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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:Paralysis
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Accession:DOID:9005246 term browser browse the term
Definition:A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)
Synonyms:exact_synonym: Palsies;   Palsy;   Paralyses;   Plegia;   Plegias;   Todd Paralysis;   Todd's Paralysis;   Todds Paralysis
 primary_id: MESH:D010243;   RDO:0002342
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16122394, PMID:18762355, PMID:21706413, PMID:22952840, PMID:28915354 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:122883, PMID:910611, PMID:1218179, PMID:1734774, PMID:4319258, PMID:4347326, PMID:4362560, PMID:4728581, PMID:5021954, PMID:21228368 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18694773 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7433326 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23547115 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15696051 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pygm glycogen phosphorylase, muscle associated IEP mRNA, protein:decreased expression:skeletal muscle RGD PMID:8769807 RGD:1599993 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:23547115 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24291744 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Unc45b unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17189627 NCBI chr10:70,262,340...70,290,445
Ensembl chr10:70,262,361...70,290,445
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:258501
OMIM
ClinVar
PMID:11668429, PMID:12126933, PMID:15342707, PMID:15902555, PMID:18985435, 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:30311386 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
alternating hemiplegia of childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alternating hemiplegia of childhood
DNA:missense mutations:exon:multiple
CTD
ClinVar
PMID:22842232, PMID:24033266, PMID:24631656, PMID:24431296 RGD:11576279 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
Alternating Hemiplegia of Childhood 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 OMIM
ClinVar
PMID:11439943, PMID:12023326, PMID:14667076, PMID:15174025, PMID:15286158, PMID:17473835, PMID:17877748, PMID:18056581, PMID:18414213, PMID:18957371, PMID:20837964, PMID:21533730, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 ClinVar PMID:25741868 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
Alternating Hemiplegia of Childhood 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Alternating hemiplegia of childhood 2
ClinVar Annotator: match by OMIM:614820
OMIM
ClinVar
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:11061257, PMID:12112218, PMID:15260953, PMID:15390049, PMID:16632466, PMID:17282997, PMID:17516473, PMID:17595045, PMID:18414213, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26467025, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Arthrogryposis, perthes disease, and upward gaze palsy ClinVar
OMIM
PMID:26633546 NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
JBrowse link
autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, 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 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821, PMID:2067633, PMID:2725645, PMID:11431686, PMID:11571332, PMID:11897778, PMID:12073019, PMID:12210792, PMID:12565911, PMID:12872260, PMID:14467368, PMID:14557557, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15534189, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16929381, PMID:16940310, PMID:16943369, PMID:17088268, PMID:17420318, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, 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:20220442, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20981092, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22237560, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22727047, PMID:22863191, PMID:22931735, PMID:22987704, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23545419, PMID:23783014, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25488682, PMID:25585994, PMID:25741868, PMID:25850945, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:26968897, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28901595, PMID:29029963, PMID:29190809, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:29992832, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
ClinVar Annotator: match by OMIM:609283
OMIM
ClinVar
PMID:8644740, PMID:10364542, PMID:10926541, PMID:11756613, PMID:12112115, PMID:25741868, PMID:28492532 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar
OMIM
PMID:1634620, PMID:10522883, PMID:11431692, PMID:12163192, PMID:15668446, PMID:17614277, PMID:19353676, PMID:19513767, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:28812649, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
ClinVar Annotator: match by OMIM:610131
OMIM
ClinVar
PMID:16685652, PMID:21555342, PMID:22155748, PMID:22176657, PMID:23197651, PMID:23596069, PMID:24033266, PMID:25741868, PMID:26123486, PMID:26251896, PMID:27535533, PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
ClinVar Annotator: match by OMIM:613077
OMIM
ClinVar
PMID:19664747, PMID:21646632, PMID:26467025, PMID:28492532, PMID:28812649 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, 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 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO 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:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:12975295, PMID:14557557, PMID:14635118, PMID:14694057, 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:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20601675, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20883824, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22000311, PMID:22006280, 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:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24288107, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25914719, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ClinVar
OMIM
PMID:26094573 NCBI chr 6:47,916,188...47,925,582
Ensembl chr 6:47,916,188...47,925,571
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ClinVar
OMIM
PMID:15907288, PMID:21937588, PMID:25326635, PMID:25741868 NCBI chr19:917,203...939,236
Ensembl chr19:917,203...939,221
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by OMIM:617070
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
ClinVar
OMIM
PMID:11983456, PMID:16908739, PMID:17073823, PMID:17452231, PMID:18205204, PMID:23043144, PMID:25741868, PMID:26874653 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 ClinVar
OMIM
PMID:25741868, PMID:29290614 NCBI chr10:46,980,646...47,018,728
Ensembl chr10:46,981,958...47,018,537
JBrowse link
Bell's palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Bell palsy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
Cayler Cardiofacial Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15493068 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, 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 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia ClinVar PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12297582, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:14557557, PMID:14635118, PMID:14694057, 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:16368709, PMID:16401742, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18195151, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19566497, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21550804, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21824913, PMID:21856450, PMID:21880868, PMID:21993618, PMID:22006280, 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:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25940035, PMID:26095671, PMID:26104464, PMID:26337858, PMID:26357557, PMID:26467025, PMID:26468652, PMID:26557169, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27538604, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
Charcot-Marie-Tooth Disease Type 4A, Axonal Form term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO 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
OMIM
ClinVar
PMID:11743579, PMID:11743580, PMID:12499475, PMID:12566285, PMID:12601710, PMID:12707075, PMID:15805163, PMID:20849849, PMID:21840889, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092, PMID:27686364 NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
JBrowse link
chronic progressive external ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G 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 chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Chronic progressive external ophthalmoplegia ClinVar PMID:10844060, PMID:29887215 NCBI chr 7:49,729,533...49,732,974
Ensembl chr 7:49,729,533...49,732,764
JBrowse link
G 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 PMID:17923349, PMID:11431686, PMID:17420318, PMID:16401742, PMID:12565911, PMID:12975295 RGD:737726, RGD:8694204, RGD:8694183, RGD:8694170, RGD:8694163 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G 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 chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link
