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RGD DISEASE ONTOLOGY - ANNOTATIONS

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
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Accession:DOID:9004462 term browser 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:
Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7826670 PMID:20961953 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23789114 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21536718 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cyp1a2 cytochrome P450, family 1, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20961953 NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312 		JBrowse link
G Eno2 enolase 2 severity ISO associated with Alzheimer Disease RGD PMID:20105309 RGD:5508787 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Fermt1 FERM domain containing kindlin 1 ISO Kindler syndrome, OMIM:173650 RGD PMID:12668616 RGD:1600405 NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:7637259 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391472 NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391472 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22575539 NCBI chr 1:235,963,455...236,043,572
Ensembl chr 1:226,549,842...226,630,402 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16391472 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Trim63 tripartite motif containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19168726 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Costeff optic atrophy syndrome ClinVar PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO
ISS 		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 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
Allan-Herndon-Dudley syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a2 solute carrier family 16 member 2 ISO
ISS 		ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy | ClinVar Annotator: match by term: SLC16A2-related condition
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:72,791,096...72,914,299
Ensembl chr  X:68,723,261...68,848,771 		JBrowse link
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation ClinVar 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 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO 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:3126496 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES | 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 chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
Bosch-Boonstra-Schaaf optic atrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arb2a ARB2 cotranscriptional regulator A ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162 		JBrowse link
G Kiaa0825 KIAA0825 homolog ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO
ISS 		ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome | ClinVar Annotator: match by term: NR2F1-related condition
OMIM:615722 		OMIM
ClinVar
MouseDO		 PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 2:9,776,179...9,785,924
Ensembl chr 2:8,040,377...8,050,123 		JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,907,504...7,908,738 JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO 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... RGD:11576280 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: ROSENBERG-CHUTORIAN SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankfy1 ankyrin repeat and FYVE domain containing 1 ISS OMIM:270550 MouseDO NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964 		JBrowse link
G Sacs sacsin molecular chaperone ISO
ISS 		ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia of Charlevoix-Saguenay
OMIM:270550
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar 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 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: DYSTONIA 29, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | ClinVar Annotator: match by term: MECR-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:149,313,765...149,339,964
Ensembl chr 5:144,029,731...144,055,863 		JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline OMIM
ClinVar		 PMID:25741868 PMID:28097321 PMID:31855247 NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909 		JBrowse link
childhood-onset neurodegeneration with brain atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | ClinVar Annotator: match by term: UBTF-related disorder OMIM
ClinVar		 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 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO 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:9536098 PMID:10878669 PMID:11405816 PMID:11601506 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 		JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase susceptibility ISO 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
OMIM
ClinVar		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
early onset progressive encephalopathy with brain atrophy and thin corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | ClinVar Annotator: match by term: TBCD-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27666370 More... NCBI chr10:107,215,626...107,372,398
Ensembl chr10:106,717,367...106,874,122 		JBrowse link
G Znf750 zinc finger protein 750 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum ClinVar PMID:25741868 NCBI chr10:106,772,162...106,781,186
Ensembl chr10:106,772,669...106,781,200 		JBrowse link
Facial Dysmorphism with Multiple Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27585885 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTXR1-related condition | ClinVar Annotator: match by term: GAPO syndrome 		OMIM
CTD
ClinVar
RGD		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
Halperin-Birk syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:30464055 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273 		JBrowse link
Hereditary Optic Atrophies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO RGD PMID:9722958 RGD:734690 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Autosomal recessive optic atrophy ClinVar 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 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8662757 PMID:11695835 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10072046 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Optic Atrophy, Recessive ClinVar NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628 		JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar		 PMID:2854533 PMID:3248392 PMID:9536098 PMID:17576681 PMID:22405087 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:2854533 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 More... NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eefsec eukaryotic elongation factor, selenocysteine-tRNA-specific ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly ClinVar PMID:25741868 PMID:39753114 NCBI chr 4:122,276,907...122,473,049
