Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1833144
Disease: Slender long bone
Slender long bone 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1833762
Disease: Decreased calvarial ossification
Decreased calvarial ossification 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1834345
Disease: Periosteal thickening of long tubular bones
Periosteal thickening of long tubular bones 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli 		disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0