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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:Psychomotor Disorders
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Accession:DOID:9008514 term browser browse the term
Definition:Abnormalities of motor function that are associated with organic and non-organic cognitive disorders.
Synonyms:exact_synonym: Developmental Psychomotor Disorder;   Developmental Psychomotor Disorders;   Psychomotor Impairment;   Psychomotor Impairments
 primary_id: MESH:D011596

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Psychomotor Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chrNW_004955442:9,422,849...9,516,054
Ensembl chrNW_004955442:9,422,849...9,516,103 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:1335535 NCBI chrNW_004955444:12,989,210...12,991,300 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133 		JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732866 NCBI chrNW_004955414:19,188,830...19,197,728
Ensembl chrNW_004955414:19,187,388...19,197,728 		JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31174552 NCBI chrNW_004955505:84,324...216,923
Ensembl chrNW_004955505:81,796...216,923 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20098342 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8955270 NCBI chrNW_004955509:600,415...701,833
Ensembl chrNW_004955509:600,284...701,837 		JBrowse link
G Vdac1 voltage dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chrNW_004955408:5,260,444...5,275,972
Ensembl chrNW_004955408:5,260,353...5,275,990 		JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,014,631...8,197,434
Ensembl chrNW_004955430:8,014,583...8,197,434 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:7,960,036...7,988,754
Ensembl chrNW_004955430:7,960,039...7,988,754 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,269,274...2,307,801
Ensembl chrNW_004955430:2,269,274...2,308,713 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,201,563...17,218,726
Ensembl chrNW_004955429:17,201,027...17,218,726 		JBrowse link
G Chchd4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,911,392...16,921,353
Ensembl chrNW_004955429:16,912,208...16,921,157 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,956,833...2,019,581
Ensembl chrNW_004955430:1,956,375...2,019,598 		JBrowse link
G CUNH3orf20 chromosome unknown C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,222,834...17,271,320
Ensembl chrNW_004955429:17,231,820...17,272,343 		JBrowse link
G Dazl deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,869,419...8,880,782
Ensembl chrNW_004955430:8,869,352...8,880,789 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,544,314...8,550,276
Ensembl chrNW_004955430:8,544,314...8,550,276 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,933,290...1,946,900
Ensembl chrNW_004955430:1,933,290...1,947,932 		JBrowse link
G Efhb EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,932,753...11,986,985
Ensembl chrNW_004955430:11,932,296...11,987,845 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,791,926...12,880,544
Ensembl chrNW_004955429:12,788,468...12,880,543 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,297,123...17,367,365
Ensembl chrNW_004955429:17,304,992...17,366,051 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,463,773...8,510,583
Ensembl chrNW_004955430:8,464,496...8,510,642 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,132,520...17,177,547
Ensembl chrNW_004955429:17,134,158...17,160,036 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,055,774...2,096,260
Ensembl chrNW_004955430:2,053,640...2,096,432 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,890,939...12,907,749
Ensembl chrNW_004955429:12,890,879...12,907,749 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,109,493...12,196,102
Ensembl chrNW_004955430:12,128,069...12,198,117 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,298,850...11,654,835
Ensembl chrNW_004955430:11,298,850...11,654,835 		JBrowse link
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,968,490...16,977,517
Ensembl chrNW_004955429:16,968,490...16,977,517 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:1,910,557...1,933,249
Ensembl chrNW_004955430:1,909,404...1,933,239 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,424,570...17,436,247
Ensembl chrNW_004955429:17,432,443...17,436,247 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,386,190...17,430,820
Ensembl chrNW_004955429:17,386,190...17,430,820 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,907,943...13,041,819
Ensembl chrNW_004955429:12,961,665...13,043,214 		JBrowse link
G Oxnad1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,550,370...8,586,863
Ensembl chrNW_004955430:8,550,372...8,586,863 		JBrowse link
G Plcl2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,157,074...9,347,366
Ensembl chrNW_004955430:9,157,074...9,348,563 		JBrowse link
G Pp2d1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:12,039,391...12,070,440