Ensembl chr 4:120,707,133...120,915,779 		JBrowse link
G Med17 mediator complex subunit 17 ISO ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | ClinVar Annotator: match by term: MED17-related condition | ClinVar Annotator: match by term: Microcephaly, postnatal progressive, with seizures and brain atrophy OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 More... NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592 		JBrowse link
Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO 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
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
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 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy ClinVar 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
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
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 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy 		CTD
ClinVar		 PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7573056 More... NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy 		CTD
ClinVar		 PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 More... NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO 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
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO 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... RGD:5508187 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO 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 		ClinVar
RGD		 PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... RGD:5508703 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO 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
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO 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
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO 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: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
Ensembl chr MT:11,736...13,565 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO
ISS 		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 | ClinVar Annotator: match by term: Leber's optic atrophy
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
Ensembl chr MT:13,543...14,061 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:25741868 NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420 		JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO 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 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Leber optic atrophy
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:32516135 NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:28492532 NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15293270 PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies ClinVar PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 PMID:39825153 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20818383 PMID:22200994 PMID:25741868 More... NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420 		JBrowse link
Leber Optic Atrophy, Susceptibility To term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: LHON, MODIFIER OF ClinVar 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 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to ClinVar PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO OMIM NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISS MouseDO NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17701898 PMID:25741868 PMID:28492532 PMID:37451268 PMID:38491417 NCBI chr 7:9,048,135...9,076,751
Ensembl chr 7:8,397,406...8,425,988 		JBrowse link
mitochondrial DNA depletion syndrome 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) ClinVar PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31778857 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
Miyoshi muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Miyoshi myopathy ClinVar 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 		JBrowse link
G Dysf dysferlin ISO 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 		CTD
ClinVar		 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 		JBrowse link
Miyoshi muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dysf dysferlin ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 OMIM
ClinVar		 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 		JBrowse link
Miyoshi muscular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO 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:17008331 PMID:17132147 PMID:18414213 PMID:20096397 More... RGD:11570558 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 ClinVar PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 More... NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580 		JBrowse link
Multiple mitochondrial dysfunctions syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdx2 ferredoxin 2 ISO ClinVar Annotator: match by term: FDX2-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 8 | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM
ClinVar		 PMID:24281368 PMID:25741868 PMID:28492532 NCBI chr 8:27,881,091...27,886,230
Ensembl chr 8:19,604,916...19,609,849 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy ClinVar PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 PMID:39825153 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
Multiple mitochondrial dysfunctions syndrome 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr10:101,006,845...101,015,582
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
G Grin2c glutamate ionotropic receptor NMDA type subunit 2C ISO ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A ClinVar PMID:25741868 NCBI chr10:100,987,410...101,006,064
Ensembl chr10:100,488,431...100,506,427 		JBrowse link
muscular atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10996775 NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938 		JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IEP mRNA:decreased expression:skeletal muscle tissue RGD PMID:17029665 RGD:2325745 NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO RGD PMID:23792145 RGD:10059412 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 PMID:31227654 NCBI chr13:50,045,668...50,115,903
Ensembl chr13:47,493,949...47,564,318 		JBrowse link
