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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
 xref: 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 chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474 		JBrowse link
G Crh corticotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:1335535 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:104,058,770...104,061,386 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19732866 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:165,631,462...165,642,669 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31174552 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:124,706,080...124,867,239 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20098342 NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8955270 NCBI chr  X:39,325,926...39,432,017
Ensembl chr  X:39,325,926...39,433,678 		JBrowse link
G Vdac1 voltage-dependent anion channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr10:37,029,377...37,060,542
Ensembl chr10:37,023,145...37,060,541 		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 chr16:6,924,868...7,056,593
Ensembl chr16:6,924,882...7,056,593 		JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,869,448...6,900,711
Ensembl chr16:6,869,291...6,901,410 		JBrowse link
G C4h3orf20 similar to human chromosome 3 open reading frame 20 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:125,980,430...126,027,791 		JBrowse link
G Capn7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,552,049...6,588,316 		JBrowse link
G Ccdc174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:125,949,203...125,976,179
Ensembl chr 4:125,949,420...125,976,178 		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 chr 4:125,525,428...125,534,562
Ensembl chr 4:125,525,429...125,534,562
Ensembl chr 1:125,525,429...125,534,562 		JBrowse link
G Colq collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,738,251...6,793,501 		JBrowse link
G Dazl deleted in azoospermia-like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:18,193,363...18,210,100
Ensembl chr 9:18,193,363...18,210,100 		JBrowse link
G Dph3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,294,580...7,299,996
Ensembl chr16:7,294,580...7,299,996 		JBrowse link
G Eaf1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,704,727...6,719,476
Ensembl chr16:6,704,727...6,719,476 		JBrowse link
G Efhb EF hand domain family, member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,608,794...6,678,827 		JBrowse link
G Fbln2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:125,261,607...125,321,029 		JBrowse link
G Fgd5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:126,054,201...126,151,698
Ensembl chr 4:126,054,210...126,151,697 		JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,233,524...7,273,290
Ensembl chr16:7,233,606...7,273,285 		JBrowse link
G Grip2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:125,828,609...125,913,750 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,831,293...6,869,410
Ensembl chr16:6,833,268...6,869,410 		JBrowse link
G Hdac11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:125,203,044...125,224,584
Ensembl chr 4:125,202,299...125,224,582 		JBrowse link
G Kat2b lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,799,101...6,903,616
Ensembl chr 9:6,799,145...6,903,616 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:5,742,683...6,182,445
Ensembl chr 9:5,742,683...6,182,445 		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 chr 4:125,578,185...125,584,429
Ensembl chr 4:125,578,185...125,584,429 		JBrowse link
G Mettl6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,689,248...6,705,359 		JBrowse link
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:126,225,450...126,237,373 		JBrowse link
G Nr2c2 nuclear receptor subfamily 2, group C, member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:126,167,350...126,223,942
Ensembl chr 4:126,168,085...126,223,942 		JBrowse link
G Nup210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:125,068,736...125,167,238
Ensembl chr 4:125,068,736...125,167,047 		JBrowse link
G Oxnad1 oxidoreductase NAD-binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,299,755...7,328,824 		JBrowse link
G Plcl2 phospholipase C-like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,529,117...3,713,712
Ensembl chr 9:3,529,841...3,713,712 		JBrowse link
G Pp2d1 protein phosphatase 2C-like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,749,236...6,770,216 		JBrowse link
G Rab5a RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:6,720,057...6,749,456
Ensembl chr 9:6,721,122...6,749,447 		JBrowse link
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:126,239,902...126,266,904 		JBrowse link
G Rftn1 raftlin lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:18,302,143...18,499,819
Ensembl chr 9:18,285,934...18,499,819 		JBrowse link
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:4,916,958...5,010,359
Ensembl chr 9:4,917,215...4,989,925 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:147,773,028...147,850,667 		JBrowse link
G Sh3bp5 SH3-domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr16:6,589,877...6,676,524
Ensembl chr16:6,589,877...6,655,211 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:125,752,340...125,826,033
Ensembl chr 4:125,752,372...125,826,032 		JBrowse link
G Tbc1d5 TBC1 domain family, member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 9:3,740,032...4,256,971
Ensembl chr 9:3,750,325...4,253,581 		JBrowse link