Ensembl chrNW_004955430:12,040,197...12,069,254 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:11,991,548...12,040,003 JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,444,031...17,468,024
Ensembl chrNW_004955429:17,444,622...17,468,050 		JBrowse link
G Rftn1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:8,605,057...8,801,187
Ensembl chrNW_004955430:8,603,401...8,779,896 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:10,587,539...10,683,887
Ensembl chrNW_004955430:10,587,539...10,683,887 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:968,814...1,091,687
Ensembl chrNW_004955561:968,814...1,042,691 		JBrowse link
G Sh3bp5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:2,251,544...2,266,166
Ensembl chrNW_004955430:2,196,967...2,264,953 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:17,097,753...17,130,079
Ensembl chrNW_004955429:17,098,268...17,130,433 		JBrowse link
G Tbc1d5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955430:9,411,865...9,966,710
Ensembl chrNW_004955430:9,410,475...9,940,460 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chrNW_004955561:933,168...956,457
Ensembl chrNW_004955561:933,173...956,457 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,921,469...16,934,978
Ensembl chrNW_004955429:16,921,469...16,934,978 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895 		JBrowse link
G Xpc XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chrNW_004955429:16,935,901...16,968,285
Ensembl chrNW_004955429:16,935,901...16,955,845 		JBrowse link
Al-Raqad Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Al-Raqad syndrome OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 NCBI chrNW_004955412:27,326,946...27,367,455
Ensembl chrNW_004955412:27,326,971...27,367,342 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955573:759,222...763,222
Ensembl chrNW_004955573:759,222...763,222 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 PMID:26374271 PMID:29619239 PMID:30006060 PMID:30426380 More... NCBI chrNW_004955457:14,178,674...14,200,164
Ensembl chrNW_004955457:14,178,947...14,192,193 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:25741913 More... NCBI chrNW_004955573:752,646...759,292
Ensembl chrNW_004955573:752,601...759,292 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia ClinVar PMID:11920851 PMID:15534188 PMID:25741868 NCBI chrNW_004955523:2,128,529...2,210,737
Ensembl chrNW_004955523:2,128,529...2,210,737 		JBrowse link
apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BCL11 transcription factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chrNW_004955424:23,233,523...23,330,679
Ensembl chrNW_004955424:23,233,523...23,330,679 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17033973 PMID:27120335 NCBI chrNW_004955432:20,205,369...20,589,608
Ensembl chrNW_004955432:20,334,237...20,589,352 		JBrowse link
ataxia with oculomotor apraxia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin susceptibility ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)		 OMIM
ClinVar
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:1599207 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 More... NCBI chrNW_004955559:1,064,924...1,070,120 JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chrNW_004955467:8,025,231...8,091,406
Ensembl chrNW_004955467:8,065,857...8,091,486 		JBrowse link
ataxia-oculomotor apraxia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 More... NCBI chrNW_004955559:1,064,924...1,070,120 JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chrNW_004955432:3,246,090...3,257,774
Ensembl chrNW_004955432:3,246,092...3,257,774 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chrNW_004955455:14,679,416...14,960,226
Ensembl chrNW_004955455:14,679,416...14,957,532 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
Bainbridge-Ropers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl3 ASXL transcriptional regulator 3 ISO ClinVar Annotator: match by term: Bainbridge-Ropers syndrome OMIM
ClinVar		 PMID:23383720 PMID:25326635 PMID:25590979 PMID:25741868 PMID:25741905 More... NCBI chrNW_004955402:20,571,209...20,704,480
Ensembl chrNW_004955402:20,605,804...20,702,054 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chrNW_004955559:1,085,033...1,102,501
Ensembl chrNW_004955559:1,084,182...1,103,143 		JBrowse link
Bowen-Conradi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Bowen-Conradi syndrome OMIM
ClinVar		 PMID:19463982 PMID:25741868 PMID:28492532 NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809 		JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd96 CD96 molecule ISO ClinVar Annotator: match by term: C syndrome OMIM
ClinVar		 PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 NCBI chrNW_004955427:11,971,051...12,057,185
Ensembl chrNW_004955427:11,971,021...12,059,171 		JBrowse link
cerebellar atrophy, visual impairment, and psychomotor retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26572623 PMID:26942288 PMID:27657687 More... NCBI chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951 		JBrowse link
