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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:syndromic intellectual disability
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Accession:DOID:0050888 term browser browse the term
Definition:An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)



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syndromic intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:32220291 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Anapc7 anaphase promoting complex subunit 7 ISS MouseDO NCBI chr12:34,131,214...34,160,819
Ensembl chr12:34,133,429...34,160,005
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:35887114 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISS OMIM:300486 | OMIM:300860 | OMIM:309583 MouseDO NCBI chr 4:146,456,325...146,472,781
Ensembl chr 4:146,456,318...146,472,649
JBrowse link
G Ccdc82 coiled-coil domain containing 82 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:28397838 PMID:35118659 NCBI chr 8:10,227,727...10,265,963
Ensembl chr 8:10,228,430...10,265,963
JBrowse link
G Ddb1 damage-specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:33743206 NCBI chr 1:207,252,890...207,278,685
Ensembl chr 1:207,252,890...207,278,676
JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
JBrowse link
G Fhip2a FHF complex subunit HOOK interacting protein 2A ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:256,417,533...256,444,109
Ensembl chr 1:256,417,788...256,441,617
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
JBrowse link
G Irak1bp1 interleukin-1 receptor-associated kinase 1 binding protein 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:27900362 PMID:28492532 PMID:28708303 PMID:29209020 NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25728777 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25265257 PMID:25533962 PMID:25741868 PMID:26125038 PMID:26486474 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:28492532 PMID:37091313 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:36067766 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
JBrowse link
G Naa15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 NCBI chr 2:135,458,018...135,520,756
Ensembl chr 2:135,457,948...135,520,756
JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
JBrowse link
G Ophn1 oligophrenin 1 ISS OMIM:300486 | OMIM:300860 | OMIM:309583 MouseDO NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
G Phip pleckstrin homology domain interacting protein ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:27900362 PMID:28492532 PMID:28708303 PMID:29209020 NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Pth2r parathyroid hormone 2 receptor ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 9:66,706,050...66,810,601
Ensembl chr 9:66,706,050...66,810,036
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
JBrowse link
G Syt1 synaptotagmin 1 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:25741868 PMID:30107533 NCBI chr 7:43,813,204...44,358,020
Ensembl chr 7:43,815,785...44,357,803
JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Syndromic intellectual disability ClinVar NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
JBrowse link
Armfield syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam50a family with sequence similarity 50, member A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Armfield syndrome | ClinVar Annotator: match by term: FAM50A-related condition
OMIM
CTD
ClinVar
PMID:10398235 PMID:25741868 PMID:32703943 NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
OMIM
CTD
ClinVar
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
Basilicata-Akhtar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msl3 MSL complex subunit 3 ISO ClinVar Annotator: match by term: Basilicata-Akhtar syndrome OMIM
ClinVar
PMID:25741868 PMID:30224647 PMID:33173220 NCBI chr  X:25,638,029...25,655,698
Ensembl chr  X:25,637,804...25,655,697
JBrowse link
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO
ISS
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders
OMIM:301900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
Bosch-Boonstra-Schaaf optic atrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arb2a ARB2 cotranscriptional regulator A ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
JBrowse link
G Kiaa0825 KIAA0825 homolog ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO
ISS
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
OMIM:615722
OMIM
ClinVar
MouseDO
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,907,504...7,908,738 JBrowse link
Christianson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Hivep2 HIVEP zinc finger 2 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:25741868 NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,305,237...135,314,806
Ensembl chr  X:135,305,325...135,314,743
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Angelman syndrome-like ClinVar PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 More... NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO
ISS
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE | ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type
OMIM:300243
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15319456 PMID:15358621 PMID:16019685 PMID:16199547 More... NCBI chr  X:134,430,677...134,486,747
Ensembl chr  X:134,420,756...134,485,375
JBrowse link
G Vgll1 vestigial-like family member 1 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:134,979,657...134,996,007 JBrowse link
G Zic3 Zic family member 3 ISO ClinVar Annotator: match by term: Christianson syndrome ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,123,662...136,129,627
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049
JBrowse link
developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29100083 PMID:31440733 PMID:31780880 More... NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
JBrowse link
female-restricted syndromic X-linked intellectual disability 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition OMIM
ClinVar
PMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:34008892 More... NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
intellectual developmental disorder with ocular anomalies and distinctive facial features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder OMIM
ClinVar
PMID:25741868 PMID:36067766 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2 OMIM
ClinVar
PMID:25741868 PMID:26358559 PMID:30544257 PMID:31587868 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
intellectual disability-severe speech delay-mild dysmorphism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features OMIM
ClinVar
PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 More... NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube3b ubiquitin protein ligase E3B ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type
OMIM:244450
CTD
ClinVar
MouseDO
OMIM
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 More... NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
JBrowse link
Martsolf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
