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
Accession: DOID:0050888
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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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
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Anapc7
anaphase promoting complex subunit 7
ISS
MouseDO
NCBI chr12:34,131,214...34,160,819
Ensembl chr12:34,133,429...34,160,005
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:28492532 PMID:31805580 PMID:33880452 More...
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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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
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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
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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
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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
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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
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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
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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
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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 PMID:25741913
NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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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
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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
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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
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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
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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 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
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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
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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:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25099957 PMID:25741868 PMID:25741869 PMID:26648834 PMID:27633282 PMID:27698851 PMID:28492532 PMID:28539120 PMID:28554332 PMID:30630810 PMID:35662002 More...
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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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
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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
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Nr2f1
nuclear receptor subfamily 2, group F, member 1
ISO ISS
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM:615722 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:25741879 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28492532 PMID:28963436 PMID:29410510 PMID:30755392 PMID:31393201 PMID:31729143 PMID:32275123 PMID:32407885 PMID:32712214 PMID:34466801 More...
NCBI chr 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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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
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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 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
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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 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
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Brs3
bombesin receptor subtype 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
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Cd40lg
CD40 ligand
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Angelman syndrome-like
ClinVar
PMID:15499549 PMID:16015284 PMID:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25657822 PMID:25741868 PMID:26467025 PMID:27770071 PMID:28492532 More...
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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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 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
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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 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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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
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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 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
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Map7d3
MAP7 domain containing 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
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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 PMID:24123890 PMID:28492532 More...
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Angelman syndrome-like
ClinVar
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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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 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:21465648 PMID:24123876 PMID:24123890 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:27854218 PMID:28492532 PMID:29275387 PMID:29588952 PMID:32581362 PMID:32776513 PMID:32860008 PMID:34797406 PMID:35032046 PMID:35334527 More...
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
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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 PMID:24123890 PMID:28492532 More...
NCBI chr X:134,979,657...134,996,007
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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: Christianson syndrome
ClinVar
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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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
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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 PMID:33798445 PMID:34034154 PMID:34182312 PMID:34275143 PMID:34382076 PMID:34906498 More...
NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:34008892
NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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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
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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:31587868
NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 PMID:20950788 PMID:24214399 PMID:24498627 PMID:25131622 PMID:25326635 PMID:25363768 PMID:25575603 PMID:25741868 PMID:25767709 PMID:26633542 PMID:26647308 PMID:27657687 PMID:27824329 PMID:28492532 PMID:28653555 PMID:28708303 PMID:28714951 PMID:28735298 PMID:28741757 PMID:28884888 PMID:29090079 PMID:29142287 PMID:30385778 PMID:30564305 PMID:31199603 PMID:31474318 PMID:31618753 PMID:32860008 PMID:33427368 PMID:34109629 PMID:34580403 PMID:35991577 More...
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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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 PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:25741915 PMID:28003368 PMID:28492532 PMID:30792901 PMID:38177409 More...
NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Rab3gap2
RAB3 GTPase activating non-catalytic protein subunit 2
ISO
ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 PMID:24033266 PMID:24891604 PMID:25533962 PMID:25741868 PMID:28492532 PMID:29300443 PMID:29419336 PMID:32740904 PMID:32870266 More...
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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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
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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
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Anos1
anosmin 1
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
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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
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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
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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
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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
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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
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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 PMID:29300443 PMID:32740904 More...
NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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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
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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
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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 PMID:30730599 PMID:33306828 More...
NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169
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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
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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
NCBI chr X:58,916,513...58,939,923
Ensembl chr X:58,917,490...58,940,686
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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 PMID:19377476 PMID:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 PMID:36250278 More...
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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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
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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 PMID:30447054 PMID:30765867 PMID:31334757 PMID:33619735 More...
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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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
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Gabbr2
gamma-aminobutyric acid type B receptor subunit 2
susceptibility
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 PMID:28856709 PMID:29100083 PMID:29369404 PMID:34008892 PMID:35414446 More...