G Thumpd3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:147,741,309...147,765,579 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:125,534,844...125,549,986
Ensembl chr 4:125,534,813...125,549,988 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr 4:125,420,276...125,466,149
Ensembl chr 4:125,420,276...125,466,149 		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 chr 4:125,550,833...125,578,084
Ensembl chr 4:125,550,833...125,578,305 		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 | ClinVar Annotator: match by term: DCPS-related condition OMIM
ClinVar		 PMID:25701870 PMID:25712129 PMID:25741868 PMID:28492532 PMID:30289615 More... NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:41,724,563...41,782,222 		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 Annotator: match by term: TAF6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32017898 More... NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:218,672,208...218,687,308 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:22,169,570...22,178,031
Ensembl chr12:22,168,718...22,177,938 		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 chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia 		CTD
ClinVar		 PMID:11920851 PMID:15534188 PMID:25741868 NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:109,060,352...109,106,189 		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 chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G Foxp2 forkhead box P2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA 		CTD
ClinVar		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16984964 PMID:17033973 More... NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696 		JBrowse link
Asparagine Synthetase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency OMIM
ClinVar		 PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 More... NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:36,751,802...36,776,050 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar PMID:25741868 PMID:28492532 PMID:33864888 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		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: APTX-related condition | ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human) 		OMIM
ClinVar
CTD
RGD		 PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 More... RGD:10054301, RGD:10054300, RGD:1599207 NCBI chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790 		JBrowse link
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like syndrome ClinVar PMID:16199547 PMID:20118933 PMID:25728773 PMID:25741868 PMID:28492532 More... NCBI chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ClinVar PMID:32488064 NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		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 | ClinVar Annotator: match by term: PIK3R5-related condition OMIM
ClinVar		 PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,631,476...53,699,539 		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 chr 1:104,476,801...104,483,409
Ensembl chr 1:104,478,088...104,483,408 		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: ASXL3-related condition | ClinVar Annotator: match by term: ASXL3-related disorder | ClinVar Annotator: match by term: Bainbridge-Ropers syndrome OMIM
ClinVar		 PMID:23383720 PMID:25131622 PMID:25326635 PMID:25590979 PMID:25741868 More... NCBI chr18:13,593,529...13,766,324
Ensembl chr18:13,868,674...14,037,373 		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:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 1:104,496,447...104,513,061
Ensembl chr 1:104,496,447...104,512,391 		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
ISS 		OMIM:211180
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bowen-Conradi syndrome 		OMIM
MouseDO
CTD
ClinVar		 PMID:19463982 PMID:25741868 PMID:28492532 NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826 		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 | ClinVar Annotator: match by term: CD96-related condition OMIM
ClinVar		 PMID:16199547 PMID:17847009 PMID:25741868 PMID:28492532 PMID:34906502 More... NCBI chr11:68,164,926...68,239,266
Ensembl chr11:68,164,872...68,241,937 		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:23105016 PMID:25741868 PMID:26572623 PMID:26942288 More... NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:156,891,773...156,917,092 		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 | ClinVar Annotator: match by term: GPR88-related condition OMIM
ClinVar		 PMID:25741868 PMID:27123486 PMID:28492532 NCBI chr 2:206,876,373...206,885,034
Ensembl chr 2:206,868,585...206,884,945 		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 chr 5:154,066,436...154,121,913
Ensembl chr 5:154,065,543...154,121,775 		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 | ClinVar Annotator: match by term: SLC33A1-related condition OMIM
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:24215330 PMID:25741868 More... NCBI chr 2:150,565,327...150,587,700
Ensembl chr 2:150,565,328...150,587,416 		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 chr 1:105,727,473...105,731,167
Ensembl chr 1:105,727,570...105,731,169 		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
ISS 		ClinVar Annotator: match by term: DPH1-related condition | ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 OMIM
ClinVar
MouseDO		 PMID:14744934 PMID:24895408 PMID:25558065 PMID:25741868 PMID:26220823 More... NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,527,680...60,535,816 		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 chr13:87,609,647...87,619,868