Childhood-Onset Chorea with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr88 G protein-coupled receptor 88 ISO ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:27123486 PMID:28492532 NCBI chrNW_004955435:5,268,746...5,271,237 JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chrNW_004955452:3,044,042...3,104,650
Ensembl chrNW_004955452:3,044,264...3,104,418 		JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration 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: Huppke-Brendel syndrome OMIM
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 More... NCBI chrNW_004955448:6,885,153...6,905,641
Ensembl chrNW_004955448:6,885,153...6,905,631 		JBrowse link
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj11 potassium inwardly rectifying channel subfamily J member 11 ISO ClinVar Annotator: match by term: DEND syndrome ClinVar PMID:15580558 PMID:15718250 PMID:25741868 PMID:26448950 NCBI chrNW_004955414:32,209,426...32,212,424
Ensembl chrNW_004955414:32,210,545...32,211,717 		JBrowse link
diphthamide deficiency syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dph1 diphthamide biosynthesis 1 ISO ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:29565416 PMID:30877278 PMID:32732226 More... NCBI chrNW_004955481:1,194,428...1,205,231
Ensembl chrNW_004955481:1,194,428...1,205,231 		JBrowse link
fumarase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004955406:10,455,367...10,461,934 JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004955406:10,248,981...10,276,207
Ensembl chrNW_004955406:10,245,886...10,275,522 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency OMIM
ClinVar		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627 		JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004955406:10,496,102...10,527,181
Ensembl chrNW_004955406:10,493,379...10,527,201 		JBrowse link
G Map1lc3c microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004955406:5,769,894...5,774,806 JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004955406:10,450,810...10,493,958
Ensembl chrNW_004955406:10,450,768...10,493,958 		JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004955406:5,810,286...5,994,601
Ensembl chrNW_004955406:5,816,926...6,138,579 		JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300 PMID:12761039 PMID:21398687 PMID:22069215 PMID:28300276 More... NCBI chrNW_004955406:10,317,674...10,439,077
Ensembl chrNW_004955406:10,318,124...10,438,890 		JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adk adenosine kinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004955437:17,279,541...17,786,140
Ensembl chrNW_004955437:17,279,240...17,786,079 		JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004955437:17,786,419...17,810,678
Ensembl chrNW_004955437:17,786,419...17,810,678 		JBrowse link
G Comtd1 catechol-O-methyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004955437:16,853,516...16,854,867
Ensembl chrNW_004955437:16,853,518...16,854,867 		JBrowse link
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004955437:14,510,488...14,628,768
Ensembl chrNW_004955437:14,510,488...14,628,768 		JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004955437:17,002,269...17,037,750
Ensembl chrNW_004955437:17,002,190...17,040,786 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004955437:14,749,808...15,457,274
Ensembl chrNW_004955437:14,749,914...15,454,028 		JBrowse link
G Lgi1 leucine rich glioma inactivated 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:25741868 NCBI chrNW_004955507:268,032...304,949
Ensembl chrNW_004955507:267,892...305,026 		JBrowse link
G Lrmda leucine rich melanocyte differentiation associated ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004955437:15,678,397...16,173,214 JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004955437:17,995,726...18,000,542
Ensembl chrNW_004955437:17,994,537...18,000,209 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004955437:14,435,822...14,442,662
Ensembl chrNW_004955437:14,434,771...14,443,106 		JBrowse link
G Samd8 sterile alpha motif domain containing 8 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004955437:16,900,756...16,969,042
Ensembl chrNW_004955437:16,900,688...16,969,042 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chrNW_004955437:17,812,998...17,920,253
Ensembl chrNW_004955437:17,813,007...17,920,253 		JBrowse link
G Vdac2 voltage dependent anion channel 2 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004955437:16,857,715...16,871,717
Ensembl chrNW_004955437:16,853,433...16,872,345 		JBrowse link
G Znf503 zinc finger protein 503 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chrNW_004955437:16,724,696...16,728,759
Ensembl chrNW_004955437:16,724,465...16,731,930 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: GPAA1-related condition | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955454:2,735,463...2,738,956
Ensembl chrNW_004955454:2,735,463...2,738,956 		JBrowse link
