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G
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Ahr
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aryl hydrocarbon receptor
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7826670 PMID:20961953 |
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NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
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G
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Cln6
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CLN6, transmembrane ER protein
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:23789114 |
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NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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G
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Clu
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clusterin
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:21536718 |
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NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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G
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Cyp1a2
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cytochrome P450, family 1, subfamily a, polypeptide 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:20961953 |
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NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312
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G
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Eno2
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enolase 2
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severity
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ISO
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associated with Alzheimer Disease
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RGD |
PMID:20105309 |
RGD:5508787 |
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980
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G
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Fermt1
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FERM domain containing kindlin 1
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ISO
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Kindler syndrome, OMIM:173650
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RGD |
PMID:12668616 |
RGD:1600405 |
NCBI chr 3:140,624,434...140,666,419
Ensembl chr 3:120,171,561...120,213,555
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G
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Il1rn
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interleukin 1 receptor antagonist
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:7637259 |
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NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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G
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Mapk3
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mitogen activated protein kinase 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16391472 |
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NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:181,366,637...181,372,863
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G
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Rps6kb1
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ribosomal protein S6 kinase B1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16391472 |
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NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908
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G
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Slc1a1
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solute carrier family 1 member 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:22575539 |
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NCBI chr 1:235,963,455...236,043,572
Ensembl chr 1:226,549,842...226,630,402
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G
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Stat3
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signal transducer and activator of transcription 3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16391472 |
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NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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G
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Trim63
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tripartite motif containing 63
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:19168726 |
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NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322
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G
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Dnajc19
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DnaJ heat shock protein family (Hsp40) member C19
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ISO
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ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
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ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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G
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Opa1
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OPA1, mitochondrial dynamin like GTPase
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ISO
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ClinVar Annotator: match by term: Costeff optic atrophy syndrome
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ClinVar |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17306754 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30165240 PMID:31500643 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:37091313 More...
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NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109
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G
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Opa3
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outer mitochondrial membrane lipid metabolism regulator OPA3
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ISO ISS
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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
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OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:31119193 PMID:31928268 PMID:32855858 PMID:32883240 More...
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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
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G
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Ctnnb1
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catenin beta 1
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ISO
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ClinVar Annotator: match by term: Alazami syndrome
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ClinVar |
PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:28333917 PMID:28492532 PMID:28575650 More...
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NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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G
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Larp7
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La ribonucleoprotein 7, transcriptional regulator
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ISO
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ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 PMID:25753663 PMID:26374271 PMID:26539891 PMID:26607181 PMID:28492532 PMID:29619239 PMID:30006060 PMID:30426380 PMID:31074943 PMID:32860008 More...
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NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:215,997,649...216,012,865
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G
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Slc16a2
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solute carrier family 16 member 2
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ISO ISS
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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
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OMIM ClinVar MouseDO CTD |
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16131597 PMID:16417886 PMID:16957765 PMID:17356046 PMID:18187543 PMID:18398436 PMID:18414213 PMID:18636565 PMID:20083155 PMID:20301789 PMID:21836662 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27081503 PMID:27212794 PMID:27805744 PMID:28492532 PMID:30369548 PMID:30497070 PMID:31127274 PMID:31410843 PMID:31585110 PMID:31690835 PMID:32277047 PMID:32559475 PMID:33141165 PMID:33504798 PMID:33847015 PMID:33860439 PMID:39825153 More...
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NCBI chr X:72,791,096...72,914,299
Ensembl chr X:68,723,261...68,848,771
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G
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Sacs
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sacsin molecular chaperone
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ISO
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ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
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ClinVar |
PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 PMID:31692161 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G
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Cdk13
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cyclin-dependent kinase 13
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ISO
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ClinVar Annotator: match by term: Wolfram-like disorder
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ClinVar |
PMID:25741868 PMID:28492532 PMID:33879837 |
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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G
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Wfs1
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wolframin ER transmembrane glycoprotein
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ISO
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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
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OMIM ClinVar CTD |
PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12707373 PMID:12754709 PMID:12913071 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20069065 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22781099 PMID:23373429 PMID:23429432 PMID:23596069 PMID:23981289 PMID:24033266 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25262649 PMID:25388789 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:26969326 PMID:27045389 PMID:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:28974383 PMID:29207974 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32645618 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33098801 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34837038 PMID:34997062 PMID:35018440 PMID:35206658 PMID:35469785 PMID:35472603 PMID:35602877 PMID:35872528 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:37041640 PMID:37108562 PMID:37277527 PMID:37337769 PMID:37415600 PMID:37508961 PMID:37510321 PMID:37719678 PMID:38219857 PMID:38400873 More...
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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Opa1
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OPA1, mitochondrial dynamin like GTPase
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susceptibility
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ISO
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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
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CTD OMIM ClinVar |
PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17306754 PMID:17576681 PMID:17722006 PMID:18222991 PMID:18496845 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25641387 PMID:25741868 PMID:25794858 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27890673 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:30165240 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:37091313 PMID:37196654 PMID:38703036 More...
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NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109
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G
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Arb2a
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ARB2 cotranscriptional regulator A
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ISO
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ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
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ClinVar |
PMID:24462372 |
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NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
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G
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Kiaa0825
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KIAA0825 homolog
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ISO
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ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
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ClinVar |
PMID:24462372 |
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NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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G
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Nr2f1
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nuclear receptor subfamily 2, group F, member 1
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ISO ISS
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ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome | ClinVar Annotator: match by term: NR2F1-related condition OMIM:615722
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OMIM ClinVar MouseDO |
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26416026 PMID:26986877 PMID:28492532 PMID:28617965 PMID:28963436 PMID:29410510 PMID:29597095 PMID:30755392 PMID:31393201 PMID:31729143 PMID:32275123 PMID:32407885 PMID:32412696 PMID:32712214 PMID:34466801 More...
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NCBI chr 2:9,776,179...9,785,924
Ensembl chr 2:8,040,377...8,050,123
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G
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Pou5f2
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POU domain class 5, transcription factor 2
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ISO
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ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
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ClinVar |
PMID:24462372 |
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NCBI chr 2:7,907,504...7,908,738
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G
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Atp1a3
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ATPase Na+/K+ transporting subunit alpha 3
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ISO
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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
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ClinVar CTD OMIM RGD |
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25656163 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27577505 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:31942761 PMID:32581362 PMID:32883312 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:35945798 PMID:36192182 PMID:24468074 More...
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RGD:11576280 |
NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918
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G
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Prps1
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phosphoribosyl pyrophosphate synthetase 1
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ISO
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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
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OMIM ClinVar CTD |
PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
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NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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G
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Ankfy1
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ankyrin repeat and FYVE domain containing 1
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ISS
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OMIM:270550
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MouseDO |
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NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
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G
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Sacs
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sacsin molecular chaperone
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ISO ISS
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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
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OMIM ClinVar MouseDO CTD |
PMID:8472930 PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16007637 PMID:16198375 PMID:16199547 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:17576681 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21410841 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22209141 PMID:22287014 PMID:22307627 PMID:22411849 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:23785480 PMID:24030952 PMID:24033266 PMID:24108619 PMID:24123366 PMID:24164681 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24418350 PMID:24457356 PMID:25237835 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:26633542 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27412140 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27974811 PMID:27980752 PMID:28050010 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29093530 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29449188 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:29970176 PMID:30271475 PMID:30311378 PMID:30460542 PMID:30638817 PMID:30665703 PMID:30680480 PMID:30840144 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31146700 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31636600 PMID:31637422 PMID:31673878 PMID:31681433 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:32625235 PMID:32709422 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34085946 PMID:34121011 PMID:34426522 PMID:34429451 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35328054 PMID:35499206 PMID:35578252 PMID:35731353 PMID:35904974 PMID:36233161 PMID:36600740 PMID:36833258 PMID:36905089 PMID:37926714 PMID:38261029 PMID:38361118 PMID:38534332 PMID:38703036 PMID:38911600 PMID:38928084 PMID:39825153 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G
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Sgcg
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sarcoglycan, gamma
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ISO
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ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
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ClinVar |
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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G
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Tgfbr1
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transforming growth factor, beta receptor 1
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ISO
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ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
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ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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G
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Mecr
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mitochondrial trans-2-enoyl-CoA reductase
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ISO
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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
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:31137067 PMID:31160820 PMID:32313153 PMID:32445240 PMID:33401012 PMID:34052969 PMID:34988976 PMID:36262091 PMID:37653044 PMID:37734847 More...
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NCBI chr 5:149,313,765...149,339,964
Ensembl chr 5:144,029,731...144,055,863
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G
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Slc44a1
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solute carrier family 44 member 1
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ISO
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ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
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OMIM ClinVar |
PMID:25741868 PMID:28097321 PMID:31855247 |
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NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
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G
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Ubtf
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upstream binding transcription factor
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ISO
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ClinVar Annotator: match by term: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | ClinVar Annotator: match by term: UBTF-related disorder
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OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 PMID:30517966 PMID:31931739 PMID:33026538 PMID:39366741 More...
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NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
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G
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Btk
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Bruton tyrosine kinase
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ISO
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ClinVar Annotator: match by term: Deafness dystonia syndrome
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ClinVar |
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NCBI chr X:102,016,070...102,055,448
Ensembl chr X:97,722,802...97,761,853
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G
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Timm8a1
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translocase of inner mitochondrial membrane 8A1
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ISO
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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)
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ClinVar CTD OMIM RGD |
PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:11956200 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17576681 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:21984432 PMID:22736418 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:15710860 PMID:17471106 PMID:11601506 More...
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RGD:13209130, RGD:13209136, RGD:13209134 |
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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G
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Opa1
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OPA1, mitochondrial dynamin like GTPase
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susceptibility
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ISO
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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
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CTD OMIM ClinVar |
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11810270 PMID:11855928 PMID:12036970 PMID:12488262 PMID:12566046 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:16158427 PMID:16240368 PMID:16513463 PMID:16698014 PMID:17167772 PMID:17188070 PMID:17306754 PMID:17722006 PMID:17724190 PMID:18065439 PMID:18158317 PMID:18195150 PMID:18204809 PMID:18222991 PMID:18496845 PMID:19029523 PMID:19303950 PMID:19319978 PMID:19900585 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417568 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21112924 PMID:21636302 PMID:21646330 PMID:21731710 PMID:21745197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:23250881 PMID:23384603 PMID:23388408 PMID:23401657 PMID:23916084 PMID:24086434 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25564500 PMID:25641387 PMID:25699009 PMID:25741868 PMID:25794858 PMID:26194196 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26867657 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27858935 PMID:27860320 PMID:27890673 PMID:28125838 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28848318 PMID:28926202 PMID:28981474 PMID:29111013 PMID:29261183 PMID:29389947 PMID:30165240 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31589614 PMID:31609081 PMID:31673222 PMID:31781369 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32141364 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34008892 PMID:34014035 PMID:34242285 PMID:34426522 PMID:34732400 PMID:34758253 PMID:34837038 PMID:35146926 PMID:35741767 PMID:35884828 PMID:37091313 PMID:37196654 PMID:37510321 PMID:39033378 More...
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NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109
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G
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Tbcd
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tubulin folding cofactor D
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ISO
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ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | ClinVar Annotator: match by term: TBCD-related condition
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27666370 PMID:27666374 PMID:27807845 PMID:28158450 PMID:28492532 PMID:29769041 PMID:30426380 PMID:30847515 PMID:30919572 PMID:31019026 PMID:31240573 PMID:31395954 PMID:31569255 PMID:32705489 PMID:33190326 PMID:34120799 PMID:34423067 PMID:35586607 PMID:36114283 PMID:37644014 More...
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NCBI chr10:107,215,626...107,372,398
Ensembl chr10:106,717,367...106,874,122
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G
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Znf750
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zinc finger protein 750
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ISO
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ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
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ClinVar |
PMID:25741868 |
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NCBI chr10:106,772,162...106,781,186
Ensembl chr10:106,772,669...106,781,200
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G
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Gli2
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GLI family zinc finger 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:27585885 |
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NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574
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G
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Shh
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sonic hedgehog signaling molecule
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:27585885 |
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NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:6,954,017...6,963,170
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G
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Antxr1
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ANTXR cell adhesion molecule 1
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ISO
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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
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OMIM CTD ClinVar RGD |
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868 PMID:28492532 PMID:23602711 More...
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RGD:9684854 |
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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G
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Sec31a
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SEC31 homolog A, COPII coat complex component
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
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OMIM ClinVar |
PMID:25741868 PMID:30464055 |
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NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
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G
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Cask
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calcium/calmodulin dependent serine protein kinase
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ISO
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RGD |
PMID:9722958 |
RGD:734690 |
NCBI chr X:11,572,328...11,915,831
Ensembl chr X:8,899,833...9,238,694
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G
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Gucy2e
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guanylate cyclase 2E
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ISO
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ClinVar Annotator: match by term: Autosomal recessive optic atrophy
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ClinVar |
PMID:10951519 PMID:11328726 PMID:16199547 PMID:25741868 PMID:28492532 |
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G
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Mt-nd4
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:8662757 PMID:11695835 |
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G
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Mt-nd6
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:10072046 |
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G
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Tmem126a
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transmembrane protein 126A
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ISO
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ClinVar Annotator: match by term: Optic Atrophy, Recessive
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ClinVar |
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NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
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G
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Aco2
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aconitase 2
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ISO
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ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
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OMIM ClinVar |
PMID:2854533 PMID:3248392 PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:27435318 PMID:27528516 PMID:28492532 PMID:28545339 PMID:28559085 PMID:29564393 PMID:29577077 PMID:30118607 PMID:30689204 PMID:31130284 PMID:32214227 PMID:32449285 PMID:32483926 PMID:32519519 PMID:34056600 PMID:34234304 PMID:34426522 PMID:36294366 PMID:38703036 More...