Ensembl chr13:90,131,514...90,151,265 		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 chr13:90,341,947...90,366,861
Ensembl chr13:90,342,018...90,366,861 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Fumarase deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... NCBI chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627 		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 chr13:90,089,340...90,121,108
Ensembl chr13:90,089,463...90,125,151 		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 chr13:87,589,333...87,619,847
Ensembl chr13:90,121,560...90,152,076 		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 chr13:87,895,694...88,232,868
Ensembl chr13:90,428,490...90,783,066 		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 chr13:87,624,588...87,746,749
Ensembl chr13:90,156,862...90,279,233 		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 chr15:2,912,543...3,295,745
Ensembl chr15:2,912,544...3,295,745 		JBrowse link
G Ap3m1 adaptor related protein complex 3 subunit mu 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,285,591...3,314,139
Ensembl chr15:3,295,444...3,313,104 		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 chr15:2,459,783...2,462,895
Ensembl chr15:2,509,032...2,512,232 		JBrowse link
G Dlg5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:125,287...237,334
Ensembl chr15:125,290...237,332 		JBrowse link
G Dusp13b dual specificity phosphatase 13B ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,616,761...2,624,434
Ensembl chr15:2,609,049...2,624,887 		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 chr15:2,593,473...2,634,019
Ensembl chr15:2,655,923...2,689,538 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:12210329 PMID:12210330 PMID:16199547 PMID:16761293 More... RGD:9588485 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:25741868 NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:245,455,599...245,499,095 		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 chr15:1,275,139...2,334,153
Ensembl chr15:1,274,199...2,334,089 		JBrowse link
G Plau plasminogen activator, urokinase ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr16:56,066...95,060
Ensembl chr16:56,066...95,060 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr16:95,429...101,146
Ensembl chr16:96,484...101,144 		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 chr15:2,512,104...2,562,368
Ensembl chr15:2,561,435...2,607,052 		JBrowse link
G Vcl vinculin ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:28492532 NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,315,069...3,405,163 		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 chr15:2,512,214...2,526,105
Ensembl chr15:2,512,216...2,532,229 		JBrowse link
G Zfp503 zinc finger protein 503 ISO ClinVar Annotator: match by term: Genitopatellar syndrome ClinVar PMID:22077973 PMID:23436491 PMID:25424711 PMID:27880066 PMID:28492532 NCBI chr15:2,313,060...2,316,848
Ensembl chr15:2,362,427...2,366,238 		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 chr 7:109,932,556...109,936,139
Ensembl chr 7:109,932,544...109,936,138 		JBrowse link
Harel-Yoon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Harel-Yoon syndrome OMIM
ClinVar		 PMID:25741868 PMID:27640307 PMID:28158749 PMID:28492532 PMID:31727539 More... NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO ClinVar Annotator: match by term: Harel-Yoon syndrome ClinVar PMID:25741868 NCBI chr 5:168,130,851...168,181,705
Ensembl chr 5:168,130,575...168,179,441 		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 chr 1:89,116,459...89,139,182
Ensembl chr 1:89,116,482...89,139,182 		JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration OMIM
ClinVar		 PMID:2854533 PMID:3248392 PMID:9536098 PMID:17576681 PMID:22405087 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:115,265,791...115,308,892 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:2854533 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 More... NCBI chr 7:115,309,571...115,319,881
Ensembl chr 7:115,309,589...115,319,915 		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: CCDC174-related condition | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation OMIM
ClinVar		 PMID:25741868 PMID:26358778 PMID:28492532 NCBI chr 4:125,949,203...125,976,179
Ensembl chr 4:125,949,420...125,976,178 		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 chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		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 chr 9:68,011,940...68,190,135
Ensembl chr 9:75,461,599...75,639,842 		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
DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 More... RGD:12911215, RGD:12914762 NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		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 1 ClinVar PMID:25741868 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:75,461,599...75,639,842 		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 DNA:nonsense mutation:exon:p.R51 (c.151C>T) (human)
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | ClinVar Annotator: match by term: UNC80-related disorder 		ClinVar
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... RGD:11528248 NCBI chr 9:68,011,940...68,190,135
Ensembl chr 9:75,461,599...75,639,842 		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 chr 2:223,849,758...224,022,097