JBrowse link
G C13h1orf115 similar to human chromosome 1 open reading frame 115 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867
JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173
JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248
JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796
JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,362,810...96,397,284 JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:29300443 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
JBrowse link
Martsolf syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298
JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773
JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 OMIM
ClinVar
PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:22927827 PMID:25741868 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
Martsolf Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 2 OMIM
ClinVar
PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
JBrowse link
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAST1 microtubule associated serine/threonine kinase 1 ISO
ISS
ClinVar Annotator: match by term: MAST1-related condition | ClinVar Annotator: match by term: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
OMIM:618273
OMIM
ClinVar
MouseDO
PMID:25741868 PMID:28492532 PMID:30449657 PMID:32198973 PMID:32901917 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
JBrowse link
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: MEHMO syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 More... NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686
JBrowse link
Miles-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Wieacker-Wolff syndrome | ClinVar Annotator: match by term: Wieacker-Wolff syndrome (spectrum) | ClinVar Annotator: match by term: ZC4H2-related X-linked intellectual disability
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1915520 PMID:2018061 PMID:4039531 PMID:9536098 PMID:17576681 More... NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488
JBrowse link
Mullegama-Klein-Martinez syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:121,373,693...121,401,923 JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Mullegama-Klein-Martinez syndrome | ClinVar Annotator: match by term: STAG2-related disorder OMIM
ClinVar
PMID:25741868 PMID:28296084 PMID:28492532 PMID:29263825 PMID:30158690 More... NCBI chr  X:120,974,687...121,105,677
Ensembl chr  X:120,974,857...121,105,677
JBrowse link
neurodevelopmental disorder with midbrain and hindbrain malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO
ISS
OMIM:617523
ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations
OMIM
MouseDO
ClinVar
PMID:25741868 PMID:28453519 PMID:28492532 NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
JBrowse link
Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor language and loss of hand skills ClinVar
OMIM
PMID:25262651 PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 More... NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
JBrowse link
Paganini-Miozzo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Paganini-Miozzo syndrome OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30471091 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492
JBrowse link
Partington syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partington syndrome | ClinVar Annotator: match by term: X-linked spasticity-intellectual disability-epilepsy syndrome
DNA:duplication:exon:c.428-451dup (human)
OMIM
CTD
ClinVar
RGD
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... RGD:11565843 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
JBrowse link
G Foxn2 forkhead box N2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,018,653...6,065,226
Ensembl chr 6:6,018,879...6,064,278
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:22617343 PMID:28492532 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
JBrowse link
G Gtf2a1l general transcription factor 2A subunit 1 like ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,752,814...5,834,797
Ensembl chr 6:5,752,823...5,836,472
JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,740,147...6,790,664
Ensembl chr 6:6,739,991...6,790,661
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
G Nrxn1 neurexin 1 susceptibility ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17034946 PMID:17576681 PMID:18179900 More... NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
JBrowse link
G Ppp1r21 protein phosphatase 1, regulatory subunit 21 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,901,518...5,970,684
Ensembl chr 6:5,901,518...5,970,684
JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,843,186...5,892,557
Ensembl chr 6:5,843,185...5,892,449
JBrowse link
Prieto syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnk3 WNK lysine deficient protein kinase 3 ISO ClinVar Annotator: match by term: Prieto syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3121220 PMID:25741868 PMID:26350204 PMID:35678782 NCBI chr  X:20,156,260...20,299,252
Ensembl chr  X:20,157,041...20,296,821
JBrowse link
Raynaud-Claes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn4 chloride voltage-gated channel 4 ISO ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME OMIM
ClinVar
PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:19377476 More... NCBI chr  X:23,729,194...23,795,391
Ensembl chr  X:23,729,338...23,793,238
JBrowse link
Renpenning syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pqbp1 polyglutamine binding protein 1 ISO
ISS
ClinVar Annotator: match by term: Renpenning syndrome
OMIM:309500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 More... NCBI chr  X:14,603,516...14,608,091
Ensembl chr  X:14,603,539...14,608,087
JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Renpenning syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32903913 NCBI chr  X:14,608,145...14,616,937
Ensembl chr  X:14,608,055...14,616,678
JBrowse link
Stocco Dos Santos type X-linked intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Gspt2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:59,587,237...59,589,758
Ensembl chr  X:59,587,276...59,594,162
JBrowse link
G Maged1 MAGE family member D1 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:59,422,715...59,429,381
Ensembl chr  X:59,422,717...59,429,364
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:12673656 PMID:16249884 PMID:18414213 PMID:23757202 PMID:23871722 More... NCBI chr  X:15,869,065...16,076,850
Ensembl chr  X:15,869,065...16,076,869
JBrowse link
G Ssx2 SSX family member 2 ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:698,867...715,891
Ensembl chr  X:698,882...715,907
JBrowse link
G Usp27x ubiquitin specific peptidase 27, X-linked ISO ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type ClinVar PMID:25670966 NCBI chr  X:15,123,620...15,126,855
Ensembl chr  X:15,124,596...15,125,912
JBrowse link
syndromic X-linked intellectual developmental disorder 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfx zinc finger protein X-linked ISO ClinVar Annotator: match by term: Intellectual developmental disorder, x-linked, syndromic 37 OMIM
