Details of Disease | DrugMAP

General Information of Disease (ID: DISE38HI)

Disease Name	Cornea plana
Synonyms	flat cornea
Disease Hierarchy	DISTUIM1: Corneal disease DISYKSRF: Genetic disease DISE38HI: Cornea plana
Disease Identifiers	MONDO ID MONDO_0000733 UMLS CUI C0344529 MedGen ID 576329 HPO ID HP:0007720 SNOMED CT ID 204145006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC7A3	DTXQR1W	Strong	Genetic Variation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS2	OTTK22NO	Strong	Biomarker	[2]
EPYC	OTTRI5WO	Strong	Genetic Variation	[3]
KERA	OTAP9L2A	Strong	Genetic Variation	[4]
PPP3CB	OTEGNEHW	Strong	Genetic Variation	[5]
PPP3R1	OTGQNFJQ	Strong	Genetic Variation	[5]
------------------------------------------------------------------------------------

References

1	Cataract mutations and lens development.Prog Retin Eye Res. 1999 Mar;18(2):235-67. doi: 10.1016/s1350-9462(98)00018-4.
2	Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6.
3	Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.Ophthalmic Genet. 2007 Jun;28(2):57-67. doi: 10.1080/13816810701351321.
4	Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.Mol Med Rep. 2019 Jun;19(6):4711-4718. doi: 10.3892/mmr.2019.10153. Epub 2019 Apr 11.
5	Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12.Genome Res. 1996 Apr;6(4):249-54. doi: 10.1101/gr.6.4.249.