Harel-Yoon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Harel-Yoon syndrome ClinVar NCBI chrNW_004955486:6,320,380...6,369,020
Ensembl chrNW_004955486:6,320,380...6,369,065 		JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Heart and brain malformation syndrome OMIM
ClinVar		 PMID:25741868 PMID:27018474 PMID:28492532 PMID:31390136 PMID:32412169 More... NCBI chrNW_004955555:1,463,031...1,481,411
Ensembl chrNW_004955555:1,459,451...1,481,411 		JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 More... NCBI chrNW_004955413:27,027,341...27,065,227
Ensembl chrNW_004955413:27,027,341...27,065,227 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 More... NCBI chrNW_004955413:27,065,785...27,072,432
Ensembl chrNW_004955413:27,065,785...27,072,432 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26358778 PMID:28492532 NCBI chrNW_004955429:17,201,563...17,218,726
Ensembl chrNW_004955429:17,201,027...17,218,726 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:25741868 NCBI chrNW_004955404:9,603,567...9,894,688
Ensembl chrNW_004955404:9,603,562...9,895,817 		JBrowse link
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies ClinVar PMID:24033266 PMID:25741868 PMID:26545877 PMID:26708751 PMID:26708753 More... NCBI chrNW_004955457:5,445,255...5,649,286
Ensembl chrNW_004955457:5,442,502...5,649,086 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition | ClinVar Annotator: match by term: NALCN-related disorders OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 More... NCBI chrNW_004955404:9,603,567...9,894,688
Ensembl chrNW_004955404:9,603,562...9,895,817 		JBrowse link
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc80 unc-80 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-Related Disorder | ClinVar Annotator: match by term: UNC80-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chrNW_004955457:5,445,255...5,649,286
Ensembl chrNW_004955457:5,442,502...5,649,086 		JBrowse link
infantile hypotonia with psychomotor retardation and characteristic facies-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chrNW_004955496:3,108,113...3,288,141
Ensembl chrNW_004955496:3,114,360...3,290,909 		JBrowse link
intellectual developmental disorder with cardiac arrhythmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac arrhythmia OMIM
ClinVar		 PMID:21766168 PMID:25741868 PMID:25741873 PMID:27523599 PMID:27677260 More... NCBI chrNW_004955409:2,621,144...2,642,298
Ensembl chrNW_004955409:2,619,718...2,641,308 		JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brpf1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:27939639 PMID:27939640 PMID:28492532 More... NCBI chrNW_004955561:1,260,237...1,275,953
Ensembl chrNW_004955561:1,259,700...1,276,015 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chrNW_004955409:15,612,118...15,613,056
Ensembl chrNW_004955409:15,612,198...15,612,842 		JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otud6b OTU deubiquitinase 6B ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition OMIM
ClinVar		 PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 More... NCBI chrNW_004955417:7,844,311...7,859,032
Ensembl chrNW_004955417:7,844,292...7,858,658 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D ISO ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | ClinVar Annotator: match by term: PPM1D-related condition OMIM
ClinVar		 PMID:23907125 PMID:24262437 PMID:25741868 PMID:28343630 PMID:28492532 More... NCBI chrNW_004955451:1,878,110...1,915,794
Ensembl chrNW_004955451:1,878,629...1,915,654 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin OMIM
ClinVar		 PMID:25741868 PMID:27453576 PMID:28891213 PMID:31474318 PMID:33116287 NCBI chrNW_004955424:23,233,523...23,330,679
Ensembl chrNW_004955424:23,233,523...23,330,679 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin ClinVar PMID:25741868 NCBI chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369 		JBrowse link
G Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin ClinVar PMID:25741868 NCBI chrNW_004955555:609,925...612,701
Ensembl chrNW_004955555:609,925...612,701 		JBrowse link
Keppen-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj6 potassium inwardly rectifying channel subfamily J member 6 ISO ClinVar Annotator: match by term: KCNJ6-related condition | ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar		 PMID:19610118 PMID:25620207 PMID:25741868 PMID:28492532 NCBI chrNW_004955407:36,670,824...36,923,960
Ensembl chrNW_004955407:36,659,627...36,924,024 		JBrowse link
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erc1 ELKS/RAB6-interacting/CAST family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chrNW_004955454:3,584,910...4,036,276
Ensembl chrNW_004955454:3,586,667...4,031,130 		JBrowse link
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 ISO ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26138117 PMID:26153217 PMID:27108999 PMID:28492532 More... NCBI chrNW_004955450:11,525,245...11,719,992