Ensembl chr 2:223,849,778...224,022,094 		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 condition | 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 chr 8:76,076,120...76,105,069
Ensembl chr 8:84,953,815...84,986,888 		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:27939639 PMID:27939640 PMID:28492532 PMID:32010779 More... NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:148,011,931...148,028,424 		JBrowse link
G Rpl10l ribosomal protein L10 like ISO ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:90,081,656...90,287,434 		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 chr10:70,670,026...70,706,030
Ensembl chr10:70,670,020...70,706,256 		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: BCL11A-related condition | ClinVar Annotator: match by term: BCL11A-related intellectual disability | ClinVar Annotator: match by term: Dias-Logan syndrome | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin OMIM
ClinVar		 PMID:22542183 PMID:25418537 PMID:25741868 PMID:27453576 PMID:28492532 More... NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:89,981,743...90,008,354 		JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Dias-Logan syndrome ClinVar PMID:25741868 NCBI chr 1:90,009,085...90,011,611
Ensembl chr 1:90,009,085...90,011,611 		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 chr11:34,061,702...34,308,758
Ensembl chr11:47,531,312...47,778,348 		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 chr 4:154,435,936...154,727,987
Ensembl chr 4:154,435,944...154,727,987 		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 chr 8:75,796,347...75,965,347
Ensembl chr 8:75,796,357...75,965,347 		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: MPC1-related condition | ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency OMIM
ClinVar		 PMID:12649063 PMID:22628558 PMID:25741868 PMID:28492532 NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:54,985,301...54,997,064 		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 chr 1:89,116,459...89,139,182
Ensembl chr 1:89,116,482...89,139,182 		JBrowse link
ocular motor apraxia, Cogan type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Oculomotor apraxia - Cogan type ClinVar PMID:25741868 PMID:33024317 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:255,199,164...255,296,981 		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:24431331 PMID:25099252 More... NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		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 Disorders | ClinVar Annotator: match by term: CSNK2A1-related neurodevelopmental syndrome | ClinVar Annotator: match by term: Okur-Chung neurodevelopmental syndrome OMIM
ClinVar		 PMID:11574463 PMID:24395637 PMID:25363768 PMID:25741868 PMID:27048600 More... NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:161,170,405...161,215,698 		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: CHD5-related condition | ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33944996 NCBI chr 5:168,130,851...168,181,705
Ensembl chr 5:168,130,575...168,179,441 		JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:185,752,183...185,755,623
Ensembl chr 2:188,440,918...188,444,358 		JBrowse link
G Hao2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:188,888,848...188,921,567
Ensembl chr 2:188,889,212...188,913,133 		JBrowse link
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,564,348...188,590,872
Ensembl chr 2:188,547,767...188,592,242 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:188,858,574...188,864,694 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 chr 2:188,784,614...188,812,535
Ensembl chr 2:188,784,614...188,790,569 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: PHGDH deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 More... NCBI chr 2:188,595,700...188,624,789
Ensembl chr 2:188,595,700...188,624,789 		JBrowse link
G Reg4 regenerating family member 4 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:28492532 NCBI chr 2:188,507,684...188,521,990
Ensembl chr 2:188,507,684...188,521,990 		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 chr 2:186,576,650...186,687,748
Ensembl chr 2:189,265,373...189,376,466 		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 chr 2:186,459,744...186,543,581
Ensembl chr 2:189,145,371...189,232,970 		JBrowse link
G Zfp697 zinc finger protein 697 ISO ClinVar Annotator: match by term: PHGDH deficiency ClinVar PMID:14645240 PMID:24836451 PMID:28492532 NCBI chr 2:188,659,294...188,692,611
Ensembl chr 2:188,659,076...188,692,611 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17522105 PMID:17576681 PMID:20424326 More... NCBI chr10:91,594,648...91,623,710
Ensembl chr10:91,594,419...91,623,691 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17436247 PMID:17576681 PMID:25152457 PMID:25741868 More... NCBI chr 1:222,623,553...222,646,187
Ensembl chr 1:222,623,556...222,655,693 		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 chr12:32,508,842...32,519,072
Ensembl chr12:32,508,675...32,519,119 		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 chr12:26,828,738...26,834,762
Ensembl chr12:32,464,824...32,470,871 		JBrowse link
G Phkg1 phosphorylase kinase catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,838,822...26,854,547
Ensembl chr12:32,474,921...32,490,653 		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 chr12:32,527,091...32,541,182
Ensembl chr12:32,519,269...32,541,180 		JBrowse link
G Sumf2 sulfatase modifying factor 2 ISO ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar PMID:28492532 NCBI chr12:26,853,561...26,871,835
