RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: cranial nerve disease
Accession: DOID:5656
browse the term
Definition: A neuropathy that is located_in one of the twelve cranial nerves. (DO)
Synonyms: exact_synonym: Cranial Nerve Disorder; Cranial Neuropathies; Cranial Neuropathy; Multiple Cranial Neuropathies; cranial nerve diseases; cranial nerve disorders; disorder of cranial nerve; multiple cranial neuropathy; nervus cranialis disorder; nervus cranialis disorders
primary_id: MESH:D003389
xref: ICD10CM:G52.9 ; ICD9CM:352.9 ; NCI:C26733
For additional species annotation, visit the
Alliance of Genome Resources .
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Dnajc19
DnaJ heat shock protein family (Hsp40) member C19
ISO
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar
PMID:16055927 PMID:27928778 PMID:28492532
NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO ISS
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM:258501 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 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:32855858 PMID:32883240 More...
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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Colec11
collectin sub-family member 11
ISO
ClinVar Annotator: match by term: 3MC syndrome 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 PMID:28492532 More...
NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
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Masp1
MBL associated serine protease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258343
NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: OSA syndrome
ClinVar
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 More...
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Artn
artemin
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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Bdnf
brain-derived neurotrophic factor
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cav1
caveolin 1
ISO
RGD
PMID:20881564
RGD:8661782
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
mRNA,protein:decreased expression:myelinated nerve:
RGD
PMID:20600642
RGD:8661792
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:snp:promoter:c.-1053C>T (human)
RGD
PMID:12540498
RGD:1358568
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:missense mutation:cds:p.D312N (rs1799793) (human)
RGD
PMID:20150366
RGD:5688735
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Fgfr1
Fibroblast growth factor receptor 1
disease_progression
ISO
RGD
PMID:15354013
RGD:11567268
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Igf1
insulin-like growth factor 1
susceptibility
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
susceptibility
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
protein:decreased expression:myelinated nerve:
RGD
PMID:20600642
RGD:8661792
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:14660915
RGD:8547959
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Ap4m1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar
PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 PMID:31074943 More...
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532
NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Becn1
beclin 1
IEP
protein:decreased expression:retina
RGD
PMID:21490676
RGD:6483070
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:24316388
RGD:11039419
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.4132G>A (human)
RGD
PMID:17454741
RGD:5490236
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Nos3
nitric oxide synthase 3
susceptibility
ISO
DNA:snp:promoter:g.-786T>C (human)
RGD
PMID:16633797
RGD:7775040
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nek9
NIMA-related kinase 9
ISO
ClinVar Annotator: match by term: Arthrogryposis, Perthes disease, and upward gaze palsy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26633546 PMID:28492532
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
ClinVar
PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 PMID:31692161 More...
NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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Hoxa1
homeobox A1
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:601536 ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome DNA:mutations:cds:185delG,175-176insG,76C>T(human)
CTD MouseDO ClinVar OMIM RGD
PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 PMID:18412118 More...
RGD:11553818
NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504
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Hoxa2
homeobox A2
ISO
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome
ClinVar
PMID:25741868
NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044
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Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition
OMIM ClinVar
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 PMID:29040572 PMID:30250212 More...
NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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Nefh
neurofilament heavy chain
severity
ISO
RGD
PMID:23316360
RGD:27226805
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Ccdc138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gcc2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2
RAN binding protein 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Slc5a7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223 More...
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a
sulfotransferase family 1C member 2A
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3
sulfotransferase family 1C member 3
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
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Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:11431686 PMID:11571332 PMID:11897778 PMID:12073019 PMID:12210792 PMID:12565911 PMID:12707443 PMID:12872260 PMID:14467368 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16595552 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17310215 PMID:17420318 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17725985 PMID:17846414 PMID:17894835 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20185557 PMID:20220442 PMID:20227526 PMID:20301791 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20883824 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21696159 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22470557 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23545419 PMID:23783014 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24398692 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25340760 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25497598 PMID:25585994 PMID:25713120 PMID:25741868 PMID:25850945 PMID:25914719 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26357557 PMID:26467025 PMID:26554610 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27422324 PMID:27450679 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28206745 PMID:28337550 PMID:28430993 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:28901595 PMID:29029963 PMID:29190809 PMID:29272804 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29920680 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30941926 PMID:31085725 PMID:31147703 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31589614 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32019516 PMID:32042919 PMID:32161153 PMID:32234506 PMID:32305867 PMID:32391929 PMID:32445240 PMID:32567010 PMID:32613234 PMID:33233646 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33600046 PMID:33683010 PMID:33726816 PMID:34052969 PMID:34062649 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:35114397 PMID:35186329 PMID:35307828 PMID:35699875 PMID:35760101 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
ClinVar
PMID:11431692 PMID:18575922 PMID:18971204 PMID:20659899 PMID:25741868 PMID:28492532 More...
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Slc25a4
solute carrier family 25 member 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
OMIM CTD ClinVar
PMID:8644740 PMID:10364542 PMID:10926541 PMID:11756613 PMID:12112115 PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:26467025 PMID:27693233 PMID:28492532 PMID:28823815 PMID:29654543 PMID:33923309 More...
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:12707443 PMID:12872260 PMID:15668446 PMID:17614277 PMID:18575922 PMID:18973250 PMID:19084593 PMID:19353676 PMID:19428252 PMID:19513767 PMID:20301746 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24014582 PMID:24018892 PMID:24076137 PMID:24086434 PMID:25133958 PMID:25355836 PMID:25741868 PMID:25989649 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28812649 PMID:29458409 PMID:30496414 PMID:30770810 PMID:30799093 PMID:31271879 PMID:31852434 PMID:32619254 PMID:33095980 PMID:34409151 PMID:35011763 PMID:35286480 PMID:36099812 More...
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Milr1
mast cell immunoglobulin-like receptor 1
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
ClinVar
PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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Polg2
DNA polymerase gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:27592148 PMID:28078310 PMID:28492532 PMID:29625556 PMID:30157269 More...
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17486094 PMID:19664747 PMID:21378381 PMID:21646632 PMID:23107649 PMID:24741716 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:31521625 More...
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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Cdk13
cyclin-dependent kinase 13
ISO
ClinVar Annotator: match by term: Wolfram-like disorder
ClinVar
PMID:25741868 PMID:28492532 PMID:33879837
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 PMID:11317350 PMID:11709537 PMID:11709538 PMID:11916957 PMID:11920861 PMID:12073007 PMID:12107816 PMID:12754709 PMID:12955714 PMID:15234338 PMID:15277431 PMID:15473915 PMID:15605410 PMID:15912360 PMID:16151413 PMID:16648378 PMID:16806192 PMID:17492394 PMID:17568405 PMID:17603484 PMID:18040659 PMID:18060660 PMID:18414213 PMID:18544103 PMID:18688868 PMID:19042979 PMID:19292454 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:22238590 PMID:23373429 PMID:23429432 PMID:23981289 PMID:24033266 PMID:24890733 PMID:24909696 PMID:25048417 PMID:25133958 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:27068579 PMID:27167055 PMID:27217304 PMID:27395765 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28559085 PMID:28802351 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:31264968 PMID:31313226 PMID:31343797 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32219690 PMID:32350710 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34356170 PMID:34445196 PMID:34556497 PMID:34746052 PMID:35206658 PMID:35469785 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 More...
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
ClinVar
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
ClinVar
PMID:10199405 PMID:11574484 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26249686 PMID:28492532 PMID:30653781 More...
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1
OMIM ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:20883824 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22537151 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25914719 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:33046616 PMID:33233646 PMID:33258288 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35186329 PMID:35307828 PMID:35350396 PMID:35598585 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Rnaseh1
ribonuclease H1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
OMIM CTD ClinVar
PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084
NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
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Tk2
thymidine kinase 2
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1734306 PMID:12391347 PMID:12655576 PMID:12682338 PMID:12873860 PMID:15639197 PMID:15907288 PMID:16504786 PMID:16908738 PMID:18819985 PMID:19265691 PMID:21937588 PMID:22345218 PMID:23303857 PMID:23932787 PMID:24033266 PMID:24484525 PMID:25326635 PMID:25446393 PMID:25741868 PMID:25948719 PMID:26224072 PMID:26467025 PMID:26925861 PMID:27839525 PMID:28492532 PMID:28812460 PMID:29602790 PMID:38177409 More...
NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924
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Dguok
deoxyguanosine kinase
ISO
ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 PMID:17576681 PMID:18205204 PMID:19125351 PMID:23043144 PMID:24423689 PMID:24642831 PMID:25131622 PMID:25741868 PMID:26874653 PMID:28492532 PMID:28493820 PMID:28902392 PMID:29137425 PMID:29228108 PMID:30283818 PMID:30393377 PMID:30589726 PMID:30956829 PMID:31664448 More...
NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733
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Top3a
DNA topoisomerase III alpha
ISO
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
OMIM ClinVar
PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 PMID:37013609 More...
NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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Rrm1
ribonucleotide reductase catalytic subunit M1
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder
OMIM ClinVar
PMID:25741868
NCBI chr 1:156,823,960...156,848,262
Ensembl chr 1:156,823,960...156,848,261
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Opa1
OPA1, mitochondrial dynamin like GTPase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of
CTD OMIM ClinVar
PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 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:30293569 PMID:30972688 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:37196654 More...
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Ppia
peptidylprolyl isomerase A
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:32149981
RGD:150429625
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Dagla
diacylglycerol lipase, alpha
ISO
OMIM
NCBI chr 1:206,890,635...206,947,332
Ensembl chr 1:206,890,638...206,947,232
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Optic nerve hypoplasia, bilateral CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10234503 PMID:12634864 PMID:12721955 PMID:18483559 PMID:22692063 PMID:25741868 PMID:26661695 PMID:28321846 PMID:28488383 PMID:28492532 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Foxl2
forkhead box L2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
CTD ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 More...
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Copb2
COPI coat complex subunit beta 2
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Foxl2
forkhead box L2
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM:110100 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33796131 PMID:11175783 More...
RGD:1598958
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome
ClinVar
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Arb2a
ARB2 cotranscriptional regulator A
ISO
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar
PMID:24462372
NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
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Kiaa0825
KIAA0825 homolog
ISO
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar
PMID:24462372
NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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Nr2f1
nuclear receptor subfamily 2, group F, member 1
ISO ISS
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM:615722 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28492532 PMID:28963436 PMID:29410510 PMID:30755392 PMID:31393201 PMID:31729143 PMID:32275123 PMID:32407885 PMID:32712214 PMID:34466801 More...
NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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Pou5f2
POU domain class 5, transcription factor 2
ISO
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar
PMID:24462372
NCBI chr 2:7,907,504...7,908,738
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
G
Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by term: Brown syndrome
ClinVar
PMID:25741868
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
G
Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 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:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 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:29305691 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:32581362 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:36192182 PMID:24468074 More...
RGD:11576280
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
G
Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
G
Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1
OMIM ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
G
Mymx
myomixer, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
OMIM ClinVar
PMID:35642635
NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263
G
Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
ClinVar
PMID:35642635
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
G
Crat
carnitine O-acetyltransferase
ISO
ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY
ClinVar
PMID:25741868 PMID:28492532 PMID:31448845
NCBI chr 3:13,675,684...13,689,282
Ensembl chr 3:13,675,684...13,689,255
G
Eya1
EYA transcriptional coactivator and phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15493068
NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia
ClinVar
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20176107 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27917773 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28958595 PMID:29029963 PMID:29214156 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29992832 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31521625 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32019516 PMID:32042919 PMID:32165824 PMID:32234506 PMID:32305867 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32567010 PMID:32613234 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35307828 PMID:35350396 PMID:35598585 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Acox1
acyl-CoA oxidase 1
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
ClinVar
PMID:25326637 PMID:28492532
NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232
G
Bicd2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
ClinVar
PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954
NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
G
Gdap1
ganglioside-induced differentiation-associated-protein 1
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 PMID:12707075 PMID:14561495 PMID:15019704 PMID:15805163 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301641 PMID:20301711 PMID:20849849 PMID:21365284 PMID:21519004 PMID:21840889 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:26848201 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33187793 PMID:33477664 PMID:35662277 PMID:36140714 More...
NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
G
Lrsam1
leucine rich repeat and sterile alpha motif containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22781092 PMID:27686364
NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154
G
Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137 More...
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
G
Ankfy1
ankyrin repeat and FYVE domain containing 1
ISS
OMIM:270550
MouseDO
NCBI chr10:57,312,246...57,383,964
Ensembl chr10:57,312,246...57,383,964
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Sacs
sacsin molecular chaperone
ISO ISS
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition OMIM:270550 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 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:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24108619 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:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31637422 PMID:31673878 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34121011 PMID:34426522 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35499206 PMID:35578252 PMID:35731353 PMID:36233161 More...
NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
G
Sgcg
sarcoglycan, gamma
ISO
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
G
Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
PMID:25326637 PMID:28492532
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Mecr
mitochondrial trans-2-enoyl-CoA reductase
ISO
ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:31137067 PMID:31160820 PMID:32313153 PMID:32445240 PMID:33401012 PMID:34052969 PMID:37734847 More...
NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
G
Slc44a1
solute carrier family 44 member 1
ISO
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
OMIM ClinVar
PMID:25741868 PMID:28097321 PMID:31855247
NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
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Adgrg4
adhesion G protein-coupled receptor G4
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
G
Arhgef6
Rac/Cdc42 guanine nucleotide exchange factor 6
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
G
Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
G
Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Angelman syndrome-like
ClinVar
PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25657822 PMID:25741868 PMID:26467025 PMID:27770071 PMID:28492532 More...
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
G
Fhl1
four and a half LIM domains 1
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
G
Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
G
Hivep2
HIVEP zinc finger 2
ISO
ClinVar Annotator: match by term: Angelman syndrome-like
ClinVar
PMID:25741868
NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
G
Htatsf1
HIV-1 Tat specific factor 1
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
G
Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
G
Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
G
Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Angelman syndrome-like
ClinVar
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
G
Slc9a6
solute carrier family 9 member A6
ISO ISS
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type OMIM:300243 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:21465648 PMID:24123876 PMID:24123890 PMID:25044251 PMID:25167861 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27256868 PMID:27854218 PMID:28492532 PMID:29275387 PMID:29588952 PMID:32581362 PMID:32776513 PMID:32860008 PMID:34797406 PMID:35032046 PMID:35334527 More...
