Atrophy - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Atrophy	go back to main search page
Accession:	DOID:9004462	browse the term
Definition:	Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
Synonyms:	exact_synonym:	Atrophies
	primary_id:	MESH:D001284
	xref:	EFO:1000096

show annotations for term's descendants Sort by:
Rat (352) Mouse (372) Human (7802) Chinchilla (327) Bonobo (340) Dog (352) Squirrel (330) Pig (348) Green Monkey (338) Naked Mole-rat (324) All
Genes (351) Strains (1)

Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor

CTD Direct Evidence: marker/mechanism

PMID:7826670 PMID:20961953

NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568

G

CLN6, transmembrane ER protein

CTD Direct Evidence: marker/mechanism

NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360

G

clusterin

CTD Direct Evidence: marker/mechanism

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

cytochrome P450, family 1, subfamily a, polypeptide 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312

G

enolase 2

severity

associated with Alzheimer Disease

RGD

NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980

G

FERM domain containing kindlin 1

Kindler syndrome, OMIM:173650

RGD

NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555

G

interleukin 1 receptor antagonist

CTD Direct Evidence: therapeutic

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

mitogen activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

ribosomal protein S6 kinase B1

CTD Direct Evidence: marker/mechanism

NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908

G

solute carrier family 1 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

tripartite motif containing 63

CTD Direct Evidence: marker/mechanism

NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322

3-methylglutaconic aciduria type 3

term browser

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Object Name

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C19

ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3

PMID:16055927 PMID:27928778 PMID:28492532

NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
OMIM:258501
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More...

NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469

Alazami Syndrome

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

catenin beta 1

ClinVar Annotator: match by term: Alazami syndrome

PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More...

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

La ribonucleoprotein 7, transcriptional regulator

ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More...

NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865

Allan-Herndon-Dudley syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 16 member 2

ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy
OMIM:300523
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 More...

NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771

ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation

PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 More...

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

Auditory Neuropathy and Optic Atrophy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ferredoxin reductase

ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition

PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More...

NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658

autosomal dominant Wolfram syndrome

term browser

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PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase 13

ClinVar Annotator: match by term: Wolfram-like disorder

PMID:25741868 PMID:28492532 PMID:33879837

NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

Behr syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of

CTD
OMIM
ClinVar

PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More...

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

Bosch-Boonstra-Schaaf optic atrophy syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ARB2 cotranscriptional regulator A

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome

NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162

G

KIAA0825 homolog

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome

NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521

G

nuclear receptor subfamily 2, group F, member 1

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
OMIM:615722
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More...

NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123

G

POU domain class 5, transcription factor 2

ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome

NCBI chr 2:7,907,504...7,908,738

CAPOS Syndrome

term browser

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Object Name

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Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 3

DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More...

NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918

Charcot-Marie-Tooth disease X-linked recessive 5

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphoribosyl pyrophosphate synthetase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More...

NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187

Charlevoix-Saguenay spastic ataxia

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and FYVE domain containing 1

OMIM:270550

NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
OMIM:270550
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More...

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

G

sarcoglycan, gamma

ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia

PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148

G

transforming growth factor, beta receptor 1

ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE

PMID:25326637 PMID:28492532

NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777

childhood-onset dystonia with optic atrophy and basal ganglia abnormalities

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial trans-2-enoyl-CoA reductase

ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More...

NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863

Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 44 member 1

ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

PMID:25741868 PMID:28097321 PMID:31855247

NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909

childhood-onset neurodegeneration with brain atrophy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

upstream binding transcription factor

ClinVar Annotator: match by term: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | ClinVar Annotator: match by term: UBTF-Related Disorder | ClinVar Annotator: match by term: UBTF-related condition

PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 More...

NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969

deafness-dystonia-optic neuronopathy syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ClinVar Annotator: match by term: Deafness dystonia syndrome

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

translocase of inner mitochondrial membrane 8A1

DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)

ClinVar
CTD
OMIM
RGD

PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More...

RGD:13209130, RGD:13209136, RGD:13209134

NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960

dominant optic atrophy plus syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

CTD
ClinVar
OMIM

PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More...

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

early onset progressive encephalopathy with brain atrophy and thin corpus callosum

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

tubulin folding cofactor D

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | ClinVar Annotator: match by term: TBCD-related condition

CTD
ClinVar
OMIM

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27666370 More...

NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122

G

zinc finger protein 750

ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum

NCBI chr10:106,772,162...106,781,186
Ensembl chr10:106,772,669...106,781,200

Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ferredoxin 2

ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy

PMID:24281368 PMID:25741868 PMID:28492532

NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849

Facial Dysmorphism with Multiple Malformations

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GLI family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

G

sonic hedgehog signaling molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

GAPO syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 1

susceptibility

DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome

OMIM
CTD
ClinVar
RGD

PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More...

NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232

Halperin-Birk syndrome

term browser

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Object Name

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

SEC31 homolog A, COPII coat complex component

ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies

PMID:25741868 PMID:30464055

NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273

Hereditary Optic Atrophies

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent serine protein kinase

RGD

NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694

G

guanylate cyclase 2D, retinal

ClinVar Annotator: match by term: Autosomal recessive optic atrophy

PMID:10951519 PMID:11328726 PMID:16199547 PMID:25741868 PMID:28492532

NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

CTD Direct Evidence: marker/mechanism

PMID:8662757 PMID:11695835

NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

CTD Direct Evidence: marker/mechanism

NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061

G

transmembrane protein 126A

ClinVar Annotator: match by term: Optic Atrophy, Recessive

NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628

infantile cerebellar-retinal degeneration

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitase 2

ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More...

NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261

G

RNA polymerase III subunit H

ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration

PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More...

NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778

infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

term browser

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

mediator complex subunit 17

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy

OMIM
CTD
ClinVar

PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 More...

NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592

Leber hereditary optic neuropathy

term browser

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Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

apolipoprotein A4

protein:increased expression:cerebrospinal fluid (human)

RGD

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

epoxide hydrolase 1

onset

DNA:missense mutation:cds:p.Y113H (human)

RGD

NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235

G

interleukin 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

lecithin retinol acyltransferase

CTD Direct Evidence: marker/mechanism

PMID:16250670 PMID:17011878

NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619

G

mitochondrially encoded ATP synthase membrane subunit 6

susceptibility

DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.8668T>C, p.W48R (human)

ClinVar
CTD
RGD

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More...

RGD:5490293, RGD:5508187

NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599

G

mitochondrially encoded ATP synthase membrane subunit 8

ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More...

NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

mitochondrially encoded cytochrome c oxidase II

ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689

G

mitochondrially encoded cytochrome c oxidase III

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7573056 More...

NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382

G

mitochondrially encoded cytochrome b

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 More...

NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T (human)

ClinVar
CTD
RGD

PMID:1417830 PMID:1436530 PMID:1442494 PMID:1539598 PMID:1550128 More...

RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187

NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

DNA:transversion:CDS:c.4852T>A, p.L128Q (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1900003 More...

NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

DNA: mutation
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)

ClinVar
CTD
RGD

PMID:1346348 PMID:1352537 PMID:1417830 PMID:1436530 PMID:1469456 More...

RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581059, RGD:1581058

NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)

ClinVar
CTD
RGD

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

RGD:5686339, RGD:5686341

NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:exon:p.Y159H(human)
DNA:mutation:: m.12338 T>C

ClinVar
CTD
RGD

PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 More...

RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172

NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

DNA:SNP, haplotypes: :m.14484T>C (human)
OMIM:535000
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia
CTD Direct Evidence: marker/mechanism
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutations, haplotypes:cds:multiple
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)

MouseDO
ClinVar
CTD
RGD

PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 More...

RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123

NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Leber optic atrophy

NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420

G

presenilin associated, rhomboid-like

no_association

DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)

RGD

PMID:20407791 PMID:20711738

RGD:12902617, RGD:12902618

NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: Leber optic atrophy
CTD Direct Evidence: marker/mechanism

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

G

retinol dehydrogenase 12

RGD

NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388

G

RP1, axonemal microtubule associated

ClinVar Annotator: match by term: Leber optic atrophy

NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363

G

retinoid isomerohydrolase RPE65

CTD Direct Evidence: marker/mechanism

PMID:16828753 PMID:17011878

NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403

G

RPGR interacting protein 1

RGD

NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605

G

superoxide dismutase 2

treatment

RGD

PMID:15293270 PMID:12601034

RGD:8158101, RGD:8158104

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

tumor protein p53

onset

DNA:polymorphism:cds:p.R72P(human)

RGD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

Leber hereditary optic neuropathy and dystonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies

PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868

NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798

Leber Hereditary Optic Neuropathy, Autosomal Recessive 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NADH:ubiquinone oxidoreductase core subunit S2

ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2

PMID:25741868 PMID:28031252

NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420

Leber Optic Atrophy, Susceptibility To

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to

PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More...

NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to

PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 More...

NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537

G

prickle planar cell polarity protein 3

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

Leber plus disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NADH:ubiquinone oxidoreductase complex assembly factor 5

ClinVar Annotator: match by term: Leber plus disease

NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477

G

prickle planar cell polarity protein 3

NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218

lethal congenital contracture syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3

OMIM
CTD
ClinVar

PMID:17701898 PMID:25741868

NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988

Miles-Carpenter syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger C4H2-type containing

ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More...

NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488

mitochondrial DNA depletion syndrome 16B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mast cell immunoglobulin-like receptor 1

ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

PMID:25741868 PMID:28492532 PMID:31778857

NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282

G

DNA polymerase gamma 2, accessory subunit

ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

PMID:25741868 PMID:28492532 PMID:31778857

NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008

Miyoshi muscular dystrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anoctamin 5

ClinVar Annotator: match by term: Miyoshi myopathy

PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 More...

NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555

G

dysferlin

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive

PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 More...

NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709

Miyoshi muscular dystrophy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dysferlin

ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1

PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 More...

NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709

Miyoshi muscular dystrophy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anoctamin 5

ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 | ClinVar Annotator: match by term: Miyoshi myopathy 3
CTD Direct Evidence: marker/mechanism
DNA:duplication, missense mutation:exon:c.191dupA, p.R758C (c.2272C>T) (human)

OMIM
ClinVar
CTD
RGD

PMID:9673985 PMID:17132147 PMID:18414213 PMID:20096397 PMID:20692837 More...

NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555

G

NADH:ubiquinone oxidoreductase complex assembly factor 6

ClinVar Annotator: match by term: Miyoshi myopathy 3

PMID:25326637 PMID:25741868 PMID:26741492 PMID:28492532 PMID:30642748 More...

NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951

muscular atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

CTD Direct Evidence: therapeutic

NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921

G

adenosine monophosphate deaminase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938

G

apoptotic peptidase activating factor 1

mRNA:decreased expression:skeletal muscle tissue

RGD

NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540

G

BUB1 mitotic checkpoint serine/threonine kinase B

RGD

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

G

calcium voltage-gated channel subunit alpha1 S

ClinVar Annotator: match by term: Muscular atrophy

PMID:25741868 PMID:31227654

NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318

G

calpastatin

protein:increased expression:gastrocnemius (rat)

RGD

NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659

G

cyclin G1

associated with microgravity; mRNA:increased expression:gastrocnemius (rat)

RGD

NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641

G

cofilin 1

protein:decreased phosphorylation:gastrocnemius (rat)

RGD

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

component of inhibitor of nuclear factor kappa B kinase complex

treatment

RGD

NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065

G

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

CTD Direct Evidence: therapeutic

NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897

G

collagen type I alpha 2 chain

RGD

NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867

G

collagen type VI alpha 3 chain

ClinVar Annotator: match by term: Muscular atrophy

PMID:25741868 PMID:28492532

NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471

G

corticotropin releasing hormone receptor 2

RGD

NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904

G

catenin beta 1

CTD Direct Evidence: therapeutic

NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111

G

cathepsin L

mRNA:increased expression:soleus (rat)

RGD

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

dystroglycan 1

protein:decreased expression:gastrocnemius

RGD

NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325

G

dystrophin

ClinVar Annotator: match by term: Muscular atrophy

PMID:25741868 PMID:12107060

NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207

G

endonuclease G

RGD

NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932

G

fatty acid binding protein 4

associated with microgravity; mRNA:increased expression:gastrocnemius (rat)

RGD

NCBI chr 2:91,580,879...91,585,567
Ensembl chr 2:91,580,885...91,585,578

G

F-box protein 32

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21139329 PMID:11679633

NCBI chr 7:89,731,428...89,764,997
Ensembl chr 7:89,730,232...89,765,436

G

follistatin

CTD Direct Evidence: therapeutic

NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571

G

growth hormone 1

CTD Direct Evidence: therapeutic

NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078

G

growth hormone receptor

mRNA:increased expression:soleus
associated with microgravity; mRNA:increased expression:gastrocnemius (rat)

RGD

PMID:12865352 PMID:14638460

RGD:2307376, RGD:151361116

NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735

G

glycogen synthase kinase 3 beta

CTD Direct Evidence: therapeutic

NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646

G

heat shock transcription factor 1

treatment

RGD

NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011

G

heat shock protein 90 alpha family class B member 1

mRNA:decreased expression:soleus muscle (rat)

RGD

NCBI chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488

G

insulin-like growth factor 1

CTD Direct Evidence: therapeutic

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

inhibitor of nuclear factor kappa B kinase subunit beta

treatment

RGD

NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250

G

potassium voltage-gated channel subfamily H member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008

G

kinesin family member 16B

ClinVar Annotator: match by term: Muscular atrophy

NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019

G

KRAS proto-oncogene, GTPase

associated with microgravity; mRNA:increased expression:gastrocnemius (rat)

RGD

NCBI chr 4:178,185,418...178,218,484

G

myostatin

associated with Addison's Disease
mRNA, protein:altered expression:skeletal muscle

RGD

PMID:15738643 PMID:15758361

RGD:2303596, RGD:2303594

NCBI chr 9:48,452,533...48,458,933
Ensembl chr 9:48,452,533...48,458,933

G

myotubularin related protein 4

protein:decreased expression:gastrocnemius

RGD

NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342

G

mechanistic target of rapamycin kinase

treatment

RGD

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

NEDD4 E3 ubiquitin protein ligase

protein:increased expression:gastrocnemius

RGD

NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951

G

nuclear receptor subfamily 3, group C, member 1

protein:altered expression:nucleus

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

protein kinase cAMP-dependent type I regulatory subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041

G

glycogen phosphorylase, muscle associated

ClinVar Annotator: match by term: Muscular atrophy

PMID:1067063 PMID:2391551 PMID:3476861 PMID:8316268 PMID:8401511 More...

NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368

G

RELB proto-oncogene, NF-kB subunit

protein:decreased localization:soleus, nucleus

RGD

NCBI chr 1:79,257,738...79,285,490
Ensembl chr 1:79,257,725...79,285,507

G

ribosomal protein S6 kinase B1

protein:decreased expression, decreased phosphorylation:soleus

RGD

NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908

G

serpin family E member 1

mRNA:increased expression:muscle

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

sarcoglycan, alpha

protein:decreased expression:gastrocnemius

RGD

NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813

G

superoxide dismutase 1

CTD Direct Evidence: marker/mechanism

PMID:24163136 PMID:29374221

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

transferrin receptor

mRNA:decreased expression:gastrocnemius

RGD

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

G

TGFB-induced factor homeobox 1

associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat)

RGD

NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802

G

translocase of inner mitochondrial membrane 23

RGD

NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

translocase of outer mitochondrial membrane 20

RGD

NCBI chr19:54,925,197...54,935,188
Ensembl chr19:54,923,402...54,935,198

G

tripartite motif containing 63

mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:21139329 PMID:11679633

NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322

G

alpha tocopherol transfer protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073

G

uncoupling protein 2

mRNA:altered expression:quadriceps muscle (mouse)

RGD

NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611

G

uncoupling protein 3

mRNA:altered expression:quadriceps muscle (mouse)

RGD

NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762

G

WW domain containing transcription regulator 1

CTD Direct Evidence: therapeutic

NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968

Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy

PMID:8967754 PMID:10746566 PMID:10976639 PMID:16199547 PMID:20484225 More...

NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V0 subunit a1

ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy

PMID:15742102 PMID:33833240 PMID:34909687

NCBI chr10:85,935,802...85,989,901
Ensembl chr10:85,935,854...85,989,895

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

exocyst complex component 8

ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy

PMID:25741868 PMID:28492532 PMID:32103185

NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491

NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

exocyst complex component 7

ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy

PMID:25741868 PMID:32103185

NCBI chr10:101,521,630...101,540,425
Ensembl chr10:101,520,927...101,540,561

NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TATA-box binding protein associated factor 8

ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy

PMID:25741868 PMID:29648665 PMID:35759269

NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717

Nuclear Type Mitochondrial Complex I Deficiency 38

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive

PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More...

NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408

optic atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Optic atrophy

PMID:26539208 PMID:29181157 PMID:32219868

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

CYFIP related Rac1 interactor A

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668

G

DEAD-box helicase 1

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365

G

dynamin 1-like

CTD Direct Evidence: marker/mechanism

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

G

mitochondrial trans-2-enoyl-CoA reductase

ClinVar Annotator: match by term: Optic atrophy

PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More...

NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863

G

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Optic atrophy

NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

G

NADH:ubiquinone oxidoreductase core subunit S3

CTD Direct Evidence: marker/mechanism

NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824

G

nicotinamide nucleotide adenylyltransferase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180

G

ornithine aminotransferase

ClinVar Annotator: match by term: Optic atrophy

NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682

G

OPA1, mitochondrial dynamin like GTPase

DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human)
ClinVar Annotator: match by term: Optic atrophy
OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708

ClinVar
MouseDO
RGD

PMID:11440988 PMID:12036970 PMID:19112530 PMID:19319978 PMID:19969356 More...

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

ribosomal protein L24

OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708

NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370

G

reticulon 4 interacting protein 1

ClinVar Annotator: match by term: Optic atrophy

NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338

G

stem-loop histone mRNA binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906

G

solute carrier family 25, member 46

CTD Direct Evidence: marker/mechanism

NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314

G

synaptosome associated protein 25

ClinVar Annotator: match by term: Optic atrophy

PMID:25741868 PMID:33299146

NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760

G

tubulin folding cofactor D

CTD Direct Evidence: marker/mechanism

NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122

G

wolframin ER transmembrane glycoprotein

DNA:missense mutation:cds:p.R456H (rs1801206) (human)

RGD

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

optic atrophy 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OPA1, mitochondrial dynamin like GTPase

DNA:nonsense mutation:exon:p.Q285X (mouse)
ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile
CTD Direct Evidence: marker/mechanism
DNA:splice-site mutation:intron:c.1065+5G>A (mouse)
DNA:mutations:multiple
DNA:duplication:exons, introns:g.194832822_194840568dup (human)
DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human)
DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple
DNA:SNPs, deletions:exons:multiple

ClinVar
OMIM
CTD
RGD

PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 More...