Ensembl chrNW_004955450:11,525,246...11,719,992 		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 ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability OMIM
ClinVar		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577 		JBrowse link
mitochondrial pyruvate carrier deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies ClinVar
OMIM		 PMID:35087184 NCBI chrNW_004955555:1,463,031...1,481,411
Ensembl chrNW_004955555:1,459,451...1,481,411 		JBrowse link
Ogden syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Ogden syndrome OMIM
ClinVar		 PMID:18414213 PMID:21700266 PMID:23020937 PMID:25099252 PMID:25326635 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
Okur-Chung Neurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: CSNK2A1-related condition | ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome OMIM
ClinVar		 PMID:11574463 PMID:24395637 PMID:25363768 PMID:25741868 PMID:27048600 More... NCBI chrNW_004955597:326,601...397,112 JBrowse link
G Galnt18 polypeptide N-acetylgalactosaminyltransferase 18 ISO ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome ClinVar PMID:25741868 NCBI chrNW_004955414:26,812,056...27,146,036
Ensembl chrNW_004955414:26,811,907...27,146,528 		JBrowse link
Parenti-Mignot Neurodevelopmental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome ClinVar
OMIM		 PMID:25741868 PMID:33944996 NCBI chrNW_004955486:6,320,380...6,369,020
Ensembl chrNW_004955486:6,320,380...6,369,065 		JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,380,395...22,404,426
Ensembl chrNW_004955435:22,380,388...22,404,052 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004955435:22,804,484...22,820,807
Ensembl chrNW_004955435:22,804,484...22,821,482 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,414,605...22,421,682 JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004955568:1,660,357...1,812,285
Ensembl chrNW_004955568:1,660,731...1,809,173 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency OMIM
ClinVar		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chrNW_004955435:22,757,473...22,803,123
Ensembl chrNW_004955435:22,757,454...22,803,123 		JBrowse link
G Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chrNW_004955435:22,886,351...22,895,884 JBrowse link
G Tbx15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:21,874,154...21,993,510
Ensembl chrNW_004955435:21,872,201...21,993,772 		JBrowse link
G Wars2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,032,230...22,115,138
Ensembl chrNW_004955435:22,032,230...22,115,138 		JBrowse link
G Znf697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chrNW_004955435:22,660,287...22,693,591
Ensembl chrNW_004955435:22,660,234...22,680,527 		JBrowse link
polyhydramnios, megalencephaly, and symptomatic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strada STE20 related adaptor alpha ISO ClinVar Annotator: match by term: PMSE SYNDROME | ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 More... NCBI chrNW_004955478:8,082,075...8,116,320
Ensembl chrNW_004955478:8,082,075...8,116,543 		JBrowse link
PSAT deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: PSAT deficiency | ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency OMIM
ClinVar		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412 		JBrowse link
PSPH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct6a chaperonin containing TCP1 subunit 6A ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,223,785...8,236,760
Ensembl chrNW_004955456:8,223,774...8,237,966 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,260,533...8,265,488
Ensembl chrNW_004955456:8,255,898...8,265,488 		JBrowse link
G Phkg1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,251,789...8,259,205
Ensembl chrNW_004955456:8,251,130...8,259,205 		JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency OMIM
ClinVar		 PMID:9222972 PMID:9536098 PMID:14673469 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955456:8,198,739...8,212,111
Ensembl chrNW_004955456:8,198,739...8,212,025 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chrNW_004955456:8,238,301...8,251,682
Ensembl chrNW_004955456:8,238,318...8,251,366 		JBrowse link
Psychomotor Agitation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17658665 NCBI chrNW_004955402:9,091,927...9,099,803
Ensembl chrNW_004955402:9,091,725...9,099,803 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chrNW_004955454:4,573,647...5,199,046
Ensembl chrNW_004955454:4,490,923...5,198,506 		JBrowse link
G Mapt microtubule associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:24556215 NCBI chrNW_004955478:10,222,439...10,271,439
Ensembl chrNW_004955478:10,225,823...10,271,442 		JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18285828 NCBI chrNW_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139 		JBrowse link
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES | ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:28492532 PMID:29358611 PMID:34570759 NCBI chrNW_004955452:15,352,080...15,365,545
