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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;   RDO:0001389
For additional species annotation, visit the Alliance of Genome Resources.


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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chr16:8,674,617...8,784,575
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G CRH corticotropin releasing hormone EXP CTD Direct Evidence: therapeutic CTD PMID:1335535 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,470...49,539,538
JBrowse link
G FOLR1 folate receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19732866 NCBI chr11:72,189,709...72,196,323
Ensembl chr11:72,189,558...72,196,323
JBrowse link
G MECP2 methyl-CpG binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20098342 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8955270 NCBI chr  X:20,149,911...20,267,514
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G VDAC1 voltage dependent anion channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8726225 NCBI chr 5:133,971,871...134,070,987
Ensembl chr 5:133,971,871...134,004,975
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 IAGP ClinVar Annotator: match by term: AL-RAQAD SYNDROME ClinVar
OMIM
PMID:25701870, PMID:25712129, PMID:25741868, PMID:28492532, PMID:30289615 NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005
JBrowse link
G GSEC G-quadruplex forming sequence containing lncRNA IAGP ClinVar Annotator: match by term: AL-RAQAD SYNDROME ClinVar PMID:25701870, PMID:25741868, PMID:28492532 NCBI chr11:126,341,716...126,355,587
Ensembl chr11:126,340,889...126,355,587
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAF6 TATA-box binding protein associated factor 6 IAGP ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr 7:100,107,070...100,127,208
Ensembl chr 7:100,107,070...100,119,841
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 PSEN1 presenilin 1 EXP
IAGP
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 NCBI chr14:73,136,436...73,223,691
Ensembl chr14:73,136,418...73,223,691
JBrowse link
apraxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL11A BAF chromatin remodeling complex subunit BCL11A EXP CTD Direct Evidence: marker/mechanism CTD PMID:27120335 NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
JBrowse link
G FOXP2 forkhead box P2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA
CTD
ClinVar
PMID:17033973, PMID:25741868, PMID:27120335, PMID:28492532, PMID:30311386 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ClinVar Annotator: match by term: Apraxias ClinVar PMID:32581362 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
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) IAGP ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar
OMIM
PMID:24139043, PMID:25741868, PMID:25758715, PMID:27469131, PMID:27522229, PMID:28492532, PMID:28776279, PMID:29375865, PMID:29405484 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
JBrowse link
G CZ1P-ASNS CZ1P-ASNS readthrough IAGP ClinVar Annotator: match by term: Asparagine synthetase deficiency ClinVar PMID:24139043, PMID:25741868, PMID:25758715, PMID:27469131, PMID:27522229, PMID:28492532, PMID:28776279, PMID:29375865, PMID:29405484 NCBI chr 7:97,852,117...97,972,358 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 IAGP DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia
ClinVar Annotator: match by term: Early-onset cerebellar ataxia with hypoalbuminemia
DNA:mutations:multiple:
DNA:missense mutation:cds:p.V320G(human)
ClinVar
OMIM
PMID:11176957, PMID:11294920, PMID:11586299, PMID:11586300, PMID:12196655, PMID:12629250, PMID:14506070, PMID:15164193, PMID:15365154, PMID:15596775, PMID:15699391, PMID:15790557, PMID:15852392, PMID:15996403, PMID:16400613, PMID:16700949, PMID:17242337, PMID:21465257, PMID:23659632, PMID:24033266, PMID:25637650, PMID:25741868, PMID:26285866, PMID:26467025, PMID:28492532, PMID:28652255, PMID:28881617, PMID:29356829, PMID:29482223, PMID:32214227, PMID:12196655, PMID:21465257, PMID:17572444 RGD:1599207, RGD:10054301, RGD:10054300 NCBI chr 9:32,883,872...33,025,120
Ensembl chr 9:32,886,601...33,025,130
JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia ClinVar PMID:32488064 NCBI chr 9:132,261,356...132,356,726
Ensembl chr 9:132,261,356...132,354,986