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,979,657...134,996,007
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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Milr1
mast cell immunoglobulin-like receptor 1
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar
PMID:21555342 PMID:25741868 PMID:28492532
NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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Polg
DNA polymerase gamma, catalytic subunit
ISO
DNA:mutations:exons: c.2864A>G, c.1399G>A, c.911T>G,c.8G>C (human) CTD Direct Evidence: marker/mechanism DNA:mutations:exons,intron:1532G>A,1389G>T, c.2070 + 158G>A(human) DNA:mutations:cds: DNA:insertions,deletions,missense mutation:introns,exon:IVS9+78_79insG,(IVS17+38_39insGTAG,c.1879C>T(human)
CTD RGD
PMID:17923349 PMID:11431686 PMID:17420318 PMID:16401742 PMID:12565911 PMID:12975295 More...
RGD:737726 , RGD:8694204 , RGD:8694183 , RGD:8694170 , RGD:8694163
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Polg2
DNA polymerase gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar
PMID:21555342 PMID:25741868 PMID:28492532
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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Rrm2b
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar
PMID:21646632 PMID:21951382 PMID:23107649 PMID:24741716 PMID:25741868 PMID:28492532 PMID:32161153 More...
NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar RGD
PMID:12565915 PMID:15792871
RGD:1580622 , RGD:1580620
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11907800
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11907800 PMID:14680979
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Twnk
twinkle mtDNA helicase
susceptibility
ISO
DNA:mutations ClinVar Annotator: match by term: Progressive external ophthalmoplegia | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions
ClinVar RGD
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32161153 PMID:35982159 PMID:11431692 More...
RGD:1600544
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Tubb6
tubulin, beta 6 class V
ISO
ClinVar Annotator: match by term: Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
OMIM ClinVar
PMID:25741868 PMID:29016863
NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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Ctnna1
catenin alpha 1
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Fgf21
fibroblast growth factor 21
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 1:96,083,360...96,084,911
Ensembl chr 1:96,083,441...96,090,454
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kif21a
kinesin family member 21A
ISS ISO
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL
MouseDO ClinVar
PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 More...
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mcm3ap
minichromosome maintenance complex component 3 associated protein
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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Myh10
myosin heavy chain 10
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Nes
nestin
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Tuba1b
tubulin, alpha 1B
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186
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Tubb3
tubulin, beta 3 class III
ISS ISO
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
MouseDO ClinVar
PMID:25741868
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Tubb5
tubulin, beta 5 class I
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Kif21a
kinesin family member 21A
ISO
DNA:missense mutation:CDS:2860C>T (p.R954W) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition
CTD ClinVar OMIM RGD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 PMID:14595441 More...
RGD:1600402
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Phox2a
paired-like homeobox 2a
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2
OMIM CTD ClinVar
PMID:11600883 PMID:25741868
NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118
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Tubb3
tubulin, beta 3 class III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related condition | ClinVar Annotator: match by term: TUBB3-related tubulinopathy
OMIM CTD ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:23378218 PMID:24257358 PMID:24612975 PMID:25131622 PMID:25482575 PMID:25741868 PMID:26639658 PMID:26775887 PMID:27046833 PMID:28492532 PMID:28677066 PMID:29269699 PMID:29382549 PMID:29453417 PMID:29706646 PMID:31219644 PMID:31226147 PMID:32573066 PMID:34652576 PMID:34863918 More...
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Col25a1
collagen type XXV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5
OMIM CTD ClinVar
PMID:25500261 PMID:25741868 PMID:31875546
NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
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Fxr1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar
PMID:25741868 PMID:30770808
NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590
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Ryr1
ryanodine receptor 1
ISO ISS
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: MULTICORE MYOPATHY | ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia | ClinVar Annotator: match by term: Multiminicore myopathy OMIM:255320 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO OMIM CTD
PMID:16940 PMID:18253 PMID:1329581 PMID:1510267 PMID:1639409 PMID:1743490 PMID:1774073 PMID:1774074 PMID:1810122 PMID:1862346 PMID:3356401 PMID:7299413 PMID:7511586 PMID:7547049 PMID:7586638 PMID:7633940 PMID:7751854 PMID:7762556 PMID:7889656 PMID:8010475 PMID:8401544 PMID:8602662 PMID:8828983 PMID:9334205 PMID:9389851 PMID:9450902 PMID:9497245 PMID:9520251 PMID:9536098 PMID:9873004 PMID:10051009 PMID:10097181 PMID:10352931 PMID:10484775 PMID:10756965 PMID:10823104 PMID:10888602 PMID:11274444 PMID:11448278 PMID:11493496 PMID:11553045 PMID:11575529 PMID:11668625 PMID:11673462 PMID:11709545 PMID:11741831 PMID:12059893 PMID:12123492 PMID:12124989 PMID:12136074 PMID:12151923 PMID:12208234 PMID:12237752 PMID:12411786 PMID:12411788 PMID:12434264 PMID:12565913 PMID:12642598 PMID:12700608 PMID:12709367 PMID:12719381 PMID:12732639 PMID:12937085 PMID:14500992 PMID:14670767 PMID:14732627 PMID:14985404 PMID:15175001 PMID:15210166 PMID:15221887 PMID:15299003 PMID:15448513 PMID:15731587 PMID:16084090 PMID:16163667 PMID:16199547 PMID:16244001 PMID:16272262 PMID:16372898 PMID:16380615 PMID:16621918 PMID:16732084 PMID:16732090 PMID:16835904 PMID:16917943 PMID:16940308 PMID:16958617 PMID:17033962 PMID:17081152 PMID:17204937 PMID:17226826 PMID:17365175 PMID:17483490 PMID:17538032 PMID:17576681 PMID:17667581 PMID:17710899 PMID:17968765 PMID:18063506 PMID:18171678 PMID:18193641 PMID:18253926 PMID:18414213 PMID:18502356 PMID:18564801 PMID:18719443 PMID:18813041 PMID:19191329 PMID:19191333 PMID:19223216 PMID:19346234 PMID:19513315 PMID:19645060 PMID:19648156 PMID:19807743 PMID:19825159 PMID:19931341 PMID:20080402 PMID:20142353 PMID:20301325 PMID:20566647 PMID:20583297 PMID:20681998 PMID:20839240 PMID:20888934 PMID:20952238 PMID:20981092 PMID:21062345 PMID:21118704 PMID:21157159 PMID:21455645 PMID:21503806 PMID:21514828 PMID:21674524 PMID:21795085 PMID:21825032 PMID:21878807 PMID:21911697 PMID:21918424 PMID:21965348 PMID:22030266 PMID:22203976 PMID:22415532 PMID:22418739 PMID:22473935 PMID:22705209 PMID:22734812 PMID:22851008 PMID:22913516 PMID:22992668 PMID:22995991 PMID:23035052 PMID:23069638 PMID:23183335 PMID:23204524 PMID:23308296 PMID:23329375 PMID:23394784 PMID:23459219 PMID:23460944 PMID:23476141 PMID:23478172 PMID:23553484 PMID:23553787 PMID:23558838 PMID:23628358 PMID:23826317 PMID:23842196 PMID:23919265 PMID:24033266 PMID:24055113 PMID:24088041 PMID:24091937 PMID:24195946 PMID:24215330 PMID:24361844 PMID:24433488 PMID:24561095 PMID:24627108 PMID:24950660 PMID:24951453 PMID:24961629 PMID:25084811 PMID:25086907 PMID:25214167 PMID:25256590 PMID:25268394 PMID:25326635 PMID:25428687 PMID:25461839 PMID:25466363 PMID:25476234 PMID:25517095 PMID:25525159 PMID:25614869 PMID:25635128 PMID:25637381 PMID:25658027 PMID:25683120 PMID:25735680 PMID:25741868 PMID:25747005 PMID:25957634 PMID:25958340 PMID:25960145 PMID:25985138 PMID:25987458 PMID:25989378 PMID:26019235 PMID:26068069 PMID:26115329 PMID:26332594 PMID:26467025 PMID:26565425 PMID:26633545 PMID:26841830 PMID:26951757 PMID:26994242 PMID:27005958 PMID:27058611 PMID:27066551 PMID:27147545 PMID:27153395 PMID:27159402 PMID:27353517 PMID:27363342 PMID:27382027 PMID:27431030 PMID:27447704 PMID:27545679 PMID:27558158 PMID:27586648 PMID:27616680 PMID:27646467 PMID:27663056 PMID:27854218 PMID:27857962 PMID:28003660 PMID:28007021 PMID:28224104 PMID:28259615 PMID:28269792 PMID:28326467 PMID:28357410 PMID:28403410 PMID:28492532 PMID:28496993 PMID:28527222 PMID:28687594 PMID:28818389 PMID:29169929 PMID:29172004 PMID:29178655 PMID:29298851 PMID:29344738 PMID:29382405 PMID:29417091 PMID:29556213 PMID:29629541 PMID:29635721 PMID:29667327 PMID:29701772 PMID:29792937 PMID:30122538 PMID:30155738 PMID:30236257 PMID:30325262 PMID:30406384 PMID:30499100 PMID:30609409 PMID:30611313 PMID:30724636 PMID:30788618 PMID:30827497 PMID:30842289 PMID:30864471 PMID:30872186 PMID:31016048 PMID:31055738 PMID:31107960 PMID:31127727 PMID:31130284 PMID:31135626 PMID:31165076 PMID:31206373 PMID:31304636 PMID:31447099 PMID:31517061 PMID:31559918 PMID:31680349 PMID:31742715 PMID:31851124 PMID:31903994 PMID:31994743 PMID:32054689 PMID:32098966 PMID:32236737 PMID:32304219 PMID:32371413 PMID:32403337 PMID:32528171 PMID:32665702 PMID:33037202 PMID:33146414 PMID:33333461 PMID:33458582 PMID:33490280 PMID:33564012 PMID:33646171 PMID:33726816 PMID:33767344 PMID:34000440 PMID:34008892 PMID:34316023 PMID:34411415 PMID:34428338 PMID:34440373 PMID:34463354 PMID:34528764 PMID:34535181 PMID:34625927 PMID:34645488 PMID:34809703 PMID:34904211 PMID:35081925 PMID:35285867 PMID:35428369 PMID:35535697 PMID:35549722 PMID:35599849 PMID:35627144 PMID:36208971 PMID:36283893 PMID:36628841 PMID:37273706 PMID:37510298 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Srpk3
SRSF protein kinase 3
ISO
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar
PMID:25741868
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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Ttn
titin
ISO
ClinVar Annotator: match by term: Minicore myopathy | ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar
PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Gas7
growth arrest specific 7
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:52,152,718...52,383,283
Ensembl chr10:52,152,493...52,383,276
G
Glp2r
glucagon-like peptide 2 receptor
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:52,402,748...52,466,012
Ensembl chr10:52,402,748...52,466,012
G
Myh1
myosin heavy chain 1
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295
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Myh13
myosin heavy chain 13
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:52,012,779...52,068,960
Ensembl chr10:52,009,425...52,068,951
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Myh2
myosin heavy chain 2
ISO
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11114175 PMID:11889243 PMID:15548556 PMID:15741996 PMID:16130113 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:20418530 PMID:22349865 PMID:22406018 PMID:23388406 PMID:23489661 PMID:24033266 PMID:24193343 PMID:25617006 PMID:25640679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29934118 PMID:31127727 PMID:31321302 PMID:31407473 PMID:32578970 PMID:33250842 PMID:34459418 PMID:35239206 PMID:36774715 More...
NCBI chr10:51,856,738...51,883,236
Ensembl chr10:51,856,738...51,883,236
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myh4
myosin heavy chain 4
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:51,923,149...51,946,297
Ensembl chr10:51,885,913...51,946,295
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Myh8
myosin heavy chain 8
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Rcvrn
recoverin
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:52,388,706...52,396,454
Ensembl chr10:52,388,706...52,396,453
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Sco1
synthesis of cytochrome C oxidase 1
ISO
ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar
PMID:28492532
NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Ahr
aryl hydrocarbon receptor
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:23301081
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26029869
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Myo7a
myosin VIIA
ISO
associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human)
RGD
PMID:21901789
RGD:11537385
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Pax6
paired box 6
ISO
DNA:snp:intron:IVS4+5G>C (human)
RGD
PMID:15629294
RGD:8552281
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Congenital nystagmus
ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Rpe65
retinoid isomerohydrolase RPE65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32971638
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Frmd7
FERM domain containing 7
ISO ISS
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked OMIM:310700 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25678693 PMID:25741868 PMID:25916882 PMID:27081518 PMID:28492532 PMID:30015830 PMID:30025138 PMID:30942644 More...
NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
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Gpr143
G protein-coupled receptor 143
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
OMIM CTD ClinVar
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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Robo1
roundabout guidance receptor 1
ISO
OMIM
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Neurog1
neurogenin 1
ISO
ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
ClinVar OMIM
PMID:25741868 PMID:26077850 PMID:33439489 PMID:36647078
NCBI chr17:8,362,878...8,364,397
Ensembl chr17:8,362,821...8,364,571
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Bmp4
bone morphogenetic protein 4
IEP
mRNA:increased expression:superior cervical ganglion
RGD
PMID:16420416
RGD:2289006
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:15153618
RGD:4891994
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Deafness dystonia syndrome
ClinVar
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
DNA:mutation:intron:IVS1-23A>C(human) ClinVar Annotator: match by term: Deafness dystonia syndrome CTD Direct Evidence: marker/mechanism DNA:mutation:exon:116delT(Q38fsX64)(human) DNA:deletion:cds:108delG(human)
ClinVar CTD OMIM RGD
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:11956200 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:21984432 PMID:22736418 PMID:24033266 PMID:25741868 PMID:28492532 PMID:15710860 PMID:17471106 PMID:11601506 More...