G Cast calpastatin IEP protein:increased expression:gastrocnemius (rat) RGD PMID:28800153 RGD:405100967 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Ccng1 cyclin G1 IEP associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641 		JBrowse link
G Cfl1 cofilin 1 IEP protein:decreased phosphorylation:gastrocnemius (rat) RGD PMID:24711688 RGD:11570530 NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:242,959,760...242,995,065 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ISO CTD Direct Evidence: therapeutic CTD PMID:19032942 NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897 		JBrowse link
G Col1a2 collagen type I alpha 2 chain IEP RGD PMID:17916675 RGD:7257536 NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IDA RGD PMID:21235761 RGD:5130936 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Ctsl cathepsin L IEP mRNA:increased expression:soleus (rat) RGD PMID:16928772 RGD:2315576 NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548 		JBrowse link
G Dag1 dystroglycan 1 IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dmd dystrophin IEP RGD PMID:12107060 RGD:625642 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Endog endonuclease G IEP RGD PMID:15650125 RGD:9685359 NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932 		JBrowse link
G Fabp4 fatty acid binding protein 4 IEP associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr 2:93,488,251...93,492,961
Ensembl chr 2:91,580,885...91,585,578 		JBrowse link
G Fbxo32 F-box protein 32 IDA
ISO 		CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 7:91,620,925...91,654,491
Ensembl chr 7:89,730,232...89,765,436 		JBrowse link
G Fst follistatin ISO CTD Direct Evidence: therapeutic CTD PMID:33034787 NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:46,123,439...46,130,571 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:8937196 NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghr growth hormone receptor IEP mRNA:increased expression:soleus
associated with microgravity; mRNA:increased expression:gastrocnemius (rat) 		RGD PMID:12865352 PMID:14638460 RGD:2307376, RGD:151361116 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Hsf1 heat shock transcription factor 1 treatment IDA RGD PMID:21983076 RGD:10402941 NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 IEP mRNA:decreased expression:soleus muscle (rat) RGD PMID:21639837 RGD:5686383 NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:15,433,691...15,438,488 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: therapeutic CTD PMID:18467435 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta treatment IMP RGD PMID:18827022 RGD:7495773 NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16723379 NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Kif16b kinesin family member 16B ISO ClinVar Annotator: match by term: Muscular atrophy ClinVar PMID:25741868 NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019 		JBrowse link
G Kras KRAS proto-oncogene, GTPase IEP associated with microgravity; mRNA:increased expression:gastrocnemius (rat) RGD PMID:14638460 RGD:151361116 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Mstn myostatin IEP 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 		JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24163136 NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049
Ensembl chr  X:10,826,032...10,827,049 		JBrowse link
G Mtmr4 myotubularin related protein 4 IEP protein:decreased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342 		JBrowse link
G Mtor mechanistic target of rapamycin kinase treatment IMP RGD PMID:19260063 RGD:10041027 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Nedd4 NEDD4 E3 ubiquitin protein ligase IEP protein:increased expression:gastrocnemius RGD PMID:19125695 RGD:7242174 NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP protein:altered expression:nucleus RGD PMID:17622304 RGD:4892297 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Relb RELB proto-oncogene, NF-kB subunit IDA protein:decreased localization:soleus, nucleus RGD PMID:11919155 RGD:7777164 NCBI chr 1:88,385,717...88,413,380
Ensembl chr 1:79,257,725...79,285,507 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:decreased expression, decreased phosphorylation:soleus RGD PMID:17885021 RGD:1642984 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Serpine1 serpin family E member 1 IEP mRNA:increased expression:muscle RGD PMID:19574431 RGD:4144861 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sgca sarcoglycan, alpha IEP protein:decreased expression:gastrocnemius RGD PMID:12107060 RGD:625642 NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24163136 PMID:29374221 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Tfrc transferrin receptor IEP mRNA:decreased expression:gastrocnemius RGD PMID:18395385 RGD:2292027 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 IEP associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat) RGD PMID:14718385 RGD:1641826 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
G Timm23 translocase of inner mitochondrial membrane 23 IEP RGD PMID:20943961 RGD:13463487 NCBI chr16:7,410,308...7,436,392
Ensembl chr16:7,409,688...7,436,379
Ensembl chr 3:7,409,688...7,436,379
Ensembl chr 6:7,409,688...7,436,379 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24534773 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tomm20 translocase of outer mitochondrial membrane 20 IEP RGD PMID:20943961 RGD:13463487 NCBI chr19:71,822,429...71,832,420
Ensembl chr19:54,923,402...54,935,198 		JBrowse link
G Trim63 tripartite motif containing 63 IEP
ISO 		mRNA:increased expression:gastrocnemius
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:21139329 PMID:11679633 RGD:633893 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Ucp3 uncoupling protein 3 ISO mRNA:altered expression:quadriceps muscle (mouse) RGD PMID:19462004 RGD:10045654 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: therapeutic CTD PMID:24550007 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968 		JBrowse link
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 Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy OMIM
ClinVar		 PMID:1492653 PMID:7550341 PMID:8967754 PMID:10746566 PMID:10976639 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities OMIM
ClinVar		 PMID:38128568 NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339 		JBrowse link
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snf8 SNF8 subunit of ESCRT-II ISO ClinVar Annotator: match by term: Neurodevelopmental disorder plus optic atrophy ClinVar
OMIM		 PMID:38423010 NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc5 tetratricopeptide repeat domain 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism OMIM
