UniProt ID | Protein Name | Source |
---|---|---|
O15056 | Synaptojanin-2 | |
O43426 | Synaptojanin-1 | |
P32019 | Type II inositol 1,4,5-trisphosphate 5-phosphatase | |
P54840 | Glycogen [starch] synthase, liver | |
Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
HPO ID | HPO Term |
---|---|
HP:0001251 | Ataxia |
HP:0002876 | Episodic tachypnea |
HP:0000508 | Ptosis |
HP:0002084 | Encephalocele |
HP:0000369 | Low-set ears |
HP:0002269 | Abnormality of neuronal migration |
HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
HP:0008872 | Feeding difficulties in infancy |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0000238 | Hydrocephalus |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024