NCBI chr 5:60,947,517...61,288,104
Ensembl chr 5:60,947,526...61,288,104
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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
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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 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12640086 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:17331656 PMID:17480217 PMID:20506206 PMID:21204215 PMID:25741868 PMID:26029707 PMID:28492532 PMID:24528893 More...
RGD:11565843
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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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
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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
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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
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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
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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
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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
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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
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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
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Nrxn1
neurexin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NRXN1-related condition | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
CTD OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17034946 PMID:17576681 PMID:18179900 PMID:18414213 PMID:18490107 PMID:19896112 PMID:20347009 PMID:20468056 PMID:20848651 PMID:21288692 PMID:21424692 PMID:21681106 PMID:21827697 PMID:21964664 PMID:22405623 PMID:22504536 PMID:22617343 PMID:23207424 PMID:23472757 PMID:23495017 PMID:23533028 PMID:23849776 PMID:24832020 PMID:25149956 PMID:25326635 PMID:25408897 PMID:25418537 PMID:25533962 PMID:25614873 PMID:25640679 PMID:25661985 PMID:25741868 PMID:26185613 PMID:26325558 PMID:26350204 PMID:26467025 PMID:26742492 PMID:27195815 PMID:28289584 PMID:28492532 PMID:29221905 PMID:29924869 PMID:30031152 PMID:30564305 PMID:30709877 PMID:31130284 PMID:32942984 PMID:33004838 PMID:33739554 PMID:36703223 More...
NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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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
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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
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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
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:23647072 PMID:25644381 PMID:25741868 PMID:25741869 PMID:26633542 PMID:27550844 PMID:28492532 PMID:29314583 PMID:31452935 PMID:31690835 PMID:31780880 PMID:31785789 PMID:33504798 PMID:33880059 PMID:36385166 More...
NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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Pqbp1
polyglutamine binding protein 1
ISO ISS
OMIM:309500 ClinVar Annotator: match by term: Renpenning syndrome CTD Direct Evidence: marker/mechanism
OMIM MouseDO ClinVar CTD
PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 PMID:15355434 PMID:15782410 PMID:16199547 PMID:16493439 PMID:16740914 PMID:20410308 PMID:20950397 PMID:21267006 PMID:21315190 PMID:21836667 PMID:24088041 PMID:24781215 PMID:25326635 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26633545 PMID:28492532 PMID:30143497 PMID:31230720 PMID:32041777 PMID:32903913 PMID:33668121 PMID:34470565 More...
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:25670966 PMID:25741868 PMID:26740508 PMID:36209347 More...
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
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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
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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
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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
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Hnrnph2
heterogeneous nuclear ribonucleoprotein H2
ISO ISS
OMIM:300986 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE
OMIM MouseDO CTD ClinVar
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:28492532 PMID:29938792 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 PMID:33504798 PMID:33728377 PMID:34008892 PMID:34907471 More...
NCBI chr X:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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Arx
aristaless related homeobox
ISS
MouseDO
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
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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
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Akap14
A-kinase anchoring protein 14
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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Atp1b4
ATPase Na+/K+ transporting family member beta 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
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C1galt1c1
C1GALT1-specific chaperone 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787
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Cul4b
cullin 4B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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Lamp2
lysosomal-associated membrane protein 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Mcts1
MCTS1, re-initiation and release factor
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504
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Ndufa1
NADH:ubiquinone oxidoreductase subunit A1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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Nkap
NFKB activating protein
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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Nkrf
NFKB repressing factor
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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Rhox13
Rhox homeobox family member 13
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
G
Rhoxf2b
Rhox homeobox family member 2B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
G
Rnf113a1
ring finger protein 113A1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
G
Rpl39
ribosomal protein L39
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
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
G
Septin6
septin 6
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
G
Sowahd
sosondowah ankyrin repeat domain family member D
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
G
Tmem255a
transmembrane protein 255A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
G
Ube2a
ubiquitin-conjugating enzyme E2A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
G
Upf3b
UPF3B, regulator of nonsense mediated mRNA decay
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 PMID:22957832 PMID:25741868 PMID:26012578 PMID:26350204 PMID:28492532 PMID:31737052 More...
NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
G
Zbtb33
zinc finger and BTB domain containing 33
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14
ClinVar
PMID:28492532
NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
G
Nono
non-POU domain containing, octamer-binding
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 PMID:28492532 PMID:31883306 PMID:32238909 More...
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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 PMID:17617514 PMID:18414213 PMID:18428203 PMID:23756445 PMID:25741868 PMID:33847015 More...
NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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
G
Gria3
glutamate ionotropic receptor AMPA type subunit 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GRIA3-Related Disorder | ClinVar Annotator: match by term: GRIA3-related condition | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94
OMIM CTD ClinVar
PMID:17989220 PMID:19022251 PMID:20716669 PMID:24721225 PMID:25326635 PMID:25741868 PMID:25985138 PMID:26467025 PMID:28492532 PMID:28708303 PMID:29016847 PMID:32977175 PMID:35031858 More...
NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
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:25385192 PMID:28492532
NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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:25385192 PMID:28492532
NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
G
C1galt1c1
C1GALT1-specific chaperone 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 PMID:17576681 PMID:18414213 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28330790 PMID:28492532 PMID:28817236 More...
NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
G
Dock11
dedicator of cytokinesis 11
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854
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: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
G
Kiaa1210
KIAA1210 homolog
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925
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:25385192 PMID:28492532
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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:25385192 PMID:28492532
NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809
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:25385192 PMID:28492532
NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504
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:25385192 PMID:28492532
NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
G
Nkap
NFKB activating protein
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
G
Nkrf
NFKB repressing factor
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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:25385192 PMID:28492532
NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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:25385192 PMID:28492532
NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
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:25385192 PMID:28492532
NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
G
Rnf113a1
ring finger protein 113A1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
G
Rpl39
ribosomal protein L39
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 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
G
Septin6
septin 6
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
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:25385192 PMID:28492532
NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205
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:25385192 PMID:28492532
NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967
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:25385192 PMID:28492532
NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
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:25385192 PMID:28492532
NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
G
Tmem255a
transmembrane protein 255A
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
G
Ube2a
ubiquitin-conjugating enzyme E2A
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type
ClinVar
PMID:17236139 PMID:25385192 PMID:28492532
NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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:25385192 PMID:28492532
NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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:25385192 PMID:28492532
NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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:25385192 PMID:28492532
NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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
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 PMID:17244608 PMID:18203167 PMID:18414213 PMID:18697827 PMID:19826449 PMID:21575681 PMID:23356856 PMID:24583395 PMID:25644381 PMID:25666439 PMID:25741868 PMID:25741873 PMID:28492532 PMID:28708303 PMID:29304373 PMID:31419599 PMID:32279304 PMID:34356104 PMID:36672956 PMID:38177409 PMID:22326837 More...
RGD:9587779
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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
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 PMID:25741868 PMID:26235985 PMID:26467025 PMID:26467484 PMID:28492532 PMID:30985297 More...
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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 PMID:30788845 More...
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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
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
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
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 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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
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 PMID:29141583 PMID:30788845 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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,769,944...150,774,833
Ensembl chr X:150,769,953...150,774,919
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,696,999...149,715,051
Ensembl chr X:149,696,997...149,715,051
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
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
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
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
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
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
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
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
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 PMID:30788845 More...
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:30788845 More...
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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
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
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
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
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
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
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
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
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
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
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 PMID:30788845 More...
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,064,015...149,068,627
Ensembl chr X:149,064,041...149,068,627
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
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
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
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
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
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
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 PMID:30788845 More...
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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
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 PMID:30788845 More...