ClinVar		 PMID:25741868 PMID:29302074 PMID:32439809 NCBI chr15:26,466,613...26,484,269
Ensembl chr15:23,993,048...24,010,668 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy OMIM
ClinVar		 PMID:15742102 PMID:25741868 PMID:33833240 PMID:34909687 NCBI chr10:86,436,089...86,490,185
Ensembl chr10:85,935,854...85,989,895 		JBrowse link
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 Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32103185 NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc7 exocyst complex component 7 ISO ClinVar Annotator: match by term: EXOC7-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy OMIM
ClinVar		 PMID:25741868 PMID:32103185 NCBI chr10:102,019,805...102,039,333
Ensembl chr10:101,520,927...101,540,561 		JBrowse link
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 Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy ClinVar
OMIM		 PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717 		JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 38 OMIM
ClinVar		 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 		JBrowse link
optic atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9054934 PMID:9466990 PMID:9536098 PMID:9666097 PMID:9781034 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:15723264 PMID:16835894 PMID:18157818 PMID:25741868 PMID:28492532 More... NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:2854533 PMID:25351951 PMID:25741868 PMID:28492532 PMID:30118607 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:60,874,719...60,976,341
Ensembl chr14:60,874,715...60,976,332 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30190612 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:26539208 PMID:29181157 PMID:32219868 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:18054307 PMID:21228398 PMID:22995991 PMID:25326637 PMID:25356976 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081 		JBrowse link
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:34828430 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9662399 PMID:11281458 PMID:12111638 PMID:17525176 PMID:22194652 More... NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:24033266 PMID:25741868 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
G Cep19 centrosomal protein 19 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:213,246,187...213,275,181 		JBrowse link
G Cfh complement factor H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31575699 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:20717163 PMID:24033266 PMID:25741868 PMID:27460420 PMID:30311386 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:11536077 PMID:15743887 PMID:17693388 PMID:20238023 PMID:21911670 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:3012021 PMID:11389483 PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:9,077,161...9,193,377 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395 		JBrowse link
G Cyria CYFIP related Rac1 interactor A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668 		JBrowse link
G Ddx1 DEAD-box helicase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar 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 		JBrowse link
G Dnm1l dynamin 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17460227 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:46,670,438...46,673,183 JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 More... NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Elovl1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:131,961,478...131,965,961
Ensembl chr 5:131,961,322...131,965,958 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:2965322 PMID:19194475 PMID:21576112 PMID:25741868 PMID:28492532 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr10:101,006,845...101,015,582
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:16269441 PMID:25741868 PMID:28492532 PMID:36460718 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 More... NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:10951519 PMID:11328726 PMID:12325031 PMID:25741868 PMID:28492532 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:35835773 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:109,738,622...109,754,416 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:141,758,466...141,797,963 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:115,139,548...115,263,620
Ensembl chr 9:107,692,770...107,817,478 		JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956 		JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307 		JBrowse link
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:149,313,765...149,339,964
Ensembl chr 5:144,029,731...144,055,863 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:22939401 PMID:25741868 PMID:28492532 NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:16762064 PMID:19889647 PMID:20350294 PMID:21258814 PMID:21519004 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25227500 PMID:25741868 PMID:26681805 PMID:28224992 PMID:28492532 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:111,786,709...111,802,220 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:18327255 PMID:25741868 PMID:28289063 PMID:28492532 PMID:30793526 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:28027978 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:1463007 PMID:1634041 PMID:5511487 PMID:8470982 PMID:9012411 More... NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr12:37,922,532...37,936,219
Ensembl chr12:32,258,435...32,275,258 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:32581362 NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:35902954 NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14729820 NCBI chr 3:97,332,477...97,339,654
Ensembl chr 3:76,876,646...76,883,824 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:23188109 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:17564971 PMID:19718767 PMID:19898638 PMID:25741868 PMID:28492532 NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:23300014 PMID:24462372 PMID:25741868 PMID:26986877 PMID:32275123 More... NCBI chr 2:9,776,179...9,785,924
Ensembl chr 2:8,040,377...8,050,123 		JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO
ISS 		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:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 More... RGD:7800714 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 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 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr15:24,422,876...24,432,709