RGD:13209130 , RGD:13209136 , RGD:13209134
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
OMIM CTD ClinVar
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:31680123 PMID:32860008 PMID:32901917 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Opa1
OPA1, mitochondrial dynamin like GTPase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
CTD OMIM ClinVar
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:12488262 PMID:12566046 PMID:14644237 PMID:14961560 PMID:15505825 PMID:15531309 PMID:16158427 PMID:16240368 PMID:16513463 PMID:17167772 PMID:17188070 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:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21036400 PMID:21112924 PMID:21636302 PMID:21646330 PMID:21745197 PMID:22042570 PMID:22433900 PMID:22779427 PMID:22857269 PMID:23250881 PMID:23388408 PMID:23401657 PMID:23916084 PMID:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25146915 PMID:25146916 PMID:25564500 PMID:25641387 PMID:25741868 PMID:26206283 PMID:26385429 PMID:26455272 PMID:26467025 PMID:26561570 PMID:26867657 PMID:27165006 PMID:27290639 PMID:27696015 PMID:27858935 PMID:27890673 PMID:28125838 PMID:28378518 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28848318 PMID:28926202 PMID:28981474 PMID:29389947 PMID:30293569 PMID:30972688 PMID:31500643 PMID:31521625 PMID:31609081 PMID:31673222 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:34242285 PMID:34426522 PMID:34732400 PMID:34758253 PMID:35741767 PMID:37196654 More...
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO ISS
DNA:missense mutation:cds:p.R345W (human) ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy OMIM:126600 CTD Direct Evidence: marker/mechanism protein:altered expression: :
ClinVar MouseDO CTD OMIM RGD
PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 PMID:22031286 PMID:25077532 PMID:25741868 PMID:26162006 PMID:28492532 PMID:30541486 PMID:33019987 PMID:33542268 PMID:33546218 PMID:33689237 PMID:10369267 PMID:12242346 PMID:17664227 More...
RGD:1598888 , RGD:10401794 , RGD:10401791
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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Prph2
peripherin 2
ISO
ClinVar Annotator: match by term: MALATTIA LEVENTINESE
ClinVar
PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 PMID:17576681 PMID:23950152 PMID:25082885 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 PMID:28559085 PMID:32531846 More...
NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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Actr1b
actin related protein 1B
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 9:38,928,819...38,938,483
Ensembl chr 9:38,929,912...38,938,507
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Chn1
chimerin 1
ISO ISS
ClinVar Annotator: match by term: Duane retraction syndrome OMIM:126800 | OMIM:604356 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 PMID:22058051 PMID:25741868 PMID:27746867 PMID:28492532 More...
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Cux1
cut-like homeobox 1
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
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Fer
FER tyrosine kinase
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 9:103,520,452...103,827,364
Ensembl chr 9:103,520,493...103,821,451
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Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Mafb
MAF bZIP transcription factor B
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:126800 | OMIM:604356
CTD MouseDO
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Sall4
spalt-like transcription factor 4
ISO
DNA:snps, deletions, insertion:multiple (human) CTD Direct Evidence: marker/mechanism DNA:duplication:cds:c.410dupG (human) DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human) DNA:nonsense mutation:cds:p.R905X (human) DNA:frameshift mutation:cds:p.M640IfsX25 (human)
CTD RGD
PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 PMID:16411190 PMID:17216607 PMID:23687435 More...
RGD:11556210 , RGD:11532205 , RGD:11556232 , RGD:11556231 , RGD:11556215 , RGD:11556211
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: Duane retraction syndrome
ClinVar
PMID:25741868
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Duane syndrome type 1
ClinVar
PMID:27181683
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Duane retraction syndrome 2
OMIM ClinVar
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 More...
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness
OMIM ClinVar
PMID:27181683
NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031
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Acp5
acid phosphatase 5, tartrate resistant
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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Angptl8
angiopoietin-like 8
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,376,462...20,378,488
Ensembl chr 8:20,376,462...20,378,490
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Best2
bestrophin 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,142,324...23,148,351
Ensembl chr19:23,141,602...23,148,339
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C8h19orf38
similar to human chromosome 19 open reading frame 38
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,061,494...20,095,705
Ensembl chr 8:20,078,639...20,095,696
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO ISS
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy OMIM:108500 ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive | ClinVar Annotator: match by term: Episodic ataxia type 2 | ClinVar Annotator: match by term: Episodic ataxia with nystagmus | ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:1849839 PMID:8734765 PMID:8898206 PMID:9005860 PMID:9329229 PMID:9345107 PMID:9488686 PMID:9536098 PMID:9600739 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408533 PMID:10408534 PMID:10699052 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11179022 PMID:11370629 PMID:11409427 PMID:11439943 PMID:11564488 PMID:11723274 PMID:11742003 PMID:11809294 PMID:11814735 PMID:11854167 PMID:11971066 PMID:11985388 PMID:12056940 PMID:12235360 PMID:12420090 PMID:12707077 PMID:12736095 PMID:12756131 PMID:14530926 PMID:14592859 PMID:14694040 PMID:14718690 PMID:15003170 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15483044 PMID:15622542 PMID:15743764 PMID:15795222 PMID:15985579 PMID:16043807 PMID:16186543 PMID:16199547 PMID:16306128 PMID:16325861 PMID:16508934 PMID:16583725 PMID:16602100 PMID:16787562 PMID:16866717 PMID:17119788 PMID:17142831 PMID:17292920 PMID:17495624 PMID:17576681 PMID:17588611 PMID:18056581 PMID:18279427 PMID:18313928 PMID:18354422 PMID:18434528 PMID:18437043 PMID:18498393 PMID:18513263 PMID:18541804 PMID:18581134 PMID:18597946 PMID:18606230 PMID:18644040 PMID:18940563 PMID:19232643 PMID:19242091 PMID:19344873 PMID:19484318 PMID:19486177 PMID:19520699 PMID:19586927 PMID:19624685 PMID:19633872 PMID:19811514 PMID:19864665 PMID:20080591 PMID:20097664 PMID:20129625 PMID:20156848 PMID:20301562 PMID:20301674 PMID:20396531 PMID:20663518 PMID:20682717 PMID:20837964 PMID:21183743 PMID:21431381 PMID:21454563 PMID:21703448 PMID:21734179 PMID:21768184 PMID:21927611 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22784462 PMID:22942164 PMID:22969264 PMID:23038654 PMID:23071170 PMID:23103419 PMID:23183922 PMID:23344743 PMID:23397224 PMID:23407676 PMID:23831250 PMID:23869231 PMID:23934111 PMID:24033266 PMID:24046065 PMID:24091540 PMID:24108129 PMID:24270521 PMID:24420976 PMID:24445160 PMID:24486772 PMID:24498617 PMID:24658662 PMID:24664531 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25274781 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25481746 PMID:25525159 PMID:25596066 PMID:25640679 PMID:25716839 PMID:25735478 PMID:25741868 PMID:25758715 PMID:25784583 PMID:25819952 PMID:25851414 PMID:25969684 PMID:26423924 PMID:26467025 PMID:26633542 PMID:26716990 PMID:26795593 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27165006 PMID:27250579 PMID:27290639 PMID:27400454 PMID:27476654 PMID:27667184 PMID:27871455 PMID:27959697 PMID:27965395 PMID:28007337 PMID:28135719 PMID:28166811 PMID:28169007 PMID:28252636 PMID:28431595 PMID:28444220 PMID:28455667 PMID:28492532 PMID:28540055 PMID:28566750 PMID:28742085 PMID:28856914 PMID:28900389 PMID:28927557 PMID:28978442 PMID:29056246 PMID:29062094 PMID:29100083 PMID:29165669 PMID:29184170 PMID:29186148 PMID:29276004 PMID:29343472 PMID:29389947 PMID:29444203 PMID:29482223 PMID:29713557 PMID:29852413 PMID:29883219 PMID:29908077 PMID:29915382 PMID:29924869 PMID:29926469 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30167989 PMID:30185235 PMID:30283815 PMID:30301590 PMID:30692599 PMID:30852237 PMID:30891074 PMID:31015257 PMID:31115040 PMID:31139143 PMID:31164858 PMID:31171384 PMID:31288946 PMID:31302675 PMID:31440721 PMID:31447099 PMID:31468518 PMID:31475473 PMID:31487502 PMID:31506931 PMID:31618753 PMID:31654490 PMID:31692161 PMID:31719132 PMID:31810576 PMID:31824404 PMID:31915071 PMID:32116539 PMID:32170034 PMID:32238909 PMID:32581362 PMID:32910250 PMID:33084218 PMID:33098801 PMID:33121221 PMID:33144682 PMID:33163565 PMID:33233562 PMID:33278787 PMID:33349592 PMID:33425808 PMID:33746731 PMID:33790770 PMID:33879512 PMID:34085110 PMID:34102571 PMID:34263451 PMID:34320921 PMID:34356170 PMID:34426522 PMID:34436362 PMID:34631621 PMID:34806130 PMID:35154276 PMID:35217970 PMID:35401678 PMID:35600082 PMID:35722745 PMID:35723786 PMID:35837781 PMID:36353133 PMID:36530930 PMID:37555011 PMID:97053792 PMID:14530926 More...
RGD:1358446
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Calr
calreticulin
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
G
Carm1
coactivator-associated arginine methyltransferase 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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Ccdc159
coiled-coil domain containing 159
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,457,905...20,467,232
Ensembl chr 8:20,457,909...20,466,562
G
Cnn1
calponin 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,632,434...20,641,097
Ensembl chr 8:20,632,338...20,641,098
G
Dand5
DAN domain BMP antagonist family member 5
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
G
Dhps
deoxyhypusine synthase
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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Dnase2
deoxyribonuclease 2, lysosomal
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376
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Dnm2
dynamin 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
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Dock6
dedicator of cytokinesis 6
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Ecsit
ECSIT signaling integrator
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,605,583...20,618,453
Ensembl chr 8:20,605,583...20,618,390
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Elavl3
ELAV like RNA binding protein 3
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,547,108...20,583,369
Ensembl chr 8:20,550,201...20,583,641
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Elof1
elongation factor 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,645,336...20,650,888
Ensembl chr 8:20,645,336...20,650,579
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Epor
erythropoietin receptor
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Farsa
phenylalanyl-tRNA synthetase subunit alpha
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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Fbxw9
F-box and WD repeat domain containing 9
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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Gadd45gip1
GADD45G interacting protein 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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Gcdh
glutaryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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Get3
guided entry of tail-anchored proteins factor 3, ATPase
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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Hook2
hook microtubule-tethering protein 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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Ier2
immediate early response 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Kank2
KN motif and ankyrin repeat domains 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
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Klf1
KLF transcription factor 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Man2b1
mannosidase, alpha, class 2B, member 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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MAST1
microtubule associated serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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Nacc1
nucleus accumbens associated 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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Nfix
nuclear factor I X
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Odad3
outer dynein arm docking complex subunit 3
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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Prdx2
peroxiredoxin 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Prkcsh
PRKCSH beta subunit of glucosidase II
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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Rab3d
RAB3D, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,438,622...20,449,269
Ensembl chr 8:20,439,294...20,449,185
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Rad23a
RAD23 homolog A, nucleotide excision repair protein
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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Ralgdsl3
ral guanine nucleotide dissociation stimulator like 3
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,500,846...20,520,471
Ensembl chr 8:20,500,846...20,520,471
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Rnaseh2a
ribonuclease H2, subunit A
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rtbdn
retbindin
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Spc24
SPC24 component of NDC80 kinetochore complex
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,300,315...20,305,354
Ensembl chr 8:20,300,319...20,305,310
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Swsap1
SWIM-type zinc finger 7 associated protein 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,486,680...20,489,213
Ensembl chr 8:20,486,678...20,489,211
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Syce2
synaptonemal complex central element protein 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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Timm29
translocase of inner mitochondrial membrane 29
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,145,264...20,148,233
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Tmed1
transmembrane p24 trafficking protein 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,059,937...20,063,567
Ensembl chr 8:20,059,892...20,063,677
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Tmem205
transmembrane protein 205
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,452,092...20,458,011
Ensembl chr 8:20,452,092...20,457,828
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Tnpo2
transportin 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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Trir
telomerase RNA component interacting RNase
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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Trmt1
tRNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29184170 More...
NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
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Wdr83
WD repeat domain 83
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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Wdr83os
WD repeat domain 83 opposite strand
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 More...
NCBI chr19:23,075,373...23,076,745
Ensembl chr19:23,075,376...23,076,894
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Yipf2
Yip1 domain family, member 2
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,141,148...20,145,349
Ensembl chr 8:20,141,155...20,145,339
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Zfp653
zinc finger protein 653
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,586,607...20,605,439
Ensembl chr 8:20,586,563...20,604,864
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Zfp709
zinc finger protein 709
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr16:17,907,599...17,920,047
Ensembl chr16:17,909,641...17,919,700
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Zfp791
zinc finger protein 791
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr19:23,018,418...23,033,580
Ensembl chr19:23,018,918...23,033,504
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Zfp799
zinc finger protein 799
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 7:11,894,224...11,910,809
Ensembl chr 7:11,898,149...11,910,798
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Zfp866
zinc finger protein 866
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr16:19,653,966...19,675,968
Ensembl chr16:19,668,258...19,675,932
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Zfp867
zinc finger protein 867
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr10:44,244,813...44,255,223
Ensembl chr10:44,245,880...44,255,395
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Zfp873
zinc finger protein 873
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 7:7,926,951...7,959,822
Ensembl chr 7:7,926,957...7,951,803 Ensembl chr 7:7,926,957...7,951,803
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Zfp878
zinc finger protein 878
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr16:17,856,860...17,887,122
Ensembl chr16:17,856,878...17,868,403
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Zfp951
zinc finger protein 951
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr14:5,032,494...5,048,775
Ensembl chr14:5,033,734...5,048,756
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ZNF69l
zinc finger protein 69 like
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 3:138,545,521...138,560,500
Ensembl chr 3:138,544,658...138,557,896
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Znf709l
zinc finger protein 709 like
ISO
ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar
PMID:28492532
NCBI chr 8:20,710,114...20,721,236
Ensembl chr 8:20,710,461...20,720,246
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Fdx2
ferredoxin 2
ISO
ClinVar Annotator: match by term: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY | ClinVar Annotator: match by term: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
OMIM ClinVar
PMID:24281368 PMID:25741868 PMID:28492532
NCBI chr 8:19,604,916...19,609,832
Ensembl chr 8:19,604,916...19,609,849
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Tgfbi
transforming growth factor, beta induced
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epithelial basement membrane dystrophy
OMIM CTD ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 PMID:28492532
NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240
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Tfap2a
transcription factor AP-2 alpha
ISO
ClinVar Annotator: match by term: Esotropia
ClinVar
PMID:25741868
NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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Adcyap1
adenylate cyclase activating polypeptide 1
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:19427307
RGD:2325258
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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Atf2
activating transcription factor 2
IEP
RGD
PMID:9813301
RGD:10047413
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19922414
RGD:6892922
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cd59b
CD59b molecule
IEP
mRNA, protein:increased expression:facial VII nucleus
RGD
PMID:9846834
RGD:1600495
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Csf1
colony stimulating factor 1
IEP
protein:increased expression:facial VII nerve, microglial cell
RGD
PMID:20831658
RGD:5131509
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Ctss
cathepsin S
ISO
RGD
PMID:17539023
RGD:5686912
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Gfra1
GDNF family receptor alpha 1
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Hgf
hepatocyte growth factor
treatment
IDA
RGD
PMID:21562589
RGD:8548634
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Mt3
metallothionein 3
treatment
IDA
RGD
PMID:14625437
RGD:9685806
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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Ndufa5
NADH:ubiquinone oxidoreductase subunit A5
IEP
mRNA:increased expression:skeletal muscle
RGD
PMID:8875451
RGD:2302319
NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
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Ret
ret proto-oncogene
IEP
mRNA:increased expression:facial VII nucleus
RGD
PMID:9582449
RGD:6218984
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Mmp9
matrix metallopeptidase 9
ISO
associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus
RGD
PMID:23817985
RGD:8547852
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:4327920
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Dcc
DCC netrin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28250456
NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Robo3
roundabout guidance receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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Robo3
roundabout guidance receptor 3
ISO
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1
OMIM ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:21850172 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32373565 PMID:32580277 PMID:32860008 PMID:34374989 More...
