Annotation Detail
Information
- Associated Genes
- PTRH1
- Associated Variants
-
PTH c.87-50G>T
(
ENST00000529816.1,
ENST00000282091.6 )
PTH c.87-50G>A ( ENST00000529816.1, ENST00000282091.6 )
VDR c.1024+283G>A ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
IL19 c.-149+2211A>G ( ENST00000664374.2, ENST00000659065.2, ENST00000659642.2, ENST00000659997.3, ENST00000656872.2 )
PTH c.87-50G>T ( ENST00000282091.6, ENST00000529816.1 )
PTH c.87-50G>A ( ENST00000282091.6, ENST00000529816.1 )
VDR c.1024+283G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
IL19 c.-149+2211A>G ( ENST00000659065.2, ENST00000659642.2, ENST00000664374.2, ENST00000656872.2, ENST00000659997.3 ) - Associated Disease
- aortic valve stenosis
- Source Database
- DisGeNET
- Description
- Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 polymorphism within the PTH gene, and rs1800871 polymorphism within the IL10 gene may be associated with aortic stenosis with low level of evidence.
- Pubmed
- 24903972
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs