COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 218; N. variants: 266
Source: INFERRED ×
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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 0.100 None 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 4 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: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		phenotype Finding 10 0.100 None 0 1
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		phenotype Finding 2 0.100 None 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		phenotype Finding 2 0.100 None 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype Finding 35 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 19 0.100 None 0
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 41 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 551 0.100 None 0
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype Finding 111 0.100 None 0 1
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 0.100 None 0 1
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype Musculoskeletal Diseases Finding 25 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 0.100 None 0 1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 0.100 None 0 2
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 0.100 None 0
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0 1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 116 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 45 0.100 None 0 1
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 0.100 None 0 1
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 114 0.100 None 0