G 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 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions ClinVar PMID:12565915, PMID:15792871 RGD:1580622, RGD:1580620 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800, PMID:14680979 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G 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 PMID:16639411, PMID:17272269, PMID:17620490, PMID:18279890, PMID:18971204, PMID:19513767, PMID:20479361, PMID:20659899, PMID:20880070, PMID:25741868, PMID:26467025, PMID:28812649, PMID:11431692 RGD:1600544 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 1
ClinVar
OMIM
PMID:14595441, PMID:15621876, PMID:15621877, PMID:15827546, PMID:18332320, PMID:19551685, PMID:25741868, PMID:28492532, PMID:14595441 RGD:1600402 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by OMIM:602078 OMIM
ClinVar
PMID:11600883 NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
ClinVar Annotator: match by OMIM:600638
OMIM
ClinVar
PMID:2133536, PMID:7724178, PMID:10393037, PMID:12073023, PMID:15223798, PMID:18414213, PMID:20074521, PMID:20829227, PMID:25741868, PMID:30311386 NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by OMIM:135700
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:10922204, PMID:14595441, PMID:15223798, PMID:15621876, PMID:15621877, PMID:15827546, PMID:18332320, PMID:19551685, PMID:25741868 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col25a1 collagen type XXV alpha 1 chain ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM
PMID:25500261 NCBI chr 2:235,515,364...235,705,448
Ensembl chr 2:235,596,123...235,715,057
JBrowse link
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col25a1 collagen type XXV alpha 1 chain ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 2:235,515,364...235,705,448
Ensembl chr 2:235,596,123...235,715,057
JBrowse link
G Kif21a kinesin family member 21A ISO
ISS
ClinVar Annotator: match by term: Congenital fibrosis of the extraocular muscles
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar
MouseDO
NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
G Phox2a paired-like homeobox 2a ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252
JBrowse link
G Tubb3 tubulin, beta 3 class III ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813
JBrowse link
Diabetic Gastroparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos3 nitric oxide synthase 3 IEP mRNA:decreased expression:pyloric antrum (rat) RGD PMID:29071981 RGD:13446417 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
ClinVar Annotator: match by term: Oculomelic amyoplasia
ClinVar Annotator: match by OMIM:108145
OMIM
ClinVar
PMID:1941966, PMID:8423615, PMID:8533802, PMID:11152147, PMID:15103714, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:31680123, PMID:32860008 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
distal hereditary motor neuronopathy type 7A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759
JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:27,895,981...28,004,767
Ensembl chr20:27,954,433...28,002,082
JBrowse link
G LOC100910235 sulfotransferase 1C1-like ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,323,997...4,328,175
Ensembl chr 9:4,324,211...4,327,679
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
ClinVar Annotator: match by OMIM:158580
OMIM
ClinVar
PMID:7420092, PMID:11294660, PMID:23141292, PMID:25741868, PMID:27569547, PMID:28492532 NCBI chr 9:5,294,377...5,330,822
Ensembl chr 9:5,294,381...5,330,815
JBrowse link
G Sult1c2a sulfotransferase family, cytosolic, 1C, member 2a ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,152,588...4,168,355
Ensembl chr 9:4,152,589...4,168,221
JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia ClinVar PMID:28492532 NCBI chr 9:4,931,038...4,978,847
Ensembl chr 9:4,930,818...4,978,892
JBrowse link
distal hereditary motor neuronopathy type 7B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7B
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, TYPE VIIB
OMIM
ClinVar
PMID:12062019, PMID:12627231, PMID:15326253, PMID:16505168, PMID:17824900, PMID:18094236, PMID:18364389, PMID:18812314, PMID:19279216, PMID:19506225, PMID:22777741, PMID:23143281, PMID:24627108, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25635128, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:27573046, PMID:28130640, PMID:28430856, PMID:28492532, PMID:29525180 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Gars glycyl-tRNA synthetase ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:25635128 NCBI chr 4:85,235,122...85,276,085
Ensembl chr 4:85,235,172...85,276,044
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16714318, PMID:18425620, PMID:21715711, PMID:22206013, PMID:26955893, PMID:28492532 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Nefl neurofilament light ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:26467025, PMID:28492532 NCBI chr15:44,799,378...44,803,251
Ensembl chr15:44,799,334...44,804,574
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:16728649, PMID:17564964 NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24776970, PMID:28492532, PMID:29213238 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:24533459 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:28492532 NCBI chr18:57,286,266...57,403,926
Ensembl chr18:57,286,322...57,347,577
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Genetic motor neuron disease ClinVar PMID:20037586, PMID:20037587, PMID:20037588, PMID:20460441, PMID:21336783, PMID:22702953, PMID:24575025, PMID:24789864, PMID:24963089, PMID:25900305, PMID:26110311, PMID:26467025, PMID:26948711, PMID:27751652, PMID:28492532 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION ClinVar
OMIM
PMID:29016863 NCBI chr18:63,130,542...63,140,181
Ensembl chr18:63,130,542...63,140,181
JBrowse link
facial paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Facial palsy ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO associated with Herpes Simplex;mRNA, protein:increased expression:facial VII nucleus RGD PMID:23817985 RGD:8547852 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Facial paralysis ClinVar PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:4327920 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:18829051, PMID:19633821, PMID:25326635, PMID:25741868, PMID:28492532, PMID:32860008 NCBI chr 8:39,892,792...39,923,735
Ensembl chr 8:39,892,792...39,907,478
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 ClinVar
OMIM
PMID:28250456 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
gastroparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20378827 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
hemiplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:10566621 NCBI chr 5:50,362,491...50,393,368
Ensembl chr 5:50,381,244...50,393,367
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:21606396, PMID:23292937, PMID:23861362, PMID:24033266, PMID:24503780, PMID:25741868, PMID:26230511, PMID:26656175, PMID:27153395, PMID:28492532, PMID:30311386 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:1974409, PMID:2269438, PMID:2502917, PMID:7475546, PMID:7627184, PMID:8213821, PMID:8294487, PMID:8544197, PMID:8790604, PMID:9040001, PMID:10636167, PMID:11148530, PMID:11359469, PMID:11933202, PMID:11992489, PMID:12838552, PMID:15146461, PMID:16061944, PMID:16293621, PMID:17427031, PMID:18586596, PMID:19816973, PMID:20816920, PMID:21257328, PMID:21742527, PMID:21745757, PMID:23588557, PMID:24126159, PMID:25741868, PMID:25946768, PMID:27312774, PMID:27717005, PMID:28492532, PMID:30311386 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11804990, PMID:19056759, PMID:22581653, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:11907649, PMID:12920079, PMID:15447792, PMID:17981648, PMID:19170735, PMID:21534946, PMID:21786053, PMID:24033266, PMID:25741868, PMID:26036852, PMID:26408194, PMID:28263784, PMID:30311386 NCBI chr20:9,910,522...9,929,705
Ensembl chr20:9,910,522...9,929,705
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Hemiplegia ClinVar PMID:1401057, PMID:15745925, PMID:17468186, PMID:23512414, PMID:27373559, PMID:27617131, PMID:30240412, PMID:30311386 NCBI chr 6:49,020,918...49,089,855
Ensembl chr 6:49,021,044...49,089,855
JBrowse link
Hereditary Congenital Facial Paresis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24239177 NCBI chr10:84,214,358...84,215,812
Ensembl chr10:84,214,358...84,215,687
JBrowse link
Hereditary Congenital Facial Paresis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxb1 homeo box B1 ISO ClinVar Annotator: match by term: Hereditary congenital facial paresis 3
ClinVar Annotator: match by OMIM:614744
OMIM
ClinVar
PMID:22770981, PMID:25741868, PMID:26007620, PMID:27144914 NCBI chr10:84,214,358...84,215,812
Ensembl chr10:84,214,358...84,215,687
JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis
ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending
ClinVar Annotator: match by OMIM:607225
OMIM
ClinVar