Ensembl chrNW_004955452:15,353,182...15,365,459 		JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,483,819...7,515,085
Ensembl chrNW_004955503:7,482,793...7,515,120 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,237,080...7,341,702 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:6,949,901...6,971,281
Ensembl chrNW_004955503:6,949,823...6,975,030 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,383,567...7,423,489
Ensembl chrNW_004955503:7,383,567...7,426,124 		JBrowse link
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,526,077...7,535,817
Ensembl chrNW_004955503:7,521,930...7,535,817 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:6,973,965...7,020,182
Ensembl chrNW_004955503:6,974,239...6,997,618 		JBrowse link
G Rpl36a ribosomal protein L36a ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,520,530...7,523,593 JBrowse link
G Srpx2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition OMIM
ClinVar		 PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 More... NCBI chrNW_004955503:6,795,793...6,817,779
Ensembl chrNW_004955503:6,795,734...6,821,119 		JBrowse link
G Sytl4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:6,821,263...6,899,983
Ensembl chrNW_004955503:6,821,236...6,899,983 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,429,876...7,451,051 JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,480,075...7,483,218
Ensembl chrNW_004955503:7,480,075...7,483,218 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,224,847...7,234,210
Ensembl chrNW_004955503:7,224,814...7,235,527 		JBrowse link
G Xkrx XK related X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chrNW_004955503:7,037,200...7,066,070
Ensembl chrNW_004955503:7,037,200...7,066,070 		JBrowse link
sepiapterin reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency | ClinVar Annotator: match by term: SPR deficiency OMIM
ClinVar		 PMID:9700606 PMID:10384371 PMID:11443547 PMID:15241655 PMID:16049044 More... NCBI chrNW_004955424:12,711,064...12,716,000
Ensembl chrNW_004955424:12,711,064...12,716,000 		JBrowse link
speech-language disorder-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh18 cadherin 18 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chrNW_004955426:7,914,692...8,318,339
Ensembl chrNW_004955426:7,912,094...8,176,659 		JBrowse link
G Foxp2 forkhead box P2 no_association ISO ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition
DNA:missense mutation: :p.P215A (human)		 OMIM
ClinVar
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11536000 NCBI chrNW_004955432:20,205,369...20,589,608
Ensembl chrNW_004955432:20,334,237...20,589,352 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chrNW_004955410:14,567,787...15,420,025
Ensembl chrNW_004955410:14,567,951...15,354,190 		JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chrNW_004955410:14,954,301...14,986,896
Ensembl chrNW_004955410:14,954,301...14,986,896 		JBrowse link
G Zgrf1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:27120335 NCBI chrNW_004955457:14,200,280...14,258,010 JBrowse link
spinocerebellar ataxia with axonal neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 ClinVar PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 OMIM
ClinVar		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021 		JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 NCBI chrNW_004955422:19,435,528...19,440,095
Ensembl chrNW_004955422:19,435,380...19,440,095 		JBrowse link
Verheij Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Puf60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: Verheij syndrome OMIM
ClinVar		 PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 PMID:28074499 More... NCBI chrNW_004955454:2,482,968...2,497,339
Ensembl chrNW_004955454:2,482,968...2,497,339 		JBrowse link
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chrNW_004955475:4,676,190...5,162,108
Ensembl chrNW_004955475:5,126,158...5,162,108 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted OMIM
ClinVar		 PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972 NCBI chrNW_004955475:4,569,263...4,604,571
Ensembl chrNW_004955475:4,568,005...4,604,577 		JBrowse link
ZTTK Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:33,288,194...33,298,817
Ensembl chrNW_004955407:33,286,178...33,299,420 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,076,670...32,089,307
Ensembl chrNW_004955407:32,076,507...32,089,307 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:33,016,289...33,055,495
Ensembl chrNW_004955407:33,015,545...33,055,495 		JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,928,655...32,931,331
Ensembl chrNW_004955407:32,928,663...32,929,814 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:33,007,257...33,014,600
Ensembl chrNW_004955407:33,007,257...33,015,039 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,229,108...32,249,097 JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:31,934,954...32,043,827
Ensembl chrNW_004955407:31,934,965...32,044,228 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,944,638...32,975,142