ClinVar
PMID:38325380 NCBI chr  X:58,804,690...58,853,155
Ensembl chr  X:58,804,691...58,853,265
JBrowse link
syndromic X-linked intellectual developmental disorder Bain type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE ClinVar PMID:25741868 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO
ISS
OMIM:300986
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE
OMIM
MouseDO
ClinVar
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:28492532 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
syndromic X-linked intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISS MouseDO NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: X-linked syndromic intellectual disability ClinVar PMID:22452838 PMID:25741868 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
syndromic X-linked intellectual disability 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681
JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809
JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682
JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644
JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115
JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205
JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967
JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660
JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008
JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17236139 PMID:17576681 PMID:17704778 PMID:18414213 More... NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023
JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692
JBrowse link
syndromic X-linked intellectual disability 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26637982 PMID:28492532 More... NCBI chr  X:66,640,915...66,716,543
Ensembl chr  X:66,640,982...66,716,543
JBrowse link
syndromic X-linked intellectual disability 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 OMIM
ClinVar
PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 More... NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
syndromic X-linked intellectual disability 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl10 ribosomal protein L10 susceptibility ISO ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic, 35 ClinVar
OMIM
PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761
JBrowse link
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO
ISS
OMIM:304340
ClinVar Annotator: match by term: Pettigrew syndrome
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
syndromic X-linked intellectual disability 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: GRIA3-related disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17989220 PMID:19022251 PMID:20716669 PMID:24721225 PMID:25326635 More... NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096
JBrowse link
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-related disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked OMIM
ClinVar
PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 More... NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681
JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809
JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682
JBrowse link
G Rhox13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,911,226...116,917,758
Ensembl chr  X:116,911,329...116,917,644
JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:116,507,488...116,513,870
JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,427,941...116,429,164
Ensembl chr  X:116,427,684...116,433,762
JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,327,216...116,330,211
Ensembl chr18:6,326,330...6,326,692
Ensembl chr  X:6,326,330...6,326,692
JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:116,153,255...116,230,115
JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:115,977,510...116,011,205
JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967
JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:116,292,030...116,293,660
JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:116,060,929...116,114,159
JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:116,970,695...117,035,008
JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,114,339...116,125,076
Ensembl chr  X:116,113,875...116,125,070
JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236
JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:116,963,347...116,971,023
JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:115,433,259...115,436,692
JBrowse link
syndromic X-linked intellectual disability Claes-Jensen type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type ClinVar PMID:2563148 PMID:25741868 PMID:26235985 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Kdm5c lysine demethylase 5C ISO
ISS
ClinVar Annotator: match by term: KDM5C-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type
OMIM:300534
CTD Direct Evidence: marker/mechanism
DNA:snp:cds:c.2T>C (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:16541399 More... RGD:9587779 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
syndromic X-linked intellectual disability Hedera type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO DNA:missense mutation:cds:p.P353L (human) RGD PMID:12177367 PMID:19605412 RGD:11565831, RGD:11565840 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type
OMIM
CTD
ClinVar
PMID:9536098 PMID:11782983 PMID:15746149 PMID:17576681 PMID:23901204 More... NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,079,016...9,084,696
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type ClinVar PMID:23901204 PMID:26235985 PMID:28492532 NCBI chr  X:9,588,825...9,726,993
Ensembl chr  X:9,588,825...9,696,711
JBrowse link
syndromic X-linked intellectual disability Lubs type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858
JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977
JBrowse link
G Acot9 acyl-CoA thioesterase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:40,073,197...40,123,573
Ensembl chr  X:40,064,810...40,123,559
JBrowse link
G Acsl4 acyl-CoA synthetase long-chain family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,942,794...106,006,573
Ensembl chr  X:105,942,799...106,006,427
JBrowse link
G Actrt1 actin-related protein T1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:125,584,102...125,585,455
Ensembl chr  X:125,584,065...125,585,457
JBrowse link
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609
JBrowse link
G Adgrg4 adhesion G protein-coupled receptor G4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,734,610...134,864,449
Ensembl chr  X:134,854,736...134,864,449
JBrowse link
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995
JBrowse link
G Agtr2 angiotensin II receptor, type 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,395,512...116,410,697
Ensembl chr  X:116,395,516...116,410,697
JBrowse link
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,435,391...15,445,684
Ensembl chr  X:15,435,410...15,445,684
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,906,320...107,968,232
Ensembl chr  X:107,885,093...107,942,695
