Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
84342 | COG8 | component of oligomeric golgi complex 8 | |
84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
113189 | CHST14 | carbohydrate sulfotransferase 14 | |
145173 | B3GLCT | beta 3-glucosyltransferase | |
148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 | |
285203 | EOGT | EGF domain specific O-linked N-acetylglucosamine transferase | |
285362 | SUMF1 | sulfatase modifying factor 1 | |
653509 | SFTPA1 | surfactant protein A1 | |
729238 | SFTPA2 | surfactant protein A2 |
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