Source: CLINVAR

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: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C2673410
Disease: Small midface
Small midface 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0426817
Disease: Short ribs
Short ribs 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1849667
Disease: Wide nasal base
Wide nasal base 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4023357
Disease: Maternal teratogenic exposure
Maternal teratogenic exposure 		phenotype 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 1