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: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.410 None 1.000 0 0 2001 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		disease 0.120 None 1.000 0 0 2004 2020
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		disease 0.120 None 1.000 0 0 2012 2018
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype 0.110 None 1.000 0 0 2015 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype 0.110 None 1.000 0 0 1993 1993
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors 		disease 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1851792
Disease: Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the earlobes 		disease 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C1390214
Disease: Internal hemorrhage
Internal hemorrhage 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0