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440
JBrowse link
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,465,982...106,571,382
Ensembl chr  X:106,466,699...106,571,487
JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,982,399...109,041,265
Ensembl chr  X:108,984,022...109,041,272
JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,425,684...19,508,459
Ensembl chr  X:19,487,419...19,508,439
JBrowse link
G Apln apelin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
JBrowse link
G Apoo apolipoprotein O ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,157,971...59,262,940
Ensembl chr  X:59,158,049...59,262,940
JBrowse link
G Apool apolipoprotein O-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:77,377,723...77,443,672
Ensembl chr  X:77,377,781...77,443,900
JBrowse link
G Ar androgen receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073
JBrowse link
G Arhgap36 Rho GTPase activating protein 36 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:128,780,148...128,787,169
Ensembl chr  X:128,751,900...128,787,161
JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128
JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,145,447...135,264,636
Ensembl chr  X:135,146,786...135,275,304
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
JBrowse link
G Arl13a ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702
JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299
JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552
JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098
JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912
JBrowse link
G Armcx5 armadillo repeat containing, X-linked 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,709,921...98,714,347
Ensembl chr  X:98,709,841...98,714,674
JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977
JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142
JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,014,485...30,037,808
Ensembl chr  X:29,992,416...30,037,807
JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619
JBrowse link
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,665,345...104,765,271
Ensembl chr  X:104,665,345...104,765,268
JBrowse link
G Atp11c ATPase phospholipid transporting 11C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,564,459...138,752,116
Ensembl chr  X:138,565,836...138,751,204
JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,087,284...117,108,023
Ensembl chr  X:117,057,423...117,108,020
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Awat1 acyl-CoA wax alcohol acyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,668,205...65,674,450
Ensembl chr  X:65,668,205...65,674,450
JBrowse link
G Awat2 acyl-CoA wax alcohol acyltransferase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,481,676...65,490,562
Ensembl chr  X:65,481,929...65,527,625
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Bcorl1 BCL6 co-repressor-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,516,504...127,584,529
Ensembl chr  X:127,537,538...127,584,087
JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,401,122...33,465,427 JBrowse link
G Bex1 brain expressed X-linked 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,219,014...99,220,518
Ensembl chr  X:99,219,014...99,220,958
JBrowse link
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,273,270...99,274,799
Ensembl chr  X:99,273,161...99,274,800
JBrowse link
G Bex4 brain expressed, X-linked 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,131,985...99,133,417
Ensembl chr  X:99,131,942...99,133,531
JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187
JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,227,251...30,290,015
Ensembl chr  X:30,227,251...30,289,993
JBrowse link
G Brs3 bombesin receptor subtype 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,906,817...134,932,321
Ensembl chr  X:134,906,784...134,930,983
JBrowse link
G Brwd3 bromodomain and WD repeat domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:73,768,343...73,861,643
Ensembl chr  X:73,774,340...73,861,622
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,378,123...117,382,620
Ensembl chr  X:117,375,525...117,382,787
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Capn6 calpain 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,380,774...107,405,489
Ensembl chr  X:107,380,774...107,405,489
JBrowse link
G Car5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,474,697...30,534,797
Ensembl chr  X:30,474,784...30,533,837
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,898,296...14,910,244
Ensembl chr  X:14,898,296...14,910,244
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,478,050...15,543,292
Ensembl chr  X:15,478,065...15,542,885
JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
JBrowse link
G Cd40lg CD40 ligand ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More...
G Cdk16 cyclin-dependent kinase 16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,492,814...1,504,309
Ensembl chr  X:1,492,814...1,504,148
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cdx4 caudal type homeo box 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,326,874...68,335,461
Ensembl chr  X:68,326,874...68,335,461
JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657
JBrowse link
G Cetn2 centrin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,769,944...150,774,833
Ensembl chr  X:150,769,953...150,774,919
JBrowse link
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,162,014...1,167,576
Ensembl chr  X:1,161,979...1,167,573
JBrowse link
G Chic1 cysteine-rich hydrophobic domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,362,014...68,406,155
Ensembl chr  X:68,361,969...68,437,887
JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943
JBrowse link
G Chrdl1 chordin-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:106,889,125...106,992,937
Ensembl chr  X:106,889,125...106,992,921
JBrowse link
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:2,396,260...2,432,828
Ensembl chr  X:2,393,874...2,432,840
JBrowse link
G Cited1 Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,350,376...67,355,072
Ensembl chr  X:67,350,373...67,355,162
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Cldn2 claudin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,459,870...103,473,794
Ensembl chr  X:103,459,780...103,474,838
JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,361,967...30,395,264
Ensembl chr  X:30,361,967...30,395,349
JBrowse link
G Cnga2 cyclic nucleotide gated channel subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,696,999...149,715,051
Ensembl chr  X:149,696,997...149,715,051
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:36,908,135...37,148,337
Ensembl chr  X:36,907,850...37,150,555
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G Cpxcr1 CPX chromosome region, candidate 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:81,756,909...81,794,661 JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476
JBrowse link
G Ct47b1 cancer/testis antigen family 47, member B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,651,472...115,655,191