Ensembl chr12:32,489,671...32,507,928 		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 chr 9:120,550,236...120,569,096
Ensembl chr 9:120,550,328...120,556,383 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762 		JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:24556215 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108 		JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18285828 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:45,447,427...45,507,747 		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 | ClinVar Annotator: match by term: SNIP1-related condition OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:28492532 PMID:29358611 PMID:34570759 NCBI chr 5:142,613,028...142,620,502
Ensembl chr 5:142,613,004...142,620,527 		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 Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:101,673,652...101,699,984 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:102,016,074...102,055,143 		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 chr  X:101,809,192...101,860,935
Ensembl chr  X:101,809,659...101,860,934 		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 chr  X:101,546,809...101,572,760
Ensembl chr  X:101,546,819...101,572,764 		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 chr  X:97,607,577...97,658,117
Ensembl chr  X:101,901,011...101,951,403 		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 chr  X:102,062,497...102,073,915
Ensembl chr  X:102,056,718...102,073,915 		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 chr  X:101,572,338...101,625,571
Ensembl chr  X:101,572,340...101,595,520 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:101,065,263...101,165,269 		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 chr  X:97,766,179...97,768,892
Ensembl chr20:22,034,086...22,034,406 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16497722 PMID:18718938 PMID:21053371 PMID:22091964 PMID:23352160 More... NCBI chr  X:101,399,748...101,425,486
Ensembl chr  X:101,399,853...101,425,484 		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 chr  X:97,135,496...97,185,867
Ensembl chr  X:101,428,785...101,479,151 		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 chr  X:97,660,222...97,675,241
Ensembl chr  X:101,953,508...101,968,407 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:102,011,206...102,015,444 		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 chr  X:97,503,350...97,514,198
Ensembl chr  X:101,796,623...101,807,470 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:101,350,269...101,365,929 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:21053371 PMID:22091964 PMID:23712037 PMID:27179713 PMID:28492532 More... NCBI chr  X:101,385,686...101,395,371
Ensembl chr  X:101,385,694...101,392,627 		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 chr  X:97,341,158...97,353,175
Ensembl chr  X:101,635,283...101,646,461 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:9700606 PMID:10384371 PMID:11443547 PMID:15241655 More... NCBI chr 4:119,229,447...119,233,320
Ensembl chr 4:119,229,447...119,233,179 		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 chr 2:72,818,076...73,820,144
Ensembl chr 2:75,075,595...75,550,720 		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:exon:p.R553H (human)
DNA:missense mutation: :p.P215A (human)
DNA:mutations:5' utr, exon, intron:multiple
DNA:deletions: :multiple
DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human) 		OMIM
ClinVar
RGD		 PMID:2332125 PMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 More... RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702, RGD:11070093 NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696 		JBrowse link
G Immp2l inner mitochondrial membrane peptidase subunit 2 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:63,797,189...64,696,906
Ensembl chr 6:63,797,237...64,697,749 		JBrowse link
G Lrrn3 leucine rich repeat neuronal 3 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25422445 NCBI chr 6:58,489,060...58,520,322
Ensembl chr 6:64,215,878...64,247,614 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Childhood apraxia of speech ClinVar PMID:25741868 PMID:27120335 NCBI chr 2:218,687,413...218,750,104
Ensembl chr 2:218,687,505...218,750,104 		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 chr 5:60,593,338...60,618,946
Ensembl chr 5:60,597,648...60,618,790 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia | ClinVar Annotator: match by term: SETX-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:25326637 PMID:25741868 NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143 		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: FIBP-related condition | ClinVar Annotator: match by term: Tall stature-intellectual disability-renal anomalies syndrome OMIM
ClinVar		 PMID:25741868 PMID:26660953 PMID:27183861 PMID:28492532 PMID:36919607 More... NCBI chr 1:212,197,216...212,201,732
Ensembl chr 1:212,197,416...212,201,731 		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:18059478 PMID:18414213 PMID:24140112 PMID:25741868 PMID:27804958 More... NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:109,663,490...109,674,724 		JBrowse link
Wieacker-Wolff syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome ClinVar PMID:25741868 NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:17,570,263...17,614,860 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome ClinVar PMID:25741868 NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:17,593,136...17,676,161 		JBrowse link
