Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
54187 | NANS | N-acetylneuraminate synthase | |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
55768 | NGLY1 | N-glycanase 1 | |
56623 | INPP5E | inositol polyphosphate-5-phosphatase E | |
57462 | MYORG | myogenesis regulating glycosidase (putative) | |
57511 | COG6 | component of oligomeric golgi complex 6 | |
64116 | SLC39A8 | solute carrier family 39 member 8 | |
79143 | MBOAT7 | membrane bound O-acyltransferase domain containing 7 | |
79147 | FKRP | fukutin related protein | |
84197 | POMK | protein O-mannose kinase |
HPO ID | HPO Term |
---|---|
HP:0001181 | Adducted thumb |
HP:0010864 | Intellectual disability, severe |
HP:0001257 | Spasticity |
HP:0000486 | Strabismus |
HP:0001387 | Joint stiffness |
HP:0001249 | Intellectual disability |
HP:0009600 | Thumb contracture |
HP:0000256 | Macrocephaly |
HP:0001258 | Spastic paraplegia |
HP:0001419 | X-linked recessive inheritance |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024