RGD:7800686, RGD:7800716, RGD:7800715, RGD:7800709, RGD:7800708, RGD:7800706, RGD:7800704, RGD:7800699

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: Optic Atrophy, Dominant

NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469

G

wolframin ER transmembrane glycoprotein

DNA:missense mutations, deletion:multiple

RGD

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

optic atrophy 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

reticulon 4 interacting protein 1

ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:25741916 PMID:26593267 PMID:28492532 PMID:28638143 More...

NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338

optic atrophy 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

YME1-like 1 ATPase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy 11

OMIM
CTD
ClinVar

PMID:25741868 PMID:27495975 PMID:28492532

NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335

optic atrophy 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Optic atrophy 12

PMID:25741868 PMID:25741914 PMID:26467025 PMID:26539208 PMID:26633542 More...

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

tubulin, beta 6 class V

ClinVar Annotator: match by term: Optic atrophy 12

NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418

Optic Atrophy 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

single stranded DNA binding protein 1

ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities

PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 PMID:36909829

NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135

Optic Atrophy 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial elongation factor 1

ClinVar Annotator: match by term: Optic atrophy 14

NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220

Optic Atrophy 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

malonyl-CoA-acyl carrier protein transacylase

ClinVar Annotator: match by term: Optic atrophy 15

NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542

Optic Atrophy 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial trans-2-enoyl-CoA reductase

ClinVar Annotator: match by term: Optic atrophy 16

PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 More...

NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863

optic atrophy 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 45

ClinVar Annotator: match by term: Optic atrophy 2

NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202

optic atrophy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

outer mitochondrial membrane lipid metabolism regulator OPA3

ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More...

NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469

optic atrophy 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynamin 1-like

ClinVar Annotator: match by term: Optic atrophy 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15635063 PMID:16199547 PMID:20696759 PMID:25326637 PMID:25741868 More...

NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482

G

tyrosyl-tRNA synthetase 2

ClinVar Annotator: match by term: Optic atrophy 5

NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125

optic atrophy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane protein 126A

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7

OMIM
CTD
ClinVar

PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 More...

NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628

optic atrophy 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitase 2

ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25351951 PMID:25741868 PMID:28492532 PMID:30689204 PMID:32449285 More...

NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261

G

N-acetyl-alpha-glucosaminidase

ClinVar Annotator: match by term: Optic atrophy 9

PMID:20852935 PMID:23667853 PMID:25520920 PMID:25741868 PMID:26907177 More...

NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972

G

RNA polymerase III subunit H

ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9

PMID:25351951 PMID:25741868 PMID:28492532 PMID:32449285 PMID:34056600

NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778

OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ferredoxin reductase

ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

PMID:25741868 PMID:30250212

NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658

PEHO syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled coil domain containing 88A

ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome

PMID:25741868 PMID:26917597 PMID:28492532

NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368

G

insulin-like growth factor 1

protein:decreased expression:cerebrospinal fluid:

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

kinesin family member 1A

ClinVar Annotator: match by term: PEHO syndrome

PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More...

NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480

G

zinc finger, HIT-type containing 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome

OMIM
CTD
ClinVar

PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081

NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475
Ensembl chr10:69,748,789...69,790,475

Primrose Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger and BTB domain containing 20

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes | ClinVar Annotator: match by term: Primrose syndrome

CTD
ClinVar
OMIM

PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 More...

NCBI chr11:57,052,129...57,791,214
Ensembl chr11:57,072,880...57,510,210

Progressive Encephalopathy with Amyotrophy and Optic Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy

NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469

G

tubulin folding cofactor E

ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:27666369 PMID:28492532 PMID:34134906 PMID:34356170

NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089

Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALS2 C-terminal like

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419

G

ariadne RBR E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852

G

cathelicidin antimicrobial peptide

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543

G

coiled-coil domain containing 12

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417

G

coiled-coil domain containing 51

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472

G

C-C motif chemokine receptor 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,556,286...123,561,841

G

C-C motif chemokine receptor 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 3

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

C-C motif chemokine receptor 5

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

C-C motif chemokine receptor 9

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969

G

C-C motif chemokine receptor like 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664

G

cell division cycle 25A

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701

G

cadherin, EGF LAG seven-pass G-type receptor 3

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354

G

collagen type VII alpha 1 chain

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252

G

cripto, EGF-CFC family member

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308

G

chondroitin sulfate proteoglycan 5

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758

G

C-X-C motif chemokine receptor 6

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526

G

DALR anticodon binding domain containing 3

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568

G

DExH-box helicase 30

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381

G

elongator acetyltransferase complex subunit 6

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067

G

F-box and WD repeat domain containing 12

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813

G

FYVE and coiled-coil domain autophagy adaptor 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021

G

inosine monophosphate dehydrogenase 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359

G

inositol hexakisphosphate kinase 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166

G

kinesin family member 9

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252

G

kelch-like family member 18

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,400,679...110,459,442
Ensembl chr 8:110,400,681...110,459,323