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NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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G
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Polr3h
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RNA polymerase III subunit H
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ISO
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ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
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ClinVar |
PMID:2854533 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:27435318 PMID:28492532 PMID:29564393 PMID:30689204 PMID:31130284 PMID:32519519 PMID:34056600 More...
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NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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G
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Eefsec
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eukaryotic elongation factor, selenocysteine-tRNA-specific
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ISO
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ClinVar Annotator: match by term: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
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ClinVar |
PMID:25741868 PMID:39753114 |
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NCBI chr 4:122,276,907...122,473,049
Ensembl chr 4:120,707,133...120,915,779
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G
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Med17
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mediator complex subunit 17
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ISO
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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
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OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:20950787 PMID:25741868 PMID:26004231 PMID:26240385 PMID:28492532 PMID:30345598 PMID:30919572 More...
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NCBI chr 8:12,101,594...12,120,592
Ensembl chr 8:12,101,594...12,120,592
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G
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Apoa4
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apolipoprotein A4
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ISO
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protein:increased expression:cerebrospinal fluid (human)
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RGD |
PMID:18061280 |
RGD:5685659 |
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G
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Ephx1
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epoxide hydrolase 1
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onset
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ISO
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DNA:missense mutation:cds:p.Y113H (human)
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RGD |
PMID:15838728 |
RGD:5688732 |
NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235
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G
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Il1a
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interleukin 1 alpha
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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G
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Il1b
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interleukin 1 beta
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:7979221 |
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NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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G
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Lrat
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lecithin retinol acyltransferase
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16250670 PMID:17011878 |
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NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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G
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Mt-atp6
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mitochondrially encoded ATP synthase membrane subunit 6
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susceptibility
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ISO
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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)
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ClinVar CTD RGD |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:7668837 PMID:7726182 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8554662 PMID:8602753 PMID:8644724 PMID:8739943 PMID:8750605 PMID:9199572 PMID:9221962 PMID:9270604 PMID:9329425 PMID:9501263 PMID:9556461 PMID:9568930 PMID:9631394 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11119722 PMID:11245730 PMID:11371515 PMID:11382202 PMID:11730668 PMID:11731285 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:12915481 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16049925 PMID:16217706 PMID:16849371 PMID:17352390 PMID:17452590 PMID:17663470 PMID:18055910 PMID:18461509 PMID:19160410 PMID:19454486 PMID:19626676 PMID:19667215 PMID:19875463 PMID:20056103 PMID:20301353 PMID:21364701 PMID:21819970 PMID:22577227 PMID:22789932 PMID:22933740 PMID:23206802 PMID:24002810 PMID:24088041 PMID:25037980 PMID:25741868 PMID:26633545 PMID:27450679 PMID:27812026 PMID:29350304 PMID:29602698 PMID:30143805 PMID:31181185 PMID:31187502 PMID:31379041 PMID:31461494 PMID:32042921 PMID:32313153 PMID:32906214 PMID:35159298 PMID:39825153 PMID:19026397 PMID:20454697 More...
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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
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G
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Mt-atp8
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mitochondrially encoded ATP synthase membrane subunit 8
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ISO
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ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16849371 PMID:17452590 PMID:19667215 PMID:19875463 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 PMID:39825153 More...
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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
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G
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Mt-co1
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mitochondrially encoded cytochrome c oxidase I
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ISO
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ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
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ClinVar |
PMID:1322638 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1634041 PMID:1732158 PMID:2137962 PMID:8042671 PMID:8060346 PMID:8095070 PMID:8240356 PMID:8250532 PMID:8395787 PMID:8680405 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9742104 PMID:9883875 PMID:10577941 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16152638 PMID:16849371 PMID:17452590 PMID:17659260 PMID:19667215 PMID:19875463 PMID:20301595 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G
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Mt-co2
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mitochondrially encoded cytochrome c oxidase II
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ISO
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ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
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ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16849371 PMID:17452590 PMID:19667215 PMID:19875463 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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G
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Mt-co3
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mitochondrially encoded cytochrome c oxidase III
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
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CTD ClinVar |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7573056 PMID:7804416 PMID:8037217 PMID:8042671 PMID:8095070 PMID:8240356 PMID:8250532 PMID:8395787 PMID:8739943 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:12915481 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:28027978 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:39825153 More...
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G
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Mt-cyb
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mitochondrially encoded cytochrome b
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
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CTD ClinVar |
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:11464242 PMID:11601507 PMID:20301353 PMID:23418307 PMID:25741868 PMID:30143805 PMID:32906214 More...
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NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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ISO
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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)
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ClinVar CTD RGD |
PMID:1417830 PMID:1436530 PMID:1442494 PMID:1539598 PMID:1550128 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8496715 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11371515 PMID:11479733 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:12112111 PMID:14998933 PMID:15342361 PMID:15466014 PMID:15505787 PMID:15720387 PMID:15883259 PMID:15972314 PMID:16738010 PMID:16849371 PMID:16969869 PMID:17452590 PMID:17562939 PMID:17620555 PMID:18216301 PMID:19497304 PMID:19555656 PMID:19667215 PMID:19875463 PMID:20301353 PMID:21364701 PMID:22079202 PMID:22879922 PMID:24088041 PMID:24569607 PMID:24830958 PMID:24884847 PMID:25194554 PMID:25741868 PMID:26633545 PMID:27449621 PMID:27450679 PMID:29602698 PMID:29991444 PMID:30143805 PMID:32313153 PMID:32906214 PMID:35383288 PMID:39825153 PMID:11479733 PMID:12112111 PMID:22577081 PMID:2018041 PMID:19324017 PMID:20454697 More...
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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
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G
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Mt-nd2
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
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ISO
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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
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ClinVar CTD RGD |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1900003 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11479733 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:15466014 PMID:15972314 PMID:16849371 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:21364701 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:39825153 PMID:20454697 More...
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RGD:5508187 |
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
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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
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ClinVar RGD |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:12227465 PMID:14998933 PMID:17152068 PMID:17413873 PMID:17452590 PMID:19458970 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:39825153 PMID:19458970 More...
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RGD:5508703 |
NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G
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Mt-nd4
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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ISO
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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)
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ClinVar CTD RGD |
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1436530 PMID:1469456 PMID:1539598 PMID:1550128 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2137962 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:7763260 PMID:8042671 PMID:8095070 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8250532 PMID:8395787 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:8644732 PMID:9150158 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11169561 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:12402249 PMID:12560876 PMID:12707444 PMID:14998933 PMID:15342361 PMID:16120329 PMID:16431939 PMID:16477364 PMID:16532388 PMID:17452590 PMID:18771762 PMID:19026397 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:24569607 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:39825153 PMID:3201231 PMID:20454697 PMID:18771762 PMID:19022198 PMID:12436196 PMID:16364244 More...
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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
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G
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Mt-nd4l
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
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ISO
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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)
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ClinVar CTD RGD |
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8680405 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11935318 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:39825153 PMID:19394449 PMID:11935318 More...
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RGD:5686339, RGD:5686341 |
NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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G
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Mt-nd5
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
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ISO
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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
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ClinVar CTD RGD |
PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1764087 PMID:1900003 PMID:2137962 PMID:7654063 PMID:8016139 PMID:8042671 PMID:8095070 PMID:8213825 PMID:8250532 PMID:8395787 PMID:8622678 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10894222 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11938446 PMID:12509858 PMID:12736867 PMID:14735585 PMID:14998933 PMID:15767514 PMID:16240359 PMID:16380132 PMID:16816025 PMID:17317336 PMID:17400793 PMID:17452590 PMID:17535832 PMID:18332249 PMID:18977334 PMID:19667215 PMID:19875463 PMID:20018511 PMID:20301353 PMID:21131053 PMID:22022272 PMID:22249460 PMID:22577219 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27164671 PMID:27450679 PMID:29602698 PMID:30143805 PMID:31669237 PMID:32313153 PMID:32906214 PMID:39825153 PMID:16240359 PMID:1732158 PMID:16816025 PMID:19022198 PMID:21131053 More...
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RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172 |
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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G
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Mt-nd6
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
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ISO ISS
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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)
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MouseDO ClinVar CTD RGD |
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8644732 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11133798 PMID:12112086 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14520668 PMID:14595656 PMID:14735585 PMID:15342361 PMID:15922297 PMID:15954041 PMID:16337195 PMID:16380132 PMID:18674747 PMID:20301353 PMID:24569607 PMID:25741868 PMID:29987491 PMID:30143805 PMID:31669237 PMID:32906214 PMID:35715829 PMID:23665487 PMID:23129651 PMID:24398099 PMID:19732751 More...
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RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123 |
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G
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Ndufs2
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NADH:ubiquinone oxidoreductase core subunit S2
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ISO
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ClinVar Annotator: match by term: Leber optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420
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G
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Parl
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presenilin associated, rhomboid-like
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no_association
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ISO
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DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)
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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
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G
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Prickle3
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prickle planar cell polarity protein 3
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ISO
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ClinVar Annotator: match by term: Leber optic atrophy CTD Direct Evidence: marker/mechanism
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ClinVar CTD |
PMID:32516135 |
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NCBI chr X:17,509,551...17,520,157
Ensembl chr X:14,837,650...14,848,218
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G
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Rdh12
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retinol dehydrogenase 12
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ISO
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RGD |
PMID:15322982 |
RGD:1599415 |
NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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G
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Rp1
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RP1, axonemal microtubule associated
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ISO
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ClinVar Annotator: match by term: Leber optic atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
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G
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Rpe65
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retinoid isomerohydrolase RPE65
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16828753 PMID:17011878 |
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NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403
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G
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Rpgrip1
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RPGR interacting protein 1
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ISO
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RGD |
PMID:11283794 |
RGD:1599580 |
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G
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Sod2
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superoxide dismutase 2
|
treatment
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ISO
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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
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G
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Tp53
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tumor protein p53
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onset
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ISO
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DNA:polymorphism:cds:p.R72P(human)
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RGD |
PMID:15838728 |
RGD:5688732 |
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
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ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies
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ClinVar |
PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 PMID:39825153 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G
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Ndufs2
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NADH:ubiquinone oxidoreductase core subunit S2
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ISO
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ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 | ClinVar Annotator: match by term: NDUFS2-related condition
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20818383 PMID:22200994 PMID:25741868 PMID:28031252 PMID:28050010 PMID:28492532 More...
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NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420
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G
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Dnajc30
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DnaJ heat shock protein family (Hsp40) member C30
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ISO
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ClinVar Annotator: match by term: LHON, MODIFIER OF
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ClinVar |
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:36388184 PMID:37579815 More...
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NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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G
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Mt-nd4
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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ISO
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ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to
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ClinVar |
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:7763260 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:9150158 PMID:10976107 PMID:11169561 PMID:11854175 PMID:12402249 PMID:12560876 PMID:16431939 PMID:16477364 PMID:16532388 PMID:18771762 PMID:19026397 PMID:20301353 PMID:25741868 PMID:30143805 More...
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G
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Prickle3
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prickle planar cell polarity protein 3
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ISO
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|
OMIM |
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NCBI chr X:17,509,551...17,520,157
Ensembl chr X:14,837,650...14,848,218
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G
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Ndufaf5
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NADH:ubiquinone oxidoreductase complex assembly factor 5
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ISO
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ClinVar Annotator: match by term: Leber plus disease
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ClinVar |
PMID:25741868 |
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NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
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G
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Prickle3
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prickle planar cell polarity protein 3
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ISS
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MouseDO |
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NCBI chr X:17,509,551...17,520,157
Ensembl chr X:14,837,650...14,848,218
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G
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Pip5k1c
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phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
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ISO
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ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3 | ClinVar Annotator: match by term: PIP5K1C-related condition CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:17701898 PMID:25741868 PMID:28492532 PMID:37451268 PMID:38491417 |
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NCBI chr 7:9,048,135...9,076,751
Ensembl chr 7:8,397,406...8,425,988
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G
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Milr1
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mast cell immunoglobulin-like receptor 1
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ISO
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ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
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ClinVar |
PMID:25741868 PMID:28492532 PMID:31778857 |
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G
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Polg2
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DNA polymerase gamma 2, accessory subunit
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ISO
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ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31778857 |
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G
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Ano5
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anoctamin 5
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ISO
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ClinVar Annotator: match by term: Miyoshi myopathy
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ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:25891276 PMID:26467025 PMID:28492532 PMID:32367299 PMID:37688281 More...
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NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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G
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Dysf
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dysferlin
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ISO
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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
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CTD ClinVar |
PMID:12796534 PMID:14678801 PMID:15469449 PMID:15535137 PMID:17512949 PMID:17868276 PMID:17897828 PMID:18832576 PMID:18853459 PMID:19493611 PMID:21522182 PMID:22046204 PMID:22297152 PMID:24033266 PMID:24109560 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25214167 PMID:25525159 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27365461 PMID:27666772 PMID:28492532 PMID:30107846 PMID:30564623 PMID:32504279 PMID:32528171 PMID:33927379 PMID:34426522 PMID:34906502 PMID:35273475 PMID:36672942 More...