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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
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
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
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
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 PMID:30788845 More...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:147,240,239...147,278,057
Ensembl chr X:147,240,301...147,278,050
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:147,309,613...147,332,426
Ensembl chr X:147,309,663...147,332,418
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
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
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
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
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
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
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
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
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
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 PMID:30788845 More...
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,244,745...150,501,566
Ensembl chr X:150,261,607...150,501,559
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,060,035...150,078,773
Ensembl chr X:150,060,040...150,078,693
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,696,161...150,712,948
Ensembl chr X:150,696,427...150,709,919
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
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 PMID:30788845 More...
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,368,900...149,373,486
Ensembl chr X:149,368,900...149,373,486
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,296,303...149,301,290
Ensembl chr X:149,296,375...149,301,292
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
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
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
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
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
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 PMID:30788845 More...
NCBI chr X:146,126,163...146,128,629
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,025,976...149,046,641
Ensembl chr X:149,025,976...149,046,663
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
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
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 PMID:30788845 More...
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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 PMID:30788845 More...
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:139,965,509...140,074,355
Ensembl chr X:139,965,509...140,074,355
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,212,708...150,217,954
Ensembl chr X:150,213,245...150,214,213
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:142,619,282...142,624,654
Ensembl chr X:142,619,395...142,624,653
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:140,610,610...140,615,484
Ensembl chr X:140,606,825...140,615,471
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
Mecp2
methyl CpG binding protein 2
susceptibility
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 PMID:4413922 PMID:8177735 PMID:9038338 PMID:9536098 PMID:9546328 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12552569 PMID:12567420 PMID:12673788 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12884430 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15737703 PMID:15866439 PMID:16077729 PMID:16122633 PMID:16183801 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:17084570 PMID:17089071 PMID:17101771 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17505203 PMID:17576681 PMID:17881312 PMID:17914728 PMID:17986102 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18652533 PMID:18810657 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20116947 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21695138 PMID:21764336 PMID:21831886 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22516699 PMID:22525432 PMID:22679399 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24328834 PMID:24399845 PMID:24511209 PMID:24621584 PMID:24626160 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25541993 PMID:25634563 PMID:25741868 PMID:25741916 PMID:26175308 PMID:26347316 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26795593 PMID:26800272 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27247049 PMID:27255190 PMID:27353517 PMID:27442528 PMID:27465203 PMID:27761913 PMID:27781091 PMID:27799067 PMID:27929079 PMID:28089766 PMID:28135719 PMID:28257338 PMID:28351539 PMID:28394482 PMID:28465761 PMID:28492532 PMID:28785396 PMID:28831199 PMID:29046627 PMID:29141583 PMID:29655203 PMID:29720203 PMID:29758562 PMID:30081849 PMID:30405208 PMID:30536762 PMID:30564305 PMID:30788845 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31535341 PMID:31690835 PMID:32214227 PMID:32393352 PMID:32472557 PMID:32477112 PMID:32581362 PMID:32860008 PMID:34008892 PMID:34324427 PMID:34837432 More...
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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
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 PMID:30788845 More...
NCBI chr X:146,662,031...146,662,148
Ensembl chr X:146,662,031...146,662,148
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
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
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
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 PMID:30788845 More...
NCBI chr X:146,688,132...146,688,216
Ensembl chr X:146,688,132...146,688,216
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
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
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 PMID:29141583 PMID:30788845 More...
NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541
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 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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
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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
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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
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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
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
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
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
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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
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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
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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
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
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
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 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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
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
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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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,617,933...149,639,214
Ensembl chr X:149,620,972...149,638,675
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
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
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
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
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
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
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
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
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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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
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
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
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
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
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
G
Phka1
phosphorylase kinase regulatory subunit alpha 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455
G
Phka2
phosphorylase kinase regulatory subunit alpha 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
G
Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
G
Pim2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
G
Pin4
peptidylprolyl cis/trans isomerase, NIMA-interacting 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:67,232,066...67,238,709
Ensembl chr X:67,232,081...67,238,702
G
Pir
pirin
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
G
Pja1
praja ring finger ubiquitin ligase 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:64,580,938...64,585,846
Ensembl chr X:64,580,849...64,585,833
G
Plac1
placenta enriched 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:132,821,347...132,955,143
Ensembl chr X:132,821,347...132,985,668
G
Plp1
proteolipid protein 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
G
Plp2
proteolipid protein 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
G
Pls3
plastin 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
G
Plxna3
plexin A3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
G
Plxnb3
plexin B3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
G
Pnck
pregnancy up-regulated nonubiquitous CaM kinase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
G
Pnma3
PNMA family member 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
G
Pnma5
PNMA family member 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
G
Pnma6e
PNMA family member 6E
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
G
Pof1b
POF1B, actin binding protein
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:77,683,128...77,749,827
Ensembl chr X:77,683,128...77,749,688
G
Pola1
DNA polymerase alpha 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
G
Porcn
porcupine O-acyltransferase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,285,864...14,298,481
Ensembl chr X:14,285,871...14,298,481
G
Pou3f4
POU class 3 homeobox 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:75,858,646...75,859,923
Ensembl chr X:75,858,646...75,859,923
G
Ppef1
protein phosphatase with EF-hand domain 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
G
Ppp1r3f
protein phosphatase 1, regulatory subunit 3F
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
G
Pqbp1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
G
Praf2
PRA1 domain family, member 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
G
Prdx4
peroxiredoxin 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:40,026,762...40,044,066
Ensembl chr X:40,026,651...40,044,066
G
Prickle3
prickle planar cell polarity protein 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
G
Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
G
Prr32
proline rich 32
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:123,978,010...123,979,928
Ensembl chr X:123,977,985...123,979,942
G
Prrg1
proline rich and Gla domain 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:42,494,256...42,606,612
Ensembl chr X:42,494,256...42,606,588
G
Prrg3
proline rich and Gla domain 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,666,498...149,689,353
Ensembl chr X:149,670,257...149,677,373
G
Psmd10
proteasome 26S subunit, non-ATPase 10
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:104,656,809...104,665,122
Ensembl chr X:104,656,812...104,665,097
G
Ptchd1
patched domain containing 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:39,681,910...39,733,416
Ensembl chr X:39,681,910...39,733,519
G
Pwwp3b
PWWP domain containing 3B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:102,804,416...102,838,580
Ensembl chr X:102,804,520...102,838,574
G
Pwwp4
PWWP domain containing 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,008,141...151,014,223
Ensembl chr X:151,008,123...151,014,216
G
Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
G
Rab9b
RAB9B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
G
Radx
RPA1 related single stranded DNA binding protein, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:103,089,284...103,176,840
Ensembl chr X:103,089,284...103,176,838
G
Rai2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
G
Rap2c
RAP2C, member of RAS oncogene family
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:130,504,554...130,517,671
Ensembl chr X:130,504,698...130,518,328
G
Rbbp7
RB binding protein 7, chromatin remodeling factor
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:31,913,080...31,931,245
Ensembl chr X:31,913,081...31,931,226
G
Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
G
Rbm3
RNA binding motif protein 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
G
Rbm41
RNA binding motif protein 41
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:103,605,732...103,660,381
Ensembl chr X:103,608,585...103,660,381
G
Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
G
Rbmx2
RNA binding motif protein, X-linked 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,888,514...127,896,239
Ensembl chr X:127,888,438...127,896,869
G
Renbp
renin binding protein
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 PMID:31690835 More...