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 IAGP ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 3 ClinVar
OMIM
PMID:22065524 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 ClinVar
OMIM
PMID:7165045, PMID:10446192, PMID:18414213, PMID:20118933, PMID:22508754, PMID:23224214, PMID:24965255, PMID:25558065, PMID:25728773, PMID:25741868, PMID:26467025, PMID:27066567, PMID:27165045, PMID:27232581, PMID:28492532, PMID:30039206, PMID:31061747 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP ClinVar Annotator: match by term: AU-KLINE SYNDROME OMIM
ClinVar
PMID:8833161, PMID:9218800, PMID:9234727, PMID:10523673, PMID:10817758, PMID:10995551, PMID:11574481, PMID:11867641, PMID:11891683, PMID:12183465, PMID:12853611, PMID:15170860, PMID:15284851, PMID:15364910, PMID:16488668, PMID:18054780, PMID:18414213, PMID:19170760, PMID:19348700, PMID:19854944, PMID:20116073, PMID:21800092, PMID:22102872, PMID:23455423, PMID:24253303, PMID:24288371, PMID:24501764, PMID:24990929, PMID:25741868, PMID:26173930, PMID:26220823, PMID:26954065, PMID:28374925, PMID:28771707, PMID:29904177, PMID:30998304 NCBI chr 9:83,968,083...83,980,630
Ensembl chr 9:83,968,083...83,980,616
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 IAGP ClinVar Annotator: match by term: Bainbridge-Ropers syndrome ClinVar
OMIM
PMID:21706002, PMID:23383720, PMID:24044690, PMID:25326635, PMID:25363760, PMID:25741868, PMID:26647312, PMID:27075689, PMID:27901041, PMID:28100473, PMID:28492532, PMID:28955728, PMID:29305346, PMID:29367179, PMID:32581362, PMID:32860008 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
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 IAGP ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817, PMID:25741868, PMID:25792360, PMID:28492532, PMID:30039206 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
Ensembl chr19:49,818,282...49,840,383
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 IAGP ClinVar Annotator: match by term: Bowen-Conradi syndrome ClinVar
OMIM
PMID:19463982 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,997,428
JBrowse link
C syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD96 CD96 molecule IAGP
EXP
ClinVar Annotator: match by term: C syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17847009, PMID:25741868, PMID:28492532 NCBI chr 3:111,542,118...111,665,996
Ensembl chr 3:111,292,719...111,665,750
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 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar
OMIM
PMID:25741868, PMID:26942288, PMID:27657687, PMID:28492532 NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,527
JBrowse link
G EMC1-AS1 EMC1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar PMID:26942288, PMID:27657687 NCBI chr 1:19,210,386...19,240,704
Ensembl chr 1:19,210,501...19,240,704
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 IAGP ClinVar Annotator: match by term: Chorea, childhood-onset, with psychomotor retardation ClinVar
OMIM
PMID:27123486 NCBI chr 1:100,538,139...100,542,021
Ensembl chr 1:100,538,139...100,542,021
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 IAGP ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
ClinVar
OMIM
PMID:23020937, PMID:24838796, PMID:25741868, PMID:26656649 NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
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 IAGP ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration ClinVar
OMIM
PMID:15902551, PMID:22243965, PMID:22508683, PMID:31194315 NCBI chr 3:155,821,024...155,855,358
Ensembl chr 3:155,821,024...155,854,456
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 IAGP ClinVar Annotator: match by term: DEND syndrome ClinVar PMID:25741868 NCBI chr11:17,385,246...17,389,346
Ensembl chr11:17,385,859...17,389,331
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 IAGP ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:241,628,851...241,640,369
Ensembl chr 1:241,628,853...241,640,254
JBrowse link
G EXO1 exonuclease 1 IAGP ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:241,847,967...241,889,939
Ensembl chr 1:241,847,967...241,895,148
JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Fumarate Hydratase Deficiency
ClinVar Annotator: match by term: Fumarase deficiency
ClinVar Annotator: match by term: Fumaric aciduria
ClinVar
OMIM