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G
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Dysf
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dysferlin
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ISO
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ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1
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OMIM ClinVar |
PMID:2606004 PMID:2764718 PMID:2766772 PMID:8808603 PMID:9536098 PMID:9731526 PMID:10196377 PMID:10766988 PMID:10825360 PMID:11053681 PMID:11198284 PMID:11257469 PMID:11468312 PMID:11532985 PMID:12410383 PMID:12796534 PMID:14673575 PMID:14678801 PMID:15293763 PMID:15469449 PMID:15515206 PMID:15827562 PMID:15835269 PMID:16010686 PMID:16087766 PMID:16100712 PMID:16199547 PMID:16705711 PMID:16891820 PMID:16934466 PMID:16996541 PMID:17070050 PMID:17287450 PMID:17331981 PMID:17512949 PMID:17562833 PMID:17576681 PMID:17698709 PMID:17825554 PMID:17828519 PMID:17897828 PMID:17932988 PMID:17994539 PMID:18276788 PMID:18294055 PMID:18306167 PMID:18396043 PMID:18808059 PMID:18832576 PMID:18853459 PMID:19015158 PMID:19084402 PMID:19154541 PMID:19309282 PMID:19493611 PMID:19528035 PMID:19953532 PMID:20301480 PMID:20497525 PMID:20535123 PMID:20544924 PMID:20558759 PMID:20623375 PMID:20817457 PMID:21173544 PMID:21392994 PMID:21484829 PMID:21520333 PMID:21522182 PMID:21816046 PMID:22046204 PMID:22057634 PMID:22174839 PMID:22194990 PMID:22246893 PMID:22297152 PMID:22318734 PMID:22616201 PMID:22849992 PMID:22910291 PMID:22995991 PMID:23185377 PMID:23243261 PMID:23254335 PMID:23406536 PMID:23488891 PMID:23519732 PMID:23530687 PMID:23641709 PMID:23757202 PMID:24033266 PMID:24109560 PMID:24123366 PMID:24239059 PMID:24438169 PMID:24488599 PMID:24838345 PMID:25046369 PMID:25133958 PMID:25135358 PMID:25143362 PMID:25312915 PMID:25326637 PMID:25373139 PMID:25493284 PMID:25525159 PMID:25574751 PMID:25591676 PMID:25591678 PMID:25741868 PMID:25783436 PMID:25807536 PMID:25821721 PMID:25868377 PMID:25898921 PMID:25900324 PMID:25987458 PMID:26000923 PMID:26060040 PMID:26077327 PMID:26088049 PMID:26273692 PMID:26290895 PMID:26404900 PMID:26436962 PMID:26444858 PMID:26467025 PMID:26579332 PMID:26671124 PMID:26806107 PMID:26916285 PMID:27066573 PMID:27104310 PMID:27195159 PMID:27229680 PMID:27290639 PMID:27347015 PMID:27363342 PMID:27365461 PMID:27447704 PMID:27602406 PMID:27641898 PMID:27647186 PMID:27666772 PMID:27821570 PMID:27854218 PMID:27858744 PMID:27884173 PMID:28104817 PMID:28403181 PMID:28492532 PMID:28600779 PMID:28904466 PMID:29138090 PMID:29382405 PMID:29797799 PMID:29970176 PMID:29997562 PMID:30028523 PMID:30107846 PMID:30292141 PMID:30366248 PMID:30564623 PMID:30919934 PMID:31019989 PMID:31066050 PMID:31268554 PMID:31407473 PMID:31475473 PMID:31589614 PMID:31862442 PMID:31931849 PMID:32140910 PMID:32400077 PMID:32504279 PMID:32528171 PMID:32576226 PMID:32751317 PMID:32860008 PMID:32906206 PMID:32934002 PMID:33144682 PMID:33215690 PMID:33250842 PMID:33348118 PMID:33610434 PMID:33613410 PMID:33715265 PMID:33751525 PMID:33927379 PMID:34281941 PMID:34440373 PMID:34559919 PMID:34624274 PMID:35028538 PMID:35047756 PMID:35135626 PMID:35273475 PMID:36319958 PMID:36580222 PMID:36672942 PMID:36983702 PMID:37366078 PMID:37688281 PMID:37926714 PMID:39825153 More...
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NCBI chr 4:116,490,877...116,690,709
Ensembl chr 4:116,490,616...116,690,709
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G
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Ano5
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anoctamin 5
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ISO
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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)
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OMIM ClinVar CTD RGD |
PMID:9673985 PMID:17008331 PMID:17132147 PMID:18414213 PMID:20096397 PMID:20692837 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23193613 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24803842 PMID:24843231 PMID:25046369 PMID:25135358 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26467025 PMID:26809617 PMID:26810512 PMID:26838040 PMID:26886200 PMID:27671536 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27911336 PMID:28176803 PMID:28187523 PMID:28489263 PMID:28492532 PMID:28888072 PMID:29382405 PMID:29431110 PMID:30564623 PMID:30919934 PMID:31341644 PMID:31350120 PMID:31353849 PMID:31395899 PMID:31475473 PMID:31561939 PMID:31589614 PMID:31931849 PMID:32112655 PMID:32367299 PMID:32403337 PMID:32528171 PMID:32646536 PMID:32925086 PMID:33496727 PMID:33963534 PMID:34008892 PMID:34106991 PMID:36157496 PMID:36292621 PMID:36913258 PMID:20096397 More...
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RGD:11570558 |
NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
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G
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Lama4
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laminin subunit alpha 4
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ISO
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ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3
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ClinVar |
PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
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G
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Tnni3
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troponin I3, cardiac type
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ISO
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ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3
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ClinVar |
PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:20641121 PMID:21310275 PMID:21533915 PMID:23283745 PMID:23610579 PMID:24111713 PMID:25132132 PMID:25326637 PMID:25741868 PMID:27532257 PMID:28193612 PMID:28492532 PMID:29255176 PMID:31513939 PMID:31737537 PMID:32492895 PMID:32686758 PMID:33407484 PMID:33673806 PMID:34137518 More...
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NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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G
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Fdx2
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ferredoxin 2
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ISO
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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
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OMIM ClinVar |
PMID:24281368 PMID:25741868 PMID:28492532 |
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NCBI chr 8:27,881,091...27,886,230
Ensembl chr 8:19,604,916...19,609,849
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G
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Mt-nd3
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
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ISO
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ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
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ClinVar |
PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868 PMID:39825153 |
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NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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G
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Fdxr
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ferredoxin reductase
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ISO
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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
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OMIM ClinVar |
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 PMID:29040572 PMID:30250212 PMID:33348459 PMID:37046037 More...
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NCBI chr10:101,006,845...101,015,582
Ensembl chr10:100,507,865...100,516,658
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G
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Grin2c
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glutamate ionotropic receptor NMDA type subunit 2C
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ISO
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ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A
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ClinVar |
PMID:25741868 |
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NCBI chr10:100,987,410...101,006,064
Ensembl chr10:100,488,431...100,506,427
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G
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Akt1
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AKT serine/threonine kinase 1
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:18467435 |
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NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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G
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Ampd1
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adenosine monophosphate deaminase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:10996775 |
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NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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G
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Apaf1
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apoptotic peptidase activating factor 1
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IEP
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mRNA:decreased expression:skeletal muscle tissue
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RGD |
PMID:17029665 |
RGD:2325745 |
NCBI chr 7:27,381,392...27,466,772
Ensembl chr 7:25,494,609...25,579,540
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G
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Bub1b
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BUB1 mitotic checkpoint serine/threonine kinase B
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ISO
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RGD |
PMID:23792145 |
RGD:10059412 |
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547
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G
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Cacna1s
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calcium voltage-gated channel subunit alpha1 S
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ISO
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ClinVar Annotator: match by term: Muscular atrophy
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ClinVar |
PMID:25741868 PMID:31227654 |
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NCBI chr13:50,045,668...50,115,903
Ensembl chr13:47,493,949...47,564,318
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G
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Cast
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calpastatin
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IEP
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protein:increased expression:gastrocnemius (rat)
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RGD |
PMID:28800153 |
RGD:405100967 |
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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G
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Ccng1
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cyclin G1
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IEP
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associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
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RGD |
PMID:14638460 |
RGD:151361116 |
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
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G
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Cfl1
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cofilin 1
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IEP
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protein:decreased phosphorylation:gastrocnemius (rat)
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RGD |
PMID:24711688 |
RGD:11570530 |
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
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G
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Chuk
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component of inhibitor of nuclear factor kappa B kinase complex
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treatment
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IMP
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RGD |
PMID:18827022 |
RGD:7495773 |
NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:242,959,760...242,995,065
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G
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Cited2
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Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:19032942 |
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NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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G
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Col1a2
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collagen type I alpha 2 chain
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IEP
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RGD |
PMID:17916675 |
RGD:7257536 |
NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
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G
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Col6a3
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collagen type VI alpha 3 chain
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ISO
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ClinVar Annotator: match by term: Muscular atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471
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G
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Crhr2
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corticotropin releasing hormone receptor 2
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IDA
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RGD |
PMID:21235761 |
RGD:5130936 |
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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G
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Ctnnb1
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catenin beta 1
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:18467435 |
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NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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G
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Ctsl
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cathepsin L
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IEP
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mRNA:increased expression:soleus (rat)
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RGD |
PMID:16928772 |
RGD:2315576 |
NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
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G
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Dag1
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dystroglycan 1
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IEP
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protein:decreased expression:gastrocnemius
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RGD |
PMID:12107060 |
RGD:625642 |
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325
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G
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Dmd
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dystrophin
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IEP
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RGD |
PMID:12107060 |
RGD:625642 |
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G
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Endog
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endonuclease G
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IEP
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RGD |
PMID:15650125 |
RGD:9685359 |
NCBI chr 3:13,449,113...13,451,715
Ensembl chr 3:13,449,086...13,451,932
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G
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Fabp4
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fatty acid binding protein 4
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IEP
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associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
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RGD |
PMID:14638460 |
RGD:151361116 |
NCBI chr 2:93,488,251...93,492,961
Ensembl chr 2:91,580,885...91,585,578
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G
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Fbxo32
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F-box protein 32
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IDA ISO
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CTD Direct Evidence: marker/mechanism
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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
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G
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Fst
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follistatin
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:33034787 |
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NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:46,123,439...46,130,571
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G
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Gh1
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growth hormone 1
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:8937196 |
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NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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G
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Ghr
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growth hormone receptor
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IEP
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mRNA:increased expression:soleus associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
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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
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G
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Gsk3b
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glycogen synthase kinase 3 beta
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:18467435 |
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NCBI chr11:76,004,502...76,154,665
Ensembl chr11:62,504,316...62,648,646
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G
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Hsf1
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heat shock transcription factor 1
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treatment
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IDA
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RGD |
PMID:21983076 |
RGD:10402941 |
NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:108,196,056...108,223,011
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G
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Hsp90ab1
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heat shock protein 90 alpha family class B member 1
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IEP
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mRNA:decreased expression:soleus muscle (rat)
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RGD |
PMID:21639837 |
RGD:5686383 |
NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:15,433,691...15,438,488
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G
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Igf1
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insulin-like growth factor 1
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:18467435 |
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NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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G
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Ikbkb
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inhibitor of nuclear factor kappa B kinase subunit beta
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treatment
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IMP
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RGD |
PMID:18827022 |
RGD:7495773 |
NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250
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G
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Kcnh2
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potassium voltage-gated channel subfamily H member 2
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:16723379 |
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NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008
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G
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Kif16b
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kinesin family member 16B
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ISO
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ClinVar Annotator: match by term: Muscular atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
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G
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Kras
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KRAS proto-oncogene, GTPase
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IEP
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associated with microgravity; mRNA:increased expression:gastrocnemius (rat)
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RGD |
PMID:14638460 |
RGD:151361116 |
NCBI chr 4:179,916,255...179,949,613
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G
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Mstn
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myostatin
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IEP
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associated with Addison's Disease mRNA, protein:altered expression:skeletal muscle
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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
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G
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Mt1
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metallothionein 1
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:24163136 |
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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
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G
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Mtmr4
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myotubularin related protein 4
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IEP
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protein:decreased expression:gastrocnemius
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RGD |
PMID:19125695 |
RGD:7242174 |
NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
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G
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Mtor
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mechanistic target of rapamycin kinase
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treatment
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IMP
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RGD |
PMID:19260063 |
RGD:10041027 |
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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G
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Nedd4
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NEDD4 E3 ubiquitin protein ligase
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IEP
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protein:increased expression:gastrocnemius
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RGD |
PMID:19125695 |
RGD:7242174 |
NCBI chr 8:73,384,095...73,468,951
Ensembl chr 8:73,383,695...73,468,951
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G
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Nr3c1
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nuclear receptor subfamily 3, group C, member 1
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IEP
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protein:altered expression:nucleus
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RGD |
PMID:17622304 |
RGD:4892297 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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G
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Prkar1a
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protein kinase cAMP-dependent type I regulatory subunit alpha
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:29367455 |
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NCBI chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041
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G
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Relb
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RELB proto-oncogene, NF-kB subunit
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IDA
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protein:decreased localization:soleus, nucleus
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RGD |
PMID:11919155 |
RGD:7777164 |
NCBI chr 1:88,385,717...88,413,380
Ensembl chr 1:79,257,725...79,285,507
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G
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Rps6kb1
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ribosomal protein S6 kinase B1
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IEP
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protein:decreased expression, decreased phosphorylation:soleus
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RGD |
PMID:17885021 |
RGD:1642984 |
NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908
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G
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Serpine1
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serpin family E member 1
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IEP
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mRNA:increased expression:muscle
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RGD |
PMID:19574431 |
RGD:4144861 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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G
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Sgca
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sarcoglycan, alpha
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IEP
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protein:decreased expression:gastrocnemius
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RGD |
PMID:12107060 |
RGD:625642 |
NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813
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G
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Sod1
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superoxide dismutase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:24163136 PMID:29374221 |
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NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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G
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Tfrc
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transferrin receptor
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IEP
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mRNA:decreased expression:gastrocnemius
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RGD |
PMID:18395385 |
RGD:2292027 |
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G
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Tgif1
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TGFB-induced factor homeobox 1
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IEP
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associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat)
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RGD |
PMID:14718385 |
RGD:1641826 |
NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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G
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Timm23
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translocase of inner mitochondrial membrane 23
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IEP
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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
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G
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Tnf
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tumor necrosis factor
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:24534773 |
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NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G
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Tomm20
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translocase of outer mitochondrial membrane 20
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IEP
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RGD |
PMID:20943961 |
RGD:13463487 |
NCBI chr19:71,822,429...71,832,420
Ensembl chr19:54,923,402...54,935,198
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G
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Trim63
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tripartite motif containing 63
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IEP ISO
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mRNA:increased expression:gastrocnemius CTD Direct Evidence: marker/mechanism
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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
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G
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Ttpa
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alpha tocopherol transfer protein
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:10896705 |
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NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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G
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Ucp2
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uncoupling protein 2
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ISO
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mRNA:altered expression:quadriceps muscle (mouse)
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RGD |
PMID:19462004 |
RGD:10045654 |
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:154,839,209...154,845,611
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G
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Ucp3
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uncoupling protein 3
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ISO
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mRNA:altered expression:quadriceps muscle (mouse)
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RGD |
PMID:19462004 |
RGD:10045654 |
NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:154,815,777...154,828,762
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G
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Wwtr1
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WW domain containing transcription regulator 1
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ISO
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CTD Direct Evidence: therapeutic
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CTD |
PMID:24550007 |
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NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
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G
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Sdha
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succinate dehydrogenase complex flavoprotein subunit A
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ISO
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ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy
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OMIM ClinVar |
PMID:1492653 PMID:7550341 PMID:8967754 PMID:10746566 PMID:10976639 PMID:15989954 PMID:16195397 PMID:16199547 PMID:20484225 PMID:20489732 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22677546 PMID:22955521 PMID:22974104 PMID:23109135 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24033266 PMID:24781757 PMID:25394176 PMID:25488574 PMID:25494863 PMID:25525159 PMID:25595276 PMID:25720320 PMID:25741868 PMID:25787132 PMID:26113600 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26556299 PMID:26689913 PMID:26722403 PMID:27011036 PMID:27683039 PMID:27683074 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28552549 PMID:28724664 PMID:28798025 PMID:28819017 PMID:29177515 PMID:29488078 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30050099 PMID:30068732 PMID:30775854 PMID:30854332 PMID:30877234 PMID:31263571 PMID:31368675 PMID:31413764 PMID:31589614 PMID:31827275 PMID:31981491 PMID:32570879 PMID:32581362 PMID:32782288 PMID:32971818 PMID:33077847 PMID:33162331 PMID:33372952 PMID:33397043 PMID:33674644 PMID:33726816 PMID:33854214 PMID:33960148 PMID:34286374 PMID:34363016 PMID:34750850 PMID:35014173 PMID:35059314 PMID:35171114 PMID:35372080 PMID:35441217 PMID:35546442 PMID:35598585 PMID:35988656 PMID:36010880 PMID:36593350 PMID:38473309 PMID:39113632 More...