PMID:11586297, PMID:11586298, PMID:12145748, PMID:12509863, PMID:12919135, PMID:16718699, PMID:18523452, PMID:18852346, PMID:23881933, PMID:24315819, PMID:24562058, PMID:25174650, PMID:25363768, PMID:25558820, PMID:25588603, PMID:25741868, PMID:26257771, PMID:26467025, PMID:27601211, PMID:27790088, PMID:28407358, PMID:28430856, PMID:28492532, PMID:28709720, PMID:28832565, PMID:30311386, PMID:32214227 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds: RGD PMID:26026163 RGD:13434921 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Als2 alsin Rho guanine nucleotide exchange factor ALS2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868, PMID:28492532, PMID:28832565 NCBI chr 9:65,961,361...66,034,396
Ensembl chr 9:65,961,346...66,033,871
JBrowse link
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
JBrowse link
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:220,948,318...220,952,349
Ensembl chr 1:220,948,331...220,952,391
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:26467025, PMID:28492532, PMID:28832565, PMID:20613862 RGD:9684952 NCBI chr12:14,161,998...14,175,997 JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:70,612,650...70,620,900
Ensembl chr 7:70,612,103...70,620,890
JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr18:56,180,089...56,186,068
Ensembl chr18:56,180,089...56,186,068
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:24473461 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116, PMID:25741868, PMID:26467025, PMID:27549087, PMID:28492532, PMID:28832565 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr 1:266,451,021...266,464,903
Ensembl chr 1:266,451,021...266,464,903
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:28492532, PMID:28832565, PMID:13680364 RGD:1600602 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 2:84,667,578...84,678,730
Ensembl chr 2:84,667,633...84,678,790
JBrowse link
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:111,063,988...111,116,014
Ensembl chr 8:111,064,049...111,116,014
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
CTD
ClinVar
PMID:18252231, PMID:18855023, PMID:19439420, PMID:19812052, PMID:21541746, PMID:21623769, PMID:22384504, PMID:23812641, PMID:24117163, PMID:24927729, PMID:25326635, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27077743, PMID:27217339, PMID:27879216, PMID:27957547, PMID:28492532, PMID:28832565 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25558065 NCBI chr16:71,090,096...71,120,713
Ensembl chr16:71,090,045...71,118,552
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr 3:113,976,687...113,998,925
Ensembl chr 3:113,976,687...113,998,922
JBrowse link
G Ephb1 Eph receptor B1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:110,376,954...110,813,193
Ensembl chr 8:110,376,954...110,813,000
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr16:69,179,005...69,195,452
Ensembl chr16:69,179,588...69,195,097
JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24033266, PMID:24833714, PMID:27217339, PMID:28017243, PMID:31135052 NCBI chr19:43,545,380...43,596,788
Ensembl chr19:43,545,378...43,596,801
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:222,340,481...222,417,915
Ensembl chr 1:222,344,713...222,350,173
JBrowse link
G Gad1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr 3:56,861,440...56,902,139
Ensembl chr 3:56,861,396...56,902,157
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Dominant
ClinVar PMID:20593214, PMID:23332916, PMID:23332917, PMID:25741868, PMID:26220345, PMID:28832565 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 susceptibility ISO DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
RGD
ClinVar
PMID:11898127, PMID:28832565, PMID:11898127 RGD:1624200, RGD:1624200 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr10:57,309,722...57,322,140
Ensembl chr10:57,309,972...57,317,985
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar PMID:25585697, PMID:25741868, PMID:26410750, PMID:28492532, PMID:28832565, PMID:29159194, PMID:31488895, PMID:32096284, PMID:28362824 RGD:12911231 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kif1c kinesin family member 1C ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24088041, PMID:26633545, PMID:28492532, PMID:28832565 NCBI chr10:57,322,259...57,352,395
Ensembl chr10:57,322,331...57,351,353
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15452312, PMID:18500496, PMID:18853458, PMID:21623771, PMID:25008398, PMID:26467025, PMID:26543653, PMID:28492532, PMID:28832565, PMID:29892902 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 8:110,982,777...111,022,666
Ensembl chr 8:110,982,777...111,022,385
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780, PMID:24361204, PMID:25558065, PMID:28492532, PMID:28832565, PMID:31087512 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 1:222,310,916...222,451,485
Ensembl chr 1:222,310,920...222,451,484
JBrowse link
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532, PMID:28832565 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:26467025, PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603, PMID:15711826, PMID:16267846, PMID:17166836, PMID:17928003, PMID:19091982, PMID:19620182, PMID:20816793, PMID:21419568, PMID:21599812, PMID:22302102, PMID:23850684, PMID:24075313, PMID:24128679, PMID:26467025, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32581362 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD
ClinVar
PMID:20382209, PMID:26467025, PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:15,448,570...15,453,130
Ensembl chr  X:15,348,138...15,453,130
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:19779133, PMID:20852969, PMID:22287014, PMID:23280630, PMID:23497566, PMID:25401298, PMID:25741868, PMID:26467025, PMID:27433545, PMID:28492532, PMID:28832565 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18058631, PMID:23129421, PMID:23881933, PMID:25741868, PMID:26467025, PMID:27790088, PMID:28492532, PMID:28642336, PMID:28832565 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18835492, PMID:19105190, PMID:19438933, PMID:20110243, PMID:22175763, PMID:22237444, PMID:22696581, PMID:24033266, PMID:24833714, PMID:25174650, PMID:25741868, PMID:26467025, PMID:27071356, PMID:27217339, PMID:28492532, PMID:28832565 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Spg21 SPG21 abhydrolase domain containing, maspardin susceptibility ISO RGD PMID:14564668 RGD:1556574 NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23176824 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
JBrowse link
G Wdr48 WD repeat domain 48 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 8:128,577,080...128,610,287
Ensembl chr 8:128,577,080...128,610,287
JBrowse link
G Zfr zinc finger RNA binding protein ISO ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:62,150,251...62,213,048
Ensembl chr 2:62,150,251...62,213,048
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:19917823, PMID:26467025, PMID:28492532, PMID:28832565 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)
ClinVar Annotator: match by OMIM:604187
OMIM
ClinVar
PMID:12355402, PMID:15452312, PMID:16476820, PMID:16489470, PMID:18203753, PMID:18500496, PMID:18853458, PMID:21107874, PMID:21623771, PMID:22552817, PMID:24731568, PMID:25008398, PMID:25741868, PMID:26467025, PMID:26543653, PMID:28492532, PMID:28832565, PMID:29892902, PMID:29908077, PMID:30311386, PMID:15452312, PMID:24939576, PMID:26374131, PMID:25352184, PMID:12355402, PMID:18245137, PMID:22466687 RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061, RGD:12793060 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:80,195,594...80,208,449
Ensembl chr 1:80,195,532...80,208,448
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar NCBI chr 3:113,976,687...113,998,925
Ensembl chr 3:113,976,687...113,998,922
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868, PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:19626676, PMID:22577227, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,065,814...114,075,404
Ensembl chr 3:114,066,840...114,074,803
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:10699187, PMID:26671083, PMID:28492532, PMID:30311386 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
ClinVar Annotator: match by term: Gait disturbance
ClinVar Annotator: match by OMIM:604360
OMIM
ClinVar
PMID:2795747, PMID:16773502, PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18337587, PMID:18361476, PMID:18414213, PMID:18439221, PMID:18586399, PMID:18663179, PMID:18717728, PMID:18835492, PMID:19087158, PMID:19105190, PMID:19194956, PMID:19196735, PMID:19438933, PMID:19513778, PMID:19763152, PMID:20110243, PMID:20301389, PMID:20307669, PMID:20390432, PMID:20571989, PMID:21625935, PMID:22154821, PMID:22175763, PMID:22237444, PMID:22246010, PMID:22406018, PMID:22696581, PMID:23043354, PMID:23121729, PMID:23443022, PMID:23699708, PMID:23733235, PMID:23881933, PMID:24033266, PMID:24090761, PMID:24482476, PMID:24833714, PMID:25059394, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25525159, PMID:25588603, PMID:25741868, PMID:26064709, PMID:26183056, PMID:26374131, PMID:26467025, PMID:26539891, PMID:26556829, PMID:26601740, PMID:26671123, PMID:26742954, PMID:27066562, PMID:27071356, PMID:27077743, PMID:27084228, PMID:27217339, PMID:27256065, PMID:27544499, PMID:27790088, PMID:27884173, PMID:27900367, PMID:27904835, PMID:27957547, PMID:28130640, PMID:28160950, PMID:28492532, PMID:28554332, PMID:28832565, PMID:29246610, PMID:29342275, PMID:29389947, PMID:29525178, PMID:29691679, PMID:29732542, PMID:30311386, PMID:30363882, PMID:30373780, PMID:32214227, PMID:32860008 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,103,011...114,123,293
Ensembl chr 3:114,102,875...114,126,523
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:28369220, PMID:30311386 NCBI chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
ClinVar Annotator: match by OMIM:604805
OMIM
ClinVar
PMID:10677333, PMID:12427890, PMID:22232211, PMID:25741868, PMID:27165006, PMID:28492532 NCBI chr 1:80,195,594...80,208,449
Ensembl chr 1:80,195,532...80,208,448
JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:605280
OMIM
ClinVar
CTD
PMID:10677329, PMID:17420924, PMID:18414213, PMID:18571143, PMID:24033266, PMID:25326637, PMID:28492532, PMID:23466696 RGD:10402832 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 15
ClinVar Annotator: match by term: Spastic paraplegia 15
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:270700
OMIM
ClinVar
PMID:6944241, PMID:11342696, PMID:17661097, PMID:18098276, PMID:18394578, PMID:19805727, PMID:19917823, PMID:23733235, PMID:24088041, PMID:24267886, PMID:24833714, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27217339, PMID:27544497, PMID:28492532 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Spastic paraplegia 17 OMIM
ClinVar
PMID:1674639, PMID:5964029, PMID:14981520, PMID:15732094, PMID:16427281, PMID:16574104, PMID:17387721, PMID:17486577, PMID:18585921, PMID:18790819, PMID:19396477, PMID:20598714, PMID:21750110, PMID:21957196, PMID:22045697, PMID:22474068, PMID:23553728, PMID:24345054, PMID:24604904, PMID:25219579, PMID:25454168, PMID:25487175, PMID:25741868, PMID:26467025, PMID:26815532, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by OMIM:611225 OMIM
ClinVar
PMID:21330303, PMID:23109145 NCBI chr16:69,179,005...69,195,452
Ensembl chr16:69,179,588...69,195,097
JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530, PMID:10417279, PMID:16380909, PMID:18160035, PMID:19328639, PMID:28492532 NCBI chr  X:107,394,468...107,405,564
Ensembl chr  X:107,394,486...107,405,564
JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar Annotator: match by term: Spastic paraplegia 2
OMIM
ClinVar
PMID:1720927, PMID:7522741, PMID:7531827, PMID:8012387, PMID:8320699, PMID:8659540, PMID:8723686, PMID:8956049, PMID:9056547, PMID:9247276, PMID:9427151, PMID:9489796, PMID:9633722, PMID:9634530, PMID:10319885, PMID:10417279, PMID:12601703, PMID:14452137, PMID:14745569, PMID:15712223, PMID:16287154, PMID:16380909, PMID:17438221, PMID:18160035, PMID:18414213, PMID:18470932, PMID:19328639, PMID:19825935, PMID:21679407, PMID:23344956, PMID:23347225, PMID:24139698, PMID:24890387, PMID:25741868, PMID:26125040, PMID:26467025, PMID:27535533, PMID:28366443, PMID:28492532 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348
JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Spastic paraplegia 2
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar PMID:7522741, PMID:7531827, PMID:8012387, PMID:8320699, PMID:8723686, PMID:8956049, PMID:9056547, PMID:9247276, PMID:9427151, PMID:9489796, PMID:9634530, PMID:10417279, PMID:12601703, PMID:14452137, PMID:14745569, PMID:15712223, PMID:16287154, PMID:16380909, PMID:17438221, PMID:18160035, PMID:18414213, PMID:18470932, PMID:19328639, PMID:19825935, PMID:21679407, PMID:23344956, PMID:24139698, PMID:24890387, PMID:25741868, PMID:26125040, PMID:26467025, PMID:27535533, PMID:28366443, PMID:28492532 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530, PMID:10417279, PMID:16380909, PMID:18160035, PMID:19328639, PMID:28492532 NCBI chr  X:107,370,351...107,372,347
Ensembl chr  X:107,370,431...107,372,338
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530, PMID:10417279, PMID:16380909, PMID:18160035, PMID:19328639, PMID:28492532 NCBI chr  X:107,322,077...107,324,054
Ensembl chr 2:102,370,158...102,370,757
Ensembl chr  X:102,370,158...102,370,757
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dstyk dual serine/threonine and tyrosine protein kinase ISO OMIM NCBI chr13:49,195,325...49,243,327
Ensembl chr13:49,195,325...49,243,316
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:23746551, PMID:24103911, PMID:24283893, PMID:25741868, PMID:32214227 NCBI chr 7:70,439,273...70,459,556
Ensembl chr 7:70,452,579...70,459,880
JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd1 DDHD domain containing 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 28, autosomal recessive
ClinVar Annotator: match by OMIM:609340
OMIM
ClinVar
PMID:15786464, PMID:23176821, PMID:28492532 NCBI chr15:19,963,639...20,032,263
Ensembl chr15:19,965,187...20,032,191
JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
DNA:missense mutation: :p.A255V (human)
DNA:missense mutations: :p.A255V, p.R350G (human)
ClinVar Annotator: match by OMIM:610357
OMIM
ClinVar
PMID:16434418, PMID:18414213, PMID:21376300, PMID:21487076, PMID:21820098, PMID:22258533, PMID:24088041, PMID:25133958, PMID:25253658, PMID:25265257, PMID:25326635, PMID:25585697, PMID:25741868, PMID:26077850, PMID:26125038, PMID:26354034, PMID:26410750, PMID:26467025, PMID:26486474, PMID:26633545, PMID:27034427, PMID:27124789, PMID:27681307, PMID:28332297, PMID:28362824, PMID:28492532, PMID:28554332, PMID:28708278, PMID:28708303, PMID:28832565, PMID:28834584, PMID:28835676, PMID:28970574, PMID:29159194, PMID:29590070, PMID:30311386, PMID:30385166, PMID:30564185, PMID:31488895, PMID:31616253, PMID:31805580, PMID:32096284, PMID:32860008, PMID:21487076, PMID:22258533 RGD:12911228, RGD:12911224 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
ClinVar Annotator: match by OMIM:610250
OMIM
ClinVar
PMID:16826527, PMID:18321925, PMID:18644145, PMID:19034539, PMID:20718791, PMID:22703882, PMID:23108492, PMID:23400676, PMID:23812641, PMID:24451228, PMID:24478229, PMID:25025039, PMID:25525159, PMID:25741868, PMID:26201691, PMID:26467025, PMID:26671083, PMID:28362824, PMID:28492532, PMID:29629531, PMID:30373780, PMID:32581362 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:10711710, PMID:11328725, PMID:11702214, PMID:21911583, PMID:22264887, PMID:22995991, PMID:26103963, PMID:27014590, PMID:28118664, PMID:28492532, PMID:30311386 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:21907147, PMID:22499348, PMID:23499752, PMID:24088041, PMID:24123792, PMID:24461907, PMID:25058219, PMID:25288793, PMID:25741868, PMID:25911677, PMID:26060307, PMID:26633545, PMID:27290639, PMID:28058511, PMID:28492532, PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr  X:21,063,487...21,168,750
Ensembl chr  X:21,063,562...21,168,750
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532, PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:10581036, PMID:10947946, PMID:11992753, PMID:12359136, PMID:12794687, PMID:12794688, PMID:15510212, PMID:15516337, PMID:18695252, PMID:20301643, PMID:21781115, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic tetraparesis
ClinVar Annotator: match by term: Spastic paraplegia 33, autosomal dominant
OMIM
ClinVar
PMID:16826525, PMID:18606302, PMID:24668814, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30564185 NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic paraplegia 35 OMIM
ClinVar
PMID:18414213, PMID:19068277, PMID:20104589, PMID:20853438, PMID:22146942, PMID:23745665, PMID:23812641, PMID:24299421, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr19:43,545,380...43,596,788
Ensembl chr19:43,545,378...43,596,801
JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar PMID:26467025, PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar Annotator: match by term: NTE related motor neuron disorder
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:612020
OMIM
ClinVar
PMID:3963113, PMID:8053762, PMID:18313024, PMID:20603202, PMID:24355708, PMID:25133958, PMID:25480986, PMID:25574898, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28559085, PMID:29221171, PMID:30097146, PMID:31048186, PMID:31135245 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
ClinVar Annotator: match by term: Spastic paraplegia 3
ClinVar Annotator: match by OMIM:182600
OMIM
ClinVar
PMID:4684346, PMID:8252041, PMID:11685207, PMID:12112092, PMID:12499504, PMID:12939451, PMID:14607301, PMID:14695538, PMID:15184642, PMID:15477516, PMID:15517445, PMID:15596607, PMID:15742100, PMID:16401858, PMID:16533974, PMID:16537571, PMID:16612642, PMID:17285536, PMID:17321752, PMID:17427918, PMID:17502470, PMID:17992088, PMID:19423133, PMID:19459885, PMID:19652243, PMID:19768483, PMID:20718791, PMID:20816793, PMID:20862796, PMID:20932283, PMID:20947813, PMID:21194679, PMID:21220294, PMID:21321493, PMID:21336785, PMID:21368113, PMID:22552817, PMID:22581552, PMID:23079343, PMID:23108492, PMID:23233086, PMID:23483706, PMID:23999326, PMID:24417445, PMID:24451228, PMID:24482476, PMID:24604904, PMID:25326635, PMID:25454648, PMID:25637064, PMID:25741868, PMID:25741869, PMID:25761634, PMID:26208798, PMID:26467025, PMID:26671083, PMID:28492532, PMID:28736820, PMID:29691679, PMID:29907907, PMID:29980238, PMID:32488064, PMID:32581362, PMID:32860008 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:28492532 NCBI chr 6:92,136,242...92,229,578
Ensembl chr 6:92,136,992...92,229,260
JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc6 baculoviral IAP repeat-containing 6 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,900,763...22,092,484