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
G
Dcc
DCC netrin 1 receptor
ISO
ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
OMIM ClinVar
PMID:25741868 PMID:28250456 PMID:28492532
NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Atoh7
atonal bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:28492532 PMID:31696227
NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
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Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29385733
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:31696227
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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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 PMID:9158138 PMID:10766867 PMID:11295837 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:27734839 PMID:28378818 PMID:28492532 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:35803923 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 PMID:10441571 PMID:12634864 PMID:12868034 PMID:14744876 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18332330 PMID:18483559 PMID:18776953 PMID:22361317 PMID:22692063 PMID:23404109 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27013732 PMID:28321846 PMID:28492532 PMID:31161946 PMID:32360764 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Slc38a8
solute carrier family 38, member 8
ISO ISS
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis OMIM:609218 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 PMID:28492532 PMID:28546991 PMID:29345414 PMID:32032626 PMID:32830442 PMID:33498813 PMID:33594928 PMID:33781268 PMID:35029636 More...
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Antxr1
ANTXR cell adhesion molecule 1
susceptibility
ISO
DNA:missense mutations:cds:c.505C>T,c.262C>T (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GAPO syndrome
OMIM CTD ClinVar RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 PMID:25741868 PMID:28492532 PMID:23602711 More...
RGD:9684854
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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Sec31a
SEC31 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
OMIM ClinVar
PMID:25741868 PMID:30464055
NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
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Hoxb1
homeo box B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24239177
NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
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Hoxb1
homeo box B1
ISO
ClinVar Annotator: match by term: Facial paresis, hereditary congenital, 3
OMIM ClinVar
PMID:22770981 PMID:25741868 PMID:26007620 PMID:26467025 PMID:27144914 PMID:28492532 More...
NCBI chr10:81,331,507...81,332,928
Ensembl chr10:81,331,507...81,332,836
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Cask
calcium/calmodulin dependent serine protein kinase
ISO
RGD
PMID:9722958
RGD:734690
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Autosomal recessive optic atrophy
ClinVar
PMID:10951519 PMID:11328726 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8662757 PMID:11695835
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10072046
NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Tmem126a
transmembrane protein 126A
ISO
ClinVar Annotator: match by term: Optic Atrophy, Recessive
ClinVar
NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
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Acvr1b
activin A receptor type 1B
IEP
RGD
PMID:9013782
RGD:151665480
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
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Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif, 1
IEP
mRNA:increased expression:hypoglossal nerve
RGD
PMID:11311987
RGD:5037239
NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
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Aif1
allograft inflammatory factor 1
IEP
RGD
PMID:9698327
RGD:704401
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Csnk2b
casein kinase 2 beta
IEP
RGD
PMID:11068334
RGD:11565824
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:9183688
RGD:8655640
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgfr1
Fibroblast growth factor receptor 1
IEP
RGD
PMID:9183688
RGD:8655640
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gfra1
GDNF family receptor alpha 1
IEP
mRNA:increased expression:hypoglossal XII nerve
RGD
PMID:10407179
RGD:6218979
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Il1r1
interleukin 1 receptor type 1
IEP
mRNA:increased expression:hypoglossal nerve
RGD
PMID:11311987
RGD:5037239
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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Mcam
melanoma cell adhesion molecule
IEP
RGD
PMID:10076889
RGD:7364787
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Mme
membrane metallo-endopeptidase
IEP
RGD
PMID:8201016
RGD:13801045
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
IEP
RGD
PMID:7769990
RGD:7327191
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
IEP
RGD
PMID:7769990
RGD:7327191
NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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Ret
ret proto-oncogene
IEP
mRNA:increased expression:hypoglossal XII nerve
RGD
PMID:10407179
RGD:6218979
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Smad1
SMAD family member 1
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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Smad2
SMAD family member 2
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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Smad3
SMAD family member 3
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Smad4
SMAD family member 4
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Smad7
SMAD family member 7
IEP
mRNA:increased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr18:68,988,429...69,016,774
Ensembl chr18:68,988,429...69,016,765
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Smad9
SMAD family member 9
IEP
mRNA:decreased expression:hypoglossal nucleus
RGD
PMID:17166487
RGD:1643227
NCBI chr 2:138,956,326...139,006,315
Ensembl chr 2:138,986,471...139,006,307
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Txnrd1
thioredoxin reductase 1
IEP
mRNA, protein:increased expression:neuron
RGD
PMID:19833109
RGD:5133729
NCBI chr 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
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Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:27528516 PMID:28492532 PMID:28545339 PMID:28559085 PMID:29564393 PMID:29577077 PMID:30689204 PMID:31130284 PMID:32214227 PMID:32449285 PMID:32483926 PMID:32519519 PMID:34056600 PMID:34234304 More...
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar
PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 PMID:29564393 PMID:30689204 PMID:31130284 PMID:32519519 More...
NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Infantile polymyoclonus
ClinVar
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Sobp
sine oculis binding protein homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus
OMIM CTD ClinVar
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532
NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541
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Abcg4
ATP binding cassette subfamily G member 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa4
apolipoprotein A4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoc3
apolipoprotein C3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Arcn1
archain 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Arhgef12
Rho guanine nucleotide exchange factor 12
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
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Atp5mg
ATP synthase membrane subunit G
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
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Bace1
beta-secretase 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Bcl9l
BCL9 like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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C1qtnf5
C1q and TNF related 5
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23127749 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:31106028 PMID:31992737 PMID:32052405 PMID:32118495 PMID:32703043 PMID:32830442 PMID:32996714 PMID:33203948 More...
NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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C2cd2l
C2CD2-like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
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Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Cenatac
centrosomal AT-AC splicing factor
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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Cep164
centrosomal protein 164
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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Cxcr5
C-X-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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Drc12
dynein regulatory complex subunit 12 homolog
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
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Dscaml1
DS cell adhesion molecule-like 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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Foxr1
forkhead box R1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
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Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
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Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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Grik4
glutamate ionotropic receptor kainate type subunit 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
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H2ax
H2A.X variant histone
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
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Hinfp
histone H4 transcription factor
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
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Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Ift46
intraflagellar transport 46
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
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Il10ra
interleukin 10 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Jaml
junction adhesion molecule like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
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Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Mcam
melanoma cell adhesion molecule
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Mfrp
membrane frizzled-related protein
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen CTD Direct Evidence: marker/mechanism DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
OMIM ClinVar CTD RGD
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23127749 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:31106028 PMID:31992737 PMID:32052405 PMID:32118495 PMID:32703043 PMID:32830442 PMID:32996714 PMID:33203948 PMID:19753314 More...
RGD:11553925
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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Mpzl2
myelin protein zero-like 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
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Mpzl3
myelin protein zero-like 3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
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Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Nherf4
NHERF family PDZ scaffold protein 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
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Nlrx1
NLR family member X1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
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Oaf
out at first homolog
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
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Pafah1b2
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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Pcsk7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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Phldb1
pleckstrin homology-like domain, family B, member 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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Pou2f3
POU class 2 homeobox 3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
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Rnf214
ring finger protein 214
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
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Rnf26
ring finger protein 26
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
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Rps25
ribosomal protein s25
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
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Sc5d
sterol-C5-desaturase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
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Scn2b
sodium voltage-gated channel beta subunit 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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Scn4b
sodium voltage-gated channel beta subunit 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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Sidt2
SID1 transmembrane family, member 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sik3
SIK family kinase 3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Slc37a4
solute carrier family 37 member 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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Sorl1
sortilin related receptor 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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Tagln
transgelin
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tbcel
tubulin folding cofactor E-like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
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Tecta
tectorin alpha
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Thy1
Thy-1 cell surface antigen
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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Tlcd5
TLC domain containing 5
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
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Tmem25
transmembrane protein 25
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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Tmprss13
transmembrane serine protease 13
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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Tmprss4
transmembrane serine protease 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Treh
trehalase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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Trim29
tripartite motif-containing 29
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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Ttc36
tetratricopeptide repeat domain 36
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,112,737...45,116,345
G
Ube4a
ubiquitination factor E4A
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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Upk2
uroplakin 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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Usp2
ubiquitin specific peptidase 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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Vps11
VPS11 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
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Six6
SIX homeobox 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Sall4
spalt-like transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders
OMIM CTD ClinVar
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Myh10
myosin heavy chain 10
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
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Ahi1
Abelson helper integration site 1
ISO ISS
DNA:missense mutation, nonsense mutations:exon:multiple ClinVar Annotator: match by term: Joubert syndrome 3 OMIM:608629 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human) DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human) DNA:nonsense mutation:cds:c.910dup (human) DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)
ClinVar MouseDO CTD OMIM RGD
PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16240161 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25558065 PMID:25616960 PMID:25741868 PMID:25741869 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26759440 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:29146704 PMID:29186038 PMID:29343940 PMID:30055837 PMID:31130284 PMID:31624253 PMID:32165824 PMID:32865313 PMID:33879512 PMID:34191236 PMID:34906502 PMID:16155189 PMID:18268248 PMID:21623382 PMID:15322546 PMID:26541515 PMID:16453322 PMID:15467982 PMID:18054307 More...
RGD:1598905 , RGD:11537395 , RGD:11537390 , RGD:11537388 , RGD:11343130 , RGD:11537387 , RGD:1304518 , RGD:11537346
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 3
ClinVar
PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 PMID:25741868 PMID:28492532 More...
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 3
ClinVar
PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Cep290
centrosomal protein 290
ISO ISS
ClinVar Annotator: match by term: Joubert syndrome 5 OMIM:610188 CTD Direct Evidence: marker/mechanism DNA:SNPs:multiple (human) DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:deletions, insertion: :multiple
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27491411 PMID:27848944 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28844315 PMID:28912962 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31456290 PMID:31624253 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32581362 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:35005812 PMID:36729443 PMID:36909829 PMID:36990420 PMID:37510321 PMID:27434533 PMID:17564967 PMID:17617513 PMID:17409309 More...
RGD:329902080 , RGD:329853747 , RGD:11537352 , RGD:7246903
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1
RNA 5'-phosphate and 3'-OH ligase 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 5
ClinVar
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 More...
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Tmem67
transmembrane protein 67
ISO ISS
ClinVar Annotator: match by term: Joubert syndrome 6 OMIM:610688 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutations: :multiple
OMIM ClinVar MouseDO CTD RGD
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28508964 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30055837 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31319225 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32404165 PMID:34006472 PMID:34645491 PMID:34675960 PMID:34964473 PMID:36305856 PMID:36617405 PMID:17160906 More...
RGD:11072184
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Pkd2
polycystin 2, transient receptor potential cation channel
ISO
ClinVar Annotator: match by term: Joubert syndrome 7
ClinVar
PMID:19936001 PMID:25741868 PMID:28492532
NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
G
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Joubert syndrome 7
ClinVar
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
G
Rpgrip1l
Rpgrip1-like
ISO ISS
ClinVar Annotator: match by term: Joubert syndrome 7 OMIM:611560 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutation:exon, intron:multiple
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:20301500 PMID:21866095 PMID:23351400 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 PMID:17960139 More...
RGD:11537350
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Kearns-Sayre syndrome
ClinVar
PMID:20301382
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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Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
ClinVar Annotator: match by term: Kearns-Sayre syndrome
ClinVar
PMID:20301382
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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Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
ClinVar Annotator: match by term: Kearns-Sayre syndrome
ClinVar
PMID:20301382
NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
ClinVar Annotator: match by term: Kearns-Sayre syndrome
ClinVar
PMID:20301382
NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Kearns-Sayre syndrome
ClinVar
PMID:20301382
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mt-nd4l
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
ISO
ClinVar Annotator: match by term: Kearns-Sayre syndrome
ClinVar
PMID:20301382
NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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Mt-nd5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Kearns-Sayre syndrome
ClinVar
PMID:20301382
NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Ppargc1a
PPARG coactivator 1 alpha
ISO
RGD
PMID:23406886
RGD:7241824
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Tfam
transcription factor A, mitochondrial
ISS
OMIM:530000
MouseDO
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Apoa4
apolipoprotein A4
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:18061280
RGD:5685659
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Ephx1
epoxide hydrolase 1
onset
ISO
DNA:missense mutation:cds:p.Y113H (human)
RGD
PMID:15838728
RGD:5688732
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Lrat
lecithin retinol acyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16250670 PMID:17011878
NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
susceptibility
ISO
DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:transition:CDS:c.8668T>C, p.W48R (human)
ClinVar CTD RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 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:16049925 PMID:16217706 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: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:19026397 PMID:20454697 More...
RGD:5490293 , RGD:5508187
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
ClinVar Annotator: match by term: Leber's optic atrophy
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:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Leber's optic atrophy
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:16152638 PMID:17452590 PMID:17659260 PMID:19667215 PMID:19875463 PMID:20301595 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ISO
ClinVar Annotator: match by term: Leber's optic atrophy
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:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mt-co3
mitochondrially encoded cytochrome c oxidase III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:7573056 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 More...
NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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Mt-cyb
mitochondrially encoded cytochrome b
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy
CTD ClinVar
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:11464242 PMID:11601507 PMID:20301353 PMID:23418307 PMID:25741868 PMID:30143805 PMID:32906214 More...
NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.3635G>A (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.L289M (m.4171C>A) (human) DNA:missense mutation:cds:m.3866T>C (p.I187T) (human) DNA:snps:cds:m.4136A>G, m.4160T>C (human) DNA:snp:cds:m.3394T>C (human) DNA:transition:CDS:c.3460G>A, p.A52T (human)
ClinVar CTD RGD
PMID:1417830 PMID:1436530 PMID:1442494 PMID:1539598 PMID:1550128 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:11479733 PMID:12112111 PMID:22577081 PMID:2018041 PMID:19324017 PMID:20454697 More...
RGD:5508685 , RGD:8657118 , RGD:8657116 , RGD:5508712 , RGD:5508689 , RGD:5508187
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Mt-nd2
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2
ISO
DNA:transversion:CDS:c.4852T>A, p.L128Q (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1900003 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:17452590 PMID:19667215 PMID:19875463 PMID:20301353 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:20454697 More...
RGD:5508187
NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
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Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
DNA: mutation ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy
ClinVar RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 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:19458970 More...
RGD:5508703
NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
DNA:mutation:exon:p.R340H(human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:transition:CDS:c.11778G>A (p.R340H) (human) DNA:mutation:exon: 11778G>A DNA:mutation: :m.11696G>A(human)
ClinVar CTD RGD
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1436530 PMID:1469456 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:3201231 PMID:20454697 PMID:18771762 PMID:19022198 PMID:12436196 PMID:16364244 More...
RGD:1581057 , RGD:5508187 , RGD:5507829 , RGD:5491183 , RGD:1581059 , RGD:1581058
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mt-nd4l
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L
ISO
DNA:missense mutation:cds:m.10680G>A (p.A71T) (human) ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar CTD RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 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:19394449 PMID:11935318 More...
RGD:5686339 , RGD:5686341
NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
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Mt-nd5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy CTD Direct Evidence: marker/mechanism DNA:mutation: :m.13708G>A (human) DNA:mutation:exon:13042G>A (A236T) (human) DNA:mutation:exon:p.Y159H(human) DNA:mutation:: m.12338 T>C
ClinVar CTD RGD
PMID:1417830 PMID:1436530 PMID:1539598 PMID:1550128 PMID:1732158 PMID:1764087 PMID:1900003 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8213825 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:11938446 PMID:12509858 PMID:12736867 PMID:14998933 PMID:15767514 PMID:16240359 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:16240359 PMID:1732158 PMID:16816025 PMID:19022198 PMID:21131053 More...
RGD:1581060 , RGD:5507826 , RGD:5491202 , RGD:5491183 , RGD:5491172
NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO ISS
DNA:SNP, haplotypes: :m.14484T>C (human) OMIM:535000 ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia CTD Direct Evidence: marker/mechanism DNA:mutation: :m.13997G>A (p.P25L) (mouse) DNA:missense mutations, haplotypes:cds:multiple DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
MouseDO ClinVar CTD RGD
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 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...
RGD:8657119 , RGD:8657127 , RGD:8657125 , RGD:8657123
NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
ClinVar Annotator: match by term: Leber optic atrophy
ClinVar
PMID:25741868
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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Parl
presenilin associated, rhomboid-like
no_association
ISO
DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human)
RGD
PMID:20407791 PMID:20711738
RGD:12902617 , RGD:12902618
NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
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Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: Leber optic atrophy CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:32516135
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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Rdh12
retinol dehydrogenase 12
ISO
RGD
PMID:15322982
RGD:1599415
NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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Rp1
RP1, axonemal microtubule associated
ISO
ClinVar Annotator: match by term: Leber optic atrophy
ClinVar
PMID:28492532
NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
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Rpe65
retinoid isomerohydrolase RPE65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16828753 PMID:17011878
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Rpgrip1
RPGR interacting protein 1
ISO
RGD
PMID:11283794
RGD:1599580
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Sod2
superoxide dismutase 2
treatment
ISO
RGD
PMID:15293270 PMID:12601034
RGD:8158101 , RGD:8158104
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tp53
tumor protein p53
onset
ISO
DNA:polymorphism:cds:p.R72P(human)
RGD
PMID:15838728
RGD:5688732
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Mt-nd3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
ClinVar Annotator: match by term: Dystonia familial, with visual failure and striatal lucencies
ClinVar
PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868
NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
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Ndufs2
NADH:ubiquinone oxidoreductase core subunit S2
ISO
ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2
OMIM ClinVar
PMID:25741868 PMID:28031252
NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
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Dnajc30
DnaJ heat shock protein family (Hsp40) member C30
ISO
ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to
ClinVar
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:37579815 More...
NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to
ClinVar
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 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...
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Prickle3
prickle planar cell polarity protein 3
ISO
OMIM
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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Ndufaf5
NADH:ubiquinone oxidoreductase complex assembly factor 5
ISO
ClinVar Annotator: match by term: Leber plus disease
ClinVar
PMID:25741868
NCBI chr 3:127,507,931...127,537,477
Ensembl chr 3:127,507,941...127,537,477
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Prickle3
prickle planar cell polarity protein 3
ISS
MouseDO
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
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Adrb1
adrenoceptor beta 1
susceptibility
ISO
DNA:polymorphism:cds:p.R389G(human)
RGD
PMID:16785856
RGD:8548468
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:16778644
RGD:7495800
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bdnf
brain-derived neurotrophic factor
ISO
protein:increased expression:tear:
RGD
PMID:19861219
RGD:8655604
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cav1
caveolin 1
no_association
ISO
DNA:SNP:promoter:rs4236601 (human)
RGD
PMID:23743525
RGD:8661774
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cav2
caveolin 2
susceptibility
ISO
DNA:SNP: :rs1052990 (human)
RGD
PMID:23743525
RGD:8661774
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
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Crp
C-reactive protein
no_association
ISO
protein:increased expression:plasma:
RGD
PMID:16148587 PMID:22966842
RGD:9491770 , RGD:9491771
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Edn1
endothelin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:21946544
RGD:8661736
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Hspd1
heat shock protein family D (Hsp60) member 1
IDA
RGD
PMID:20858111
RGD:10402863
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Myoc
myocilin
susceptibility
ISO
DNA:Haplotype: :
RGD
PMID:16148883
RGD:7771548
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Optn
optineurin
susceptibility
ISO ISS
DNA:SNPs:exon,introns: DNA:polymorphism:exon:p.M98K(human) DNA:polymorphisms, haplotype:exons:c.412G>A,603T>A(human)
MouseDO RGD
PMID:16148883 PMID:15226658 PMID:15557444
RGD:7771548 , RGD:7775043 , RGD:7775041
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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Slc1a1
solute carrier family 1 member 1
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:28703795
NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
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Slc1a3
solute carrier family 1 member 3
ISS
OMIM:606657
MouseDO
NCBI chr 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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Sod1
superoxide dismutase 1
ISO ISS
protein:decreased expression:serum (human) OMIM:606657
MouseDO RGD
PMID:21421868
RGD:8655579
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tlr4
toll-like receptor 4
susceptibility no_association
ISO
DNA:polymorphism,haplotype:multiple: DNA:polymorphisms:multiple:
RGD
PMID:22831837 PMID:21921986
RGD:7794768 , RGD:7794769
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
ISO
DNA:polymorphism, haplotype:promoter: -863C>A (human)
RGD
PMID:15557444
RGD:7775041
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
susceptibility
ISO
DNA:polymorphism:cds:p.R72P(rs1042522)(human)
RGD
PMID:20357201
RGD:7387247
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Apoh
apolipoprotein H
ISO
associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous:
RGD
PMID:16080911
RGD:2315548
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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Ccl2
C-C motif chemokine ligand 2
severity
ISO
associated with Diabetic Retinopathy;protein:increased expression:vitreous humor associated with Retinal Vein Occlusion;protein:increased expression:vitreous humor (human)
RGD
PMID:19118698 PMID:22066978
RGD:2306981 , RGD:7829760
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Clu
clusterin
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor
RGD
PMID:23568601
RGD:9068396
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Epo
erythropoietin
severity
ISO
RGD
PMID:20664492
RGD:10400883
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Fgf2
fibroblast growth factor 2
ISO
associated with Diabetes Mellitus;protein:increased expression:aqueous humor
RGD
PMID:17505145
RGD:8655594
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Flt1
Fms related receptor tyrosine kinase 1
ISO
associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor:
RGD
PMID:24894397
RGD:10402117
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
associated with central retinal vein occlusion;mRNA:increased expression:aqueous humor of eyeball (human)
RGD
PMID:35799735
RGD:155582223
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il6
interleukin 6
ISO
associated with Retinal vein occlusion;protein:increased expression:vitreous: associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)
RGD
PMID:22066978 PMID:35799735
RGD:7829760 , RGD:155582223
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kdr
kinase insert domain receptor
ISO
associated with retinal vein occlusion;protein:increased expression:vitreous humor
RGD
PMID:23411880
RGD:8549772
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Mir210
microRNA 210
ISO
associated with central retinal vein occlusion;miRNA:increased expression:aqueous humor of eyeball (human)
RGD
PMID:35799735
RGD:155582223
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Ndp
norrin cystine knot growth factor NDP
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29654250
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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Nos3
nitric oxide synthase 3
susceptibility
ISO
associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human)
RGD
PMID:15333482
RGD:7775044
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Serpinf1
serpin family F member 1
treatment
ISO
associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human) associated with Diabetes Mellitus, Experimental; human protein in a rat model
RGD
PMID:20714746 PMID:21139695
RGD:8554903 , RGD:8655546
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Vegfa
vascular endothelial growth factor A
ISO
associated with retinal vein occlusion;protein:increased expression:vitreous humor associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human) CTD Direct Evidence: marker/mechanism associated with Diabetes Mellitus;protein:increased expression:aqueous humor
CTD RGD
PMID:20577866 PMID:23411880 PMID:35799735 PMID:17505145
RGD:8549772 , RGD:155582223 , RGD:8655594
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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RT1-CE16
RT1 class I, locus CE16
ISO
protein:increased expression:peripheral blood (human)
RGD
PMID:32045706
RGD:329961316
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 PMID:36250278 More...
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
OMIM CTD ClinVar
PMID:23313956 PMID:25741868 PMID:28097321 PMID:28492532 PMID:28711739
NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
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Milr1
mast cell immunoglobulin-like receptor 1
ISO
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
ClinVar
PMID:25741868 PMID:28492532 PMID:31778857
NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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Polg2
DNA polymerase gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31778857
NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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Adamts8
ADAM metallopeptidase with thrombospondin type 1 motif, 8
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
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Amh
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
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Bcdin3d
BCDIN3 domain containing RNA methyltransferase
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:28492532
NCBI chr 7:130,605,540...130,610,134
Ensembl chr 7:130,605,541...130,610,115
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Cdh11
cadherin 11
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
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Garin4
golgi associated RAB2 interactor family member 4
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr13:102,742,988...102,745,168
Ensembl chr13:102,742,988...102,745,168
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Hecw2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868
NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
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Hspb7
heat shock protein family B (small) member 7
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266
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Ints6l
integrator complex subunit 6 like
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr X:134,258,117...134,325,706
Ensembl chr X:134,258,125...134,309,617
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Kbtbd7
kelch repeat and BTB domain containing 7
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr15:54,806,878...54,811,457
Ensembl chr15:54,806,873...54,811,687
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Mrpl28
mitochondrial ribosomal protein L28
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581
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Plcb2
phospholipase C, beta 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
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Plxnd1
plexin D1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Ptch2
patched 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:28492532 PMID:28915250
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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Sim1
SIM bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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Zfp787
zinc finger protein 787
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 1:67,745,702...67,771,132
Ensembl chr 1:67,758,757...67,771,132
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Neurodegeneration with ataxia and late-onset optic atrophy
OMIM ClinVar
PMID:8967754 PMID:10746566 PMID:10976639 PMID:16199547 PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24033266 PMID:24781757 PMID:25394176 PMID:25494863 PMID:25525159 PMID:25720320 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26556299 PMID:26689913 PMID:27011036 PMID:27683039 PMID:27683074 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28724664 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30050099 PMID:30068732 PMID:30854332 PMID:30877234 PMID:31368675 PMID:31413764 PMID:31589614 PMID:31827275 PMID:31981491 PMID:32581362 PMID:32782288 PMID:32971818 PMID:33077847 PMID:33372952 PMID:33397043 PMID:33674644 PMID:33854214 PMID:33960148 PMID:34750850 PMID:35014173 PMID:35059314 PMID:35441217 More...
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Adam17
ADAM metallopeptidase domain 17
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Cpsf3
cleavage and polyadenylation specific factor 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
OMIM ClinVar
PMID:25741868
NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
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Iah1
isoamyl acetate hydrolyzing esterase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,865,530...40,872,747
Ensembl chr 6:40,865,502...40,872,978
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Ywhaq
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273
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Aqp4
aquaporin 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
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Cd59b
CD59b molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nefh
neurofilament heavy chain
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Ace
angiotensin I converting enzyme
onset
ISO
DNA:insertion/deletion:intron
RGD
PMID:21633717
RGD:8548899
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Crp
C-reactive protein
ISO
protein:increased expression:blood:
RGD
PMID:15206651
RGD:9491785
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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F5
coagulation factor V
ISO
DNA:missense mutation:cds:p.R506Q (1691G>A) (human)
RGD
PMID:15043529
RGD:7394764
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OPTIC NEUROPATHY, ANTERIOR ISCHEMIC, SUSCEPTIBILITY TO
CTD OMIM ClinVar
PMID:12038791 PMID:18492106 PMID:25741868 PMID:28748566 PMID:29232918
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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Itgb3
integrin subunit beta 3
susceptibility
ISO
DNA:polymorphism: :
RGD
PMID:20162297
RGD:8693343
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism: :677C>T(human)
RGD
PMID:20162297
RGD:8693343
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Dnajc30
DnaJ heat shock protein family (Hsp40) member C30
ISO
ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 PMID:37579815 More...
NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
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Klb
klotho beta
ISO
ClinVar Annotator: match by term: Ocular motility disease
ClinVar
PMID:25741868
NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:increased expression:motor neuron
RGD
PMID:21456016
RGD:5684341
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Ackr3
atypical chemokine receptor 3
ISO
ClinVar Annotator: match by term: Oculomotor-abducens synkinesis
OMIM ClinVar
PMID:31211835
NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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Hif1a
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:neuroblastoma (human)
RGD
PMID:18431543
RGD:8694471
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313956
NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: External ophthalmoplegia
ClinVar
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21273508
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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Myf5
myogenic factor 5
ISO
ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies
OMIM ClinVar
PMID:10844060 PMID:25741868 PMID:29887215
NCBI chr 7:42,802,946...42,806,177
Ensembl chr 7:42,802,946...42,806,177
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1318289
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Scnn1b
sodium channel epithelial 1 subunit beta
ISO
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome
ClinVar
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome
ClinVar
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868 PMID:26539208 PMID:29181157 PMID:32219868
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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Cyria
CYFIP related Rac1 interactor A
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:32581362
NCBI chr 6:35,045,208...35,150,669
Ensembl chr 6:35,045,208...35,150,668
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Ddx1
DEAD-box helicase 1
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:32581362
NCBI chr 6:35,996,469...36,027,340
Ensembl chr 6:35,996,469...36,027,365
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Dnm1l
dynamin 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17460227
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Mecr
mitochondrial trans-2-enoyl-CoA reductase
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:31137067 PMID:31160820 PMID:32313153 PMID:32445240 PMID:34052969 PMID:37734847 More...
NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:28027978
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:32581362
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Ndufs3
NADH:ubiquinone oxidoreductase core subunit S3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14729820
NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
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Nmnat1
nicotinamide nucleotide adenylyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842229
NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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Oat
ornithine aminotransferase
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868
NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO ISS
DNA:splice-site mutation, insertion:intron:c.579_580insTT, c.871-1G>T (human) ClinVar Annotator: match by term: Optic atrophy OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
ClinVar MouseDO RGD
PMID:11440988 PMID:12036970 PMID:19112530 PMID:19319978 PMID:19969356 PMID:20157015 PMID:20952381 PMID:22433900 PMID:25012220 PMID:25205859 PMID:25741868 PMID:26400325 PMID:28492532 PMID:34242285 PMID:16735988 More...
RGD:7800714
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Rpl24
ribosomal protein L24
ISS
OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708
MouseDO
NCBI chr11:44,653,937...44,659,346
Ensembl chr11:44,653,937...44,659,370
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Rtn4ip1
reticulon 4 interacting protein 1
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868
NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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Slbp
stem-loop histone mRNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30695021
NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906
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Slc25a46
solute carrier family 25, member 46
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26168012
NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Optic atrophy
ClinVar
PMID:25741868 PMID:33299146
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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Tbcd
tubulin folding cofactor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27666370
NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
DNA:missense mutation:cds:p.R456H (rs1801206) (human)
RGD
PMID:23595122
RGD:8694404
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Opa1
OPA1, mitochondrial dynamin like GTPase
susceptibility
ISO
DNA:nonsense mutation:exon:p.Q285X (mouse) ClinVar Annotator: match by term: Dominant hereditary optic atrophy | ClinVar Annotator: match by term: Kjer-type optic atrophy | ClinVar Annotator: match by term: Optic Atrophy Type 1 | ClinVar Annotator: match by term: Optic Atrophy, Dominant | ClinVar Annotator: match by term: Optic atrophy, juvenile CTD Direct Evidence: marker/mechanism DNA:splice-site mutation:intron:c.1065+5G>A (mouse) DNA:mutations:multiple DNA:duplication:exons, introns:g.194832822_194840568dup (human) DNA:insertions, deletions, missense mutations, nonsense mutation: :multiple DNA:splice-site mutation, nonsense mutation:intron, exon:IVS9-2A>G, c.2197C>T (p.R733X) (human) DNA:deletions, SNPs, insertion/deletion:exons, intron, cds:multiple DNA:SNPs, deletions:exons:multiple
OMIM ClinVar CTD RGD
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9536098 PMID:9917792 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:16513463 PMID:16617242 PMID:16785854 PMID:17167772 PMID:17188070 PMID:17251483 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: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:24798923 PMID:24907432 PMID:24970096 PMID:25012220 PMID:25137924 PMID:25146915 PMID:25146916 PMID:25205859 PMID:25326637 PMID:25564500 PMID:25641387 PMID:25741868 PMID:25794858 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: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:34242285 PMID:34426522 PMID:34732400 PMID:35741767 PMID:37510321 PMID:17428816 PMID:17314202 PMID:23401657 PMID:20546606 PMID:16513463 PMID:19112530 PMID:17306754 PMID:16617242 More...
RGD:7800686 , RGD:7800716 , RGD:7800715 , RGD:7800709 , RGD:7800708 , RGD:7800706 , RGD:7800704 , RGD:7800699
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Optic Atrophy, Dominant
ClinVar
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
DNA:missense mutations, deletion:multiple
RGD
PMID:21538838
RGD:7800683
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Rtn4ip1
reticulon 4 interacting protein 1
ISO
ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 PMID:31077085 More...
NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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Yme1l1
YME1-like 1 ATPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Optic atrophy 11
OMIM CTD ClinVar
PMID:25741868 PMID:27495975 PMID:28492532
NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
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Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Optic atrophy 12
OMIM ClinVar
PMID:25741868 PMID:26467025 PMID:26539208 PMID:26633542 PMID:28492532 PMID:29181157 PMID:32219868 PMID:32600459 More...
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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Tubb6
tubulin, beta 6 class V
ISO
ClinVar Annotator: match by term: Optic atrophy 12
ClinVar
PMID:25741868
NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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Ssbp1
single stranded DNA binding protein 1
ISO
ClinVar Annotator: match by term: Optic atrophy 13 with retinal and foveal abnormalities
OMIM ClinVar
PMID:25741868 PMID:31298765 PMID:31550237 PMID:31550240 PMID:36909829
NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135
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Mief1
mitochondrial elongation factor 1
ISO
ClinVar Annotator: match by term: Optic atrophy 14
OMIM ClinVar
PMID:33632269
NCBI chr 7:111,786,630...111,802,220
Ensembl chr 7:111,786,709...111,802,220
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Mcat
malonyl-CoA-acyl carrier protein transacylase
ISO
ClinVar Annotator: match by term: Optic atrophy 15
OMIM ClinVar
PMID:33918393
NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542
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Mecr
mitochondrial trans-2-enoyl-CoA reductase
ISO
ClinVar Annotator: match by term: Optic atrophy 16
OMIM ClinVar
PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 PMID:37734847 More...
NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
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Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Optic atrophy 2
ClinVar
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 PMID:28081242 PMID:28492532 PMID:32855858 PMID:32883240 More...
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Optic atrophy 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15635063 PMID:16199547 PMID:20696759 PMID:25741868 PMID:26604000 PMID:26825290 PMID:27145208 PMID:27328748 PMID:28492532 PMID:28969390 PMID:29110115 PMID:30850373 PMID:33644862 PMID:34356170 More...
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Yars2
tyrosyl-tRNA synthetase 2
ISO
ClinVar Annotator: match by term: Optic atrophy 5
ClinVar
PMID:25741868
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Tmem126a
transmembrane protein 126A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy 7
OMIM CTD ClinVar
PMID:19327736 PMID:20405026 PMID:22815638 PMID:25741868 PMID:28492532 PMID:30369941 More...
NCBI chr 1:144,424,481...144,430,730
Ensembl chr 1:144,422,703...144,430,628
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Aco2
aconitase 2
ISO
ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: ACO2-related disorder | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25351951 PMID:25741868 PMID:27528516 PMID:28492532 PMID:30689204 PMID:32449285 PMID:32483926 PMID:32519519 PMID:34056600 PMID:34234304 More...
NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
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Polr3h
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: ACO2-related condition | ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Optic atrophy 9
ClinVar
PMID:25351951 PMID:25741868 PMID:28492532 PMID:32449285 PMID:34056600
NCBI chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778
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Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
ClinVar
PMID:25741868 PMID:30250212
NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Optic nerve aplasia, bilateral
ClinVar
PMID:12721955
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Adamts10
ADAM metallopeptidase with thrombospondin type 1 motif, 10
ISO
DNA:SNP:cd: p.G661R (mouse)
RGD
PMID:36216203
RGD:243065145
NCBI chr 7:14,331,659...14,361,620
Ensembl chr 7:14,331,745...14,361,620
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Ager
advanced glycosylation end product-specific receptor
ISO
associated with Alzheimer Disease;protein:increased expression:optic nerve
RGD
PMID:19277685
RGD:8695971
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Edn1
endothelin 1
ISO
human protein in a rat model
RGD
PMID:18442442
RGD:8661688
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Kars1
lysyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Optic neuropathy
ClinVar
PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 PMID:30311386 PMID:30369941 PMID:31116475 More...
NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Optic neuropathy
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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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Optic neuropathy
ClinVar
PMID:28027978
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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Mt-atp8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
ClinVar Annotator: match by term: Optic neuropathy
ClinVar
PMID:28027978
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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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: Optic nerve disorder
ClinVar
PMID:20301353 PMID:30143805
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Pax6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12721955
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar
PMID:25741868
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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Cx3cr1
C-X3-C motif chemokine receptor 1
onset
ISO
associated with Neurofibromatosis 1
RGD
PMID:23424002
RGD:9491391
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Nf1
neurofibromin 1
susceptibility
ISO
associated with Neurofibromatosis 1; DNA:mutations:5'end: ClinVar Annotator: match by term: Optic nerve glioma
ClinVar RGD
PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 PMID:29483232 PMID:21278392 More...
RGD:12789442
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Sox2
SRY-box transcription factor 2
ISO
ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system
ClinVar
PMID:16932809 PMID:22421044 PMID:25741868 PMID:28492532
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Adcy10
adenylate cyclase 10
IEP
protein:decreased expression:retina
RGD
PMID:22649251
RGD:329347828
NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
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Adnp
activity-dependent neuroprotector homeobox
IDA
RGD
PMID:18414890
RGD:2312783
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Amigo3
adhesion molecule with Ig like domain 3
treatment
IEP
RGD
PMID:23613963
RGD:14390159
NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
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Aqp4
aquaporin 4
IEP
RGD
PMID:20216911
RGD:2326035
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Aqp9
aquaporin 9
IEP
RGD
PMID:20216911
RGD:2326035
NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Arg2
arginase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30618589
NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378
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Atf2
activating transcription factor 2
IEP
RGD
PMID:10366744
RGD:10047417
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Bax
BCL2 associated X, apoptosis regulator
IEP
mRNA:increased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
IEP
mRNA:decreased expression:optic nerve, retina
RGD
PMID:24357921
RGD:10054098
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bdnf
brain-derived neurotrophic factor
treatment
ISO IEP
RGD
PMID:15140649 PMID:9520478 PMID:11050383
RGD:8655584 , RGD:8655637 , RGD:8655586
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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C3
complement C3
IEP
mRNA:increased expression:optic nerve
RGD
PMID:14577867
RGD:5129542
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cdk2
cyclin dependent kinase 2
IEP
mRNA:increased expression:retina
RGD
PMID:16723461
RGD:2293567
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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Cfl1
cofilin 1
treatment
IDA
RGD
PMID:27443501
RGD:11568693
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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Clu
clusterin
IEP
RGD
PMID:14577867
RGD:5129542
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Csf1r
colony stimulating factor 1 receptor
IEP
mRNA:increased expression:retina (rat)
RGD
PMID:20187850
RGD:151665810
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf3
colony stimulating factor 3
treatment
ISO
RGD
PMID:20144610
RGD:11039471
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctsb
cathepsin B
IEP
protein:increased expression:retina (rat)
RGD
PMID:18775855
RGD:2315508
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Edn1
endothelin 1
IEP
protein:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Ednra
endothelin receptor type A
IEP
mRNA:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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Ednrb
endothelin receptor type B
IEP
mRNA:increased expression:retina
RGD
PMID:18600494
RGD:4892579
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Ep300
E1A binding protein p300
IEP ISO
protein:decreased expression:retinal ganglion cell layer (rat) human gene in rat model
RGD
PMID:21705428 PMID:21705428
RGD:7349392 , RGD:7349392
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:14664816
RGD:8554854
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
IEP
mRNA:increased expression:retina
RGD
PMID:33664770
RGD:329951020
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gdnf
glial cell derived neurotrophic factor
IEP
RGD
PMID:15144875
RGD:6218970
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gfra1
GDNF family receptor alpha 1
IEP
RGD
PMID:15144875
RGD:6218970
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Gfra2
GDNF family receptor alpha 2
IEP
RGD
PMID:15144875
RGD:6218970
NCBI chr15:45,941,841...46,033,715
Ensembl chr15:45,941,828...46,033,714
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Hgf
hepatocyte growth factor
treatment
ISO
RGD
PMID:21443522
RGD:8548549
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Igf1r
insulin-like growth factor 1 receptor
IMP IEP
protein: altered activity: eye protein:increased expression:retina:
RGD
PMID:19484445 PMID:23648097
RGD:5686431 , RGD:10046025
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
IEP
RGD
PMID:10366744
RGD:10047417
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
IEP
RGD
PMID:20216911
RGD:2326035
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
mRNA:increased expression:retina
RGD
PMID:12076086
RGD:8662362
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Myrf
myelin regulatory factor
IEP
mRNA:decreased expression: oligodendrocyte
RGD
PMID:29915135
RGD:213230153
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Nampt
nicotinamide phosphoribosyltransferase
treatment
IMP
RGD
PMID:28032230
RGD:13781885
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Ncam1
neural cell adhesion molecule 1
ISO
RGD
PMID:18757519
RGD:2326023
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Nefm
neurofilament medium chain
IEP
RGD
PMID:8501527
RGD:9743936
NCBI chr15:42,360,449...42,365,753
Ensembl chr15:42,360,454...42,365,755
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Neo1
neogenin 1
IEP
protein:increased expression:retina
RGD
PMID:21887516
RGD:9850142
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
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Ngf
nerve growth factor
IEP
protein:increased expression:retina
RGD
PMID:28067793
RGD:402463954
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ngfr
nerve growth factor receptor
IDA
RGD
PMID:20943663
RGD:5508695
NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
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Ntrk1
neurotrophic receptor tyrosine kinase 1
IDA
RGD
PMID:20943663
RGD:5508695
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Ntrk2
neurotrophic receptor tyrosine kinase 2
IDA
RGD
PMID:20357199
RGD:5684908
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Pawr
pro-apoptotic WT1 regulator
IEP
mRNA:increased expression:retina:
RGD
PMID:12836167
RGD:1299297
NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
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Pax6
paired box 6
IEP
protein:increased expression:retina (rat)
RGD
PMID:23297010
RGD:8552379
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pdgfb
platelet derived growth factor subunit B
IEP
protein:decreased expression:nerve fiber:
RGD
PMID:9893812
RGD:10449496
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pecam1
platelet and endothelial cell adhesion molecule 1
IEP
protein:increased expression:optic nerve (rat)
RGD
PMID:22336118
RGD:6767293
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Plau
plasminogen activator, urokinase
IEP
mRNA:increased expression:optic nerve (rat)
RGD
PMID:20798533
RGD:6483802
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Ptpn5
protein tyrosine phosphatase, non-receptor type 5
IEP
protein:increased expression:retina (rat)
RGD
PMID:15555919
RGD:9835027
NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882
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Rhoa
ras homolog family member A
IEP
protein:increased expression, altered localization:retina
RGD
PMID:17534117
RGD:1642826
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Snw1
SNW domain containing 1
IEP
protein:increased expression:retina (rat)
RGD
PMID:25074585
RGD:11035254
NCBI chr 6:107,095,450...107,119,536
Ensembl chr 6:107,095,457...107,119,536
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Tlr4
toll-like receptor 4
ISO
protein:increased expression:optic nerve
RGD
PMID:23103505
RGD:7794777
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnfrsf1a
TNF receptor superfamily member 1A
IEP ISO
RGD
PMID:18552980 PMID:14697498
RGD:7794683 , RGD:8661743
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tradd
TNFRSF1A-associated via death domain
IEP
protein:increased expression: retina
RGD
PMID:18552980
RGD:7794683
NCBI chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638
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Ybx3
Y box binding protein 3
IEP
mRNA:increased expression:retinal ganglion cell
RGD
PMID:11750989
RGD:2311250
NCBI chr 4:165,129,747...165,153,101
Ensembl chr 4:165,129,758...165,153,161
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Aqp4
aquaporin 4
disease_progression
ISO
RGD
PMID:23024849 PMID:22157536
RGD:8696036 , RGD:9685553
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Capn1
calpain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23860028
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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Cat
catalase
treatment
ISO
associated with Encephalomyelitis, Autoimmune, Experimental;
RGD
PMID:18055782
RGD:9068881
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:11966770
RGD:8551840
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cspg4
chondroitin sulfate proteoglycan 4
ISO
associated with Encephalomyelitis, Autoimmune, Experimental;protein:altered expression:optic II nerve
RGD
PMID:20151287
RGD:5686855
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion, haplotype:cds (human)
RGD
PMID:19286687
RGD:5148007
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion, haplotype:cds (human)
RGD
PMID:19286687
RGD:5148007
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Mog
myelin oligodendrocyte glycoprotein
ISO IDA
RGD
PMID:22157536 PMID:23860028
RGD:9685553 , RGD:9685554
NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
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Nefh
neurofilament heavy chain
severity
ISO
protein:increased expression:serum:
RGD
PMID:29085182 PMID:15258226
RGD:27226813 , RGD:27226814
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0602 (human)
RGD
PMID:9006417
RGD:7483596
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
associated with Encephalomyelitis, Autoimmune, Experimental;
RGD
PMID:22167100
RGD:7365050
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Sod2
superoxide dismutase 2
ISO
associated with Encephalomyelitis, Autoimmune, Experimental;
RGD
PMID:17251466 PMID:17251466
RGD:8158052 , RGD:8158052
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 PMID:23188109 PMID:25525159 PMID:25741868 PMID:25920555 PMID:26092869 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29398085 PMID:31091803 PMID:31734136 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cndp1
carnosine dipeptidase 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
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Cngb3
cyclic nucleotide gated channel subunit beta 3
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 PMID:20079539 PMID:25558176 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29769798 More...
NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
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Coq8a
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25558065 PMID:25741868
NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Gpr143
G protein-coupled receptor 143
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:17964524 PMID:25741868 PMID:28492532 PMID:33546218
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Kcnv2
potassium voltage-gated channel modifier subfamily V member 2
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:17896311 PMID:18235024 PMID:18400204 PMID:21882291 PMID:21911584 PMID:23115240 PMID:23885164 PMID:25741868 PMID:28492532 PMID:33546218 More...
NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
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Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868 PMID:28492532 PMID:29286531
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Mip
major intrinsic protein of lens fiber
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
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Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:18327255 PMID:25741868 PMID:28492532 PMID:28497568 PMID:34008892
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Rpgrip1
RPGR interacting protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11283794
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Sgsh
N-sulfoglucosamine sulfohydrolase
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 PMID:22976768 PMID:25741868 PMID:26787381 PMID:28492532 PMID:29023963 PMID:31536183 PMID:32581362 More...
NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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Six6
SIX homeobox 6
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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Tfap2a
transcription factor AP-2 alpha
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:25741868
NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus
ClinVar
PMID:7704033 PMID:7955413 PMID:9163730 PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20861488 PMID:22294196 PMID:24033266 PMID:24721949 PMID:25741868 PMID:25919014 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28976636 PMID:29345414 PMID:31077556 PMID:33223529 PMID:34008892 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Ccdc88a
coiled coil domain containing 88A
ISO
ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome
ClinVar
PMID:25741868 PMID:26917597 PMID:28492532
NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:11701291
RGD:8548849
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: PEHO syndrome
ClinVar
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 PMID:26125038 PMID:26486474 PMID:28492532 PMID:31805580 PMID:33880452 More...
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Znhit3
zinc finger, HIT-type containing 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome
OMIM CTD ClinVar
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081
NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475 Ensembl chr10:69,748,789...69,790,475
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
PMID:25741868
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12389028 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:34134906 PMID:34356170 More...
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Polg
DNA polymerase gamma, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
CTD ClinVar
PMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 PMID:16177225 PMID:17426723 PMID:17980715 PMID:18500570 PMID:18828154 PMID:19307547 PMID:19478085 PMID:20301791 PMID:20513108 PMID:20818383 PMID:21228000 PMID:21670405 PMID:21880868 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22616202 PMID:23448099 PMID:24272679 PMID:25585994 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34782754 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
ClinVar
PMID:12707443 PMID:12872260 PMID:18575922 PMID:18973250 PMID:19084593 PMID:20659899 PMID:24086434 PMID:25741868 PMID:28492532 PMID:28812649 PMID:30496414 More...
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
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Map2k6
mitogen-activated protein kinase kinase 6
ISO
RGD
PMID:12392790
RGD:7495833
NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
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Mapt
microtubule-associated protein tau
onset
ISO
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human) ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1 CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotypes::
OMIM ClinVar CTD RGD
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11756436 PMID:12325083 PMID:12473404 PMID:14595660 PMID:15489396 PMID:15831501 PMID:16157753 PMID:17526496 PMID:19458322 PMID:20561037 PMID:21685912 PMID:22022446 PMID:22723997 PMID:25319522 PMID:25402454 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 PMID:19879020 PMID:15792962 PMID:16839689 More...
RGD:8158095 , RGD:8158100 , RGD:8158099
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Mobp
myelin-associated oligodendrocyte basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
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Nat2
N-acetyltransferase 2
ISO
RGD
PMID:22424094
RGD:8552652
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Ogg1
8-oxoguanine DNA glycosylase
ISO
protein:increased expression:pontine nucleus, neuron
RGD
PMID:15841414
RGD:8657142
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Sod1
superoxide dismutase 1
ISO
protein:increased activity:brain (human)
RGD
PMID:11879807
RGD:8655859
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Srsf2
serine and arginine rich splicing factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25402454
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Stx6
syntaxin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21685912
NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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Tardbp
TAR DNA binding protein
ISO
RGD
PMID:20512649
RGD:5687185
NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
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Tra2b
transformer 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25402454
NCBI chr11:78,788,880...78,807,252
Ensembl chr11:78,788,884...78,807,249
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Mapt
microtubule-associated protein tau
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical PSP | ClinVar Annotator: match by term: Supranuclear palsy, progressive, 1, atypical
CTD OMIM ClinVar
PMID:2273997 PMID:8673924 PMID:9629852 PMID:9641683 PMID:9736786 PMID:9789048 PMID:10100642 PMID:10214944 PMID:10219785 PMID:10627302 PMID:10767321 PMID:10821687 PMID:10932182 PMID:11013246 PMID:11115852 PMID:11255441 PMID:11402146 PMID:11756436 PMID:11912108 PMID:12473404 PMID:15489396 PMID:15831501 PMID:17526496 PMID:19458322 PMID:20561037 PMID:22022446 PMID:22312439 PMID:22723997 PMID:23053136 PMID:25319522 PMID:25466404 PMID:25592136 PMID:25741868 PMID:26220942 PMID:26269332 PMID:26467025 PMID:26519432 PMID:27094865 PMID:27439681 PMID:28268100 PMID:28492532 PMID:30528841 PMID:32843152 More...
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Alpk1
alpha-kinase 1
ISO
ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 PMID:35868845 More...
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic
OMIM CTD ClinVar
PMID:19863561 PMID:29180244
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:28492532 PMID:29180244 PMID:29921932 PMID:31045771 PMID:32581362 PMID:33995405 PMID:35189965 PMID:36703223 More...
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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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
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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:25741868 PMID:28041643 PMID:28492532 PMID:33535056 More...
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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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: Renal dysplasia and retinal aplasia
CTD ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:30108342 PMID:32483926 PMID:33193692 More...
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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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
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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
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Tmem218
transmembrane protein 218
ISS
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
MouseDO
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Renal dysplasia retinal aplasia
ClinVar
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19
WD repeat domain 19
ISO
DNA:missense mutations, frameshift mutations, snp:multiple (human) ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome
ClinVar RGD
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 PMID:33517396 PMID:34529350 PMID:36909829 PMID:23683095 More...
RGD:11552600
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 1
OMIM ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26499951 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:30108342 PMID:32483926 PMID:33193692 More...
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 4 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 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:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27491411 PMID:27854218 PMID:28492532 PMID:28700940 PMID:29127258 PMID:34295353 More...
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 5 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations:exon:multiple
OMIM ClinVar CTD RGD
PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 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:24066033 PMID:24625443 PMID:24674142 PMID:25741868 PMID:25851290 PMID:26274329 PMID:26673778 PMID:26766544 PMID:27624628 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28832562 PMID:29053603 PMID:29068479 PMID:30718709 PMID:32531858 PMID:33535056 PMID:15723066 More...
RGD:11537383
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:28041643 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31091803 PMID:31624253 PMID:31734136 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:34906470 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1
RNA 5'-phosphate and 3'-OH ligase 1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 6
ClinVar
PMID:20683928 PMID:25741868 PMID:28492532
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Adss2
adenylosuccinate synthase 2
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
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Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 PMID:25741868 PMID:28492532 More...
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Catspere
catsper channel auxiliary subunit epsilon
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979
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Cep170
centrosomal protein 170
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:20835237 PMID:22190896 PMID:28492532
NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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Cox20
cytochrome c oxidase assembly factor COX20
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:90,065,900...90,075,386
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Desi2
desumoylating isopeptidase 2
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416
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Hnrnpu
heterogeneous nuclear ribonucleoprotein U
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:20835237 PMID:28492532
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 PMID:22190896 PMID:22626039 PMID:23188109 PMID:23559409 PMID:25640679 PMID:25741868 PMID:26968886 PMID:27486776 PMID:28492532 PMID:31844813 PMID:32432520 PMID:32483926 More...
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Spmip3
sperm microtubule inner protein 3
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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Zbtb18
zinc finger and BTB domain containing 18
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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Wdr19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 8
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 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:34295353 PMID:36909829 More...
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Traf3ip1
TRAF3 interacting protein 1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 9
OMIM ClinVar
PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549
NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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Abca2
ATP binding cassette subfamily A member 2
ISO
ClinVar Annotator: match by term: Ataxia with Dysarthria
ClinVar
PMID:31047799
NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
OMIM ClinVar CTD RGD
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16919951 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17502560 PMID:17846414 PMID:17894835 PMID:17923349 PMID:17950645 PMID:17980715 PMID:18156159 PMID:18195149 PMID:18195151 PMID:18294203 PMID:18321754 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19344718 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20438629 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20837862 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21236670 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21455106 PMID:21484424 PMID:21515089 PMID:21550804 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:24841123 PMID:25025039 PMID:25118206 PMID:25193669 PMID:25281868 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25497598 PMID:25585994 PMID:25660390 PMID:25713120 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26169155 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26607151 PMID:26735972 PMID:26742794 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27290639 PMID:27345795 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27538665 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28206745 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28837072 PMID:28865037 PMID:29029963 PMID:29272804 PMID:29302508 PMID:29341116 PMID:29358615 PMID:29423831 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29913018 PMID:29920680 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30306720 PMID:30369941 PMID:30373890 PMID:30393377 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30860128 PMID:30936349 PMID:30941926 PMID:31085725 PMID:31164858 PMID:31475037 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31669236 PMID:31980526 PMID:32019516 PMID:32042919 PMID:32234506 PMID:32305867 PMID:32391929 PMID:32445240 PMID:32567010 PMID:32613234 PMID:33233646 PMID:33396418 PMID:33434755 PMID:33469851 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33600046 PMID:33683010 PMID:33726816 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35289132 PMID:35307828 PMID:35350396 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 PMID:22616202 PMID:18585914 More...
RGD:8694285 , RGD:8694282
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Prickle2
prickle planar cell polarity protein 2
ISO
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
ClinVar
PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26942291 PMID:26942292 PMID:28166811 PMID:28492532 PMID:29358611 More...
NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824
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Twnk
twinkle mtDNA helicase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CTD ClinVar
PMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:29458409 PMID:30770810 PMID:30799093 PMID:31852434 PMID:32619254 PMID:33095980 PMID:35011763 PMID:35286480 PMID:35982159 More...
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Nbas
NBAS subunit of NRZ tethering complex
ISO
ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20577004 PMID:24033266 PMID:24884844 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 PMID:28031453 PMID:28115293 PMID:28252636 PMID:28425089 PMID:28492532 PMID:28576691 PMID:28629372 PMID:30825388 PMID:31761904 PMID:32768688 PMID:32805445 PMID:32812336 PMID:33042920 PMID:33707149 PMID:34288298 PMID:34386911 More...
NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
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Afg3l2
AFG3 like matrix AAA peptidase subunit 2
onset
ISO
DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) ClinVar Annotator: match by term: Spastic ataxia
ClinVar RGD
PMID:25741868 PMID:22022284
RGD:11532672
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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Ahdc1
AT hook, DNA binding motif, containing 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Amacr
alpha-methylacyl-CoA racemase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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Ampd2
adenosine monophosphate deaminase 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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Apob
apolipoprotein B
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Arsa
arylsulfatase A
ISO
ClinVar Annotator: match by term: Spastic ataxia
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 More...
NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Atp7b
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Spastic ataxia
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...
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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C1h19orf12
similar to human chromosome 19 open reading frame 12
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Cacna1g
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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Cacnb4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 3:36,906,771...37,169,165
Ensembl chr 3:36,910,427...37,168,944
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Ccdc88c
coiled-coil domain containing 88C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555
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Cep290
centrosomal protein 290
ISO
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 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
G
Cln6
CLN6, transmembrane ER protein
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
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Coq4
coenzyme Q4
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...
NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
G
Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
G
Dab1
DAB adaptor protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552
G
Dars2
aspartyl-tRNA synthetase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
G
Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
G
Elovl4
ELOVL fatty acid elongase 4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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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
G
Fa2h
fatty acid 2-hydroxylase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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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
G
Flnc
filamin C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
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
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
G
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
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
G
Hpdl
4-hydroxyphenylpyruvate dioxygenase-like
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:32707086 PMID:33970200
NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
G
Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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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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
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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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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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
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 chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
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 chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
G
Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr12:1,574,387...1,603,735
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...
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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...
NCBI chr 5:135,121,164...135,142,048
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
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
G
Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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
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
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 2:57,755,495...57,830,605
Ensembl chr 2:57,755,497...57,830,605
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
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 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
G
Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
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
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...
NCBI chr 3:16,076,725...16,138,431
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...
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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
G
Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
G
Ttbk2
tau tubulin kinase 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:107,691,123...107,802,911
Ensembl chr 3:107,697,340...107,803,223
G
Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
G
Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:12955714 PMID:15605410 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:33879153 PMID:34445196 More...
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
G
Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Spastic ataxia 1
ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 More...
NCBI chr 4:158,021,454...158,028,905
G
Vamp1
vesicle-associated membrane protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spastic ataxia 1
OMIM CTD ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 More...
NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
G
Coq4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 PMID:30659264 PMID:31396399 PMID:33704555 PMID:36047608 PMID:38013626 PMID:38014483 More...
NCBI chr 3:13,060,054...13,070,502
Ensembl chr 3:13,060,455...13,068,799
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
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
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
G
Eno3
enolase 3
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,370,531...55,375,921
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 chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
G
Inca1
inhibitor of CDK, cyclin A1 interacting protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr10:55,401,989...55,414,364
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:35961316 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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4
OMIM CTD ClinVar
PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 PMID:26467025 PMID:28492532 PMID:31779033 More...
NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538
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Afg3l2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22022284 PMID:25401298 PMID:25741868 PMID:26454370 PMID:26467025 PMID:27165006 PMID:28492532 PMID:30773800 PMID:31111429 PMID:32219868 PMID:34333379 More...
NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
G
Tubb6
tubulin, beta 6 class V
ISO
ClinVar Annotator: match by term: Spastic ataxia 5
ClinVar
PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532
NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
G
Nkx6-2
NK6 homeobox 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 PMID:30285346 PMID:31509304 PMID:32860008 More...
NCBI chr 1:194,380,149...194,383,533
Ensembl chr 1:194,381,975...194,383,515
G
Chp1
calcineurin-like EF-hand protein 1
ISO
OMIM
NCBI chr 3:106,536,009...106,571,255
Ensembl chr 3:106,536,004...106,571,251
G
Kidins220
kinase D-interacting substrate 220
ISO
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 PMID:28934391 PMID:29667355 More...
NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
G
Fgf14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 27A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 PMID:30017992 PMID:32162847 More...
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Fgf14
fibroblast growth factor 14
ISO
OMIM
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Fgf14
fibroblast growth factor 14
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 OMIM:193003
CTD ClinVar MouseDO
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:194719761 More...
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
G
Itgbl1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar
PMID:25741868
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
G
Klc2
kinesin light chain 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy
OMIM CTD ClinVar
PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532
NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
G
Ahctf1
AT hook containing transcription factor 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
NCBI chr13:91,481,936...91,536,391
Ensembl chr13:91,481,936...91,536,391
G
Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:14710472
RGD:8699500
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
G
Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 PMID:35253369 PMID:36405774 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868 PMID:28492532 PMID:29286531
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:21520333 PMID:23656349 PMID:25741868 PMID:28492532 PMID:29089047 PMID:33471991 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Olfm3
olfactomedin 3
ISO
ClinVar Annotator: match by term: Strabismus, susceptibility to
ClinVar
NCBI chr 2:202,729,610...202,952,120
Ensembl chr 2:202,729,936...202,952,112
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 PMID:20186801 PMID:21590266 PMID:22465605 PMID:22781091 PMID:23624134 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29493581 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Qars1
glutaminyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474
NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
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Sox5
SRY-box transcription factor 5
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Tp53
tumor protein p53
IEP
RGD
PMID:22977862
RGD:8547771
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Aif1
allograft inflammatory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Cdk5
cyclin-dependent kinase 5
IDA
RGD
PMID:21161138
RGD:13782378
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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Cdk5r1
cyclin-dependent kinase 5 regulatory subunit 1
IEP
RGD
PMID:21161138
RGD:13782378
NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Gabrg1
gamma-aminobutyric acid type A receptor subunit gamma 1
ISS
OMIM:190400
MouseDO
NCBI chr14:37,396,217...37,469,606
Ensembl chr14:37,396,294...37,635,956
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mapk8
mitogen-activated protein kinase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mapk9
mitogen-activated protein kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr10:34,169,661...34,211,138
Ensembl chr10:34,169,675...34,210,178
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Mir125a
microRNA 125a
IEP
RNA:decreased expression: trigeminal ganglion:
RGD
PMID:25380251
RGD:26884456
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
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Prkcg
protein kinase C, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27093858
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:14636287
RGD:9491594
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
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Ascc2
activating signal cointegrator 1 complex subunit 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494
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C14H22orf31
chromosome 14 C22orf31 homolog
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
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Cabp7
calcium binding protein 7
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240
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Ccdc117
coiled-coil domain containing 117
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Emid1
EMI domain containing 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620
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Ewsr1
EWS RNA-binding protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
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Gas2l1
growth arrest-specific 2 like 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438
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Hscb
HscB mitochondrial iron-sulfur cluster co-chaperone
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
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Kremen1
kringle containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
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Mtmr3
myotubularin related protein 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041
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Nefh
neurofilament heavy chain
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO ISS
ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM:101000 DNA:multiple:multiple (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 PMID:7666400 PMID:7711726 PMID:7759081 PMID:7868131 PMID:7913580 PMID:7951231 PMID:8012353 PMID:8081368 PMID:8230593 PMID:8379998 PMID:8566958 PMID:8698340 PMID:8751853 PMID:8755919 PMID:8757035 PMID:8797533 PMID:8882871 PMID:8889506 PMID:9391890 PMID:9425229 PMID:9430655 PMID:9466988 PMID:9536098 PMID:9605590 PMID:9643284 PMID:9718334 PMID:9817921 PMID:9817927 PMID:9884492 PMID:9931334 PMID:10220142 PMID:10691417 PMID:10712203 PMID:10777666 PMID:10970839 PMID:11085592 PMID:11129337 PMID:11448944 PMID:11535133 PMID:11668501 PMID:11756419 PMID:11779178 PMID:11809806 PMID:12118253 PMID:12136076 PMID:12217955 PMID:12566519 PMID:12695331 PMID:12807969 PMID:15598747 PMID:15609345 PMID:15635074 PMID:15645494 PMID:15684865 PMID:15692946 PMID:16199547 PMID:16509493 PMID:16532029 PMID:16983642 PMID:17222329 PMID:17330926 PMID:17576681 PMID:17607601 PMID:18033041 PMID:18173316 PMID:18554169 PMID:18670066 PMID:18766994 PMID:19234911 PMID:19249154 PMID:19451225 PMID:19924781 PMID:19968670 PMID:20553997 PMID:20831745 PMID:21294614 PMID:21563229 PMID:21671232 PMID:21906157 PMID:22012890 PMID:22081132 PMID:22295085 PMID:22325036 PMID:22703879 PMID:22711605 PMID:23196945 PMID:23348505 PMID:23354516 PMID:23921927 PMID:24030433 PMID:24033266 PMID:24309211 PMID:24595234 PMID:24728327 PMID:24815379 PMID:25326635 PMID:25525159 PMID:25567352 PMID:25640679 PMID:25741868 PMID:25798586 PMID:25893302 PMID:25931164 PMID:26031996 PMID:26045165 PMID:26066488 PMID:26073919 PMID:26332594 PMID:26343386 PMID:26407091 PMID:26467025 PMID:27128293 PMID:27600092 PMID:27704245 PMID:27854218 PMID:27930734 PMID:28365909 PMID:28492532 PMID:28526081 PMID:28737257 PMID:28873162 PMID:29316957 PMID:29409008 PMID:29489754 PMID:29625052 PMID:29641532 PMID:29685074 PMID:29761250 PMID:29781505 PMID:30306255 PMID:30594554 PMID:30833958 PMID:31089872 PMID:31273341 PMID:31370276 PMID:31712784 PMID:32191290 PMID:32373528 PMID:32724039 PMID:33058421 PMID:33067351 PMID:33606809 PMID:35264596 PMID:35449021 PMID:28365909 PMID:29409008 More...
RGD:151708708 , RGD:151708704
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Nipsnap1
nipsnap homolog 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098
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Rasl10a
RAS-like, family 10, member A
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468
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Rhbdd3
rhomboid domain containing 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
RGD
PMID:28365909
RGD:151708708
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Thoc5
THO complex subunit 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718
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Uqcr10
ubiquinol-cytochrome c reductase, complex III subunit X
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:20406973 PMID:19587327
RGD:8547955 , RGD:8547957
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xbp1
X-box binding protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Zmat5
zinc finger, matrin type 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594
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Znrf3
zinc and ring finger 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485
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Adrb2
adrenoceptor beta 2
IEP
mRNA:increased expression:Vestibulocochlear nerve:
RGD
PMID:22178544
RGD:8548530
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Rab18
RAB18, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
CTD ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747
NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Warburg micro syndrome
CTD ClinVar
PMID:28492532
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Tbc1d20
TBC1 domain family, member 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Rab3gap1
RAB3 GTPase activating protein catalytic subunit 1
ISO
ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1
OMIM ClinVar
PMID:8249951 PMID:9536098 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:31319225 PMID:32740904 PMID:32870266 PMID:33951304 More...
NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2
OMIM ClinVar
PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29300443 PMID:32740904 PMID:32870266 More...
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Rab18
RAB18, member RAS oncogene family
ISO ISS
OMIM:614222 ClinVar Annotator: match by term: Warburg micro syndrome 3
OMIM MouseDO ClinVar
PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443
NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043
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Tbc1d20
TBC1 domain family, member 20
ISO ISS
OMIM:615663 ClinVar Annotator: match by term: Warburg micro syndrome 4
OMIM MouseDO ClinVar
PMID:24239381 PMID:25741868 PMID:32740904
NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121
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Zc3h12b
zinc finger CCCH-type containing 12B
ISO
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar
PMID:25741868
NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
OMIM ClinVar
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Mt-nd1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:snp:cds:m.4216T>C (human)
RGD
PMID:9309689
RGD:5490247
NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
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Wfs1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1161832 PMID:10521293 PMID: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:30773290 PMID:30957632 PMID:31567480 PMID:32141364 PMID:33046911 PMID:33763535 PMID:33841295 PMID:33879153 PMID:34404380 PMID:35469785 PMID:9771706 More...
RGD:1599813
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Wfs1
wolframin ER transmembrane glycoprotein
ISO ISS
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM:222300
OMIM ClinVar MouseDO
PMID:1161832 PMID:3387915 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: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:21602428 PMID:21917145 PMID:22226368 PMID:22238590 PMID:22662265 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:24890733 PMID:24909696 PMID:25133958 PMID:25173644 PMID:25211237 PMID:25250959 PMID:25262649 PMID:25326637 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:27068579 PMID:27167055 PMID:27185633 PMID:27395765 PMID:27434582 PMID:27468121 PMID:27617222 PMID:27911912 PMID:27959697 PMID:28432734 PMID:28468959 PMID:28492532 PMID:28502252 PMID:28559085 PMID:28802351 PMID:28870582 PMID:28993341 PMID:29048421 PMID:29183106 PMID:29207974 PMID:29447883 PMID:29529044 PMID:29563951 PMID:29632382 PMID:30014265 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30773290 PMID:30957632 PMID:31264968 PMID:31266054 PMID:31313226 PMID:31343797 PMID:31363008 PMID:31391115 PMID:31521625 PMID:31567480 PMID:31600780 PMID:31604968 PMID:31759989 PMID:31765440 PMID:31850070 PMID:31980526 PMID:32141364 PMID:32179840 PMID:32350710 PMID:32382995 PMID:32567228 PMID:32883240 PMID:32938580 PMID:33046911 PMID:33116287 PMID:33538814 PMID:33763535 PMID:33841295 PMID:33879153 PMID:33980734 PMID:34258273 PMID:34356170 PMID:34404380 PMID:34445196 PMID:34556497 PMID:34737607 PMID:34746052 PMID:34789499 PMID:34803393 PMID:34970515 PMID:35206658 PMID:35452662 PMID:35469785 PMID:35602877 PMID:36208030 PMID:36597107 PMID:36729443 More...
NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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Cisd2
CDGSH iron sulfur domain 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :109G>C (p.E37Q) (human)
OMIM ClinVar CTD RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 PMID:17846994 PMID:19451219 More...
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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Cisd3
CDGSH iron sulfur domain 3
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550
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Pcgf2
polycomb group ring finger 2
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:25741868
NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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Slc9b1
solute carrier family 9 member B1
ISO
ClinVar Annotator: match by term: Wolfram syndrome 2
ClinVar
PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532
NCBI chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
OMIM CTD ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
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Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all