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: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1836868
Disease: Broad ischia
Broad ischia 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1837483
Disease: Posterior rib cupping
Posterior rib cupping 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1856778
Disease: Widely patent coronal suture
Widely patent coronal suture 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1856779
Disease: Widely patent sagittal suture
Widely patent sagittal suture 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1856780
Disease: Posterior vertebral hypoplasia
Posterior vertebral hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4021630
Disease: Broad long bones
Broad long bones 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4022181
Disease: Meningeal calcification
Meningeal calcification 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4022969
Disease: Small proximal tibial epiphyses
Small proximal tibial epiphyses 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4022970
Disease: Small distal femoral epiphysis
Small distal femoral epiphysis 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4025045
Disease: Irregular proximal tibial epiphyses
Irregular proximal tibial epiphyses 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4025050
Disease: Irregular distal femoral epiphysis
Irregular distal femoral epiphysis 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C2749582
Disease: Dumbbell-shaped long bone
Dumbbell-shaped long bone 		phenotype 0.100 None 0 0