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NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
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G
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Borcs8
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BLOC-1 related complex subunit 8
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ISO
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ClinVar Annotator: match by term: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
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OMIM ClinVar |
PMID:38128568 |
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NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339
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G
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Snf8
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SNF8 subunit of ESCRT-II
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder plus optic atrophy
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ClinVar OMIM |
PMID:38423010 |
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NCBI chr10:80,984,337...80,996,724
Ensembl chr10:80,984,363...80,996,734
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G
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Ttc5
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tetratricopeptide repeat domain 5
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
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OMIM ClinVar |
PMID:25741868 PMID:29302074 PMID:32439809 |
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NCBI chr15:26,466,613...26,484,269
Ensembl chr15:23,993,048...24,010,668
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G
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Atp6v0a1
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ATPase H+ transporting V0 subunit a1
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy
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OMIM ClinVar |
PMID:15742102 PMID:25741868 PMID:33833240 PMID:34909687 |
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NCBI chr10:86,436,089...86,490,185
Ensembl chr10:85,935,854...85,989,895
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G
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Exoc8
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exocyst complex component 8
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:32103185 |
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NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
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G
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Exoc7
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exocyst complex component 7
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ISO
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ClinVar Annotator: match by term: EXOC7-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and brain atrophy
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OMIM ClinVar |
PMID:25741868 PMID:32103185 |
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NCBI chr10:102,019,805...102,039,333
Ensembl chr10:101,520,927...101,540,561
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G
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Taf8
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TATA-box binding protein associated factor 8
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
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ClinVar OMIM |
PMID:25741868 PMID:29648665 PMID:35759269 |
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NCBI chr 9:13,491,892...13,511,713
Ensembl chr 9:13,491,937...13,511,717
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G
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Dnajc30
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DnaJ heat shock protein family (Hsp40) member C30
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ISO
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ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 38
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OMIM ClinVar |
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:36388184 PMID:37579815 More...
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NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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G
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Abca4
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ATP binding cassette subfamily A member 4
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:9054934 PMID:9466990 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10413692 PMID:10458172 PMID:10711710 PMID:10746567 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11379881 PMID:11527935 PMID:11702214 PMID:12192456 PMID:12796258 PMID:14517951 PMID:15579991 PMID:16103129 PMID:16303926 PMID:17576681 PMID:18285826 PMID:18854780 PMID:19074458 PMID:19217903 PMID:19243736 PMID:22025579 PMID:22264887 PMID:22312191 PMID:22995991 PMID:23096905 PMID:23755871 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24097981 PMID:24265693 PMID:24509150 PMID:24743636 PMID:25066811 PMID:25087612 PMID:25283059 PMID:25346251 PMID:25444351 PMID:25712131 PMID:25741868 PMID:25910913 PMID:26593885 PMID:26720470 PMID:26780318 PMID:26872967 PMID:27939946 PMID:28041643 PMID:28044389 PMID:28118664 PMID:28224992 PMID:28341476 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29162642 PMID:29310964 PMID:29555955 PMID:29847635 PMID:29854428 PMID:29925512 PMID:30060493 PMID:30093795 PMID:30204727 PMID:30215852 PMID:30609409 PMID:30643219 PMID:30653986 PMID:30718709 PMID:31429209 PMID:31456290 PMID:31522899 PMID:31576780 PMID:31589614 PMID:31618761 PMID:31618812 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32037395 PMID:32141364 PMID:32278709 PMID:32307445 PMID:32467599 PMID:32531858 PMID:32581362 PMID:32619608 PMID:32783370 PMID:32815999 PMID:32845050 PMID:33258285 PMID:33261146 PMID:33301772 PMID:33302505 PMID:33369172 PMID:33375396 PMID:33546218 PMID:33691693 PMID:33706644 PMID:33749171 PMID:33851411 PMID:33909047 PMID:34008801 PMID:34073554 PMID:34313030 PMID:34315337 PMID:34327195 PMID:34426522 PMID:34647987 PMID:34758253 PMID:34946930 PMID:35076026 PMID:35119454 PMID:35260635 PMID:35456422 PMID:35836572 PMID:35886001 PMID:36209838 PMID:36460718 PMID:36471740 PMID:36672815 More...
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NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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G
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Abcc6
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ATP binding cassette subfamily C member 6
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:15723264 PMID:16835894 PMID:18157818 PMID:25741868 PMID:28492532 PMID:32873932 PMID:33820832 PMID:34906475 PMID:35261845 More...
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NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464
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G
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Abhd12
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abhydrolase domain containing 12, lysophospholipase
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564
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G
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Aco2
|
aconitase 2
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:2854533 PMID:25351951 PMID:25741868 PMID:28492532 PMID:30118607 PMID:32449285 PMID:34056600 PMID:34234304 PMID:34426522 More...
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NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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G
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Adgra3
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adhesion G protein-coupled receptor A3
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:60,874,719...60,976,341
Ensembl chr14:60,874,715...60,976,332
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G
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Adgrv1
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adhesion G protein-coupled receptor V1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30190612 |
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NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
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G
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Afg3l2
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AFG3 like matrix AAA peptidase subunit 2
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:26539208 PMID:29181157 PMID:32219868 |
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NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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G
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Ahi1
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Abelson helper integration site 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:18054307 PMID:21228398 PMID:22995991 PMID:25326637 PMID:25356976 PMID:25741868 PMID:26035799 PMID:26035800 PMID:28391287 PMID:28492532 PMID:28976722 PMID:31938409 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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G
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Alms1
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ALMS1, centrosome and basal body associated protein
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005
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G
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Ap5z1
|
adaptor related protein complex 5 subunit zeta 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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G
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Arhgef18
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Rho/Rac guanine nucleotide exchange factor 18
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081
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G
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Arl6
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ARF like GTPase 6
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:34828430 |
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G
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Bbs10
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Bardet-Biedl syndrome 10
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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G
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Bbs7
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Bardet-Biedl syndrome 7
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:119,434,760...119,474,396
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G
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Bbs9
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Bardet-Biedl syndrome 9
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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G
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C1qtnf5
|
C1q and TNF related 5
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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
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G
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C20h10orf105
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similar to human chromosome 10 open reading frame 105
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:25741868 |
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NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
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G
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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
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G
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Cacna1f
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calcium voltage-gated channel subunit alpha1 F
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:9662399 PMID:11281458 PMID:12111638 PMID:17525176 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30576320 PMID:30825406 PMID:31456290 PMID:33668843 PMID:33749171 PMID:35457050 PMID:36284460 PMID:36909829 More...
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NCBI chr X:17,539,992...17,568,308
Ensembl chr X:14,868,024...14,896,413
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G
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Cacna2d4
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calcium voltage-gated channel auxiliary subunit alpha2delta 4
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|
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
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G
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Cc2d2a
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coiled-coil and C2 domain containing 2A
|
|
ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G
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Cdh23
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cadherin-related 23
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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G
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Cdhr1
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cadherin-related family member 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:9536098 PMID:17576681 PMID:23591405 PMID:24033266 PMID:25741868 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29555955 PMID:30718709 PMID:31387115 PMID:32037395 PMID:32531858 PMID:32681094 PMID:33546218 PMID:34327195 PMID:34426522 PMID:34795310 PMID:34906470 PMID:35260635 PMID:35627310 PMID:35836572 PMID:36259723 PMID:36460718 PMID:37510321 PMID:37734845 PMID:38219857 More...
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NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396
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G
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Cep19
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centrosomal protein 19
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
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G
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Cep250
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centrosomal protein 250
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125
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G
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Cep290
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centrosomal protein 290
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G
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Cep78
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centrosomal protein 78
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:213,246,187...213,275,181
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G
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Cfh
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complement factor H
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31575699 PMID:36246952 More...
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NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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G
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Clrn1
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clarin 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:20717163 PMID:24033266 PMID:25741868 PMID:27460420 PMID:30311386 |
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NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
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G
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Cnga1
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cyclic nucleotide gated channel subunit alpha 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
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G
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Cnga3
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cyclic nucleotide gated channel subunit alpha 3
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:11536077 PMID:15743887 PMID:17693388 PMID:20238023 PMID:21911670 PMID:23082193 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30418171 PMID:30653986 PMID:30682209 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31964843 PMID:32531858 PMID:34449556 PMID:35119454 PMID:36833446 More...
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NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183
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G
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Cngb1
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cyclic nucleotide gated channel subunit beta 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
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G
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Cngb3
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cyclic nucleotide gated channel subunit beta 3
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:20079539 PMID:22975760 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28746191 PMID:28795510 PMID:28929832 PMID:29053603 PMID:29769798 PMID:30190494 PMID:30337596 PMID:30418171 PMID:30544257 PMID:30609409 PMID:30718709 PMID:31429209 PMID:31816670 PMID:31964843 PMID:31980526 PMID:32036094 PMID:32037395 PMID:32531858 PMID:32581362 PMID:32860008 PMID:33546218 PMID:33562422 PMID:33737949 PMID:33749171 PMID:33851411 PMID:34426522 PMID:34449556 PMID:34758253 PMID:35119454 PMID:35260635 PMID:35456422 PMID:36460718 PMID:36672815 PMID:36909829 More...
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NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
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G
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Col2a1
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collagen type II alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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G
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Col9a1
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collagen type IX alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213
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G
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Crb1
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crumbs cell polarity complex component 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:3012021 PMID:11389483 PMID:25741868 PMID:28492532 PMID:32531858 |
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NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
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G
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Cspp1
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centrosome and spindle pole associated protein 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:9,077,161...9,193,377
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G
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Cwc27
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CWC27 spliceosome associated cyclophilin
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872
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G
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Cyp4v3
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cytochrome P450, family 4, subfamily v, polypeptide 3
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
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G
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Cyria
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CYFIP related Rac1 interactor A
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:32581362 |
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NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668
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G
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Ddx1
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DEAD-box helicase 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:32581362 |
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NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365
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G
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Dnajc30
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DnaJ heat shock protein family (Hsp40) member C30
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:36388184 PMID:37579815 More...