Ensembl chr 6:21,950,100...22,092,346
JBrowse link
G Dpy30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,296,128...22,316,894
Ensembl chr 6:22,296,128...22,316,894
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,203,502...21,600,441
Ensembl chr 6:21,203,502...21,600,451
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant
ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar Annotator: match by OMIM:182601
OMIM
ClinVar
PMID:9695811, PMID:10493830, PMID:10610178, PMID:10699187, PMID:10980739, PMID:11015453, PMID:11039577, PMID:11087788, PMID:11134375, PMID:11309678, PMID:11704932, PMID:11809724, PMID:11843700, PMID:11985387, PMID:12124993, PMID:12161613, PMID:12202986, PMID:12471215, PMID:12552568, PMID:12736085, PMID:12939659, PMID:14681884, PMID:14732620, PMID:15210521, PMID:15248095, PMID:15326248, PMID:15482961, PMID:15637712, PMID:15667412, PMID:15716377, PMID:15841487, PMID:16009377, PMID:16009769, PMID:16055926, PMID:16240363, PMID:16476945, PMID:16682546, PMID:16788734, PMID:16832076, PMID:17035675, PMID:17098887, PMID:17100993, PMID:17101632, PMID:17345589, PMID:17560499, PMID:17594340, PMID:17597328, PMID:17598600, PMID:17895902, PMID:17916079, PMID:17957230, PMID:17971434, PMID:18190593, PMID:18410514, PMID:18608088, PMID:18613979, PMID:18664244, PMID:18701882, PMID:18975132, PMID:19423133, PMID:19438933, PMID:19453301, PMID:19875132, PMID:20214791, PMID:20301339, PMID:20430936, PMID:20491894, PMID:20550563, PMID:20559269, PMID:20562464, PMID:20665701, PMID:20718791, PMID:20932283, PMID:21546041, PMID:21659953, PMID:22203332, PMID:22552817, PMID:22554690, PMID:22817815, PMID:22960362, PMID:23122959, PMID:23252998, PMID:23279441, PMID:23400676, PMID:23438842, PMID:23833562, PMID:24033003, PMID:24033266, PMID:24215330, PMID:24267886, PMID:24381312, PMID:24451228, PMID:24478365, PMID:24690193, PMID:24731568, PMID:24824479, PMID:25045380, PMID:25065914, PMID:25315759, PMID:25326635, PMID:25326637, PMID:25341883, PMID:25421405, PMID:25454648, PMID:25525159, PMID:25658484, PMID:25741868, PMID:25741869, PMID:26086985, PMID:26094131, PMID:26165777, PMID:26208798, PMID:26374131, PMID:26467025, PMID:26600529, PMID:26671083, PMID:27084228, PMID:27108959, PMID:27260292, PMID:27276562, PMID:27334366, PMID:27688599, PMID:27871443, PMID:27942873, PMID:27957547, PMID:28160950, PMID:28492532, PMID:28495799, PMID:28572275, PMID:29246610, PMID:29389947, PMID:29691679, PMID:29908077, PMID:29934652, PMID:29980238, PMID:30311386, PMID:30520996, PMID:30564185, PMID:31134136 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Ttc27 tetratricopeptide repeat domain 27 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:21,735,833...21,880,008
Ensembl chr 6:21,735,834...21,880,003
JBrowse link
G Yipf4 Yip1 domain family, member 4 ISO ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 6:22,126,870...22,138,286
Ensembl chr 6:22,126,870...22,138,286
JBrowse link
hereditary spastic paraplegia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 42, autosomal dominant
ClinVar Annotator: match by OMIM:612539
OMIM
ClinVar
PMID:19061983, PMID:25402622, PMID:28492532 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar
PMID:20039086, PMID:21981780, PMID:22584950, PMID:23166001, PMID:23269600, PMID:23436634, PMID:23494994, PMID:23857908, PMID:24033266, PMID:24361204, PMID:25558065, PMID:25592411, PMID:25741868, PMID:25962551, PMID:27112773, PMID:28492532, PMID:28641177, PMID:28832565, PMID:30088953, PMID:30392167, PMID:31087512 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein, gamma 2 ISO DNA:missense mutation:cds:p.I33M (human)
ClinVar Annotator: match by OMIM:613206
OMIM
ClinVar
PMID:19056803, PMID:19056803 RGD:13208577 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive
ClinVar Annotator: match by OMIM:613162
OMIM
ClinVar
PMID:19415352, PMID:24482476, PMID:25741868, PMID:28492532, PMID:29123918, PMID:32214227 NCBI chr 1:266,652,966...266,782,935
Ensembl chr 1:266,659,519...266,782,910
JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 46, autosomal recessive
ClinVar Annotator: match by OMIM:614409
OMIM
ClinVar
PMID:20593214, PMID:23332916, PMID:23332917, PMID:24252062, PMID:25741868, PMID:26220345, PMID:28492532, PMID:28832565, PMID:30308956 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by OMIM:614066
OMIM
ClinVar
PMID:18414213, PMID:19559397, PMID:20972249, PMID:21440262, PMID:21620353, PMID:22290197, PMID:23167973, PMID:23472171, PMID:24395635, PMID:24700674, PMID:24781758, PMID:25167861, PMID:25552650, PMID:25693842, PMID:25741868, PMID:26544806, PMID:28492532, PMID:29193663, PMID:30311386 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 48, autosomal recessive
ClinVar Annotator: match by OMIM:613647
OMIM
ClinVar
PMID:20613862, PMID:24033266, PMID:24482476, PMID:24833714, PMID:24926664, PMID:25333062, PMID:25741868, PMID:26085577, PMID:26467025, PMID:27606357, PMID:28492532, PMID:28832565, PMID:32860008 NCBI chr12:14,161,998...14,175,997 JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:135,409,698...135,412,552
Ensembl chr 6:135,410,030...135,412,312
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive OMIM
ClinVar
PMID:23176824, PMID:25590979, PMID:25741868, PMID:26431026, PMID:26542466, PMID:27406698, PMID:28492532, PMID:28940097 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add3 adducin 3 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 ClinVar
OMIM
PMID:23836506 NCBI chr 1:273,854,195...273,961,982
Ensembl chr 1:273,854,248...273,961,982
JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive
ClinVar Annotator: match by OMIM:612936
OMIM
ClinVar
PMID:18414213, PMID:19559397, PMID:21937992, PMID:24700674, PMID:25326635, PMID:25558065, PMID:25741868, PMID:26077850, PMID:28492532, PMID:29096665 NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142
JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4
ClinVar Annotator: match by OMIM:613744
OMIM
ClinVar
PMID:20972249, PMID:21620353, PMID:21937992, PMID:25741868 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4 ClinVar PMID:20972249 NCBI chr 3:119,361,651...119,405,453
Ensembl chr 3:119,361,655...119,405,453
JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive
ClinVar Annotator: match by OMIM:614067
OMIM
ClinVar
PMID:18414213, PMID:21620353, PMID:25552650, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386, PMID:31660686 NCBI chr 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847
JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive
ClinVar Annotator: match by OMIM:614898
OMIM
ClinVar
PMID:22717650, PMID:28492532, PMID:29473047 NCBI chr16:54,860,811...54,899,410
Ensembl chr16:54,860,868...54,899,347
JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive
ClinVar Annotator: match by OMIM:615033
OMIM
ClinVar
PMID:16636240, PMID:23176823, PMID:23486545, PMID:24337409, PMID:24482476, PMID:24517879, PMID:25417924, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32488064 NCBI chr16:71,090,096...71,120,713
Ensembl chr16:71,090,045...71,118,552
JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1563482 similar to hypothetical protein FLJ38663 ISO ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive OMIM
ClinVar
PMID:3479531, PMID:20598281, PMID:23188110, PMID:24080142, PMID:24198383, PMID:24424123, PMID:25326635, PMID:25741868, PMID:26539891, PMID:32581362 NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616
JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive
ClinVar Annotator: match by OMIM:615030
OMIM
ClinVar
PMID:23176821, PMID:25558065, PMID:25741868, PMID:26914923, PMID:28492532, PMID:32860008 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfg trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar
PMID:22883144, PMID:23479643, PMID:23553329, PMID:23806086, PMID:24088041, PMID:24613659, PMID:25725944, PMID:25741868, PMID:26257172, PMID:27492651, PMID:28196470, PMID:28492532, PMID:29971521, PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:270800
OMIM
ClinVar
CTD
PMID:7987300, PMID:9802883, PMID:12874406, PMID:15007371, PMID:18252231, PMID:18855023, PMID:19187859, PMID:19439420, PMID:19812052, PMID:21214876, PMID:21452256, PMID:21541746, PMID:21567895, PMID:21623769, PMID:21966169, PMID:22384504, PMID:23812641, PMID:24033266, PMID:24117163, PMID:24340040, PMID:24519355, PMID:24658845, PMID:24927729, PMID:25326635, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26370385, PMID:26374131, PMID:26467025, PMID:26714052, PMID:27077743, PMID:27217339, PMID:27879216, PMID:27957547, PMID:28492532, PMID:28832565, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar PMID:25741868, PMID:28492532, PMID:29453417 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:21981780, PMID:25741868, PMID:28492532 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
OMIM
ClinVar
PMID:7825577, PMID:14508710, PMID:15643603, PMID:15711826, PMID:16267846, PMID:17166836, PMID:17268193, PMID:17928003, PMID:19091982, PMID:19620182, PMID:20816793, PMID:21419568, PMID:21599812, PMID:22302102, PMID:22378146, PMID:23032108, PMID:23850684, PMID:24075313, PMID:24128679, PMID:25341883, PMID:25689425, PMID:25741868, PMID:26467025, PMID:27084228, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32581362 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,346,005...114,371,907
