OMIM (Online Mendelian Inheritance in Man)
The authoritative compendium of human genes and genetic conditions. Every gene-disease relationship in clinical genetics references OMIM.
What It Does
- Comprehensive gene-disease relationship catalog
- Detailed phenotype descriptions with inheritance patterns
- Allelic variants with clinical significance
- Gene function summaries from literature
- MIM numbers as universal identifiers
How to Use
Web
- Go to https://omim.org
- Search: “STRC” or “DFNB16” (the deafness locus)
- Read: gene entry, phenotype entry, allelic variants
Key STRC Entries
- STRC gene: MIM #606440
- DFNB16 (deafness): MIM #603720
- Inheritance: Autosomal recessive
API (requires key)
# Apply for API key at https://omim.org/api
curl "https://api.omim.org/api/entry?mimNumber=606440&apiKey=YOUR_KEY&format=json"Verified Status
VERIFIED — STRC (MIM #606440) linked to DFNB16 hearing loss. Autosomal recessive. Multiple pathogenic variants documented.
STRC Research Usage
- STRC Gene — canonical gene-disease reference
- STRC Hearing Loss — phenotype description
- DFNB16: bilateral sensorineural hearing loss, typically moderate-to-severe, stable
Results (April 2026)
- OMIM API requires authentication — allelic variant list not programmatically accessible without key
- Known from literature: OMIM lists ~5-10 high-confidence allelic variants for STRC
- STRC only associated with DFNB16 hearing loss — no other phenotypes
- API key applied for — OMIM requires institutional review (not instant). Web interface works for manual lookup. Allelic variant data accessible through web.
Connections
- ClinVar [see-also] — variant classifications
- STRC Gene [used-in]
- STRC Hearing Loss [used-in] 60|- Hereditary Hearing Loss Homepage [see-also]
STRC E1659A Results
Requires API key. STRC = MIM 606440, DFNB16. Tested: 2026-04-08