PMID:2314594, PMID:8007976, PMID:8200987, PMID:9300800, PMID:9635293, PMID:9665847, PMID:10896297, PMID:11585823, PMID:11865300, PMID:12761039, PMID:12772087, PMID:14632190, PMID:15221078, PMID:15663510, PMID:15761418, PMID:15937070, PMID:15987702, PMID:16029320, PMID:16151915, PMID:16206287, PMID:16237213, PMID:16288654, PMID:16309500, PMID:16403393, PMID:16510303, PMID:16575891, PMID:16597677, PMID:16639410, PMID:16757530, PMID:16876016, PMID:16881969, PMID:17182618, PMID:17270241, PMID:17392716, PMID:17768033, PMID:17960613, PMID:18176756, PMID:18313410, PMID:18366737, PMID:18503824, PMID:18514489, PMID:19151755, PMID:19339519, PMID:19470762, PMID:19939761, PMID:19967458, PMID:20231875, PMID:20549362, PMID:20618355, PMID:21051878, PMID:21304509, PMID:21340633, PMID:21398687, PMID:21404119, PMID:21445611, PMID:21447597, PMID:21520333, PMID:21560188, PMID:21630274, PMID:21733559, PMID:21904061, PMID:21929734, PMID:22069215, PMID:22086304, PMID:22127509, PMID:22243733, PMID:22382802, PMID:22473397, PMID:22528940, PMID:22561013, PMID:22565324, PMID:22595425, PMID:22703879, PMID:22764886, PMID:23203078, PMID:23211287, PMID:23320739, PMID:23612258, PMID:24182348, PMID:24334767, PMID:24346898, PMID:24419633, PMID:24441663, PMID:24625422, PMID:24684806, PMID:24728327, PMID:25004247, PMID:25292446, PMID:25326637, PMID:25477250, PMID:25525159, PMID:25613812, PMID:25637381, PMID:25741868, PMID:25750977, PMID:25852058, PMID:25913776, PMID:25923021, PMID:25985877, PMID:26023681, PMID:26173633, PMID:26323704, PMID:26457356, PMID:26574848, PMID:26700204, PMID:26900816, PMID:26983443, PMID:27037871, PMID:27541980, PMID:28196407, PMID:28266706, PMID:28300276, PMID:28492532, PMID:28747166, PMID:28825054, PMID:28873162, PMID:29423582, PMID:29456767, PMID:29909963, PMID:30050099, PMID:30311386, PMID:30548481, PMID:30761759, PMID:30967997, PMID:31444830, PMID:31746132 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,603...241,519,761
Ensembl chr 1:241,497,603...241,519,761
JBrowse link
G KMO kynurenine 3-monooxygenase IAGP ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:241,531,883...241,595,642
Ensembl chr 1:241,532,134...241,595,642
JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma IAGP ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:241,995,194...242,001,393
Ensembl chr 1:241,995,490...241,999,098
JBrowse link
G OPN3 opsin 3 IAGP ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:241,593,124...241,640,369
Ensembl chr 1:241,590,102...241,677,376
JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
Ensembl chr 1:242,082,986...242,524,697
JBrowse link
G WDR64 WD repeat domain 64 IAGP ClinVar Annotator: match by term: Fumarase deficiency ClinVar PMID:11865300, PMID:12761039, PMID:21398687, PMID:22069215, PMID:28300276, PMID:28492532 NCBI chr 1:241,652,278...241,802,777
Ensembl chr 1:241,652,278...241,802,133
JBrowse link
Genitopatellar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUSP29 dual specificity phosphatase 29 IAGP ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
ClinVar PMID:12210329, PMID:12210330, PMID:16761293, PMID:22077973, PMID:22265014, PMID:22265017, PMID:25424711, PMID:25741868, PMID:28492532, PMID:32424177 NCBI chr10:75,026,427...75,073,827
Ensembl chr10:75,037,836...75,058,514
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Genitopatellar syndrome
ClinVar Annotator: match by term: KAT6B-Related Spectrum Disorders
ClinVar
OMIM
PMID:12210329, PMID:12210330, PMID:16761293, PMID:22077973, PMID:22265014, PMID:22265017, PMID:24033266, PMID:25326635, PMID:25424711, PMID:25473036, PMID:25741868, PMID:25937001, PMID:28492532, PMID:32424177, PMID:22265017 RGD:9588485 NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
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 IAGP ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 ClinVar
OMIM
PMID:25741868, PMID:29100095 NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,590...144,086,216
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 IAGP ClinVar Annotator: match by term: Harel-Yoon syndrome ClinVar
OMIM
PMID:25741868, PMID:27640307, PMID:30311386 NCBI chr 1:1,512,143...1,534,686
Ensembl chr 1:1,512,162...1,534,685
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 IAGP ClinVar Annotator: match by term: Heart and brain malformation syndrome ClinVar
OMIM
