Details of Disease

General Information of Disease (ID: DISWXRNS)

Disease Name Myopia 25, autosomal dominant
Synonyms myopia (disease) caused by mutation in P4HA2; MYP25; myopia 25, autosomal dominant; MYP25; myopia 25, autosomal dominant; P4HA2 myopia (disease)
Definition Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.
Disease Hierarchy
DISK5S60: Myopia
DISWXRNS: Myopia 25, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0014982
UMLS CUI
C4310655
OMIM ID
617238
MedGen ID
934622

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
P4HA2 DE5EGK0 Limited Autosomal dominant [1]
P4HA2 DE5EGK0 Strong Genetic Variation [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
P4HA2 OTP45YKX Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. Genet Med. 2015 Apr;17(4):300-6. doi: 10.1038/gim.2015.28. Epub 2015 Mar 5.