Ensembl chr 1:114,348,038...114,371,897
JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,186,853...114,222,516
Ensembl chr 1:114,186,853...114,222,516
JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 61, autosomal recessive OMIM
ClinVar
PMID:28492532 NCBI chr 1:187,770,160...187,779,675
Ensembl chr 1:187,770,160...187,779,675
JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by OMIM:615681
ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive
ClinVar
OMIM
PMID:24482476, PMID:28492532 NCBI chr 1:263,810,439...263,845,762
Ensembl chr 1:263,810,439...263,845,762
JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
ClinVar Annotator: match by OMIM:615686
OMIM
ClinVar
PMID:24482476, PMID:25741868, PMID:28492532 NCBI chr 2:210,861,624...210,874,348
Ensembl chr 2:210,861,625...210,874,304
JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by OMIM:615683
ClinVar Annotator: match by term: Spastic paraplegia 64, autosomal recessive
ClinVar
OMIM
PMID:24482476, PMID:25741868, PMID:28492532, PMID:30652007 NCBI chr 1:259,692,020...259,818,922
Ensembl chr 1:259,739,955...259,819,494
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:25741868 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:55,880,549...55,914,729
Ensembl chr19:55,880,561...55,915,502
JBrowse link
hereditary spastic paraplegia 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive OMIM
ClinVar
PMID:24388663, PMID:25741868, PMID:28491902, PMID:28492532 NCBI chr18:27,632,562...27,641,594
Ensembl chr18:27,632,786...27,641,591
JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Spastic paraplegia 73, autosomal dominant OMIM
ClinVar
PMID:25741868, PMID:25751282, PMID:28492532 NCBI chr 1:100,955,094...100,970,579
Ensembl chr 1:100,955,095...100,969,560
JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iba57 iron-sulfur cluster assembly factor IBA57 ISO ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive ClinVar
OMIM
PMID:25609768 NCBI chr10:45,506,124...45,514,909
Ensembl chr10:45,504,504...45,514,878
JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive OMIM
ClinVar
PMID:24482476, PMID:25741868, PMID:26179919, PMID:28492532, PMID:28832565 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
JBrowse link
hereditary spastic paraplegia 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn1 calpain 1 ISO ClinVar Annotator: match by OMIM:616907
ClinVar Annotator: match by term: Spastic paraplegia 76, autosomal recessive
ClinVar
OMIM
PMID:25741868, PMID:27153400, PMID:32214227, PMID:32860008 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar
OMIM
PMID:21234346, PMID:25741868, PMID:25851414, PMID:26553276, PMID:28043061, PMID:28492532, PMID:29126765, PMID:30869852 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668
JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by OMIM:603563
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar Annotator: match by term: Spastic paraplegia 8
ClinVar
OMIM
PMID:17160902, PMID:20833645, PMID:23455931, PMID:24759409, PMID:24824269, PMID:25741868, PMID:26467025, PMID:27957547, PMID:28492532 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by OMIM:601162
OMIM
ClinVar
PMID:8779323, PMID:9973297, PMID:24913064, PMID:25741868, PMID:26026163, PMID:26297558, PMID:28492532, PMID:26297558 RGD:11056004 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive ClinVar
OMIM
PMID:25741868, PMID:26026163, PMID:26297558, PMID:30311386 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
ClinVar Annotator: match by OMIM:615281
OMIM
ClinVar
PMID:23643384, PMID:25741868 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815
JBrowse link
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation
ClinVar Annotator: match by OMIM:614457
OMIM
ClinVar
PMID:22100072, PMID:25326635, PMID:25741868 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: IVIC syndrome
ClinVar Annotator: match by OMIM:147750
OMIM
ClinVar
PMID:17256792, PMID:25741868 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
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
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G 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
Ensembl chr MT:8,599...9,382
JBrowse link
G 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
Ensembl chr MT:9,451...9,798
JBrowse link
G 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
Ensembl chr MT:10,160...11,537
JBrowse link
G 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
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
ClinVar Annotator: match by term: L1 syndrome
ClinVar Annotator: match by term: MASA syndrome
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 1, X-LINKED
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:303350
ClinVar
CTD
OMIM
PMID:1303258, PMID:1870106, PMID:3460961, PMID:7562969, PMID:7881431, PMID:7920659, PMID:7920660, PMID:8062435, PMID:8401576, PMID:8401593, PMID:8826452, PMID:8929944, PMID:9300653, PMID:9610803, PMID:9643285, PMID:9744477, PMID:10469653, PMID:10767310, PMID:11772994, PMID:12725590, PMID:13889294, PMID:16650080, PMID:18136715, PMID:19846429, PMID:20447653, PMID:21271669, PMID:23820807, PMID:25644381, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386, PMID:30712878, PMID:31319225, PMID:31474318, PMID:31680349, PMID:32488064, PMID:7920660, PMID:8786080, PMID:9643285 RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
MAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spg21 SPG21 abhydrolase domain containing, maspardin ISO ClinVar Annotator: match by term: Mast syndrome
ClinVar Annotator: match by OMIM:248900
OMIM
ClinVar
PMID:6024251, PMID:14564668, PMID:24451228, PMID:26467025, PMID:28492532 NCBI chr 8:70,994,531...71,022,302
Ensembl chr 8:70,994,563...71,022,331
JBrowse link
Microcephaly with Spastic Quadriplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Recessive microcephaly with spastic quadriplegia ClinVar PMID:22822038, PMID:25741868, PMID:30178464 NCBI chr18:31,415,533...31,431,108
Ensembl chr18:31,414,250...31,430,973
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES
ClinVar Annotator: match by term: Wieacker syndrome
CTD
ClinVar
OMIM
PMID:1915520, PMID:2018061, PMID:4039531, PMID:23623388, PMID:25741868, PMID:26056227, PMID:28814648, PMID:31206972 NCBI chr  X:64,887,978...64,908,682
Ensembl chr  X:64,887,978...64,908,682
JBrowse link
Minicore Myopathy with External Ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Multiminicore myopathy ClinVar PMID:25741868, PMID:30770808 NCBI chr 2:120,529,716...120,570,356
Ensembl chr 2:120,512,899...120,570,355
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia
ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
ClinVar Annotator: match by term: Minicore myopathy
ClinVar Annotator: match by term: Multiminicore myopathy
ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia
ClinVar Annotator: match by term: Multiminicore Disease
ClinVar Annotator: match by OMIM:255320
OMIM
ClinVar
PMID:16940, PMID:18253, PMID:1743490, PMID:4149045, PMID:7299413, PMID:8661021, PMID:9199552, PMID:9497245, PMID:10097181, PMID:10484775, PMID:11274444, PMID:11575529, PMID:11668625, PMID:11709545, PMID:11741831, PMID:12059893, PMID:12123492, PMID:12136074, PMID:12208234, PMID:12411786, PMID:12411788, PMID:12434264, PMID:12642598, PMID:12709367, PMID:12719381, PMID:14732627, PMID:15175001, PMID:15210166, PMID:15221887, PMID:15448513, PMID:15731587, PMID:16084090, PMID:16163667, PMID:16244001, PMID:16272262, PMID:16372898, PMID:16380615, PMID:16621918, PMID:16732084, PMID:16835904, PMID:16917943, PMID:16940308, PMID:17033962, PMID:17081152, PMID:17226826, PMID:17365175, PMID:17483490, PMID:17710899, PMID:18171678, PMID:18253926, PMID:18414213, PMID:18564801, PMID:18719443, PMID:18765655, PMID:19191329, PMID:19191333, PMID:19223216, PMID:19346234, PMID:19513315, PMID:19648156, PMID:19807743, PMID:19825159, PMID:19931341, PMID:20080402, PMID:20142353, PMID:20583297, PMID:20681998, PMID:20839240, PMID:20888934, PMID:20981092, PMID:21062345, PMID:21157159, PMID:21455645, PMID:21514828, PMID:21674524, PMID:21795085, PMID:21825032, PMID:21911697, PMID:21965348, PMID:22203976, PMID:22415532, PMID:22473935, PMID:22705209, PMID:22734812, PMID:22913516, PMID:22992668, PMID:22995991, PMID:23035052, PMID:23204524, PMID:23329375, PMID:23394784, PMID:23460944, PMID:23476141, PMID:23553484, PMID:23553787, PMID:23558838, PMID:23628358, PMID:23826317, PMID:23919265, PMID:24013571, PMID:24033266, PMID:24055113, PMID:24088041, PMID:24195946, PMID:24215330, PMID:24361844, PMID:24433488, PMID:24561095, PMID:24950660, PMID:24951453, PMID:25084811, PMID:25214167, PMID:25256590, PMID:25326635, PMID:25461839, PMID:25466363, PMID:25476234, PMID:25637381, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25747005, PMID:25957634, PMID:25958340, PMID:25960145, PMID:25985138, PMID:25989378, PMID:26332594, PMID:26467025, PMID:26633545, PMID:26841830, PMID:27005958, PMID:27066551, PMID:27147545, PMID:27153395, PMID:27382027, PMID:27555149, PMID:27663056, PMID:27857962, PMID:28224104, PMID:28259615, PMID:28326467, PMID:28357410, PMID:28403410, PMID:28492532, PMID:28527222, PMID:28687594, PMID:28818389, PMID:29169929, PMID:29172004, PMID:29178655, PMID:29382405, PMID:29635721, PMID:30122538, PMID:30155738, PMID:30236257, PMID:30311386, PMID:30325262, PMID:30611313, PMID:30724636, PMID:30788618, PMID:31055738, PMID:31135626, PMID:31680349 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Multiminicore Disease ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