PMID:27018474 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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 IAGP ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar
OMIM
PMID:22405087, PMID:24088041, PMID:25351951, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30689204, PMID:31130284, PMID:32214227, PMID:32519519 NCBI chr22:41,468,756...41,528,979
Ensembl chr22:41,469,117...41,528,989
JBrowse link
G POLR3H RNA polymerase III subunit H IAGP ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868, PMID:30689204, PMID:31130284, PMID:32519519 NCBI chr22:41,525,799...41,544,606
Ensembl chr22:41,525,799...41,544,606
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 IAGP ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation ClinVar
OMIM
PMID:26358778 NCBI chr 3:14,651,762...14,672,659
Ensembl chr 3:14,651,746...14,672,659
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 IAGP DNA:nonsense mutation:exon 16: p.Q642X (c.1924C>T) (human)
ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
ClinVar Annotator: match by term: Infantile neuroaxonal neurodegeneration with facial dysmorphism
DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)
ClinVar
OMIM
PMID:23749988, PMID:24075186, PMID:25683120, PMID:25741868, PMID:26923739, PMID:27214504, PMID:27473021, PMID:27558372, PMID:27633718, PMID:28133733, PMID:28492532, PMID:30167850, PMID:23749988, PMID:24075186 RGD:12911215, RGD:12914762 NCBI chr13:101,053,774...101,417,206
Ensembl chr13:101,053,776...101,416,508
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 IAGP 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
PMID:1122901, PMID:14534265, PMID:17448995, PMID:17825559, PMID:19092807, PMID:19348700, PMID:19854944, PMID:21040849, PMID:22542183, PMID:24033266, PMID:24267886, PMID:25741868, PMID:26545877, PMID:26708751, PMID:26708753, PMID:28492532, PMID:28708303, PMID:30167850, PMID:26545877 RGD:11528248 NCBI chr 2:209,771,832...209,999,299
Ensembl chr 2:209,771,832...209,999,300
Ensembl chr 2:209,771,832...209,999,300
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 IAGP ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy
ClinVar
OMIM
PMID:18541960, PMID:23977024, PMID:25558065, PMID:25741868, PMID:27040691, PMID:27040692, PMID:27275012, PMID:27748029, PMID:28492532, PMID:29283439, PMID:32576985, PMID:32860008 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with cardiac arrhythmia ClinVar
OMIM
PMID:10648734, PMID:12904457, PMID:18094259, PMID:21883221, PMID:25741868, PMID:27523599, PMID:27677260 NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,105...52,191,369
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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar
OMIM
PMID:25741868, PMID:27939639, PMID:27939640 NCBI chr 3:9,731,729...9,748,015
Ensembl chr 3:9,731,729...9,748,015
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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies ClinVar
OMIM
PMID:25741868, PMID:28343629 NCBI chr 8:91,070,305...91,087,095
Ensembl chr 8:91,070,196...91,087,095
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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold ClinVar
OMIM
PMID:18265945, PMID:22065775, PMID:23242139, PMID:23907125, PMID:24262437, PMID:24267886, PMID:24911145, PMID:25356970, PMID:25741868, PMID:26823519, PMID:26847329, PMID:27479843, PMID:28135719, PMID:28343630, PMID:28852847, PMID:29752822, PMID:30216591, PMID:30388424 NCBI chr17:60,600,187...60,666,280
Ensembl chr17:60,600,183...60,666,280
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 BAF chromatin remodeling complex subunit BCL11A IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin ClinVar
OMIM
PMID:10744719, PMID:11161790, PMID:11347906, PMID:12196208, PMID:12717432, PMID:15465497, PMID:15548577, PMID:16704730, PMID:17021036, PMID:17964244, PMID:19616629, PMID:20623620, PMID:22491945, PMID:22542183, PMID:23230003, PMID:24267886, PMID:24810580, PMID:25363760, PMID:25533962, PMID:25741868, PMID:25938782, PMID:25979662, PMID:26182416, PMID:27453576, PMID:28589569, PMID:28891213, PMID:28960836, PMID:31474318 NCBI chr 2:60,450,520...60,553,654
Ensembl chr 2:60,450,520...60,554,467
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 IAGP ClinVar Annotator: match by term: Keppen-Lubinsky syndrome OMIM
ClinVar