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24033266 PMID:25741868 PMID:27766948 PMID:28492532 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:1301993 PMID:2063923 PMID:9398847 PMID:10447258 PMID:10480353 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25133751 PMID:25741868 PMID:27229527 PMID:28492532 PMID:32483926 NCBI chr17:78,238,747...78,255,645
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:123,802,512...123,820,942 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:2854533 PMID:25351951 PMID:25741868 PMID:28492532 PMID:34056600 NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24265693 PMID:25741868 PMID:28492532 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:1547381 PMID:2143091 PMID:2526663 PMID:7579448 PMID:8765219 More... NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:18161617 PMID:25741868 PMID:28492532 PMID:31213501 PMID:31618092 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:19074801 PMID:25741868 PMID:28492532 NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:16269441 PMID:25741868 PMID:28492532 PMID:36460718 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 7:1,341,172...1,346,863
Ensembl chr 7:1,340,934...1,351,558 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:9,373,927...9,380,597 		JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223 		JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:19913029 PMID:25741868 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:28912962 PMID:30820151 PMID:34426522 More... NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:18791550 PMID:25741868 PMID:28492532 NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:20826268 PMID:22466457 PMID:23281133 PMID:23619761 PMID:23745001 More... NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:16123401 PMID:16339905 PMID:18055816 PMID:21224891 PMID:24265693 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:33574475 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Rpl24 ribosomal protein L24 ISS OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708 MouseDO NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370 		JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:166,831,663...166,850,009 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24265693 PMID:25741868 PMID:28492532 NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521 		JBrowse link
G Slbp stem-loop histone mRNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy 		CTD
ClinVar		 PMID:25741868 PMID:26168012 PMID:28492532 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:32036094 NCBI chr 2:112,065,286...112,171,319
Ensembl chr 2:112,065,286...112,171,313 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284 		JBrowse link
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:107,215,626...107,372,398
Ensembl chr10:106,717,367...106,874,122 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:12136232 PMID:16963483 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:3442652 PMID:17896313 PMID:22135276 PMID:24033266 PMID:25741868 More... NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 5:35,318,621...35,392,090
Ensembl chr 5:35,318,635...35,389,420 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutation:cds:p.R456H (rs1801206) (human)
ClinVar Annotator: match by term: Optic atrophy 		ClinVar
RGD		 PMID:3095763 PMID:3126496 PMID:3442652 PMID:3478949 PMID:3620803 More... RGD:8694404 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 PMID:30868567 NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868 NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055 		JBrowse link
optic atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase susceptibility ISO 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 		OMIM
ClinVar
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 chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic Atrophy, Dominant ClinVar 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 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations, deletion:multiple RGD PMID:21538838 RGD:7800683 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
optic atrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn4ip1 reticulon 4 interacting protein 1 ISO 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 OMIM
ClinVar		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338 		JBrowse link
optic atrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Optic atrophy 11 | ClinVar Annotator: match by term: YME1L1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27495975 PMID:28492532 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335 		JBrowse link
optic atrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Optic atrophy 12 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:26539208 PMID:26633542 PMID:28449981 More... NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Optic atrophy 12 ClinVar PMID:25741868 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
Optic Atrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities OMIM
ClinVar		 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 		JBrowse link
Optic Atrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Optic atrophy 14 OMIM
ClinVar		 PMID:33632269 NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:111,786,709...111,802,220 		JBrowse link
Optic Atrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: MCAT-related condition | ClinVar Annotator: match by term: Optic atrophy 15 OMIM
ClinVar		 PMID:25741868 PMID:33918393 NCBI chr 7:116,573,632...116,585,767
Ensembl chr 7:114,693,612...114,704,542 		JBrowse link
Optic Atrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Optic atrophy 16 OMIM
ClinVar		 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 More... NCBI chr 5:149,313,765...149,339,964
Ensembl chr 5:144,029,731...144,055,863 		JBrowse link
optic atrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Optic atrophy 2 ClinVar NCBI chr  X:17,448,195...17,454,117
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy 3 with cataract | 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 		JBrowse link
optic atrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Optic atrophy 5
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15635063 PMID:16199547 PMID:20696759 PMID:25741868 PMID:26604000 More... NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Optic atrophy 5 ClinVar PMID:25741868 NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125 		JBrowse link
optic atrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem126a transmembrane protein 126A ISO 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 | ClinVar Annotator: match by term: TMEM126A-related condition 		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 		JBrowse link