G

leucyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395

G

LIM domain containing 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714

G

leucine rich repeat containing 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,936,119...110,969,189
Ensembl chr 8:110,938,165...110,969,185

G

lactotransferrin

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795

G

leucine zipper transcription factor-like 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192

G

microtubule-associated protein 4

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362

G

microRNA 191

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,264,098...109,264,188

G

myosin light chain 3

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816

G

neurobeachin-like 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707

G

NCK interacting protein with SH3 domain

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246

G

NADH:ubiquinone oxidoreductase complex assembly factor 3

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194

G

NME/NM23 nucleoside diphosphate kinase 6

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301

G

prolyl 4-hydroxylase, transmembrane

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634

G

plexin B1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,743,470...109,769,153
Ensembl chr 8:109,744,697...109,769,027

G

protein kinase cAMP-dependent type II regulatory subunit alpha

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628

G

serine protease 50

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,842,525...110,848,855
Ensembl chr 8:110,842,671...110,848,802

G

parathyroid hormone 1 receptor

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729

G

protein tyrosine phosphatase, non-receptor type 23

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,360,804...110,383,271
Ensembl chr 8:110,360,804...110,383,271

G

glutaminyl-tRNA synthetase 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24656866 PMID:25432320 More...

NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739

G

glutamine-rich 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359

G

receptor (chemosensory) transporter protein 3

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699

G

SAC1 like phosphatidylinositide phosphatase

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413

G

SREBF chaperone

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666

G

SET domain containing 2, histone lysine methyltransferase

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489

G

shisa family member 5

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408

G

solute carrier family 25 member 20

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512

G

solute carrier family 26 member 6

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778

G

solute carrier family 6 member 20a

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720

G

serine peptidase inhibitor, Kazal type 8

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994

G

translation machinery associated 7 homolog

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,726,213...109,730,902
Ensembl chr 8:109,726,196...109,735,474

G

transmembrane protein 89

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271

G

transmembrane inner ear

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803

G

three prime repair exonuclease 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796

G

urocortin 2

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172

G

ubiquinol-cytochrome c reductase core protein 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480

G

WD repeat domain 6

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499

G

X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy

NCBI chr 8:123,479,454...123,516,168
Ensembl chr 8:123,479,590...123,487,226

Sarcopenia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apoptosis inducing factor, mitochondria associated 1

severity

RNA:increased expression:plantaris muscle:

RGD

NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256

G

adenylate kinase 1

protein:increased expression:gastrocnemius muscle (rat)

RGD

NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041

G

androgen receptor

treatment

RGD

PMID:24177288 PMID:17049844

RGD:10043306, RGD:10043311

NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925

G

ATP synthase F1 subunit alpha

protein:increased localization:gastrocnemius (rat)

RGD

NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794

G

BCL2 associated X, apoptosis regulator

mRNA:decreased expression:plantaris

RGD

NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368

G

BCL2, apoptosis regulator

mRNA:decreased expression:plantaris

RGD

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

G

caveolin 1

severity

DNA:SNP:intron:14713G>A (rs3807987) (human)

RGD

NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705

G

cyclin-dependent kinase inhibitor 1A

treatment

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

CCAAT/enhancer binding protein alpha

protein:increased expression:thigh muscle (mouse)

RGD

NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412

G

CCAAT/enhancer binding protein beta

mRNA:increased expression:vastus lateralis muscle (human)

RGD

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

eukaryotic translation initiation factor 2B subunit epsilon

RGD

NCBI chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419

G

eukaryotic translation initiation factor 2 subunit alpha

RGD

NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225

G

fission, mitochondrial 1

protein:increased expression:extensor digitorum longus (rat)

RGD

NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377

G

forkhead box O4

RGD

NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115

G

homeostatic iron regulator

DNA:missense mutation: :p.C282Y (rs1800562) (human)

RGD

NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502

G

insulin-like growth factor 1

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 6

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

mitofusin 2

protein:increased expression:extensor digitorum longus (rat)

RGD

NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342

G

NFKB inhibitor alpha

protein:increased expression:soleus

RGD

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

OPA1, mitochondrial dynamin like GTPase

protein:increased expression:extensor digitorum longus (rat)

RGD

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

PPARG coactivator 1 alpha

mRNA:altered expression:gastrocnemius muscle (rat)

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

Suv3 like RNA helicase

CTD Direct Evidence: marker/mechanism

NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054

Senior-Loken syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

centrosomal protein 290

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:25741868 PMID:28492532

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

IQ motif containing B1

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More...

NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093

G

nephrocystin 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More...

NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234

G

nephrocystin 4

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

PMID:25741868 PMID:28492532

NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706

G

RNA 5'-phosphate and 3'-OH ligase 1

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia

NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111

G

transmembrane protein 218

OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615

NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Renal-retinal syndrome

PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More...

NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903

G

WD repeat domain 19

DNA:missense mutations, frameshift mutations, snp:multiple (human)
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome

PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More...

NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288

Senior-Loken Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nephrocystin 1

ClinVar Annotator: match by term: Senior-Loken syndrome 1

PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More...

NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234

Senior-Loken Syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nephrocystin 4

ClinVar Annotator: match by term: Senior-Loken syndrome 4
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More...

NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706

Senior-Loken Syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

IQ motif containing B1

ClinVar Annotator: match by term: Senior-Loken syndrome 5
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:exon:multiple

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More...

NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093

Senior-Loken Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centrosomal protein 290

ClinVar Annotator: match by term: Senior-Loken syndrome 6
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More...

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

RNA 5'-phosphate and 3'-OH ligase 1

ClinVar Annotator: match by term: Senior-Loken syndrome 6

PMID:20683928 PMID:25741868 PMID:28492532

NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600

Senior-Loken Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylosuccinate synthase 2

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 More...

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

catsper channel auxiliary subunit epsilon

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979

G

centrosomal protein 170

ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:20835237 PMID:22190896 PMID:28492532

NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226

G

cytochrome c oxidase assembly factor COX20

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:90,065,900...90,075,386

G

desumoylating isopeptidase 2

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416

G

heterogeneous nuclear ribonucleoprotein U

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588

G

phospholipase D family, member 5

ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:20835237 PMID:28492532

NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More...

NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111

G

sperm microtubule inner protein 3

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817

G

zinc finger and BTB domain containing 18

ClinVar Annotator: match by term: Senior-Loken syndrome 7

NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862

Senior-Loken Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 19

ClinVar Annotator: match by term: Senior-Loken syndrome 8

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More...

NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288

Senior-Loken Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TRAF3 interacting protein 1

ClinVar Annotator: match by term: Senior-Loken syndrome 9

PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549

NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977

spastic ataxia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

onset

DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:22022284

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

AT hook, DNA binding motif, containing 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145

G

alpha-methylacyl-CoA racemase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255

G

adenosine monophosphate deaminase 2

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271

G

apolipoprotein B

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

arylsulfatase A

ClinVar Annotator: match by term: Spastic ataxia

PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 More...

NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783

G

ATPase Na+/K+ transporting subunit alpha 2

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Spastic ataxia

PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More...

NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636

G

similar to human chromosome 19 open reading frame 12

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025

NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225

G

calcium voltage-gated channel subunit alpha1 G

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752

G

calcium voltage-gated channel auxiliary subunit beta 4

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944

G

coiled-coil domain containing 88C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555

G

centrosomal protein 290

ClinVar Annotator: match by term: Spastic ataxia

PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 More...

NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392

G

CLN6, transmembrane ER protein

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360

G

coenzyme Q4

ClinVar Annotator: match by term: Spastic ataxia

PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 More...

NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799

G

cytochrome P450 family 7 subfamily B member 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698

G

DAB adaptor protein 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552

G

aspartyl-tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934

G

DNA methyltransferase 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659

G

ELOVL fatty acid elongase 4

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697

G

ERCC excision repair 4, endonuclease catalytic subunit

ClinVar Annotator: match by term: Spastic ataxia

PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532

NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369

G

exosome component 8

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928

G

fatty acid 2-hydroxylase

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153

G

FAT atypical cadherin 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216

G

filamin C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844

G

galactosylceramidase

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 More...

NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830

G

gap junction protein, gamma 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 More...

NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467

G

galactosidase, beta 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 More...

NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127

G

histidyl-tRNA synthetase 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196

NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740

G

4-hydroxyphenylpyruvate dioxygenase-like

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:32707086 PMID:33970200

NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233

G

inositol 1,4,5-trisphosphate receptor, type 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025

NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491

G

potassium calcium-activated channel subfamily M alpha 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198

G

kinesin family member 1A

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480

G

kinesin family member 1C

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545

G

lysosomal trafficking regulator

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480

G

MKS transition zone complex subunit 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655

G

mitochondrial poly(A) polymerase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538

G

N-acetyl-alpha-glucosaminidase

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Spastic ataxia

PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532

NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965

G

phosphoinositide-3-kinase, regulatory subunit 5

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374

G

phospholipase A2 group VI

ClinVar Annotator: match by term: Spastic ataxia

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532

NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114

G

patatin-like phospholipase domain containing 6

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:32579787

NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734

G

palmitoyl-protein thioesterase 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More...

NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048

G

pumilio RNA-binding family member 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214

G

sodium voltage-gated channel alpha subunit 8

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292

G

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:34445196

NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740

G

senataxin

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278

NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803

G

solute carrier family 1 member 3

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605

G

solute carrier family 25, member 46

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196

NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314

G

spastin

ClinVar Annotator: match by term: Spastic ataxia

PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More...

NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954

G

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911

G

spectrin, alpha, non-erythrocytic 1

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046

G

syntaxin binding protein 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More...

NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369

G

spectrin repeat containing nuclear envelope protein 1

ClinVar Annotator: match by term: Spastic ataxia

PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 More...

NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322

G

spectrin repeat containing nuclear envelope protein 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064

G

transmembrane protein 67

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334

G

tau tubulin kinase 2

ClinVar Annotator: match by term: Spastic ataxia

PMID:25741868 PMID:28492532

NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223

G

tubulin, beta 3 class III

ClinVar Annotator: match by term: Spastic ataxia

NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Spastic ataxia

PMID:12955714 PMID:15605410 PMID:17603484 PMID:18060660 PMID:20301750 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

spastic ataxia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TAP binding protein-like

ClinVar Annotator: match by term: Spastic ataxia 1

PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More...

NCBI chr 4:158,021,454...158,028,905

G

vesicle-associated membrane protein 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 1

OMIM
CTD
ClinVar

PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More...

NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349

Spastic Ataxia 10, Autosomal Recessive

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coenzyme Q4

ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive

PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 More...

NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799

spastic ataxia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 17 open reading frame 107

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196

G

calmodulin binding transcription activator 2

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558

G

cholinergic receptor nicotinic epsilon subunit

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530

G

enolase 3

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,370,531...55,375,921
Ensembl chr10:55,366,975...55,375,921

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

inhibitor of CDK, cyclin A1 interacting protein 1

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,401,989...55,414,364
Ensembl chr10:55,401,982...55,414,114

G

kinesin family member 1C

ClinVar Annotator: match by term: Spastic ataxia 2
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 More...

NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545

G

profilin 1

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631

G

ring finger protein 167

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927

G

solute carrier family 25 member 11

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410

G

sperm associated antigen 7

ClinVar Annotator: match by term: Spastic ataxia 2

NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404

spastic ataxia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methionyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Spastic ataxia 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:22448145 PMID:25741868 PMID:25741913 PMID:28492532

NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Autosomal recessive spastic ataxia

PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868

NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335

spastic ataxia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrial poly(A) polymerase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4

OMIM
CTD
ClinVar

PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 More...

NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538

spastic ataxia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Spastic ataxia 5
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:22022284 PMID:25401298 PMID:25741868 PMID:25741914 PMID:26454370 More...

NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110

G

tubulin, beta 6 class V

ClinVar Annotator: match by term: Spastic ataxia 5

PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532

NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418

spastic ataxia 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NK6 homeobox 2

ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More...

NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515

Spastic Ataxia 9, Autosomal Recessive

term browser

Symbol

Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcineurin-like EF-hand protein 1

NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251

SPOAN syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin light chain 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPOAN syndrome

OMIM
CTD
ClinVar

PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532

NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672

Warburg micro syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB18, member RAS oncogene family

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome

PMID:25741868 PMID:28492532

NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043

G

RAB3 GTPase activating protein catalytic subunit 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome

PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747

NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169

G

RAB3 GTPase activating non-catalytic protein subunit 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome

NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478

G

TBC1 domain family, member 20

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121

Warburg micro syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB3 GTPase activating protein catalytic subunit 1

ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1

PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 More...

NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169

Warburg micro syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2

PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More...

NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478

Warburg micro syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAB18, member RAS oncogene family

OMIM:614222
ClinVar Annotator: match by term: Warburg micro syndrome 3

OMIM
MouseDO
ClinVar

PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443

NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043

Warburg micro syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBC1 domain family, member 20

OMIM:615663
ClinVar Annotator: match by term: Warburg micro syndrome 4

OMIM
MouseDO
ClinVar

PMID:24239381 PMID:25741868 PMID:32740904

NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121

WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger CCCH-type containing 12B

ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted

NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832

G

zinc finger C4H2-type containing

ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted

PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972

NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488

Wolfram syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

DNA:snp:cds:m.4216T>C (human)

RGD

NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

Wolfram syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300

OMIM
ClinVar
MouseDO

PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More...

NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602

Wolfram syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CDGSH iron sulfur domain 2

ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)

OMIM
ClinVar
CTD
RGD

PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More...

RGD:10045603, RGD:10045601

NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946

G

solute carrier family 9 member B1

ClinVar Annotator: match by term: Wolfram syndrome 2

PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532

NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179

X-linked mental retardation Gustavson type

term browser

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Object Name

Qualifiers

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA binding motif protein, X-linked

ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743

Term paths to the root

Path 1
Term	Annotations
disease	21128
Pathological Conditions, Signs and Symptoms	13332
Anatomical Pathological Conditions	2655
Atrophy	352
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY	1
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY	1
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY	1
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY	1
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy	65
childhood-onset neurodegeneration with brain atrophy	1
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	2
hippocampal atrophy	0
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	1
muscular atrophy +	86
optic atrophy +	187

paths to the root