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NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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G
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Dnm1l
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dynamin 1-like
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:17460227 |
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NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482
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G
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Dthd1
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death domain containing 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:46,670,438...46,673,183
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G
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Dync2h1
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dynein cytoplasmic 2 heavy chain 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:30755392 PMID:34740920 More...
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G
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Efemp1
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EGF containing fibulin extracellular matrix protein 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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G
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Elovl1
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ELOVL fatty acid elongase 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:131,961,478...131,965,961
Ensembl chr 5:131,961,322...131,965,958
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G
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Espn
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espin
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
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G
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Fbln5
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fibulin 5
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:2965322 PMID:19194475 PMID:21576112 PMID:25741868 PMID:28492532 PMID:28765615 PMID:29653220 PMID:32802946 More...
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NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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G
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Fdxr
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ferredoxin reductase
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr10:101,006,845...101,015,582
Ensembl chr10:100,507,865...100,516,658
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G
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Fzd4
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frizzled class receptor 4
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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G
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Gatad1
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GATA zinc finger domain containing 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
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G
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Gphn
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gephyrin
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:16269441 PMID:25741868 PMID:28492532 PMID:36460718 |
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NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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G
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Gpr179
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G protein-coupled receptor 179
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30487145 PMID:30609409 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32531858 PMID:32581362 PMID:36460718 More...
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NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
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G
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Grm6
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glutamate metabotropic receptor 6
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
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G
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Gucy2e
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guanylate cyclase 2E
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:10951519 PMID:11328726 PMID:12325031 PMID:25741868 PMID:28492532 PMID:29068140 PMID:29559409 PMID:31964843 PMID:33109612 More...
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G
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Idh3b
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isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:117,481,845...117,486,982
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G
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Ift140
|
intraflagellar transport 140
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G
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Ift172
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intraflagellar transport 172
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 PMID:35835773 |
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NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860
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G
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Ift27
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intraflagellar transport 27
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:109,738,622...109,754,416
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G
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Ift74
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intraflagellar transport 74
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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G
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Inpp5e
|
inositol polyphosphate-5-phosphatase E
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G
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Invs
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inversin
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350
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G
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Itm2b
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integral membrane protein 2B
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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G
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Kcnv2
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potassium voltage-gated channel modifier subfamily V member 2
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
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G
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Kiaa1549
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KIAA1549 homolog
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436
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G
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Kif11
|
kinesin family member 11
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:235,124,316...235,176,766
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G
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Kif3b
|
kinesin family member 3B
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:141,758,466...141,797,963
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G
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Lama1
|
laminin subunit alpha 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:115,139,548...115,263,620
Ensembl chr 9:107,692,770...107,817,478
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G
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Lca5
|
lebercilin LCA5
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
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G
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Lrit3
|
leucine-rich repeat, Ig-like and transmembrane domains 3
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ISO
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ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:32483926 |
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NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307
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G
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Mecr
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mitochondrial trans-2-enoyl-CoA reductase
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ISO
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ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:31137067 PMID:31160820 PMID:32313153 PMID:32445240 PMID:34052969 PMID:34988976 PMID:36262091 PMID:37653044 PMID:37734847 More...
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NCBI chr 5:149,313,765...149,339,964
Ensembl chr 5:144,029,731...144,055,863
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G
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Mertk
|
MER proto-oncogene, tyrosine kinase
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:22939401 PMID:25741868 PMID:28492532 |
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NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:115,939,351...116,046,554
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G
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Mfn2
|
mitofusin 2
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|
ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:16762064 PMID:19889647 PMID:20350294 PMID:21258814 PMID:21519004 PMID:22492563 PMID:24126688 PMID:24627108 PMID:24957169 PMID:25403865 PMID:25614874 PMID:25741868 PMID:26143526 PMID:26257172 PMID:26382835 PMID:26392352 PMID:26467025 PMID:26764160 PMID:27582484 PMID:27884173 PMID:28251916 PMID:28292286 PMID:28492532 PMID:29473246 PMID:31453851 PMID:32376792 PMID:32483926 PMID:33333791 PMID:33415332 PMID:33841295 PMID:34426522 PMID:35449525 PMID:36973604 PMID:37091313 PMID:37910431 PMID:37926714 PMID:39825153 More...
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NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
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G
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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
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G
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Mfsd8
|
major facilitator superfamily domain containing 8
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|
ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:25227500 PMID:25741868 PMID:26681805 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28586915 PMID:30215852 PMID:30382371 PMID:33546218 PMID:34426522 More...
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NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971
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G
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Mief1
|
mitochondrial elongation factor 1
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|
ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:111,786,709...111,802,220
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G
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Mks1
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MKS transition zone complex subunit 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:18327255 PMID:25741868 PMID:28289063 PMID:28492532 PMID:30793526 PMID:31456290 PMID:34426522 PMID:34573333 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G
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Mt-co1
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mitochondrially encoded cytochrome c oxidase I
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:28027978 |
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NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8496715 PMID:10976107 PMID:11854175 PMID:15342361 PMID:15720387 PMID:15883259 PMID:16738010 PMID:17620555 PMID:17637808 PMID:20301353 PMID:22079202 PMID:22241583 PMID:25741868 PMID:30143805 PMID:32906214 PMID:35383288 More...
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NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G
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Mt-nd4
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:7763260 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:9150158 PMID:10976107 PMID:11169561 PMID:11854175 PMID:12402249 PMID:12560876 PMID:16431939 PMID:16477364 PMID:16532388 PMID:18771762 PMID:19026397 PMID:20301353 PMID:25741868 PMID:30143805 More...
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NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G
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Mt-nd6
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:1463007 PMID:1634041 PMID:5511487 PMID:8470982 PMID:9012411 PMID:9849804 PMID:10072046 PMID:10631164 PMID:12736867 PMID:12827453 PMID:15954041 PMID:18674747 PMID:20301353 PMID:25741868 PMID:30143805 PMID:32906214 More...
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G
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Mtrfr
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mitochondrial translation release factor in rescue
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr12:37,922,532...37,936,219
Ensembl chr12:32,258,435...32,275,258
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G
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Mycn
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MYCN proto-oncogene, bHLH transcription factor
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:32581362 |
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NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590
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G
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Myo7a
|
myosin VIIA
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G
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Naaladl1
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N-acetylated alpha-linked acidic dipeptidase-like 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
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G
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Nbas
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NBAS subunit of NRZ tethering complex
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 PMID:35902954 |
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NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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G
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Ndufs2
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NADH:ubiquinone oxidoreductase core subunit S2
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr13:86,186,867...86,203,914
Ensembl chr13:83,654,406...83,671,420
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G
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Ndufs3
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NADH:ubiquinone oxidoreductase core subunit S3
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:14729820 |
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NCBI chr 3:97,332,477...97,339,654
Ensembl chr 3:76,876,646...76,883,824
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G
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Nmnat1
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nicotinamide nucleotide adenylyltransferase 1
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:22842229 |
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NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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G
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Nphp3
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nephrocystin 3
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:23188109 PMID:25741868 PMID:28492532 PMID:34426522 More...
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G
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Nphp4
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nephrocystin 4
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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
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G
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Nr2e3
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nuclear receptor subfamily 2, group E, member 3
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:17564971 PMID:19718767 PMID:19898638 PMID:25741868 PMID:28492532 |
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NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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G
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Nr2f1
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nuclear receptor subfamily 2, group F, member 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:23300014 PMID:24462372 PMID:25741868 PMID:26986877 PMID:32275123 PMID:34466801 More...
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NCBI chr 2:9,776,179...9,785,924
Ensembl chr 2:8,040,377...8,050,123
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G
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Oat
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ornithine aminotransferase
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
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G
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Opa1
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OPA1, mitochondrial dynamin like GTPase
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ISO ISS
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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
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ClinVar MouseDO RGD |
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:12161614 PMID:12488262 PMID:12566046 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:15948788 PMID:16158427 PMID:16199547 PMID:16240368 PMID:16323009 PMID:16331355 PMID:16513463 PMID:16698014 PMID:17251483 PMID:17306754 PMID:17576681 PMID:17722006 PMID:18065439 PMID:18158317 PMID:18222991 PMID:18496845 PMID:19029523 PMID:19112530 PMID:19181907 PMID:19303950 PMID:19319978 PMID:19900585 PMID:19969356 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21457585 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22433900 PMID:22857269 PMID:22865259 PMID:23250881 PMID:23384603 PMID:23388408 PMID:23401657 PMID:23916084 PMID:24798923 PMID:24883014 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25205859 PMID:25326637 PMID:25564500 PMID:25641387 PMID:25741868 PMID:25744979 PMID:25794858 PMID:25796301 PMID:26385429 PMID:26400325 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26867657 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27858935 PMID:27860320 PMID:27890673 PMID:28005958 PMID:28081242 PMID:28378518 PMID:28442211 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29111013 PMID:29350691 PMID:29652087 PMID:29952689 PMID:30165240 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31609081 PMID:31673222 PMID:31781369 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32420686 PMID:32581362 PMID:32855858 PMID:32883255 PMID:33084218 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:35936615 PMID:36071901 PMID:36284460 PMID:36460718 PMID:36661516 PMID:37091313 PMID:37196654 PMID:16735988 More...
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RGD:7800714 |
NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109
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G
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Opa3
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outer mitochondrial membrane lipid metabolism regulator OPA3
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|
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
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G
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Otx2
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orthodenticle homeobox 2
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr15:24,422,876...24,432,709
Ensembl chr15:21,943,191...21,953,416
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G
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Pank2
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pantothenate kinase 2
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|
ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
|
NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:118,483,444...118,518,320
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G
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Pax2
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paired box 2
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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G
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Pcare
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photoreceptor cilium actin regulator
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169
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G
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Pcdh15
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protocadherin related 15
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:24033266 PMID:25741868 PMID:27766948 PMID:28492532 |
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NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
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G
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Pde6c
|
phosphodiesterase 6C
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315
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G
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Pex1
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peroxisomal biogenesis factor 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16141001 PMID:17055079 PMID:20301621 PMID:20952722 PMID:21031596 PMID:23757202 PMID:25741868 PMID:26287655 PMID:26387595 PMID:26467025 PMID:26643206 PMID:28468868 PMID:28492532 PMID:31831025 More...
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NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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G
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Pex26
|
peroxisomal biogenesis factor 26
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|
ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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G
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Pgk1
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phosphoglycerate kinase 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr X:75,336,988...75,352,962
Ensembl chr X:71,271,440...71,287,418
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G
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Phyh
|
phytanoyl-CoA 2-hydroxylase
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25133751 PMID:25741868 PMID:27229527 PMID:28492532 PMID:32483926 |
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NCBI chr17:78,238,747...78,255,645
Ensembl chr17:73,329,082...73,346,409
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G
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Plk4
|
polo-like kinase 4
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|
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
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G
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Pnpla6
|
patatin-like phospholipase domain containing 6
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
|
NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
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G
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Poc5
|
POC5 centriolar protein
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ISO
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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
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G
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Polr3h
|
RNA polymerase III subunit H
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ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:2854533 PMID:25351951 PMID:25741868 PMID:28492532 PMID:34056600 |
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NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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G
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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
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|
G
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Prom1
|
prominin 1
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|
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
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G
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Pros1
|
protein S
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|
ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:1547381 PMID:2143091 PMID:2526663 PMID:7579448 PMID:8765219 PMID:10669162 PMID:10887114 PMID:12960605 PMID:15147381 PMID:15175796 PMID:16100035 PMID:18435454 PMID:18841302 PMID:20880255 PMID:21764424 PMID:22273984 PMID:24014240 PMID:24033266 PMID:24119292 PMID:24365770 PMID:25741868 PMID:27838551 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29883906 PMID:31019283 PMID:31064749 PMID:34355501 PMID:34533296 PMID:34729451 More...
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NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286
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G
|
Prph2
|
peripherin 2
|
|
ISO
|
ClinVar Annotator: match by term: Optic atrophy
|
ClinVar |
PMID:18161617 PMID:25741868 PMID:28492532 PMID:31213501 PMID:31618092 PMID:32531846 PMID:32717343 PMID:33546218 PMID:34411390 PMID:34426522 PMID:36819107 More...
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|
NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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|
G
|
Prss23
|
serine protease 23
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|
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
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|
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
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|
G
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Rb1
|
RB transcriptional corepressor 1
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|
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
|
|
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
|
|
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
|
|
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
|
|
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
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|
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
|
|
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
|
|
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
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|
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
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|
G
|
Rlbp1
|
retinaldehyde binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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G
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Rom1
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retinal outer segment membrane protein 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 PMID:28912962 PMID:30820151 PMID:34426522 PMID:35353811 More...
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NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175
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G
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Rp1
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RP1, axonemal microtubule associated
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:18791550 PMID:25741868 PMID:28492532 |
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NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
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G
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Rp1l1
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RP1 like 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:20826268 PMID:22466457 PMID:23281133 PMID:23619761 PMID:23745001 PMID:25741868 PMID:25908487 PMID:26782618 PMID:27579568 PMID:28195981 PMID:28492532 PMID:28890726 PMID:29555955 PMID:30025130 PMID:31028767 PMID:32176261 PMID:32531858 PMID:33749171 PMID:34440443 PMID:35464678 PMID:35765812 PMID:36284460 PMID:36460718 More...