optic atrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO 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 OMIM
ClinVar		 PMID:3248392 PMID:16199547 PMID:24088041 PMID:25351951 PMID:25741868 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO 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 ClinVar 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 		JBrowse link
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 Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome ClinVar PMID:25741868 PMID:30250212 PMID:37046037 NCBI chr10:101,006,845...101,015,582
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc88a coiled coil domain containing 88A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:28492532 NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar 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 		JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO 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 		JBrowse link
Primrose Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb20 zinc finger and BTB domain containing 20 ISO 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 | ClinVar Annotator: match by term: ZBTB20-related condition 		CTD
ClinVar
OMIM		 PMID:6809950 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 More... NCBI chr11:57,052,129...57,791,214
Ensembl chr11:57,072,880...57,510,210 		JBrowse link
Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 More... NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
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 Als2cl ALS2 C-terminal like ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852 		JBrowse link
G Camp cathelicidin antimicrobial peptide ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543 		JBrowse link
G Ccdc12 coiled-coil domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Ccr9 C-C motif chemokine receptor 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:123,395,813...123,413,969 		JBrowse link
G Ccrl2 C-C motif chemokine receptor like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664 		JBrowse link
G Cdc25a cell division cycle 25A ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Cripto cripto, EGF-CFC family member ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308 		JBrowse link
G Cspg5 chondroitin sulfate proteoglycan 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758 		JBrowse link
G Cxcr6 C-X-C motif chemokine receptor 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:109,265,676...109,268,568 		JBrowse link
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381 		JBrowse link
G Elp6 elongator acetyltransferase complex subunit 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067 		JBrowse link
G Fbxw12 F-box and WD repeat domain containing 12 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813 		JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166 		JBrowse link
G Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,459,467...110,504,492
Ensembl chr 8:110,459,383...110,505,252 		JBrowse link
G Klhl18 kelch-like family member 18 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,279,081...119,337,850
Ensembl chr 8:110,400,681...110,459,323 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		JBrowse link
G Limd1 LIM domain containing 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714 		JBrowse link
G Lrrc2 leucine rich repeat containing 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,814,514...119,847,587
Ensembl chr 8:110,938,165...110,969,185 		JBrowse link
G Ltf lactotransferrin ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:110,999,948...111,022,795 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,264,098...109,264,188 JBrowse link
G Myl3 myosin light chain 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816 		JBrowse link
G Nbeal2 neurobeachin-like 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,603,220...110,633,612
Ensembl chr 8:110,599,389...110,633,707 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,511,484...109,522,622
Ensembl chr 8:109,511,658...109,522,246 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194 		JBrowse link
G Nme6 NME/NM23 nucleoside diphosphate kinase 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,832,085...109,839,301
Ensembl chr 8:109,832,589...109,839,301 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634 		JBrowse link
G Plxnb1 plexin B1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,743,470...109,769,153
Ensembl chr 8:109,744,697...109,769,027 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,271,608...118,337,332
Ensembl chr 8:109,395,833...109,455,628 		JBrowse link
G Prss50 serine protease 50 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,842,525...110,848,855
Ensembl chr 8:110,842,671...110,848,802 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729 		JBrowse link
G Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,239,213...119,261,675
Ensembl chr 8:110,360,804...110,383,271 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy OMIM
ClinVar		 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 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359 		JBrowse link
G Rtp3 receptor (chemosensory) transporter protein 3 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,970,154...110,975,000
Ensembl chr 8:110,970,160...110,974,699 		JBrowse link
G Sacm1l SAC1 like phosphatidylinositide phosphatase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,176,017...123,232,413
Ensembl chr 8:123,172,536...123,232,413 		JBrowse link
G Scap SREBF chaperone ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,306,026...110,360,677
Ensembl chr 8:110,306,031...110,360,666 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,691,504...109,706,411
Ensembl chr 8:109,691,522...109,706,408 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:109,365,002...109,386,512 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778 		JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:132,159,768...132,200,016
Ensembl chr 8:123,281,472...123,322,573 		JBrowse link
G Smarcc1 SWI/SNF related BAF chromatin remodeling complex subunit C1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720 		JBrowse link
G Spink8 serine peptidase inhibitor, Kazal type 8 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,814,062...109,828,994
Ensembl chr 8:109,817,365...109,828,994 		JBrowse link
G Tma7 translation machinery associated 7 homolog ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,604,680...118,609,368