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
G
Reps2
RALBP1 associated Eps domain containing 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:32,049,455...32,322,317
Ensembl chr X:32,049,399...32,317,414
G
Rgn
regucalcin
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,619,030...1,634,456
Ensembl chr X:1,619,032...1,634,450
G
Rhox13
Rhox homeobox family member 13
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
G
Rhoxf2b
Rhox homeobox family member 2B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
G
Ribc1
RIB43A domain with coiled-coils 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
G
Ripply1
ripply transcriptional repressor 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:103,436,731...103,440,904
Ensembl chr X:103,436,729...103,443,349
G
Rlim
ring finger protein, LIM domain interacting
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271
G
Rnf113a1
ring finger protein 113A1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
G
Rnf128
ring finger protein 128
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:103,183,643...103,298,431
Ensembl chr X:103,183,831...103,298,423
G
Rp2
RP2 activator of ARL3 GTPase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,872,582...1,916,704
Ensembl chr X:1,873,306...1,916,688
G
Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
G
Rpl10
ribosomal protein L10
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
G
Rpl36a
ribosomal protein L36A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
G
Rpl39
ribosomal protein L39
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
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
G
Rps4x
ribosomal protein S4, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:67,298,522...67,302,965
Ensembl chr X:67,298,525...67,303,019 Ensembl chr 4:67,298,525...67,303,019
G
Rps6ka3
ribosomal protein S6 kinase A3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
G
Rps6ka6
ribosomal protein S6 kinase A6
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:76,353,316...76,454,502
Ensembl chr X:76,353,760...76,454,484
G
RragB
Ras-related GTP binding B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:18,184,619...18,234,639
Ensembl chr X:18,184,992...18,234,639
G
Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
G
Rtl3
retrotransposon Gag like 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:71,947,343...71,951,008
Ensembl chr X:71,948,253...71,950,121
G
Rtl4
retrotransposon Gag like 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:108,231,052...108,641,768
Ensembl chr X:108,633,651...108,640,050
G
Rtl5
retrotransposon Gag like 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:67,183,948...67,188,747
Ensembl chr X:67,184,154...67,188,809
G
Rtl8a
retrotransposon Gag like 8A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:133,414,027...133,415,240
Ensembl chr X:133,414,030...133,415,240
G
Rtl9
retrotransposon Gag like 9
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:106,708,454...106,720,607
Ensembl chr X:106,714,868...106,719,794
G
S100g
S100 calcium binding protein G
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:31,705,853...31,708,422
Ensembl chr X:31,705,866...31,708,433
G
Sash3
SAM and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,326,815...127,341,521
Ensembl chr X:127,326,859...127,341,519
G
Sat1
spermidine/spermine N1-acetyl transferase 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:40,158,354...40,161,641
Ensembl chr X:40,157,046...40,196,813
G
Satl1
spermidine/spermine N1-acetyl transferase-like 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:77,453,357...77,469,100
Ensembl chr X:77,453,357...77,469,158
G
Scml1
Scm polycomb group protein like 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
G
Scml2
Scm polycomb group protein like 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
G
Septin6
septin 6
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
G
Serpina7
serpin family A member 7
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
G
Sh2d1a
SH2 domain containing 1A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:121,373,693...121,401,923
G
Sh3bgrl1
SH3 domain binding glutamate rich protein like 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:74,167,029...74,263,783
Ensembl chr X:74,166,871...74,263,783
G
Sh3kbp1
SH3 domain-containing kinase-binding protein 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
G
Shroom4
shroom family member 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:15,869,065...16,076,850
Ensembl chr X:15,869,065...16,076,869
G
Slc10a3
solute carrier family 10, 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 PMID:30788845 More...