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 | ClinVar Annotator: match by term: ZC4H2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:64,525,725...64,556,037
Ensembl chr  X:64,535,241...64,556,042 		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 chr11:31,165,218...31,171,530
Ensembl chr11:44,651,173...44,657,520 		JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:43,668,014...43,677,382 		JBrowse link
G Cryzl1 crystallin zeta like 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,419,099...44,464,366
Ensembl chr11:44,419,103...44,463,793 		JBrowse link
G Dnajc28 DnaJ heat shock protein family (Hsp40) member C28 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,855,566...30,858,386
Ensembl chr11:44,338,646...44,344,482 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,405,794...44,419,099
Ensembl chr11:44,405,804...44,418,791 		JBrowse link
G Epcip exosomal polycystin 1 interacting protein ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,307,842...30,325,829
Ensembl chr11:43,793,578...43,811,682 		JBrowse link
G Eva1c eva-1 homolog C ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,089,510...30,163,596
Ensembl chr11:43,576,332...43,649,834 		JBrowse link
G Gart phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,351,841...44,377,086
Ensembl chr11:44,351,851...44,377,086 		JBrowse link
G Ifnar1 interferon alpha and beta receptor subunit 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205 		JBrowse link
G Ifnar2 interferon alpha and beta receptor subunit 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,099,574...44,131,941
Ensembl chr11:44,099,753...44,131,937 		JBrowse link
G Ifngr2 interferon gamma receptor 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,265,703...44,283,975
Ensembl chr11:44,265,703...44,283,975 		JBrowse link
G Il10rb interleukin 10 receptor subunit beta ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,132,471...44,154,062
Ensembl chr11:44,132,189...44,154,053 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:44,513,186...44,646,598 		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 chr11:45,003,468...45,015,942
Ensembl chr11:45,014,406...45,016,168 		JBrowse link
G Mis18a MIS18 kinetochore protein A ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:29,968,030...29,981,058
Ensembl chr11:43,454,161...43,476,264 		JBrowse link
G Mrap melanocortin 2 receptor accessory protein ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:43,477,382...43,489,118
Ensembl chr11:43,478,001...43,489,118 		JBrowse link
G Mrps6 mitochondrial ribosomal protein S6 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,778,667...44,834,420
Ensembl chr11:44,781,554...44,834,962 		JBrowse link
G Olig1 oligodendrocyte transcription factor 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,514,379...30,516,521
Ensembl chr11:44,000,281...44,002,592 		JBrowse link
G Olig2 oligodendrocyte transcription factor 2 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:43,961,585...43,964,961
Ensembl chr11:43,958,940...43,968,634 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:43,758,116...43,787,624
Ensembl chr11:43,758,116...43,787,542 		JBrowse link
G Slc5a3 solute carrier family 5 member 3 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:44,799,787...44,802,233
Ensembl chr11:44,790,297...44,818,157 		JBrowse link
G Snora80al1 small nucleolar RNA, H/ACA box 80A like 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr18:60,563,049...60,563,183
Ensembl chr18:62,833,009...62,833,143 		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
DNA:missense mutations:exon 3,4:multiple (human)
DNA:missense mutations:exon 3:multiple (human)
DNA:frameshift mutation:cds:p.Ala1340GlnfsTer26|p.Asp1640GlyfsTer7 (human) 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25590979 PMID:25741868 PMID:25741875 More... RGD:11560855, RGD:11560664, RGD:155641263 NCBI chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127 		JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,192,629...30,269,447
Ensembl chr11:43,678,709...43,755,526 		JBrowse link
G Tmem50b transmembrane protein 50B ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:30,804,835...30,837,675
Ensembl chr11:44,290,807...44,323,607 		JBrowse link
G Urb1 URB1 ribosome biogenesis homolog ISO ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:25741868 NCBI chr11:43,490,633...43,551,398
Ensembl chr11:43,490,633...43,551,767 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          Neurobehavioral Manifestations 4743
            Psychomotor Disorders 195
              3p deletion syndrome 39
              Al-Raqad Syndrome 1
              Alazami-Yuan Syndrome 3
              Asparagine Synthetase Deficiency 2
              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 17
              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 2
              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
              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 1
              PHGDH deficiency 11
              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 26
              apraxia + 36
              cerebellar atrophy, visual impairment, and psychomotor retardation 1
              diphthamide deficiency syndrome 1 1
              fumarase deficiency 7
              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
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