Ensembl chr 8:109,726,196...109,735,474 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,468,223...118,479,968
Ensembl chr 8:109,589,706...109,601,480 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:118,146,608...118,153,024
Ensembl chr 8:109,268,079...109,274,499 		JBrowse link
G Xcr1 X-C motif chemokine receptor 1 ISO ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy ClinVar PMID:28492532 NCBI chr 8:123,479,454...123,516,168
Ensembl chr 8:123,479,590...123,487,226 		JBrowse link
Sarcopenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 severity IEP RNA:increased expression:plantaris muscle: RGD PMID:17029665 RGD:2325745 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Ak1 adenylate kinase 1 IEP protein:increased expression:gastrocnemius muscle (rat) RGD PMID:17611631 RGD:5147990 NCBI chr 3:15,912,431...15,923,045
Ensembl chr 3:15,912,485...15,923,041 		JBrowse link
G Ar androgen receptor treatment ISO
IDA 		RGD PMID:24177288 PMID:17049844 RGD:10043306, RGD:10043311 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:increased localization:gastrocnemius (rat) RGD PMID:20850499 RGD:13703063 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP mRNA:decreased expression:plantaris RGD PMID:17029665 RGD:2325745 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cav1 caveolin 1 severity ISO DNA:SNP:intron:14713G>A (rs3807987) (human) RGD PMID:24815842 RGD:10045568 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment ISO RGD PMID:20022929 RGD:10043356 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO protein:increased expression:thigh muscle (mouse) RGD PMID:21982926 RGD:10401269 NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412 		JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO mRNA:increased expression:vastus lateralis muscle (human) RGD PMID:15687482 RGD:10401226 NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon IDA RGD PMID:15187001 RGD:10395315 NCBI chr11:93,898,814...93,909,431
Ensembl chr11:80,394,433...80,404,419 		JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IEP RGD PMID:15187001 RGD:10395315 NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:97,672,766...97,706,225 		JBrowse link
G Fis1 fission, mitochondrial 1 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr12:25,345,239...25,360,135
Ensembl chr12:19,708,558...19,723,377 		JBrowse link
G Foxo4 forkhead box O4 IEP RGD PMID:16870627 RGD:10402356 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:66,385,558...66,392,115 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutation: :p.C282Y (rs1800562) (human) RGD PMID:30657865 RGD:14746966 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:12919235 RGD:10045859 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mfn2 mitofusin 2 IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Nfkbia NFKB inhibitor alpha IEP protein:increased expression:soleus RGD PMID:15665035 RGD:10413861 NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase IEP protein:increased expression:extensor digitorum longus (rat) RGD PMID:23220115 RGD:12738219 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP mRNA:altered expression:gastrocnemius muscle (rat) RGD PMID:16870628 RGD:10053649 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Supv3l1 Suv3 like RNA helicase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19145458 NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054 		JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Nphp1 nephrocystin 1 ISO 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: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia 		CTD
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar 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 		JBrowse link
G Wdr19 WD repeat domain 19 ISO 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 		ClinVar
RGD		 PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More... RGD:11552600 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO 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 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ motif containing B1 ISO 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... RGD:11537383 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3442652 PMID:9536098 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 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 More... NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Catspere catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979 		JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:22190896 PMID:28492532 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226 		JBrowse link
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:90,065,900...90,075,386
Ensembl chr14:6,567,733...6,568,056 		JBrowse link
G Desi2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:92,609,791...92,618,580
Ensembl chr13:90,074,181...90,086,588 		JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:28492532 NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7 OMIM
ClinVar		 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 		JBrowse link
G Spmip3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8 OMIM
ClinVar		 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 		JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 9 | ClinVar Annotator: match by term: TRAF3IP1-related condition OMIM
ClinVar		 PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 More... NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
spastic ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 onset ISO DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human)
ClinVar Annotator: match by term: Spastic ataxia 		ClinVar
RGD		 PMID:25741868 PMID:22022284 RGD:11532672 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:59,946,153...59,958,255 		JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:87,261,964...87,286,911
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr  X:156,367,582...156,464,085
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 More... NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752 		JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:36,910,427...37,168,944 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698 		JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:123,621,510...124,742,585
Ensembl chr 5:119,140,533...119,510,552 		JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
Ensembl chr10:2,419,038...2,448,369 		JBrowse link
G Exosc8 exosome component 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr19:56,222,240...56,273,480
Ensembl chr19:39,312,906...39,364,153 		JBrowse link
