Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.030 GeneticVariation BEFREE A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report. 31348255

2019
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.030 GeneticVariation BEFREE The type X collagen gene (COL10A1) is currently known as the disease-causing gene of metaphyseal dysplasia type Schmid (MDS), whereas a mutation of COL10A1 has been reported to cosegregate with a disease phenotype of mild spondylometaphyseal dysplasia (SMD) in a Japanese family. 11214689

2001
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.030 GeneticVariation BEFREE Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family. 9837818

1998