Ensembl chr  X:115,651,482...115,655,188
JBrowse link
G Ct55 cancer/testis antigen 55 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,502,545...133,515,730
Ensembl chr  X:133,502,869...133,515,529
JBrowse link
G Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201
JBrowse link
G Ctps2 CTP synthase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:31,645,873...31,786,733
Ensembl chr  X:31,645,873...31,786,733
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cxhxorf38 similar to human chromosome X open reading frame 38 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,128,070...10,150,904
Ensembl chr  X:10,129,657...10,150,900
JBrowse link
G Cxhxorf49 similar to human chromosome X open reading frame 49 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,911,430...66,915,407
Ensembl chr  X:66,911,431...66,915,293
JBrowse link
G Cxhxorf58 similar to human chromosome X open reading frame 58 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,101,854...59,157,948
Ensembl chr  X:59,101,845...59,157,865
JBrowse link
G Cxhxorf66 similar to human chromosome X open reading frame 66 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,779,374...138,819,595
Ensembl chr  X:138,779,382...138,785,707
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,358,101...13,392,570
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Cylc1 cylicin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,108,111...76,197,431
Ensembl chr  X:76,108,136...76,197,422
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Dach2 dachshund family transcription factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:78,718,963...79,018,023
Ensembl chr  X:78,451,593...79,017,592
JBrowse link
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:123,695,286...123,698,905
Ensembl chr  X:123,695,286...123,698,905
JBrowse link
G Dcaf12l2 DDB1 and CUL4 associated factor 12-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:123,293,761...123,296,550
Ensembl chr  X:123,294,744...123,296,156
JBrowse link
G Dcaf8l1 DDB1 and CUL4 associated factor 8-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:54,488,494...54,491,514
Ensembl chr  X:54,488,781...54,491,141
JBrowse link
G Dcx doublecortin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dgat2l6 diacylglycerol O-acyltransferase 2-like 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,614,430...65,637,962
Ensembl chr  X:65,614,430...65,637,962
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,581,991...15,713,814
Ensembl chr  X:15,583,572...15,712,987
JBrowse link
G Diaph2 diaphanous-related formin 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:92,395,189...93,234,521
Ensembl chr  X:92,395,251...93,229,869
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574
JBrowse link
G Dlg3 discs large MAGUK scaffold protein 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,859,653...65,911,887
Ensembl chr  X:65,860,172...65,910,322
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Dmrtc1a DMRT-like family C1a ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,822,187...67,852,572
Ensembl chr  X:67,822,113...67,852,571
JBrowse link
G Dmrtc1c1 DMRT-like family C1c1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,896,973...67,904,182
Ensembl chr  X:67,896,974...67,904,182
JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629
JBrowse link
G Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518
JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,131,720...115,314,854
Ensembl chr  X:115,131,909...115,314,854
JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:4,488,021...4,488,877
Ensembl chr  X:4,488,021...4,488,877
JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:62,224,763...62,269,333
Ensembl chr  X:62,228,229...62,269,268
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970
JBrowse link
G Efnb1 ephrin B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,257,351...64,270,158
Ensembl chr  X:64,257,351...64,270,157
JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335
JBrowse link
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686
JBrowse link
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713
JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807
JBrowse link
G Enox2 ecto-NOX disulfide-thiol exchanger 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:128,270,941...128,593,074
Ensembl chr  X:128,271,074...128,593,039
JBrowse link
G Eola2 endothelium and lymphocyte associated ASCH domain 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,064,015...149,068,627
Ensembl chr  X:149,064,041...149,068,627
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,573,987...14,578,455
Ensembl chr  X:14,573,987...14,578,374
JBrowse link
G Ercc6l ERCC excision repair 6 like, spindle assembly checkpoint helicase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,245,414...67,261,222
Ensembl chr  X:67,245,414...67,280,756
JBrowse link
G Esx1 ESX homeobox 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,449,298...100,454,452 JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,352,334...138,396,835
Ensembl chr  X:138,352,298...138,396,835
JBrowse link
G Fam120c family with sequence similarity 120 member C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,324,046...20,477,831
Ensembl chr  X:20,323,381...20,477,275
JBrowse link
G Fam199x family with sequence similarity 199, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,384,230...100,419,935
Ensembl chr  X:100,384,225...100,414,938
JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362
JBrowse link
G Fam47a family with sequence similarity 47, member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:42,762,231...42,763,887
Ensembl chr  X:42,762,229...42,763,883
JBrowse link
G Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362
JBrowse link
G Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,023,746...20,066,734
Ensembl chr  X:20,023,746...20,066,566
JBrowse link
G Fgf13 fibroblast growth factor 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:137,276,498...137,800,056
Ensembl chr  X:137,276,511...137,800,391
JBrowse link
G Fgf16 fibroblast growth factor 16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,816,658...70,828,028
Ensembl chr  X:70,817,433...70,878,717
JBrowse link
G Fhl1 four and a half LIM domains 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,555,399...134,614,930
Ensembl chr  X:134,555,479...134,614,928
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Fmr1nb FMR1 neighbor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:147,309,613...147,332,426
Ensembl chr  X:147,309,663...147,332,418
JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,385,241...66,392,115
Ensembl chr  X:66,385,558...66,392,115
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Foxr2 forkhead box R2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163
JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771
JBrowse link
G Frmpd3 FERM and PDZ domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,964,168...104,113,864
Ensembl chr  X:104,043,194...104,111,968
JBrowse link
