COL5A1, collagen type V alpha 1 chain, 1289

N. diseases: 199; N. variants: 69
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: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0 1
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 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 2
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 118 24 0.100 None 0
CUI: C1858732
Disease: Malar prominence
Malar prominence 		phenotype Finding 10 0.100 None 0
CUI: C1851835
Disease: Narrow maxilla
Narrow maxilla 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 5 4 0.100 None 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.100 None 0
CUI: C1851828
Disease: Cigarette-paper scars
Cigarette-paper scars 		phenotype Finding 5 1 0.100 None 0 1
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness 		phenotype Finding 35 0.100 None 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 109 6 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0 2
CUI: C0241144
Disease: Petechiae of skin
Petechiae of skin 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.100 None 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 3 0.100 None 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		disease Cardiovascular Diseases Disease or Syndrome 13 4 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 17 1 0.100 None 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0 1
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0