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NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316
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G
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Rp9
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RP9, pre-mRNA splicing factor
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
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G
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Rpgr
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retinitis pigmentosa GTPase regulator
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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G
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Rpgrip1
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RPGR interacting protein 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:16123401 PMID:16339905 PMID:18055816 PMID:21224891 PMID:24265693 PMID:25741868 PMID:26626312 PMID:28492532 More...
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G
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Rpgrip1l
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Rpgrip1-like
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 PMID:32483926 PMID:33574475 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G
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Rpl24
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ribosomal protein L24
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ISS
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OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
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MouseDO |
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NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370
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G
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Rtn4ip1
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reticulon 4 interacting protein 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 PMID:32392611 PMID:32855858 PMID:33315831 PMID:33841295 More...
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NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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G
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Samd11
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sterile alpha motif domain containing 11
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:166,831,663...166,850,009
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G
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Scaper
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S-phase cyclin A-associated protein in the ER
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:55,933,306...56,332,122
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G
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Sclt1
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sodium channel and clathrin linker 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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G
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Sema4a
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semaphorin 4A
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:24265693 PMID:25741868 PMID:28492532 |
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NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442
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G
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Sema6b
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semaphorin 6B
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521
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G
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Slbp
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stem-loop histone mRNA binding protein
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:30695021 |
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NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
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G
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Slc25a46
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solute carrier family 25, member 46
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Optic atrophy
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CTD ClinVar |
PMID:25741868 PMID:26168012 PMID:28492532 |
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NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
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G
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Slc7a14
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solute carrier family 7, member 14
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 PMID:32036094 |
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NCBI chr 2:112,065,286...112,171,319
Ensembl chr 2:112,065,286...112,171,313
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G
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Snap25
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synaptosome associated protein 25
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:33299146 |
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NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:124,041,898...124,123,760
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G
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Spata7
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spermatogenesis associated 7
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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G
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Ssbp1
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single stranded DNA binding protein 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135
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G
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Tbcd
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tubulin folding cofactor D
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:27666370 |
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NCBI chr10:107,215,626...107,372,398
Ensembl chr10:106,717,367...106,874,122
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G
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Topors
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TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937
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G
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Trnt1
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tRNA nucleotidyl transferase 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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G
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Trpm1
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transient receptor potential cation channel, subfamily M, member 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
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G
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Tspan1
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tetraspanin 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017
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G
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Tspan12
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tetraspanin 12
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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G
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Ttll5
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tubulin tyrosine ligase like 5
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
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G
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Ttpa
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alpha tocopherol transfer protein
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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G
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Tubgcp4
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tubulin gamma complex component 4
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437
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G
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Tubgcp6
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tubulin gamma complex component 6
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011
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G
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Ush1c
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USH1 protein network component harmonin
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:12136232 PMID:16963483 PMID:24033266 PMID:24875298 PMID:25741868 PMID:28492532 PMID:29739340 PMID:30245029 PMID:34391192 PMID:34426522 More...
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NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
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G
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Ush1g
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USH1 protein network component sans
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:3442652 PMID:17896313 PMID:22135276 PMID:24033266 PMID:25741868 PMID:28224992 PMID:28492532 More...
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NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
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G
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Ush2a
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usherin
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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G
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Usp45
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ubiquitin specific peptidase 45
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 5:35,318,621...35,392,090
Ensembl chr 5:35,318,635...35,389,420
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G
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Wdpcp
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WD repeat containing planar cell polarity effector
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 PMID:32483926 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G
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Wdr19
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WD repeat domain 19
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G
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Wfs1
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wolframin ER transmembrane glycoprotein
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ISO
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DNA:missense mutation:cds:p.R456H (rs1801206) (human) ClinVar Annotator: match by term: Optic atrophy
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ClinVar RGD |
PMID:3095763 PMID:3126496 PMID:3442652 PMID:3478949 PMID:3620803 PMID:9536098 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11920861 PMID:12073007 PMID:12754709 PMID:12955714 PMID:15277431 PMID:15912360 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18060660 PMID:18688868 PMID:19344068 PMID:19877185 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21446023 PMID:21538838 PMID:21564155 PMID:21602428 PMID:22226368 PMID:22238590 PMID:23429432 PMID:23596069 PMID:23981289 PMID:24033266 PMID:24117146 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25133958 PMID:25211237 PMID:25250959 PMID:25262649 PMID:25741868 PMID:26025012 PMID:26435059 PMID:26467025 PMID:26773575 PMID:26875006 PMID:27045389 PMID:27395765 PMID:27657458 PMID:27959697 PMID:28432734 PMID:28492532 PMID:29207974 PMID:29447883 PMID:29529044 PMID:29549887 PMID:29563951 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30577886 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31343797 PMID:31391115 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32179840 PMID:32219690 PMID:32567228 PMID:32645618 PMID:33031055 PMID:33046911 PMID:33098801 PMID:33726816 PMID:33763535 PMID:33841295 PMID:33879153 PMID:34258273 PMID:34387732 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34573359 PMID:34758253 PMID:34789499 PMID:34970515 PMID:35018440 PMID:35469785 PMID:35472603 PMID:35810424 PMID:35872528 PMID:35982127 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36933359 PMID:36958120 PMID:37041640 PMID:37508961 PMID:37510321 PMID:39064493 PMID:23595122 More...
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RGD:8694404 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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Whrn
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whirlin
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:76,828,301...76,912,223
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G
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Zfp423
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zinc finger protein 423
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 PMID:30868567 |
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NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
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G
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Zfp513
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zinc finger protein 513
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439
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G
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Znf408
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zinc finger protein 408
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ISO
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ClinVar Annotator: match by term: Optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055
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G
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Opa1
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OPA1, mitochondrial dynamin like GTPase
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susceptibility
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ISO
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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
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OMIM ClinVar CTD RGD |
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11735024 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12566046 PMID:12842213 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:15948788 PMID:16158427 PMID:16199547 PMID:16240368 PMID:16331355 PMID:16513463 PMID:16617242 PMID:16785854 PMID:17167772 PMID:17188070 PMID:17251483 PMID:17306754 PMID:17576681 PMID:17722006 PMID:17724190 PMID:18065439 PMID:18158317 PMID:18222991 PMID:18360822 PMID:18496845 PMID:19029523 PMID:19319978 PMID:19581274 PMID:19900585 PMID:20157015 PMID:20185555 PMID:20301426 PMID:20417568 PMID:20417570 PMID:20484224 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21203403 PMID:21538838 PMID:21636302 PMID:21646330 PMID:21745197 PMID:21828197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:22865259 PMID:23250881 PMID:23384603 PMID:23387428 PMID:23401657 PMID:23409176 PMID:23916084 PMID:24086434 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25137924 PMID:25146915 PMID:25146916 PMID:25205859 PMID:25326637 PMID:25564500 PMID:25641387 PMID:25699009 PMID:25741868 PMID:25794858 PMID:25796301 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26624494 PMID:26867657 PMID:27290639 PMID:27656661 PMID:27696015 PMID:27858935 PMID:28005958 PMID:28081242 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29111013 PMID:29261183 PMID:29389947 PMID:30165240 PMID:30293569 PMID:30919572 PMID:30972688 PMID:31500643 PMID:31589614 PMID:31609081 PMID:31673222 PMID:31782039 PMID:31816670 PMID:32025183 PMID:32040484 PMID:32202296 PMID:32371413 PMID:32379273 PMID:32855858 PMID:33084218 PMID:33546218 PMID:33841295 PMID:33884488 PMID:34008892 PMID:34014035 PMID:34242285 PMID:34426522 PMID:34732400 PMID:35146926 PMID:35273349 PMID:35741767 PMID:35936615 PMID:36661516 PMID:37091313 PMID:37510321 PMID:17428816 PMID:17314202 PMID:23401657 PMID:20546606 PMID:16513463 PMID:19112530 PMID:17306754 PMID:16617242 More...
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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
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G
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Opa3
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outer mitochondrial membrane lipid metabolism regulator OPA3
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ISO
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ClinVar Annotator: match by term: Optic Atrophy, Dominant
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ClinVar |
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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
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G
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Wfs1
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wolframin ER transmembrane glycoprotein
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ISO
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DNA:missense mutations, deletion:multiple
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RGD |
PMID:21538838 |
RGD:7800683 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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Rtn4ip1
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reticulon 4 interacting protein 1
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ISO
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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
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OMIM ClinVar |
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 PMID:31077085 PMID:32392611 PMID:32855858 PMID:33315831 PMID:33841295 More...
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NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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G
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Yme1l1
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YME1-like 1 ATPase
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ISO
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ClinVar Annotator: match by term: Optic atrophy 11 | ClinVar Annotator: match by term: YME1L1-related condition
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OMIM ClinVar |
PMID:25741868 PMID:27495975 PMID:28492532 |
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NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
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G
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Afg3l2
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AFG3 like matrix AAA peptidase subunit 2
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ISO
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ClinVar Annotator: match by term: Optic atrophy 12
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OMIM ClinVar |
PMID:25741868 PMID:26467025 PMID:26539208 PMID:26633542 PMID:28449981 PMID:28454995 PMID:28492532 PMID:29181157 PMID:30910913 PMID:31327635 PMID:32219868 PMID:32548275 PMID:32600459 PMID:33841295 More...
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NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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G
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Tubb6
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tubulin, beta 6 class V
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ISO
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ClinVar Annotator: match by term: Optic atrophy 12
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ClinVar |
PMID:25741868 |
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NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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G
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Ssbp1
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single stranded DNA binding protein 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities
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OMIM ClinVar |
PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 PMID:36909829 |
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NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135
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G
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Mief1
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mitochondrial elongation factor 1
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ISO
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ClinVar Annotator: match by term: Optic atrophy 14
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OMIM ClinVar |
PMID:33632269 |
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NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:111,786,709...111,802,220
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G
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Mcat
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malonyl-CoA-acyl carrier protein transacylase
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ISO
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ClinVar Annotator: match by term: MCAT-related condition | ClinVar Annotator: match by term: Optic atrophy 15
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OMIM ClinVar |
PMID:25741868 PMID:33918393 |
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NCBI chr 7:116,573,632...116,585,767
Ensembl chr 7:114,693,612...114,704,542
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G
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Mecr
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mitochondrial trans-2-enoyl-CoA reductase
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ISO
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ClinVar Annotator: match by term: Optic atrophy 16
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OMIM ClinVar |
PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 PMID:37653044 PMID:37734847 More...
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NCBI chr 5:149,313,765...149,339,964
Ensembl chr 5:144,029,731...144,055,863
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G
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Wdr45
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WD repeat domain 45
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ISO
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ClinVar Annotator: match by term: Optic atrophy 2
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ClinVar |
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NCBI chr X:17,448,195...17,454,117
Ensembl chr X:14,776,293...14,782,202
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G
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Opa3
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outer mitochondrial membrane lipid metabolism regulator OPA3
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ISO
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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
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OMIM ClinVar CTD |
PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 PMID:28081242 PMID:28492532 PMID:31119193 PMID:31928268 PMID:32855858 PMID:32883240 More...
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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
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G
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Dnm1l
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dynamin 1-like
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ISO
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ClinVar Annotator: match by term: Optic atrophy 5 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:15635063 PMID:16199547 PMID:20696759 PMID:25741868 PMID:26604000 PMID:26825290 PMID:27145208 PMID:27328748 PMID:28492532 PMID:28969390 PMID:29110115 PMID:29529134 PMID:29877124 PMID:30850373 PMID:30939602 PMID:33644862 PMID:34356170 More...
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NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482
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G
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Yars2
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tyrosyl-tRNA synthetase 2
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ISO
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ClinVar Annotator: match by term: Optic atrophy 5
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ClinVar |
PMID:25741868 |
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NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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G
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Tmem126a
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transmembrane protein 126A
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ISO
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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
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OMIM CTD ClinVar |
PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 PMID:30369941 More...
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NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
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G
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Aco2
|
aconitase 2
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ISO
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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
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OMIM ClinVar |
PMID:3248392 PMID:16199547 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:27528516 PMID:28492532 PMID:30118607 PMID:30689204 PMID:32449285 PMID:32483926 PMID:32519519 PMID:34056600 PMID:34234304 PMID:34426522 PMID:36294366 PMID:37734845 More...
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NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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G
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Polr3h
|
RNA polymerase III subunit H
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ISO
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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
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ClinVar |
PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 PMID:32449285 PMID:34056600 More...
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NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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G
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Fdxr
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ferredoxin reductase
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ISO
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ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
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ClinVar |
PMID:25741868 PMID:30250212 PMID:37046037 |
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NCBI chr10:101,006,845...101,015,582
Ensembl chr10:100,507,865...100,516,658
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G
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Ccdc88a
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coiled coil domain containing 88A
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ISO
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ClinVar Annotator: match by term: PEHO syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368
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G
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Igf1
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insulin-like growth factor 1
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ISO
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protein:decreased expression:cerebrospinal fluid:
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RGD |
PMID:11701291 |
RGD:8548849 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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G
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Kif1a
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kinesin family member 1A
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ISO
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ClinVar Annotator: match by term: PEHO syndrome
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ClinVar |
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 PMID:26125038 PMID:26486474 PMID:27848944 PMID:28492532 PMID:31455732 PMID:31488895 PMID:31805580 PMID:32737135 PMID:33880452 More...