G Fthl17a ferritin, heavy polypeptide-like 17, member A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:49,595,422...49,596,399
Ensembl chr  X:49,595,718...49,596,266
JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,243,684...14,256,555
Ensembl chr  X:14,244,050...14,252,030
JBrowse link
G Ftx FTX transcript, XIST regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,588,349...68,630,338 JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801
JBrowse link
G Gabra3 gamma-aminobutyric acid type A receptor subunit alpha 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,244,745...150,501,566
Ensembl chr  X:150,261,607...150,501,559
JBrowse link
G Gabre gamma-aminobutyric acid type A receptor subunit epsilon ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,060,035...150,078,773
Ensembl chr  X:150,060,040...150,078,693
JBrowse link
G Gabrq gamma-aminobutyric acid type A receptor subunit theta ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,696,161...150,712,948
Ensembl chr  X:150,696,427...150,709,919
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272
JBrowse link
G Gdpd2 glycerophosphodiester phosphodiesterase domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,826,273...65,835,361
Ensembl chr  X:65,826,574...65,835,361
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Gk glycerol kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,162,089...50,238,707
Ensembl chr  X:50,163,123...50,238,631
JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Gnl3l G protein nucleolar 3 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,961,277...19,994,454
Ensembl chr  X:19,958,603...19,994,508
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798
JBrowse link
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
JBrowse link
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,791,601...14,806,384
Ensembl chr  X:14,791,610...14,806,384
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958
JBrowse link
G Gpr119 G protein-coupled receptor 119 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,852,145...127,858,198
Ensembl chr  X:127,852,145...127,858,198
JBrowse link
G Gpr173 G-protein coupled receptor 173 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,446,261...21,471,119
Ensembl chr  X:21,447,361...21,471,498
JBrowse link
G Gpr174 G protein-coupled receptor 174 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,355,452...72,396,146
Ensembl chr  X:72,355,033...72,397,658
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,079,016...9,084,696
Ensembl chr  X:9,080,254...9,081,240
JBrowse link
G Gprasp1 G protein-coupled receptor associated sorting protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,764,853...98,772,685
Ensembl chr  X:98,709,841...98,772,851
JBrowse link
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,817,668...98,823,814
Ensembl chr  X:98,817,593...98,824,402
JBrowse link
G Gprasp3 G protein-coupled receptor associated sorting protein family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,847,591...98,854,949
Ensembl chr  X:98,817,593...98,854,545
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:120,238,515...120,504,106
Ensembl chr  X:120,238,534...120,504,096
JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,678,896...14,708,747
Ensembl chr  X:14,678,898...14,708,679
JBrowse link
G Grpr gastrin releasing peptide receptor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:30,998,425...31,038,442
Ensembl chr  X:30,998,416...31,038,442
JBrowse link
G Gspt2 G1 to S phase transition 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,587,237...59,589,758
Ensembl chr  X:59,587,276...59,594,162
JBrowse link
G Gucy2f guanylate cyclase 2F ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,710,356...105,808,183
Ensembl chr  X:105,710,356...105,808,183
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923
JBrowse link
G Hdx highly divergent homeobox ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:76,552,539...76,697,177
Ensembl chr  X:76,560,665...76,869,972
JBrowse link
G Heph hephaestin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,151,131...61,402,980
Ensembl chr  X:61,296,345...61,402,980
JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292
JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441
JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Hs6st2 heparan sulfate 6-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,966,547...131,261,629
Ensembl chr  X:130,968,385...131,261,492
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Hsfx3l heat shock transcription factor family, X-linked member 3 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:146,126,163...146,128,629 JBrowse link
G Htatsf1 HIV-1 Tat specific factor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,935,426...134,949,607
Ensembl chr  X:134,935,426...134,949,607
JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287
JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,025,976...149,046,641
Ensembl chr  X:149,025,976...149,046,663
JBrowse link
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139
JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499
JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,348,822...115,408,682
Ensembl chr  X:115,348,860...115,408,681
Ensembl chr11:115,348,860...115,408,681
JBrowse link
G Il13ra2 interleukin 13 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,002,590...111,074,053
Ensembl chr  X:111,002,592...111,072,381
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772
JBrowse link
G Il1rapl2 interleukin 1 receptor accessory protein-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,961,509...102,271,753
Ensembl chr  X:100,961,812...102,271,753
JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823
JBrowse link
G Ints6l integrator complex subunit 6 like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,258,117...134,325,706
Ensembl chr  X:134,258,125...134,309,617
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521
JBrowse link
G Irs4 insulin receptor substrate 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,572,537...66,577,174
Ensembl chr  X:66,572,537...66,577,174
JBrowse link
G Itih6 inter-alpha-trypsin inhibitor heavy chain family member 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,753,322...19,790,381
Ensembl chr  X:19,753,625...19,789,500
JBrowse link
G Itm2a integral membrane protein 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,486,383...72,492,344
Ensembl chr  X:72,486,381...72,492,363
JBrowse link
G Jade3 jade family PHD finger 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,668,873...1,848,781
Ensembl chr  X:1,669,930...1,845,138
JBrowse link
G Jpx JPX transcript, XIST activator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,511,491...68,665,132 JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,661,688...14,678,745
Ensembl chr  X:14,662,357...14,677,233
JBrowse link
G Kcne5 potassium voltage-gated channel subfamily E regulatory subunit 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,930,398...105,931,013
Ensembl chr  X:105,930,398...105,931,013
JBrowse link