PMID:19610118, PMID:25620207, PMID:25741868 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345
JBrowse link
Loucks-Innes Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 IAGP ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
ClinVar Annotator: match by term: Developmental delay with short stature, dysmorphic features, and sparse hair
ClinVar
OMIM
PMID:14744934, PMID:24895408, PMID:25558065, PMID:25741868, PMID:26220823 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,110...2,043,430
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 IAGP ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar PMID:25741868 NCBI chr12:990,030...1,495,933
Ensembl chr12:990,509...1,495,933
JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP ClinVar Annotator: match by term: Macrocephaly, dysmorphic facies, and psychomotor retardation ClinVar
OMIM
PMID:25741868, PMID:26138117, PMID:26153217, PMID:27108999, PMID:28492532 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wieacker Wolff syndrome
ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
ClinVar Annotator: match by term: Wieacker syndrome
CTD
ClinVar
OMIM
PMID:1915520, PMID:2018061, PMID:4039531, PMID:23623388, PMID:25741868, PMID:26056227, PMID:28814648, PMID:31206972 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713
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 IAGP ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency ClinVar
OMIM
PMID:12649063, PMID:22628558 NCBI chr 6:166,364,919...166,382,940
Ensembl chr 6:166,364,919...166,383,013
JBrowse link
Oculomotor Apraxia, Cogan Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Ocular motor apraxia ClinVar PMID:25741868, PMID:30311386 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
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 IAGP ClinVar Annotator: match by term: N-terminal acetyltransferase deficiency ClinVar
OMIM
PMID:18414213, PMID:21700266, PMID:23020937, PMID:24431331, PMID:25099252, PMID:25326635, PMID:25489052, PMID:25741868, PMID:25987439, PMID:26522270, PMID:27094817, PMID:28327206, PMID:28492532, PMID:28708303, PMID:28967461, PMID:29558889 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
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 IAGP ClinVar Annotator: match by term: Okur-chung neurodevelopmental syndrome
ClinVar Annotator: match by term: CSNK2A1- Related Disorders
ClinVar
OMIM
PMID:17954558, PMID:21761202, PMID:24395637, PMID:25741868, PMID:27048600, PMID:28135719, PMID:28492532, PMID:28725024, PMID:29240241, PMID:29383814, PMID:29619237 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
JBrowse link
PHGDH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP ClinVar Annotator: match by term: PHGDH DEFICIENCY ClinVar NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
Ensembl chr 1:119,748,002...119,768,905
JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP ClinVar Annotator: match by term: PHGDH DEFICIENCY
ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency
ClinVar
OMIM
PMID:11034457, PMID:11055895, PMID:11751922, PMID:14645240, PMID:19235232, PMID:22393170, PMID:22886422, PMID:24836451, PMID:25741868, PMID:26467025, PMID:26960553, PMID:28135894, PMID:28492532 NCBI chr 1:119,711,934...119,744,218
Ensembl chr 1:119,648,411...119,744,218
Ensembl chr 1:119,648,411...119,744,218
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 IAGP ClinVar Annotator: match by term: Polyhydramnios, megalencephaly, and symptomatic epilepsy ClinVar
OMIM
PMID:17522105, PMID:20424326, PMID:25741868, PMID:27170158, PMID:28492532 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
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 IAGP ClinVar Annotator: match by term: Phosphoserine aminotransferase deficiency ClinVar
OMIM
PMID:17436247, PMID:25741868, PMID:28492532, PMID:32077105 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093
JBrowse link
PSPH deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSPH phosphoserine phosphatase IAGP ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency ClinVar
OMIM
PMID:9222972, PMID:14673469, PMID:24146633, PMID:25080166, PMID:28492532 NCBI chr 7:56,010,487...56,051,604
Ensembl chr 7:56,011,051...56,051,604
JBrowse link