ClinVar Annotator: match by OMIM:615084
OMIM
ClinVar
PMID:23313956, PMID:25741868, PMID:28492532, PMID:28711739 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
JBrowse link
ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: External ophthalmoplegia ClinVar NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: External ophthalmoplegia ClinVar PMID:10844060, PMID:29887215 NCBI chr 7:49,729,533...49,732,974
Ensembl chr 7:49,729,533...49,732,764
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21273508 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 IEP mRNA:decreased expression:soleus RGD PMID:18236467 RGD:5509082 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213, PMID:25167861, PMID:25741868, PMID:26544806, PMID:28492532 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213, PMID:25552650, PMID:25741868, PMID:27444738, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr 6:72,461,977...72,502,717
Ensembl chr 6:72,461,977...72,503,847
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr12:14,161,998...14,175,997 JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23680767, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Arsi arylsulfatase family, member I ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr18:56,180,089...56,186,068
Ensembl chr18:56,180,089...56,186,068
JBrowse link
G Atg7 autophagy related 7 IEP RGD PMID:23055316 RGD:11557990 NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124
JBrowse link
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8252041, PMID:11685207, PMID:14607301, PMID:15517445, PMID:16537571, PMID:16612642, PMID:17321752, PMID:19652243, PMID:20718791, PMID:20816793, PMID:20932283, PMID:20947813, PMID:23079343, PMID:23233086, PMID:24482476, PMID:25637064, PMID:25741868, PMID:25761634, PMID:26467025, PMID:28492532, PMID:32581362 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23746551, PMID:24103911, PMID:24283893, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:70,439,273...70,459,556
Ensembl chr 7:70,452,579...70,459,880
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:soleus muscle RGD PMID:23055316 RGD:11557990 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22539353, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23176821, PMID:25558065, PMID:25741868, PMID:28492532 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:7987300, PMID:9802883, PMID:15007371, PMID:18252231, PMID:18855023, PMID:19187859, PMID:19439420, PMID:19812052, PMID:21214876, PMID:21541746, PMID:21567895, PMID:21623769, PMID:21966169, PMID:22384504, PMID:23812641, PMID:24033266, PMID:24117163, PMID:24340040, PMID:24482476, PMID:24519355, PMID:24641183, PMID:24658845, PMID:24927729, PMID:25326635, PMID:25326637, PMID:25525159, PMID:25741868, PMID:26370385, PMID:26467025, PMID:26714052, PMID:27077743, PMID:27217339, PMID:27879216, PMID:27957547, PMID:28492532, PMID:28832565, PMID:29126212, PMID:29482223, PMID:29980238, PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213, PMID:25741868, PMID:28492532, PMID:28832565, PMID:30564185 NCBI chr16:69,179,005...69,195,452
Ensembl chr16:69,179,588...69,195,097
JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213, PMID:18463364, PMID:20104589, PMID:20853438, PMID:22146942, PMID:22925154, PMID:23566484, PMID:23812641, PMID:24299421, PMID:25741868, PMID:26467025, PMID:27217339, PMID:27316240, PMID:28492532, PMID:29980238 NCBI chr19:43,545,380...43,596,788
Ensembl chr19:43,545,378...43,596,801
JBrowse link
G Foxo4 forkhead box O4 IEP protein:increased expression:skeletal muscle: RGD PMID:18236467 RGD:5509082 NCBI chr  X:71,155,284...71,162,158
Ensembl chr  X:71,155,601...71,162,158
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23332917, PMID:25741868, PMID:26220345, PMID:28492532, PMID:29453417 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8733901, PMID:15192806, PMID:18094336, PMID:20513814, PMID:20695017, PMID:21246605, PMID:21959080, PMID:22351697, PMID:22833003, PMID:23142375, PMID:24374284, PMID:25741868, PMID:27057822, PMID:27780564, PMID:28492532, PMID:29276893 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:17420924, PMID:18414213, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213, PMID:22326837, PMID:23356856, PMID:23757202, PMID:24583395, PMID:25666439, PMID:25741868, PMID:25801821, PMID:26467025, PMID:26934580, PMID:28492532 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:24088041, PMID:25265257, PMID:25326635, PMID:25741868, PMID:26125038, PMID:26354034, PMID:26633545, PMID:28492532, PMID:28554332, PMID:28834584 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15452312, PMID:16476820, PMID:16489470, PMID:18203753, PMID:18500496, PMID:18853458, PMID:21107874, PMID:21623771, PMID:22552817, PMID:24731568, PMID:25008398, PMID:25352184, PMID:25695920, PMID:25741868, PMID:26467025, PMID:26543653, PMID:27084214, PMID:27414745, PMID:28362824, PMID:28492532, PMID:28832565, PMID:29342275, PMID:29566793, PMID:29892902, PMID:29908077, PMID:29954873, PMID:30311386, PMID:30778698 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:7562969, PMID:7762552, PMID:7920659, PMID:8062435, PMID:8069317, PMID:8826452, PMID:9195224, PMID:9300653, PMID:9610803, PMID:9744477, PMID:10469653, PMID:10767310, PMID:10797421, PMID:11438988, PMID:11772994, PMID:12725590, PMID:15148591, PMID:15555929, PMID:18414213, PMID:19617634, PMID:19641926, PMID:19846429, PMID:20447653, PMID:22973895, PMID:23820807, PMID:25666757, PMID:25741868, PMID:26467025, PMID:26891472, PMID:28492532, PMID:29960101, PMID:30311386, PMID:30712878 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:19626676, PMID:22577227, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9285787, PMID:9305655, PMID:10790201, PMID:11793470, PMID:12646134, PMID:17973976, PMID:18414213, PMID:21135508, PMID:22520358, PMID:23071445, PMID:23917616, PMID:25741868, PMID:28492532, PMID:32805447 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15643603, PMID:15711826, PMID:16267846, PMID:17166836, PMID:17928003, PMID:19091982, PMID:19620182, PMID:20816793, PMID:21419568, PMID:21599812, PMID:22302102, PMID:23850684, PMID:24075313, PMID:24128679, PMID:26467025, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32581362 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) RGD PMID:21959174 RGD:5509577 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:17722006, PMID:21636302, PMID:25012220, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826527, PMID:18321925, PMID:18644145, PMID:20718791, PMID:22703882, PMID:23812641, PMID:24478229, PMID:25525159, PMID:26201691, PMID:26467025, PMID:28492532, PMID:32581362 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:80,195,594...80,208,449
Ensembl chr 1:80,195,532...80,208,448
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8472930, PMID:9892370, PMID:10610707, PMID:10655055, PMID:11788093, PMID:12873855, PMID:14718706, PMID:14718707, PMID:14718708, PMID:15156359, PMID:15486997, PMID:15985586, PMID:16007637, PMID:16944349, PMID:16961075, PMID:17683082, PMID:17846221, PMID:18398442, PMID:18414213, PMID:18465152, PMID:19031088, PMID:19208651, PMID:19779133, PMID:19892370, PMID:20876471, PMID:21450511, PMID:21507954, PMID:21745802, PMID:22287014, PMID:22307627, PMID:22441213, PMID:22751902, PMID:22816526, PMID:23123642, PMID:23250129, PMID:23280630, PMID:23497566, PMID:24108619, PMID:24180463, PMID:24457356, PMID:25401298, PMID:25405613, PMID:25497598, PMID:25741868, PMID:25819952, PMID:25887915, PMID:26288984, PMID:26302956, PMID:26366743, PMID:26410750, PMID:26467025, PMID:26539891, PMID:27217339, PMID:27288452, PMID:27433545, PMID:27871429, PMID:27980752, PMID:28251916, PMID:28491899, PMID:28492532, PMID:28535259, PMID:28641335, PMID:28658401, PMID:28832565, PMID:29093530, PMID:29220673, PMID:29379980, PMID:29417091, PMID:29453517, PMID:29482223, PMID:29538656, PMID:29858556, PMID:29915382, PMID:30680480, PMID:30901567, PMID:32488064, PMID:32581362 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18398442, PMID:19031088, PMID:19892370, PMID:21745802, PMID:24180463, PMID:28492532 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
G Slc16a2 solute carrier family 16 member 2 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:2393019, PMID:12871948, PMID:14661163, PMID:15488219, PMID:15889350, PMID:18187543, PMID:18398436, PMID:18414213, PMID:19648159, PMID:20628049, PMID:20655035, PMID:21098685, PMID:21896621, PMID:22805248, PMID:23550058, PMID:23568789, PMID:24265446, PMID:24629861, PMID:24665922, PMID:24721225, PMID:25527620, PMID:25644381, PMID:25741868, PMID:27212794, PMID:27672545, PMID:28492532 NCBI chr  X:74,578,600...74,706,068
Ensembl chr  X:74,577,131...74,706,214
JBrowse link
G Slc30a6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 6:22,197,003...22,226,364
Ensembl chr 6:22,197,040...22,226,421
JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:20932283, PMID:23833562, PMID:25341883, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr10:104,358,401...104,366,926
Ensembl chr10:104,359,342...104,366,926
JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:11774073, PMID:22958904, PMID:26467025, PMID:28492532 NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:6944241, PMID:11342696, PMID:17661097, PMID:18394578, PMID:19084844, PMID:19805727, PMID:19917823, PMID:24088041, PMID:24833714, PMID:25133958, PMID:25497598, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27217339, PMID:27544497, PMID:28492532, PMID:28832565 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826525, PMID:18606302, PMID:24668814, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30564185 NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539
JBrowse link
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic ClinVar PMID:12872260, PMID:28812649 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
progressive supranuclear palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:98,707,160...98,823,054
Ensembl chr10:98,706,960...98,823,287
JBrowse link
G Mapt microtubule-associated protein tau onset ISO ClinVar Annotator: match by term: Progressive supranuclear ophthalmoplegia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601104
DNA:SNPs, haplotypes::
DNA:SNP, haplotype:promoter, intron:c.-17-19950G>A (rs242557) (human)
OMIM
ClinVar
CTD
PMID:9629852, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9811325, PMID:9824291, PMID:9836646, PMID:9973279, PMID:10076890, PMID:10100642, PMID:10100846, PMID:10214944, PMID:10218629, PMID:10219785, PMID:10318930, PMID:10359094, PMID:10360762, PMID:10443890, PMID:10514099, PMID:10561502, PMID:10627302, PMID:10767321, PMID:10821687, PMID:10865093, PMID:10932182, PMID:11013246, PMID:11081811, PMID:11102510, PMID:11115852, PMID:11255441, PMID:11402146, PMID:11598310, PMID:11738505, PMID:11756436, PMID:12325083, PMID:12473404, PMID:12565146, PMID:12756133, PMID:12876142, PMID:12975285, PMID:14595660, PMID:15372253, PMID:15489396, PMID:15904919, PMID:16157753, PMID:16571759, PMID:16818492, PMID:17950702, PMID:18357425, PMID:18803694, PMID:18992292, PMID:19304664, PMID:19458322, PMID:19786698, PMID:20130190, PMID:20561037, PMID:21492964, PMID:21555888, PMID:21685912, PMID:21849646, PMID:22022446, PMID:22127750, PMID:22723997, PMID:23047372, PMID:23659495, PMID:24150109, PMID:24218087, PMID:25004446, PMID:25151619, PMID:25319522, PMID:25402454, PMID:25592136, PMID:25741868, PMID:26220942, PMID:26269332, PMID:26467025, PMID:26519432, PMID:27439681, PMID:28492532, PMID:15792962, PMID:16839689, PMID:19879020 RGD:8158100, RGD:8158099, RGD:8158095 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:22424094 RGD:8552652 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO protein:increased expression:pontine nucleus, neuron RGD PMID:15841414 RGD:8657142 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Sod1 superoxide dismutase 1 ISO protein:increased activity:brain (human) RGD PMID:11879807 RGD:8655859 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr10:105,792,779...105,795,986
Ensembl chr10:105,792,779...105,795,958
JBrowse link
G Stx6 syntaxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685912 NCBI chr13:72,804,218...72,850,757
Ensembl chr13:72,804,218...72,852,967
JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:20512649 RGD:5687185 NCBI chr 5:165,432,089...165,442,232
Ensembl chr 5:165,432,095...165,442,048
JBrowse link
G Tra2b transformer 2 beta homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:25402454 NCBI chr11:82,373,828...82,392,208
Ensembl chr11:82,373,870...82,392,083
JBrowse link
Progressive Supranuclear Palsy Atypical term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapt microtubule-associated protein tau ISO OMIM NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
proximal myopathy and ophthalmoplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Gas7 growth arrest specific 7 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,010,723...54,240,805
Ensembl chr10:54,126,486...54,236,476
JBrowse link
G Glp2r glucagon-like peptide 2 receptor ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,260,290...54,323,839
Ensembl chr10:54,260,290...54,323,439
JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,740,841...53,764,610
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh13 myosin heavy chain 13 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,921,077...53,927,553 JBrowse link
G Myh2 myosin heavy chain 2 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia
ClinVar Annotator: match by term: Inclusion body myopathy 3
ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant
OMIM
ClinVar
PMID:11114175, PMID:11889243, PMID:15548556, PMID:15741996, PMID:16130113, PMID:20418530, PMID:22349865, PMID:22496423, PMID:22918376, PMID:23388406, PMID:23489661, PMID:24033266, PMID:24193343, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30662633 NCBI chr10:53,711,895...53,738,164
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh4 myosin heavy chain 4 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,778,456...53,801,605
Ensembl chr10:53,713,938...53,848,347
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Rcvrn recoverin ISO ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia ClinVar PMID:28492532 NCBI chr10:54,246,250...54,253,996
Ensembl chr10:54,246,250...54,253,996
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
quadriplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Quadriparesis ClinVar PMID:2842249, PMID:8496742, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24631656, PMID:24739246, PMID:24842602, PMID:24996492, PMID:25359261, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26633545, PMID:27091223, PMID:28293679, PMID:28492532, PMID:29184165, PMID:30311386, PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Spastic tetraplegia ClinVar PMID:25741868 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) RGD PMID:23415255 RGD:12792240 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Ataxia with Dysarthria ClinVar PMID:31047799 NCBI chr 3:2,648,787...2,668,770
Ensembl chr 3:2,648,885...2,668,809
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5 ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, 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 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit 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 OMIM:607459
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.A467T,p.W748S,p.T251I,p.G848S(human)
OMIM
ClinVar
CTD
PMID:632821, PMID:11431686, PMID:11571332, PMID:12210792, PMID:12565911, PMID:12872260, 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:16368709, PMID:16401742, PMID:16545482, PMID:16621917, PMID:16634032, PMID:16638794, PMID:16639411, PMID:16919951, PMID:16940310, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452231, PMID:17846414, PMID:17894835, PMID:17923349, PMID:17950645, PMID:17980715, PMID:18156159, PMID:18195151, PMID:18294203, PMID:18321754, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18585914, 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:19752458, PMID:19766516, PMID:19813183, PMID:19815814, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20153822, PMID:20185557, PMID:20227526, PMID:20301791, PMID:20434700, PMID:20438629, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20803511, PMID:20818383, PMID:20837861, PMID:20837862, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21236670, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21455106, 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:23212759, PMID:23248042, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23783014, PMID:23804100, PMID:23808377, PMID:23811324, PMID:23921535, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:24841123, PMID:25025039, PMID:25118206, PMID:25281868, PMID:25286830, PMID:25356970, PMID:25462018, PMID:25585994, PMID:25713120, PMID:25741868, PMID:26077851, PMID:26095671, PMID:26104464, PMID:26357557, PMID:26467025, PMID:26557169, PMID:26607151, PMID:26735972, PMID:26755490, PMID:26942291, PMID:26942292, PMID:27016405, PMID:27119776, PMID:27185166, PMID:27271921, PMID:27290639, PMID:27345795, PMID:27422324, PMID:27538665, PMID:27822509, PMID:27838477, PMID:27987238, PMID:28128857, PMID:28130605, PMID:28206745, PMID:28284481, PMID:28337550, PMID:28471437, PMID:28480171, PMID:28492532, PMID:28634151, PMID:28771251, PMID:28776642, PMID:28812649, PMID:28837072, PMID:28865037, PMID:29029963, PMID:29272804, PMID:29341116, PMID:29358615, PMID:29423831, PMID:29474836, PMID:29482223, PMID:29574624, PMID:29588995, PMID:29712893, PMID:29920680, PMID:30021052, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890, PMID:30843307, PMID:22616202, PMID:18585914 RGD:8694285, RGD:8694282 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G 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 PMID:21276947, PMID:23711981, PMID:24088041, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26633545, PMID:26942291, PMID:26942292, PMID:28492532, PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:607459
ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15668446, PMID:17614277, PMID:20479361, PMID:20659899, PMID:21689831, PMID:24018892, PMID:25355836, PMID:25741868, PMID:26206283, PMID:26467025, PMID:27551684, PMID:28492532, PMID:29458409 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
spastic ataxia 1