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| Congenital diaphragmatic hernia v0.92 | PDHA1 | Zornitza Stark Marked gene: PDHA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.92 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.92 | PDHA1 |
Zornitza Stark gene: PDHA1 was added gene: PDHA1 was added to Congenital diaphragmatic hernia. Sources: Literature Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 33461977 Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Review for gene: PDHA1 was set to RED Added comment: Single individual reported as part of a cohort. Note variants in this gene can cause congenital anomalies. Sources: Literature |
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