G Fat2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216 		JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:34445196 NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545 		JBrowse link
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr17:86,241,384...86,443,501
Ensembl chr17:86,241,384...86,443,480 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:86,501,864...86,509,333
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,132,603...53,199,374 		JBrowse link
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:110,851,378...110,891,114 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 More... NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Pum1 pumilio RNA-binding family member 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:34445196 NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Slc1a3 solute carrier family 1 member 3 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:57,755,497...57,830,605 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 More... NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:34445196 NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar 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 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Ttbk2 tau tubulin kinase 2 ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:128,144,851...128,256,630
Ensembl chr 3:107,697,340...107,803,223 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:25741868 NCBI chr19:68,365,687...68,374,741
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Spastic ataxia ClinVar PMID:12955714 PMID:15605410 PMID:16353398 PMID:17603484 PMID:18060660 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr 4:158,021,454...158,028,905 JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 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 		JBrowse link
Spastic Ataxia 10, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25658047 PMID:25741868 PMID:26185144 More... NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799 		JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36047608 NCBI chr 3:13,049,220...13,059,836
Ensembl chr 3:13,033,745...13,059,930 		JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Camta2 calmodulin binding transcription activator 2 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,383,450...55,401,838
Ensembl chr10:55,383,450...55,401,558 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Eno3 enolase 3 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,868,880...55,876,099
Ensembl chr10:55,366,975...55,375,921 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,900,610...55,912,975
Ensembl chr10:55,401,982...55,414,114 		JBrowse link
G Kif1c kinesin family member 1C ISO 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 		JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,360,603...55,364,927
Ensembl chr10:55,360,543...55,364,927 		JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,357,590...55,360,441
Ensembl chr10:55,357,597...55,360,410 		JBrowse link
G Spag7 sperm associated antigen 7 ISO ClinVar Annotator: match by term: Spastic ataxia 2 ClinVar PMID:28492532 NCBI chr10:55,377,249...55,383,404
Ensembl chr10:55,377,249...55,383,404 		JBrowse link
spastic ataxia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic ataxia 3 		OMIM
CTD
ClinVar		 PMID:22448145 PMID:25741868 PMID:28492532 NCBI chr 9:56,720,408...56,729,991
Ensembl chr 9:56,720,983...56,723,820 		JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Autosomal recessive spastic ataxia ClinVar PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 More... NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
spastic ataxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4 OMIM
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 		JBrowse link
spastic ataxia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5 OMIM
ClinVar		 PMID:22022284 PMID:24272953 PMID:25401298 PMID:25741868 PMID:26454370 More... NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418 		JBrowse link
spastic ataxia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 More... NCBI chr 1:203,811,582...203,813,122
Ensembl chr 1:194,381,975...194,383,515 		JBrowse link
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chp1 calcineurin-like EF-hand protein 1 ISO OMIM NCBI chr 3:126,989,800...127,025,071
Ensembl chr 3:106,536,004...106,571,251 		JBrowse link
SPOAN syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc2 kinesin light chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KLC2-related condition | ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy 		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 		JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome 		CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chr13:41,908,179...41,981,611
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: Warburg micro syndrome 1 OMIM
ClinVar		 PMID:8249951 PMID:9536098 PMID:15216542 PMID:15216543 PMID:15696165 More... NCBI chr13:41,908,179...41,981,611
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 OMIM
ClinVar		 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 		JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO
ISS 		ClinVar Annotator: match by term: RAB18-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM:614222 		OMIM
ClinVar
MouseDO		 PMID:18414213 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 More... NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO
ISS 		ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM:615663 		OMIM
ClinVar
MouseDO		 PMID:24239381 PMID:25741868 PMID:28492532 PMID:32740904 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Wieacker-Wolff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Miles-Carpenter syndrome | 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 | ClinVar Annotator: match by term: ZC4H2-related condition
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 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO 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:11161832 PMID:11244483 PMID:12754709 More... RGD:1599813 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO
ISS 		ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300 		OMIM
ClinVar
MouseDO		 PMID:1161832 PMID:1615141 PMID:3095763 PMID:3126496 PMID:3387915 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: CISD2-related condition | 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 		JBrowse link
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406 		JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar 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 		JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743 		JBrowse link
Term paths to the root