Psychomotor Agitation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP ClinVar Annotator: match by term: Restlessness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17658665 NCBI chr18:904,384...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C EXP CTD Direct Evidence: marker/mechanism CTD PMID:28696432 NCBI chr12:1,969,552...2,697,950
Ensembl chr12:1,970,786...2,697,950
JBrowse link
G MAPT microtubule associated protein tau EXP CTD Direct Evidence: marker/mechanism CTD PMID:24556215 NCBI chr17:45,894,538...46,028,334
Ensembl chr17:45,894,551...46,028,334
Ensembl chr17:45,894,551...46,028,334
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP ClinVar Annotator: match by term: Restlessness ClinVar PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10732818, PMID:10869114, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28696419, PMID:29683944, PMID:30311386 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G RAI1 retinoic acid induced 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18285828 NCBI chr17:17,681,376...17,811,453
Ensembl chr17:17,681,458...17,811,453
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 IAGP ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM
ClinVar
PMID:22279524, PMID:28492532 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:9526012, PMID:10996561, PMID:18414213, PMID:18718967, PMID:19286491, PMID:19292755, PMID:20384727, PMID:20890276, PMID:21499247, PMID:21507155, PMID:22833210, PMID:23033978, PMID:23294109, PMID:23408766, PMID:23933818, PMID:23933819, PMID:23933820, PMID:23940648, PMID:24455489, PMID:24463507, PMID:24504326, PMID:24903190, PMID:25164438, PMID:25596506, PMID:25726841, PMID:25741868, PMID:25904555, PMID:26220384, PMID:26283219, PMID:26467025, PMID:26601054, PMID:26648591, PMID:27171548, PMID:27288002, PMID:27640074, PMID:27839871, PMID:28492532, PMID:28936771, PMID:29124671, PMID:29358611 NCBI chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRPX2 sushi repeat containing protein X-linked 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked
ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia
ClinVar
OMIM
PMID:16497722, PMID:18718938, PMID:23831613, PMID:23871722, PMID:23933820, PMID:24995671, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
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 IAGP
EXP
ClinVar Annotator: match by term: Sepiapterin reductase deficiency
ClinVar Annotator: match by term: Dopa-responsive dystonia due to sepiapterin reductase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9700606, PMID:10384371, PMID:11443547, PMID:15241655, PMID:16049044, PMID:16650784, PMID:16752391, PMID:16917893, PMID:17159114, PMID:18414213, PMID:18502672, PMID:19491146, PMID:21431957, PMID:21677200, PMID:22522443, PMID:23430877, PMID:24212389, PMID:25526675, PMID:25741868, PMID:28492532 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158
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 IAGP ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 5:19,471,296...20,575,886
Ensembl chr 5:19,471,296...20,575,873
JBrowse link
G FOXP2 forkhead box P2 no_association IAGP DNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human)
ClinVar Annotator: match by term: CHILDHOOD APRAXIA OF SPEECH
ClinVar Annotator: match by term: Speech-language disorder 1
DNA:missense mutation:exon:p.R553H (human)
DNA:missense mutation: :p.P215A (human)
DNA:mutations:5' utr, exon, intron:multiple
DNA:deletions: :multiple
ClinVar
OMIM
PMID:2332125, PMID:11586359, PMID:15877281, PMID:16470794, PMID:16984964, PMID:17033973, PMID:17330859, PMID:20858596, PMID:22105961, PMID:22106036, PMID:22144704, PMID:22434823, PMID:22766611, PMID:23918746, PMID:25741868, PMID:28492532, PMID:28708303, PMID:30311386, PMID:16984964, PMID:11586359, PMID:19352412, PMID:15877281, PMID:17033973 RGD:11070093, RGD:11072822, RGD:11536000, RGD:11526862, RGD:11526702 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G IMMP2L inner mitochondrial membrane peptidase subunit 2 IAGP ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 7:110,662,644...111,562,531
Ensembl chr 7:110,662,644...111,562,517
Ensembl chr 7:110,662,644...111,562,517
JBrowse link
G LRRN3 leucine rich repeat neuronal 3 IAGP ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:25422445 NCBI chr 7:111,091,127...111,125,454
Ensembl chr 7:111,091,006...111,125,454
JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 IAGP ClinVar Annotator: match by term: Speech-language disorder 1 ClinVar PMID:27120335 NCBI chr 4:112,539,339...112,636,995
Ensembl chr 4:112,539,333...112,636,995
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 IAGP ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar
OMIM
PMID:26660953, PMID:27183861 NCBI chr11:65,883,740...65,888,510
Ensembl chr11:65,883,741...65,888,539
Ensembl chr11:65,883,741...65,888,539
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 IAGP ClinVar Annotator: match by term: Verheij syndrome ClinVar
OMIM
PMID:10606266, PMID:10668799, PMID:17579712, PMID:18414213, PMID:19348700, PMID:19464398, PMID:19854944, PMID:24140112, PMID:24253303, PMID:25741868, PMID:27804958, PMID:28074499, PMID:28135719, PMID:28327570, PMID:28471317, PMID:28990276, PMID:29300383 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,829,352
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 IAGP ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted ClinVar PMID:25741868 NCBI chr  X:65,034,815...65,507,887
Ensembl chr  X:65,366,638...65,507,887
JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP ClinVar Annotator: match by term: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar
OMIM
PMID:25741868, PMID:31206972 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713
JBrowse link
ZTTK Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR6501 microRNA 6501 IAGP ClinVar Annotator: match by term: ZTTK syndrome ClinVar PMID:27545680 NCBI chr21:33,550,662...33,550,728
Ensembl chr21:33,550,662...33,550,728
JBrowse link
G SON SON DNA and RNA binding protein IAGP ClinVar Annotator: match by term: ZTTK syndrome ClinVar
OMIM
PMID:1944255, PMID:3054499, PMID:9185665, PMID:10509013, PMID:10950926, PMID:11306577, PMID:12606581, PMID:16033648, PMID:19961433, PMID:20053686, PMID:20581448, PMID:20976243, PMID:21504830, PMID:22193954, PMID:22948023, PMID:23001566, PMID:23033978, PMID:23416452, PMID:23424103, PMID:23595291, PMID:23603762, PMID:24013217, PMID:24896178, PMID:25533962, PMID:25590979, PMID:25741868, PMID:25782155, PMID:27256762, PMID:27545676, PMID:27545680 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Pathological Conditions, Signs and Symptoms 9687
      Signs and Symptoms 5971
        Neurologic Manifestations 4794
          Neurobehavioral Manifestations 2868
            Psychomotor Disorders 87
              3p deletion syndrome 0
              Al-Raqad Syndrome 2
              Alazami-Yuan Syndrome 1
              Asparagine Synthetase Deficiency 2
              Au-Kline Syndrome 1
              Bainbridge-Ropers Syndrome 1
              Basel-Vanagaite-Smirin-Yosef syndrome 1
              Bowen-Conradi syndrome 1
              C syndrome 1
              Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 2
              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
              GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
              Genitopatellar Syndrome 2
              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 CARDIAC ARRHYTHMIA 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 1
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1
              Infantile Hypotonia with Psychomotor Retardation + 4
              Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
              Keppen-Lubinsky Syndrome 1
              Kozlowski Rafinski Klicharska Syndrome 0
              Loucks-Innes Syndrome 1
              MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 2
              MacDermot Winter Syndrome 0
              Megarbane Syndrome 0
              Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
              Ogden syndrome 1
              Okur-Chung Neurodevelopmental Syndrome 1
              PHGDH deficiency 2
              PSAT deficiency 1
              PSPH deficiency 1
              Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
              Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 1
              Psychomotor Agitation + 6
              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 2
              apraxia + 17
              fumarase deficiency 8
              infantile cerebellar-retinal degeneration 2
              mitochondrial pyruvate carrier deficiency 1
              sepiapterin reductase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.