Ensembl chrNW_004955407:32,944,164...32,973,863 		JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,730,973...32,755,404
Ensembl chrNW_004955407:32,730,953...32,754,651 		JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,601,862...32,637,852
Ensembl chrNW_004955407:32,601,826...32,638,564 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,846,927...32,863,155
Ensembl chrNW_004955407:32,843,846...32,862,997 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,641,097...32,659,360
Ensembl chrNW_004955407:32,640,622...32,663,259 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:33,056,004...33,275,681
Ensembl chrNW_004955407:33,113,319...33,275,675 		JBrowse link
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:33,734,969...33,736,609
Ensembl chrNW_004955407:33,735,148...33,735,513 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:31,799,537...31,813,897
Ensembl chrNW_004955407:31,798,924...31,813,862 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:31,833,469...31,847,043 JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,471,501...32,480,358
Ensembl chrNW_004955407:32,471,516...32,479,079 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,432,888...32,436,209
Ensembl chrNW_004955407:32,433,849...32,434,923 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,178,837...32,210,470
Ensembl chrNW_004955407:32,179,879...32,210,352 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:33,460,238...33,511,889
Ensembl chrNW_004955407:33,494,816...33,511,968 		JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: SON-related condition | ClinVar Annotator: match by term: ZTTK syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25590979 PMID:25741868 PMID:25741875 More... NCBI chrNW_004955407:32,974,656...33,007,073
Ensembl chrNW_004955407:32,974,725...33,006,297 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:32,876,380...32,916,036
Ensembl chrNW_004955407:32,874,905...32,916,036 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chrNW_004955407:31,849,103...31,915,457
Ensembl chrNW_004955407:31,848,012...31,915,362 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          Neurobehavioral Manifestations 4186
            Psychomotor Disorders 186
              3p deletion syndrome 39
              Al-Raqad Syndrome 1
              Alazami-Yuan Syndrome 3
              Asparagine Synthetase Deficiency 0
              Au-Kline Syndrome 5
              Bainbridge-Ropers syndrome 1
              Basel-Vanagaite-Smirin-Yosef syndrome 1
              Bowen-Conradi syndrome 1
              C syndrome 1
              Childhood-Onset Chorea with Psychomotor Retardation 1
              Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
              Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
              De Hauwere Leroy Adriaenssens syndrome 0
              Developmental Delay, Epilepsy, and Neonatal Diabetes 1
              Diaminopentanuria 0
              Edinburgh Malformation Syndrome 0
              Genitopatellar Syndrome 15
              Glycosylphosphatidylinositol Biosynthesis Defect 15 1
              Growth Retardation, Small and Puffy Hands and Feet, and Eczema 0
              HEART AND BRAIN MALFORMATION SYNDROME 1
              Harel-Yoon syndrome 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 3
              Infantile Hypotonia with Psychomotor Retardation + 4
              Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 2
              Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
              Keppen-Lubinsky Syndrome 1
              Kozlowski Rafinski Klicharska Syndrome 0
              MacDermot Winter Syndrome 0
              Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation 2
              Megarbane Syndrome 0
              Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
              Ogden syndrome 1
              Okur-Chung Neurodevelopmental Syndrome 2
              PHGDH deficiency 9
              PSAT deficiency 1
              PSPH deficiency 5
              Parenti-Mignot Neurodevelopmental Syndrome 1
              Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
              Psychomotor Agitation + 4
              Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
              THAUVIN-ROBINET-FAIVRE SYNDROME 1
              Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
              Verheij Syndrome 1
              ZTTK Syndrome 24
              apraxia + 28
              cerebellar atrophy, visual impairment, and psychomotor retardation 1
              diphthamide deficiency syndrome 1 1
              fumarase deficiency 8
              infantile cerebellar-retinal degeneration 2
              intellectual developmental disorder with cardiac arrhythmia 1
              mitochondrial pyruvate carrier deficiency 1
              polyhydramnios, megalencephaly, and symptomatic epilepsy 1
              sepiapterin reductase deficiency 1
paths to the root