
Disease: Oral mucosal blisters
Oral mucosal blisters
phenotype Sign or Symptom 12 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
Flexion contracture of proximal interphalangeal joint
phenotype Finding 168 7 0.100 None 0
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 458 92 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Skin and Connective Tissue Diseases Anatomical Abnormality 20 0.100 None 0
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 0.100 None 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
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: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.100 None 0