COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: C0042485
Disease: Venous Insufficiency
Venous Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 17 1 0.100 None 0
CUI: C1834345
Disease: Periosteal thickening of long tubular bones
Periosteal thickening of long tubular bones 		phenotype Finding 1 0.100 None 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 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: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 16 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0 1
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C0032326
Disease: Pneumothorax
Pneumothorax 		phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.100 None 0
CUI: C1863351
Disease: Calvarial hyperostosis
Calvarial hyperostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 10 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype Finding 223 19 0.100 None 0 1
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 1
CUI: C1858732
Disease: Malar prominence
Malar prominence 		phenotype Finding 10 0.100 None 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		phenotype Finding 2 0.100 None 0
CUI: C0026884
Disease: Mutism
Mutism 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 47 4 0.100 None 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 16 0.100 None 0
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		phenotype Finding 10 3 0.100 None 0 1
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 111 29 0.100 None 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies 		phenotype Finding 16 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype Finding 228 0.100 None 0
CUI: C0032209
Disease: Platybasia
Platybasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 0.100 None 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 46 0.100 None 0 2
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0 1