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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G
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Znhit3
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zinc finger, HIT-type containing 3
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome
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OMIM CTD ClinVar |
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 |
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NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475 Ensembl chr10:69,748,789...69,790,475
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G
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Zbtb20
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zinc finger and BTB domain containing 20
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ISO
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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
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CTD ClinVar OMIM |
PMID:6809950 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:27061120 PMID:28327206 PMID:28462983 PMID:28492532 PMID:29737001 PMID:30256248 PMID:30637921 PMID:31321892 PMID:32071410 PMID:32266967 PMID:38177409 More...
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NCBI chr11:57,052,129...57,791,214
Ensembl chr11:57,072,880...57,510,210
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G
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B3galnt2
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beta-1,3-N-acetylgalactosaminyltransferase 2
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ISO
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ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
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ClinVar |
PMID:25741868 |
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NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469
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G
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Tbce
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tubulin folding cofactor E
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ISO
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ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
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OMIM ClinVar |
PMID:12389028 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 PMID:39252126 More...
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NCBI chr17:55,983,627...56,031,578
Ensembl chr17:51,290,202...51,336,089
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G
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Als2cl
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ALS2 C-terminal like
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:110,863,753...110,884,434
Ensembl chr 8:110,864,975...110,884,419
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G
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Arih2
|
ariadne RBR E3 ubiquitin protein ligase 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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G
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Camp
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cathelicidin antimicrobial peptide
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:109,841,729...109,843,543
Ensembl chr 8:109,841,729...109,843,543
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G
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Ccdc12
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coiled-coil domain containing 12
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:110,635,276...110,686,417
Ensembl chr 8:110,635,710...110,686,417
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G
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Ccdc51
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coiled-coil domain containing 51
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472
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G
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Ccr1
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C-C motif chemokine receptor 1
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:123,556,286...123,561,841
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G
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Ccr2
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C-C motif chemokine receptor 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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G
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Ccr3
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C-C motif chemokine receptor 3
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G
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Ccr5
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C-C motif chemokine receptor 5
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G
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Ccr9
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C-C motif chemokine receptor 9
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:123,395,813...123,413,969
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G
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Ccrl2
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C-C motif chemokine receptor like 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:111,034,279...111,036,914
Ensembl chr 8:111,034,279...111,036,664
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G
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Cdc25a
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cell division cycle 25A
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701
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G
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Celsr3
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cadherin, EGF LAG seven-pass G-type receptor 3
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354
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G
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Col7a1
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collagen type VII alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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G
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Cripto
|
cripto, EGF-CFC family member
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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G
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Cspg5
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chondroitin sulfate proteoglycan 5
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:110,220,506...110,234,766
Ensembl chr 8:110,220,653...110,234,758
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G
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Cxcr6
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C-X-C motif chemokine receptor 6
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:123,434,417...123,439,568
Ensembl chr 8:123,416,325...123,439,526
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G
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Dalrd3
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DALR anticodon binding domain containing 3
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:109,265,676...109,268,568
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G
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Dhx30
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DExH-box helicase 30
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381
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G
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Elp6
|
elongator acetyltransferase complex subunit 6
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:110,280,059...110,295,070
Ensembl chr 8:110,279,979...110,295,067
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G
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Fbxw12
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F-box and WD repeat domain containing 12
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,782,315...109,802,086
Ensembl chr 8:109,786,815...109,801,813
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G
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Fyco1
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FYVE and coiled-coil domain autophagy adaptor 1
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
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NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
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G
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Impdh2
|
inosine monophosphate dehydrogenase 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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G
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Ip6k2
|
inositol hexakisphosphate kinase 2
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
|
NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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G
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Kif9
|
kinesin family member 9
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ISO
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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
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G
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Klhl18
|
kelch-like family member 18
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
|
NCBI chr 8:119,279,081...119,337,850
Ensembl chr 8:110,400,681...110,459,323
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G
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Lars2
|
leucyl-tRNA synthetase 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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G
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Limd1
|
LIM domain containing 1
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ISO
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ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
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ClinVar |
PMID:28492532 |
|
NCBI chr 8:123,121,363...123,168,476
Ensembl chr 8:123,122,460...123,167,714
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G
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Lrrc2
|
leucine rich repeat containing 2
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|
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
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G
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Ltf
|
lactotransferrin
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ISO
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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
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G
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Lztfl1
|
leucine zipper transcription factor-like 1
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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
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G
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Map4
|
microtubule-associated protein 4
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|
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
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G
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Mir191
|
microRNA 191
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|
ISO
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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
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G
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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
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G
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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
|
|
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
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|
G
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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
|
|
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
|
|
G
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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
|
|
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
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|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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 PMID:25471517 PMID:25741868 PMID:26467025 PMID:26869582 PMID:27572814 PMID:28492532 PMID:28620870 PMID:29875423 PMID:30755392 PMID:31618474 PMID:32042906 PMID:33057194 PMID:33256324 PMID:35982159 PMID:36474027 PMID:36672771 More...
|
|
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
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|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
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|
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
|
|
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
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|
|
G
|
Aifm1
|
apoptosis inducing factor, mitochondria associated 1
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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
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|
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
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|
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
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|
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
|
|
G
|
Bax
|
BCL2 associated X, apoptosis regulator
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|
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
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|
G
|
Bcl2
|
BCL2, apoptosis regulator
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|
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
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|
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
|
|
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
|
|
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
|
|
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
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|
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
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|
G
|
Eif2s1
|
eukaryotic translation initiation factor 2 subunit alpha
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|
IEP
|
|
RGD |
PMID:15187001 |
RGD:10395315 |
NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:97,672,766...97,706,225
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|
G
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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
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|
G
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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
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|
G
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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
|
|
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
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|
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
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|
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
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|
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
|
|
G
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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
|
|
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
|
|
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
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|
|
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
|
|
G
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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
|
|
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 PMID:21866095 PMID:21901789 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23847139 PMID:24033266 PMID:24625443 PMID:25525159 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30087219 PMID:30609409 PMID:33535056 More...
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|
NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093
|
|
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 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31345219 PMID:31523374 PMID:32483926 PMID:33193692 PMID:36090483 More...
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|
NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:114,960,650...115,016,234
|
|
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
|
|
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
|
|
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
|
|
G
|
Tmem218
|
transmembrane protein 218
|
|
ISS
|
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
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MouseDO |
|
|
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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|
G
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Ttc21b
|
tetratricopeptide repeat domain 21B
|
|
ISO
|
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
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ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G
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Wdr19
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WD repeat domain 19
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ISO
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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
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ClinVar RGD |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 PMID:33517396 PMID:34529350 PMID:36909829 PMID:23683095 More...
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RGD:11552600 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G
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Nphp1
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nephrocystin 1
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 1
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OMIM ClinVar |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31345219 PMID:31523374 PMID:32483926 PMID:33193692 PMID:36090483 More...
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NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:114,960,650...115,016,234
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G
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Nphp4
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nephrocystin 4
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 4 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16199547 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:21068128 PMID:21546380 PMID:21866095 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24154662 PMID:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27124789 PMID:27491411 PMID:28492532 PMID:28700940 PMID:29127258 PMID:30120289 PMID:30586318 PMID:31589614 PMID:31964843 PMID:32865313 PMID:34216551 PMID:34295353 PMID:34426522 PMID:36090483 PMID:36474027 PMID:36990420 PMID:37431782 More...
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NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706
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G
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Iqcb1
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IQ motif containing B1
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 5 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations:exon:multiple
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OMIM ClinVar CTD RGD |
PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 PMID:19430481 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:22183348 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24066033 PMID:24625443 PMID:24674142 PMID:25525159 PMID:25741868 PMID:25851290 PMID:26274329 PMID:26673778 PMID:26766544 PMID:27506978 PMID:27624628 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28832562 PMID:29053603 PMID:29068479 PMID:29219953 PMID:29453417 PMID:30087219 PMID:30609409 PMID:30718709 PMID:31429209 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32531858 PMID:32581362 PMID:32865313 PMID:33535056 PMID:33749171 PMID:36460718 PMID:36819107 PMID:15723066 More...
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RGD:11537383 |
NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093
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G
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Cep290
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centrosomal protein 290
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ISO
|
ClinVar Annotator: match by term: Senior-Loken syndrome 6 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:3442652 PMID:9536098 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17576681 PMID:18414213 PMID:19959640 PMID:20079931 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23188109 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25937446 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26673778 PMID:27353947 PMID:27375279 PMID:27491411 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28914264 PMID:29146704 PMID:29398085 PMID:29482223 PMID:29518907 PMID:29620724 PMID:29844330 PMID:29970488 PMID:30478281 PMID:30718709 PMID:30776697 PMID:31054281 PMID:31069529 PMID:31091803 PMID:31308072 PMID:31345219 PMID:31370859 PMID:31411728 PMID:31429209 PMID:31589614 PMID:31623504 PMID:31624253 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31879347 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32139166 PMID:32208788 PMID:32483926 PMID:32531858 PMID:32579692 PMID:32856788 PMID:32865313 PMID:33308271 PMID:33502066 PMID:33574314 PMID:33726816 PMID:33749171 PMID:33924653 PMID:33970760 PMID:34196201 PMID:34196655 PMID:34426522 PMID:34582790 PMID:34691137 PMID:34716235 PMID:34758253 PMID:34795310 PMID:34906470 PMID:36369640 PMID:36460718 PMID:36819107 PMID:37510321 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G
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Rlig1
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RNA 5'-phosphate and 3'-OH ligase 1
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ISO
|
ClinVar Annotator: match by term: Senior-Loken syndrome 6
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ClinVar |
PMID:25741868 PMID:28492532 PMID:32483926 |
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G
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Adss2
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adenylosuccinate synthase 2
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:28492532 |
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NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
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G
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Akt3
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AKT serine/threonine kinase 3
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ISO
|
ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 PMID:25741868 PMID:28492532 More...
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NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708
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G
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Catspere
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catsper channel auxiliary subunit epsilon
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:28492532 |
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NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979
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G
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Cep170
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centrosomal protein 170
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ISO
|
ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:20835237 PMID:22190896 PMID:28492532 |
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NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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G
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Cox20
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cytochrome c oxidase assembly factor COX20
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ISO
|
ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:28492532 |
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NCBI chr13:90,065,900...90,075,386
Ensembl chr14:6,567,733...6,568,056
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G
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Desi2
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desumoylating isopeptidase 2
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ISO
|
ClinVar Annotator: match by term: Senior-Loken syndrome 7
|
ClinVar |
PMID:28492532 |
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NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416
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G
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Hnrnpu
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heterogeneous nuclear ribonucleoprotein U
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:28492532 |
|
NCBI chr13:92,609,791...92,618,580
Ensembl chr13:90,074,181...90,086,588
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G
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Pld5
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phospholipase D family, member 5
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ISO
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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
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G
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Sdccag8
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SHH signaling and ciliogenesis regulator SDCCAG8
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ISO
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ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 PMID:22190896 PMID:22626039 PMID:23188109 PMID:23559409 PMID:25640679 PMID:25741868 PMID:26968886 PMID:27486776 PMID:28492532 PMID:31844813 PMID:32432520 PMID:32483926 PMID:35140360 More...
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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G
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Spmip3
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sperm microtubule inner protein 3
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:28492532 |
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NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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G
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Zbtb18
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zinc finger and BTB domain containing 18
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 7
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ClinVar |
PMID:28492532 |
|
NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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G
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Wdr19
|
WD repeat domain 19
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 8
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29801666 PMID:30586318 PMID:31216405 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:36909829 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G
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Traf3ip1
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TRAF3 interacting protein 1
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ISO
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ClinVar Annotator: match by term: Senior-Loken syndrome 9 | ClinVar Annotator: match by term: TRAF3IP1-related condition
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OMIM ClinVar |
PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 More...
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G
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Afg3l2
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AFG3 like matrix AAA peptidase subunit 2
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onset
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ISO
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DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) ClinVar Annotator: match by term: Spastic ataxia
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ClinVar RGD |
PMID:25741868 PMID:22022284 |
RGD:11532672 |
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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G
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Ahdc1
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AT hook, DNA binding motif, containing 1
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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G
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Amacr
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alpha-methylacyl-CoA racemase
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|
ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:59,946,153...59,958,255
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G
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Ampd2
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adenosine monophosphate deaminase 2
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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G
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Apob
|
apolipoprotein B
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 PMID:28492532 PMID:34445196 |
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NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G
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Arsa
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arylsulfatase A
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 PMID:17560502 PMID:19815439 PMID:20339381 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 PMID:37480112 More...
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NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G
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Atp1a2
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ATPase Na+/K+ transporting subunit alpha 2
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr13:87,261,964...87,286,911
Ensembl chr13:84,729,601...84,754,544
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G
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Atp2b3
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ATPase plasma membrane Ca2+ transporting 3
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr X:156,367,582...156,464,085
Ensembl chr X:151,216,507...151,286,775
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G
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Atp7b
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ATPase copper transporting beta
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 PMID:17949296 PMID:23518715 PMID:25741868 PMID:27398169 PMID:28492532 PMID:34240825 PMID:34400371 PMID:34470610 More...
