GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum organization | ||
positive regulation of endoplasmic reticulum tubular network organization | ||
Golgi organization | ||
protein homooligomerization | ||
endoplasmic reticulum to Golgi vesicle-mediated transport |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
membrane | ||
endoplasmic reticulum tubular network membrane | ||
endoplasmic reticulum tubular network |
GO Term | Evidence Code | PMID |
---|---|---|
GTPase activity | ||
protein binding | ||
identical protein binding | ||
GTP binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0070154 | hereditary sensory neuropathy type 1F | |
DOID:0110791 | hereditary spastic paraplegia 3A | |
DOID:2476 | hereditary spastic paraplegia |
HPO ID | HPO Term |
---|---|
HP:0003693 | Distal amyotrophy |
HP:0006937 | Impaired distal tactile sensation |
HP:0007002 | Motor axonal neuropathy |
HP:0007021 | Pain insensitivity |
HP:0007078 | Decreased amplitude of sensory action potentials |
HP:0007328 | Impaired pain sensation |
HP:0007550 | Hypohidrosis or hyperhidrosis |
HP:0009027 | Foot dorsiflexor weakness |
HP:0009763 | Limb pain |
HP:0009771 | Osteolytic defects of the phalanges of the hand |
Disease ID | Disease Name |
---|---|
OMIM:615632 |
|
ORPHA:36386 |
|
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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: February 17, 2025