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: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		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: C1850171
Disease: Neonatal short-limb short stature
Neonatal short-limb short stature 		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: 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: C1844704
Disease: Platyspondyly
Platyspondyly 		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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		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: 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: 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: 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: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		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: C0575484
Disease: Long thorax
Long thorax 		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: C0542514
Disease: Blue sclera
Blue sclera 		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: C0456132
Disease: Large fontanelle
Large fontanelle 		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: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		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: C0432363
Disease: Shagreen patch
Shagreen patch 		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: 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: 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: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		group 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