Ataxia (Phenotype)

Synonyms:HP:0001253, HP:0002513, HP:0007050, HP:0007157, Cerebellar ataxia

Id:HP:0001251

Description:Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

Results found

Linked to

	Label	Description
	RPS4Y1 Gene (Entity type)	ENSG00000129824 - ribosomal protein S4 Y-linked 1
	CA2 Gene (Entity type)	ENSG00000104267 - carbonic anhydrase 2
	EIF1AY Gene (Entity type)	ENSG00000198692 - eukaryotic translation initiation factor 1A Y-linked
	ATF3 Gene (Entity type)	ENSG00000162772 - activating transcription factor 3
	ID1 Gene (Entity type)	ENSG00000125968 - inhibitor of DNA binding 1
	ASS1 Gene (Entity type)	ENSG00000130707 - argininosuccinate synthase 1
	DKK1 Gene (Entity type)	ENSG00000107984 - dickkopf Wnt signaling pathway inhibitor 1
	MAGEA6 Gene (Entity type)	ENSG00000197172 - MAGE family member A6
	GJA1 Gene (Entity type)	ENSG00000152661 - gap junction protein alpha 1
	LGALS3BP Gene (Entity type)	ENSG00000108679 - galectin 3 binding protein

RPS4Y1

Gene (Entity type)

ENSG00000129824 - ribosomal protein S4 Y-linked 1

CA2

Gene (Entity type)

ENSG00000104267 - carbonic anhydrase 2

EIF1AY

Gene (Entity type)

ENSG00000198692 - eukaryotic translation initiation factor 1A Y-linked

ATF3

Gene (Entity type)

ENSG00000162772 - activating transcription factor 3

ID1

Gene (Entity type)

ENSG00000125968 - inhibitor of DNA binding 1

ASS1

Gene (Entity type)

ENSG00000130707 - argininosuccinate synthase 1

DKK1

Gene (Entity type)

ENSG00000107984 - dickkopf Wnt signaling pathway inhibitor 1

MAGEA6

Gene (Entity type)

ENSG00000197172 - MAGE family member A6

GJA1

Gene (Entity type)

ENSG00000152661 - gap junction protein alpha 1

LGALS3BP

Gene (Entity type)

ENSG00000108679 - galectin 3 binding protein

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.