G Kdm5c lysine demethylase 5C ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:115,675,427...115,725,925
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,721,746...65,824,277
Ensembl chr  X:65,721,779...65,824,139
JBrowse link
G Klf8 KLF transcription factor 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:17,950,045...18,132,980
Ensembl chr  X:17,958,843...18,133,182
JBrowse link
G Klhl13 kelch-like family member 13 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:113,942,309...114,107,299
Ensembl chr  X:113,942,309...114,107,321
JBrowse link
G Klhl15 kelch-like family member 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,994,726...59,050,207
Ensembl chr  X:58,995,461...59,046,069
JBrowse link
G Klhl34 kelch-like family member 34 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,151,298...37,154,053
Ensembl chr  X:37,151,592...37,153,529
JBrowse link
G Klhl4 kelch-like family member 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:79,429,193...79,719,482
Ensembl chr  X:79,622,113...79,719,480
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522
JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:13,478,499...13,609,934
Ensembl chr  X:13,480,311...13,609,678
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687
JBrowse link
G Ldoc1 LDOC1, regulator of NFKB signaling ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:139,965,509...140,074,355
Ensembl chr  X:139,965,509...140,074,355
JBrowse link
G Lhfpl1 LHFPL tetraspan subfamily member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:108,815,596...108,873,460
Ensembl chr  X:108,815,596...108,873,460
JBrowse link
G LOC100912195 protein BEX1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr 1:110,047,861...110,051,812 JBrowse link
G LOC120099525 small nucleolar RNA SNORA11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,735,030...19,735,144
Ensembl chr  X:19,735,030...19,735,144
JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:115,565,267...115,598,809
JBrowse link
G Lpar4 lysophosphatidic acid receptor 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,033,486...72,046,978
Ensembl chr  X:72,033,486...72,046,977
JBrowse link
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210
JBrowse link
G Luzp4 leucine zipper protein 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:111,280,490...111,321,363
Ensembl chr  X:111,280,549...111,321,359
JBrowse link
G Magea10 MAGE family member A10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,212,708...150,217,954
Ensembl chr  X:150,213,245...150,214,213
JBrowse link
G Magea9 MAGE family member A9 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:142,619,282...142,624,654
Ensembl chr  X:142,619,395...142,624,653
JBrowse link
G Mageb1 MAGE family member B1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,915,789...50,921,863 JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657
JBrowse link
G Mageb18 MAGE family member B18 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,885,991...56,888,245
Ensembl chr  X:56,885,991...56,888,245
JBrowse link
G Mageb2 MAGE family member B2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,827,538...50,833,272
Ensembl chr  X:50,827,563...50,833,151
JBrowse link
G Mageb3 MAGE family member B3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,865,484...50,866,479
Ensembl chr  X:50,865,484...50,866,479
JBrowse link
G Mageb5 MAGE family member B5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,478,928...56,495,736
Ensembl chr  X:56,478,948...56,496,921
JBrowse link
G Mageb6 MAGE family member B6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:56,493,231...56,494,699
Ensembl chr  X:56,492,713...56,494,541
JBrowse link
G Magec2 MAGE family member C2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:140,610,610...140,615,484
Ensembl chr  X:140,606,825...140,615,471
JBrowse link
G Maged1 MAGE family member D1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:59,422,715...59,429,381
Ensembl chr  X:59,422,717...59,429,364
JBrowse link
G Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,733,593...19,741,769
Ensembl chr  X:19,733,597...19,740,477
JBrowse link
G Magee1 MAGE family member E1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,189,242...70,192,789
Ensembl chr  X:70,189,187...70,192,810
JBrowse link
G Magee2 MAGE family member E2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,885,751...69,944,824
Ensembl chr  X:69,942,533...69,944,657
JBrowse link
G Mageh1 MAGE family member H1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:18,350,015...18,351,271
Ensembl chr  X:18,349,774...18,351,516
JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,824,114...14,832,466
Ensembl chr  X:14,824,188...14,831,045
JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699
JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807
JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091
JBrowse link
G Map7d3 MAP7 domain containing 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,619,227...134,647,525
Ensembl chr  X:134,619,227...134,685,841
JBrowse link
G Mbnl3 muscleblind-like splicing regulator 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:130,641,942...130,737,179
Ensembl chr  X:130,648,538...130,737,056
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430
JBrowse link
G Mcf2 MCF.2 cell line derived transforming sequence ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:138,414,077...138,514,828
Ensembl chr  X:138,409,256...138,514,446
JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:117,350,723...117,362,504
Ensembl chr  X:117,350,889...117,362,504
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
CTD
OMIM
ClinVar
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,036,749...10,127,910
Ensembl chr  X:10,036,805...10,126,240
JBrowse link
G Mid1ip1 MID1 interacting protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,060,993...12,063,318
Ensembl chr  X:12,060,883...12,065,774
JBrowse link
G Mid2 midline 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:104,354,692...104,456,757
Ensembl chr  X:104,355,316...104,453,473
JBrowse link
G Mir105 microRNA 105 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,438,529...150,438,601
Ensembl chr  X:150,438,529...150,438,601
JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661
JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167
JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir223 microRNA 223 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996
JBrowse link
G Mir224 microRNA 224 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169
JBrowse link
G Mir322 microRNA 322 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,806,594...132,806,688
Ensembl chr  X:132,806,594...132,806,688
JBrowse link
G Mir3585 microRNA 3585 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:146,662,031...146,662,148
Ensembl chr  X:146,662,031...146,662,148
JBrowse link
G Mir448 microRNA 448 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029
JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,258,778...15,258,857
Ensembl chr  X:15,258,768...15,258,859
JBrowse link
G Mir503 microRNA 503 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,806,303...132,806,373