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NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636
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G
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C1h19orf12
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similar to human chromosome 19 open reading frame 12
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:90,873,549...90,886,208
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G
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Cacna1a
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calcium voltage-gated channel subunit alpha1 A
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
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G
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Cacna1g
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calcium voltage-gated channel subunit alpha1 G
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752
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G
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Cacnb4
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calcium voltage-gated channel auxiliary subunit beta 4
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:36,910,427...37,168,944
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G
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Ccdc88c
|
coiled-coil domain containing 88C
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:120,169,738...120,289,555
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G
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Cep290
|
centrosomal protein 290
|
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ISO
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ClinVar Annotator: match by term: Spastic ataxia
|
ClinVar |
PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 PMID:23027964 PMID:25741868 PMID:28492532 PMID:29398085 PMID:37510321 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G
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Cln6
|
CLN6, transmembrane ER protein
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ISO
|
ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
|
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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G
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Coq4
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coenzyme Q4
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ISO
|
ClinVar Annotator: match by term: Spastic ataxia
|
ClinVar |
PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 PMID:32718099 PMID:33704555 PMID:34440436 PMID:34445196 PMID:36047608 PMID:38013626 More...
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NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
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G
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Cyp7b1
|
cytochrome P450 family 7 subfamily B member 1
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ISO
|
ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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G
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Dab1
|
DAB adaptor protein 1
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ISO
|
ClinVar Annotator: match by term: Spastic ataxia
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ClinVar |
PMID:25741868 |
|
NCBI chr 5:123,621,510...124,742,585
Ensembl chr 5:119,140,533...119,510,552
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G
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Dars2
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aspartyl-tRNA synthetase 2 (mitochondrial)
|
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ISO
|
ClinVar Annotator: match by term: Spastic ataxia
|
ClinVar |
PMID:25741868 |
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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G
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Dnmt1
|
DNA methyltransferase 1
|
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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
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G
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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
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G
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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 |
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NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369 Ensembl chr10:2,419,038...2,448,369
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G
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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
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G
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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
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G
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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
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G
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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
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G
|
Galc
|
galactosylceramidase
|
|
ISO
|
ClinVar Annotator: match by term: Spastic ataxia
|
ClinVar |
PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 PMID:32576985 PMID:34445196 More...
|
|
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
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|
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 PMID:34445196 More...
|
|
NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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G
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Glb1
|
galactosidase, beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic ataxia
|
ClinVar |
PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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|
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
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|
G
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
|
|
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
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|
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
|
|
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
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|
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
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|
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
|
|
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 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:32373668 PMID:32597037 PMID:33491183 PMID:36344503 More...
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|
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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|
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 PMID:25741868 PMID:28492532 PMID:28878621 More...
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|
NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:135,121,163...135,142,048
|
|
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
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|
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
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|
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
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|
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
|
|
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
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|
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
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|
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
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|
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
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|
G
|
Spast
|
spastin
|
|
ISO
|
ClinVar Annotator: match by term: Spastic ataxia
|
ClinVar |
PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 PMID:30476002 PMID:34445196 More...
|
|
NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:21,055,349...21,107,954
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|
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
|
|
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
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|
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 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 PMID:32643187 PMID:34445196 More...
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|
NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369
|
|
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 PMID:28492532 More...
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|
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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|
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
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|
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
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|
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
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|
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
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|
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 PMID:20301750 PMID:20738327 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:33046911 PMID:33879153 PMID:34445196 PMID:36225977 PMID:37108562 PMID:37277527 More...
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|
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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|
|
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 PMID:28492532 PMID:39825153 More...
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|
NCBI chr 4:158,021,454...158,028,905
|
|
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 PMID:28492532 PMID:39825153 More...
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|
NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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|
|
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 PMID:28492532 PMID:30659264 PMID:31325447 PMID:31396399 PMID:31967322 PMID:32718099 PMID:33704555 PMID:34440436 PMID:34445196 PMID:34992632 PMID:35598585 PMID:36047608 PMID:38013626 PMID:38014483 More...
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|
NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
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|
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
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|
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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
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|
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
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|
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
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|
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
|
|
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
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|
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
|
|
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 PMID:24482476 PMID:24808017 PMID:25741868 PMID:26633545 PMID:27666373 PMID:28492532 PMID:28687974 PMID:28832565 PMID:29482223 PMID:30067756 PMID:32501971 PMID:34270679 PMID:34946966 PMID:35961316 PMID:39825153 More...
|
|
NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
|
|
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
|
|
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
|
|
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
|
|
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
|
|
|
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
|
|
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 PMID:25741868 More...
|
|
NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
|
|
|
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 PMID:26467025 PMID:28492532 PMID:31779033 More...
|
|
NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538
|
|
|
G
|
Afg3l2
|
AFG3 like matrix AAA peptidase subunit 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic ataxia 5
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OMIM ClinVar |
PMID:22022284 PMID:24272953 PMID:25401298 PMID:25741868 PMID:26454370 PMID:26467025 PMID:27165006 PMID:28449981 PMID:28454995 PMID:28492532 PMID:29482223 PMID:30910913 PMID:31111429 PMID:31327635 PMID:31589614 PMID:32219868 PMID:32237276 PMID:32248051 PMID:32600459 PMID:33841295 PMID:34333379 PMID:34418069 PMID:34445196 PMID:35869996 PMID:37332640 PMID:37804316 More...
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NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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G
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Tubb6
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tubulin, beta 6 class V
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 5
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ClinVar |
PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 |
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NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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G
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Nkx6-2
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NK6 homeobox 2
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
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OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 PMID:30285346 PMID:31509304 PMID:32860008 PMID:39825153 More...
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NCBI chr 1:203,811,582...203,813,122
Ensembl chr 1:194,381,975...194,383,515
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G
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Chp1
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calcineurin-like EF-hand protein 1
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ISO
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OMIM |
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NCBI chr 3:126,989,800...127,025,071
Ensembl chr 3:106,536,004...106,571,251
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G
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Klc2
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kinesin light chain 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: KLC2-related condition | ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy
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OMIM CTD ClinVar |
PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532 |
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NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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G
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Rab18
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RAB18, member RAS oncogene family
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
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CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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G
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Rab3gap1
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RAB3 GTPase activating protein catalytic subunit 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
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CTD ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 |
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NCBI chr13:41,908,179...41,981,611
Ensembl chr13:39,352,247...39,429,169
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G
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Rab3gap2
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RAB3 GTPase activating non-catalytic protein subunit 2
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
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CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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G
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Tbc1d20
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TBC1 domain family, member 20
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ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
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NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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G
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Rab3gap1
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RAB3 GTPase activating protein catalytic subunit 1
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ISO
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ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: Warburg micro syndrome 1
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OMIM ClinVar |
PMID:8249951 PMID:9536098 PMID:15216542 PMID:15216543 PMID:15696165 PMID:16199547 PMID:17351351 PMID:17576681 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23176487 PMID:23420520 PMID:25326635 PMID:25741868 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28454995 PMID:28492532 PMID:29300443 PMID:29878067 PMID:30202406 PMID:30730599 PMID:31319225 PMID:32651314 PMID:32740904 PMID:32870266 PMID:33951304 PMID:34702808 PMID:37575647 More...
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NCBI chr13:41,908,179...41,981,611
Ensembl chr13:39,352,247...39,429,169
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G
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Rab3gap2
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RAB3 GTPase activating non-catalytic protein subunit 2
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ISO
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ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2
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OMIM ClinVar |
PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266 More...
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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G
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Rab18
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RAB18, member RAS oncogene family
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ISO ISS
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ClinVar Annotator: match by term: RAB18-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 3 OMIM:614222
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OMIM ClinVar MouseDO |
PMID:18414213 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 More...
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NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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G
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Tbc1d20
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TBC1 domain family, member 20
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ISO ISS
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ClinVar Annotator: match by term: TBC1D20-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 4 OMIM:615663
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OMIM ClinVar MouseDO |
PMID:24239381 PMID:25741868 PMID:28492532 PMID:32740904 |
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NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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G
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Zc4h2
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zinc finger C4H2-type containing
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ISO
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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
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OMIM ClinVar CTD |
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 PMID:36250278 PMID:38703036 More...
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NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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G
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Mt-nd1
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mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
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ISO
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DNA:snp:cds:m.4216T>C (human)
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RGD |
PMID:9309689 |
RGD:5490247 |
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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G
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Wfs1
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wolframin ER transmembrane glycoprotein
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ISO
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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
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ClinVar CTD RGD |
PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 PMID:12955714 PMID:15151504 PMID:15277431 PMID:16806192 PMID:17568405 PMID:17603484 PMID:18060660 PMID:19344068 PMID:20301750 PMID:20738327 PMID:21446023 PMID:21602428 PMID:22226368 PMID:22238590 PMID:23429432 PMID:23596069 PMID:24033266 PMID:24705017 PMID:24890733 PMID:25133958 PMID:25741868 PMID:26435059 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29207974 PMID:30014265 PMID:30245029 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31567480 PMID:31980526 PMID:32141364 PMID:33046911 PMID:33763535 PMID:33841295 PMID:33879153 PMID:34404380 PMID:34426522 PMID:35018440 PMID:35469785 PMID:36098976 PMID:36208030 PMID:36227502 PMID:37508961 PMID:37510321 PMID:9771706 More...
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RGD:1599813 |
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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Wfs1
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wolframin ER transmembrane glycoprotein
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ISO ISS
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ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM:222300
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OMIM ClinVar MouseDO |
PMID:1161832 PMID:1615141 PMID:3095763 PMID:3126496 PMID:3387915 PMID:3442652 PMID:3478949 PMID:8808601 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10624825 PMID:10679252 PMID:10760554 PMID:11161832 PMID:11244483 PMID:11260218 PMID:11295831 PMID:11317350 PMID:11694551 PMID:11709537 PMID:11709538 PMID:11811080 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12565131 PMID:12707373 PMID:12754709 PMID:12782971 PMID:12913071 PMID:12955714 PMID:15008830 PMID:15151504 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15852062 PMID:15912360 PMID:16151413 PMID:16195229 PMID:16199547 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17517145 PMID:17568405 PMID:17576681 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18660851 PMID:18688868 PMID:18806274 PMID:19042979 PMID:19292454 PMID:19344068 PMID:19877185 PMID:20028947 PMID:20160352 PMID:20301750 PMID:20738327 PMID:20875904 PMID:21067485 PMID:21127832 PMID:21143470 PMID:21446023 PMID:21454619 PMID:21538838 PMID:21564155 PMID:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22662265 PMID:22781099 PMID:22797899 PMID:22938506 PMID:23257691 PMID:23373429 PMID:23429432 PMID:23535966 PMID:23595122 PMID:23596069 PMID:23845777 PMID:23856252 PMID:23981289 PMID:23990876 PMID:24033266 PMID:24088041 PMID:24117146 PMID:24227685 PMID:24424032 PMID:24497219 PMID:24875298 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25250959 PMID:25262649 PMID:25388789 PMID:25392243 PMID:25497598 PMID:25714468 PMID:25741868 PMID:25842391 PMID:25895475 PMID:26025012 PMID:26284228 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26633545 PMID:26773575 PMID:26875006 PMID:26969326 PMID:27045389 PMID:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27434582 PMID:27468121 PMID:27617222 PMID:27810688 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28502252 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28974383 PMID:28993341 PMID:29048421 PMID:29095814 PMID:29183106 PMID:29207974 PMID:29447883 PMID:29529044 PMID:29549887 PMID:29563951 PMID:29632382 PMID:29850290 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30476936 PMID:30577886 PMID:30773290 PMID:30872718 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31589614 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32219690 PMID:32350710 PMID:32382995 PMID:32567228 PMID:32645618 PMID:32883240 PMID:32938580 PMID:33031055 PMID:33046911 PMID:33098801 PMID:33116287 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34006618 PMID:34258273 PMID:34356170 PMID:34387732 PMID:34404380 PMID:34416374 PMID:34426522 PMID:34440452 PMID:34445196 PMID:34556497 PMID:34573359 PMID:34737607 PMID:34746052 PMID:34758253 PMID:34789499 PMID:34803393 PMID:34837038 PMID:34970515 PMID:34997062 PMID:35018440 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35472603 PMID:35602877 PMID:35810424 PMID:35872528 PMID:35982127 PMID:36098976 PMID:36147510 PMID:36208030 PMID:36227502 PMID:36284460 PMID:36330437 PMID:36597107 PMID:36729443 PMID:36933359 PMID:36958120 PMID:37041640 PMID:37108562 PMID:37277527 PMID:37337769 PMID:37415600 PMID:37444722 PMID:37508961 PMID:37510321 PMID:37719678 PMID:37974252 PMID:38219857 PMID:38400873 PMID:38703036 PMID:39064493 More...
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NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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G
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Cisd2
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CDGSH iron sulfur domain 2
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ISO
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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)
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OMIM ClinVar CTD RGD |
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 PMID:17846994 PMID:19451219 More...
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RGD:10045603, RGD:10045601 |
NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946
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G
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Cisd3
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CDGSH iron sulfur domain 3
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ISO
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ClinVar Annotator: match by term: Wolfram syndrome 2
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ClinVar |
PMID:25741868 |
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NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550
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G
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Pcgf2
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polycomb group ring finger 2
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ISO
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ClinVar Annotator: match by term: Wolfram syndrome 2
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ClinVar |
PMID:25741868 |
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NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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G
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Slc9b1
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solute carrier family 9 member B1
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ISO
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ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2
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ClinVar |
PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 |
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NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
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G
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Rbmx
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RNA binding motif protein, X-linked
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ISO
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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
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OMIM ClinVar CTD |
PMID:25741868 |
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NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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