Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
2262 | GPC5 | glypican 5 | |
2584 | GALK1 | galactokinase 1 | |
2651 | GCNT2 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | |
4047 | LSS | lanosterol synthase | |
4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
5728 | PTEN | phosphatase and tensin homolog | |
6652 | SORD | sorbitol dehydrogenase | |
9197 | SLC33A1 | solute carrier family 33 member 1 |
HPO ID | HPO Term |
---|---|
HP:0000519 | Developmental cataract |
HP:0000007 | Autosomal recessive inheritance |
HP:0003577 | Congenital onset |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024