Ensembl chr  X:132,806,303...132,806,373
JBrowse link
G Mir509 microRNA 509 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 More... NCBI chr  X:146,688,132...146,688,216
Ensembl chr  X:146,688,132...146,688,216
JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393
JBrowse link
G Mir98 microRNA 98 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,981,235...20,981,342
Ensembl chr  X:20,981,235...20,981,342
JBrowse link
G Mirlet7f2 microRNA let-7f-2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,980,632...20,980,714
Ensembl chr  X:20,980,632...20,980,714
JBrowse link
G Mmgt1 membrane magnesium transporter 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:134,408,463...134,420,798
Ensembl chr  X:134,408,466...134,420,729
JBrowse link
G Morc4 MORC family CW-type zinc finger 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,477,366...103,529,026
Ensembl chr  X:103,480,603...103,528,956
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728
JBrowse link
G Mospd1 motile sperm domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,100,200...133,127,960
Ensembl chr  X:133,100,422...133,127,908
Ensembl chr 1:133,100,422...133,127,908
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:10,146,274...10,147,145
Ensembl chr  X:10,146,293...10,147,145
JBrowse link
G Msn moesin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:60,996,043...61,064,011
Ensembl chr  X:60,995,951...61,065,628
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541
JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252
JBrowse link
G Nalf2 NALCN channel auxiliary factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:64,925,100...64,951,074
Ensembl chr  X:64,925,051...64,951,077
JBrowse link
G Nap1l2 nucleosome assembly protein 1-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,174,051...68,176,449
Ensembl chr  X:68,173,987...68,176,666
JBrowse link
G Nap1l3 nucleosome assembly protein 1-like 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:88,347,595...88,350,393
Ensembl chr  X:88,347,598...88,350,393
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
G Nexmif neurite extension and migration factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:69,088,076...69,219,253
Ensembl chr  X:69,088,076...69,112,930
JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992
JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911
JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,373,031...116,392,677
Ensembl chr  X:116,372,839...116,394,945
JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:116,128,798...116,144,628
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236
JBrowse link
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
G Nrk Nik related kinase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:102,365,765...102,462,957
Ensembl chr  X:102,365,765...102,459,657
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
G Nudt11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:16,326,775...16,333,396
Ensembl chr  X:16,326,598...16,333,145
JBrowse link
G Nup62cl nucleoporin 62 C-terminal like ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:103,668,458...103,724,957
Ensembl chr  X:103,668,455...103,724,081
JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,135,953...98,157,117
Ensembl chr  X:98,135,950...98,157,089
JBrowse link
G Nxf3 nuclear RNA export factor 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:99,025,901...99,050,409
Ensembl chr  X:99,025,901...99,039,261
JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526
JBrowse link
G Nxt2 nuclear transport factor 2-like export factor 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:105,855,616...105,862,902
Ensembl chr  X:105,855,608...105,862,899
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362
JBrowse link
G Ogt O-linked N-acetylglucosamine (GlcNAc) transferase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:66,771,278...66,816,148
Ensembl chr  X:66,771,349...66,816,146
JBrowse link
G Ophn1 oligophrenin 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:63,599,746...63,976,678
Ensembl chr  X:63,603,042...63,976,633
JBrowse link
G Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link
G Otud6a OTU deubiquitinase 6A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,514,113...65,516,287
Ensembl chr  X:65,514,191...65,515,063
JBrowse link
G P2ry10 P2Y receptor family member 10 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:72,121,558...72,207,174
Ensembl chr  X:72,111,264...72,212,265
JBrowse link
G P2ry4 pyrimidinergic receptor P2Y4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,681,680...65,717,404
Ensembl chr  X:65,683,232...65,721,748
JBrowse link
G Pabir2 PABIR family member 2 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,989,124...133,015,625
Ensembl chr  X:132,989,124...133,015,580
JBrowse link
G Pabir3 PABIR family member 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:133,020,162...133,083,801
Ensembl chr  X:133,020,190...133,083,805
JBrowse link
G Pabpc1l2a poly(A) binding protein, cytoplasmic 1-like 2A ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:68,023,845...68,026,508 JBrowse link
G Pabpc1l2b poly(A) binding protein cytoplasmic 1 like 2B ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868
G Pabpc5 poly A binding protein, cytoplasmic 5 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:85,637,763...85,641,235
Ensembl chr  X:85,638,574...85,639,722
JBrowse link
G Pak3 p21 (RAC1) activated kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:107,116,308...107,374,342
Ensembl chr  X:107,260,898...107,368,314
JBrowse link
G Pasd1 PAS domain containing repressor 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:149,617,933...149,639,214
Ensembl chr  X:149,620,972...149,638,675
JBrowse link
G Pbdc1 polysaccharide biosynthesis domain containing 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:70,154,106...70,197,827
Ensembl chr  X:70,154,106...70,184,552
JBrowse link
G Pcdh11x protocadherin 11 X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:86,058,348...86,751,078
Ensembl chr  X:86,058,394...86,747,036
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:14,580,036...14,583,478
Ensembl chr  X:14,580,038...14,583,566
JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,378,090...58,471,623
Ensembl chr  X:58,378,116...58,468,935
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:58,486,699...58,553,533
Ensembl chr  X:58,486,554...58,553,557
JBrowse link
G Pdzd11 PDZ domain containing 11 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:65,718,689...65,721,742
Ensembl chr  X:65,704,067...65,721,642
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826
JBrowse link
G Pfkfb1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:19,508,522...19,562,165
Ensembl chr  X:19,508,546...19,562,182
JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682
JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type ClinVar PMID:25741868 NCBI chr  X:20,524,103...20,623,459
Ensembl chr  X:20,524,558...20,623,410
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type