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
G
Slc16a2
solute carrier family 16 member 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
G
Slc25a14
solute carrier family 25 member 14
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,807,630...127,845,823
Ensembl chr X:127,807,449...127,845,823
G
Slc25a43
solute carrier family 25, member 43
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205
G
Slc25a5
solute carrier family 25 member 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967
G
Slc25a53
solute carrier family 25, member 53
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:100,306,917...100,319,662
Ensembl chr X:100,306,915...100,319,863
G
Slc35a2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
G
Slc38a5
solute carrier family 38, member 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
G
Slc6a14
solute carrier family 6 member 14
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:112,314,643...112,375,412
Ensembl chr X:112,314,691...112,375,096
G
Slc6a8
solute carrier family 6 member 8
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
G
Slc7a3
solute carrier family 7 member 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:66,210,071...66,216,482
Ensembl chr X:66,210,081...66,215,708
G
Slc9a6
solute carrier family 9 member A6
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:134,430,677...134,486,747
Ensembl chr X:134,420,756...134,485,375
G
Slc9a7
solute carrier family 9 member A7
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
G
Slitrk2
SLIT and NTRK-like family, member 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:145,246,448...145,259,983
Ensembl chr X:145,246,460...145,271,220
G
Slitrk4
SLIT and NTRK-like family, member 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:142,706,495...142,718,968
Ensembl chr X:142,706,338...142,718,575
G
Smarca1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:126,980,201...127,066,385
Ensembl chr X:126,994,947...127,066,347
G
Smc1a
structural maintenance of chromosomes 1A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
G
Smpx
small muscle protein, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:37,233,209...37,292,266
Ensembl chr X:37,234,294...37,276,708
G
Sms
spermine synthase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:37,516,949...37,572,657
Ensembl chr X:37,516,931...37,570,822
G
Snx12
sorting nexin 12
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:66,226,995...66,356,945
Ensembl chr X:66,227,053...66,356,950
G
Sowahd
sosondowah ankyrin repeat domain family member D
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
G
Sox3
SRY-box transcription factor 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:139,308,608...139,310,687
Ensembl chr X:139,309,329...139,310,678
G
Spaca5
sperm acrosome associated 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:918,817...922,000
Ensembl chr X:918,817...922,049
G
Spin2a
spindlin family member 2A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:17,511,018...17,513,001
Ensembl chr X:17,511,022...17,513,001
G
Spin2b
spindlin family member 2B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:17,190,573...17,192,351
Ensembl chr X:17,180,474...17,192,351
G
Spin4
spindlin family, member 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:59,888,728...59,892,817
Ensembl chr X:59,891,581...59,892,330
G
Srpk3
SRSF protein kinase 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
G
Srpx
sushi-repeat-containing protein, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
G
Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
G
Ssr4
signal sequence receptor subunit 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
G
Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
G
Ssx2
SSX family member 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:698,867...715,891
Ensembl chr X:698,882...715,907
G
Stag2
STAG2 cohesin complex component
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
G
Stard8
StAR-related lipid transfer domain containing 8
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:64,079,079...64,196,052
Ensembl chr X:64,124,574...64,196,052
G
Steep1
STING1 ER exit protein 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
G
Stk26
serine/threonine kinase 26
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:130,325,064...130,375,674
Ensembl chr X:130,310,885...130,374,291
G
Supt20hl1
Supt20h like 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:58,708,504...58,758,962
Ensembl chr X:58,708,504...58,758,960
G
Supt20hl2
SUPT20H like 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:58,645,548...58,653,436
Ensembl chr X:58,646,432...58,649,965
G
Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
G
Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:141,792,589...141,795,257
G
Syap1
synapse associated protein 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:31,792,180...31,826,672
Ensembl chr X:31,792,193...31,826,667
G
Syn1
synapsin I
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,172,208...1,227,400
Ensembl chr X:1,172,208...1,227,396
G
Syp
synaptophysin
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
G
Sytl4
synaptotagmin-like 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,135,496...97,185,867
Ensembl chr X:97,135,500...97,185,854
G
Sytl5
synaptotagmin-like 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
G
Tab3
TGF-beta activated kinase 1 (MAP3K7) binding protein 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:49,972,414...50,044,658
Ensembl chr X:49,972,330...50,042,056
G
Taf1
TATA-box binding protein associated factor 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
G
Taf7l
TATA-box binding protein associated factor 7-like
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
G
Taf9b
TATA-box binding protein associated factor 9b
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:71,289,290...71,300,142
Ensembl chr X:71,289,290...71,300,604
G
Tafazzin
tafazzin, phospholipid-lysophospholipid transacylase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
G
Tasl
TLR adaptor interacting with endolysosomal SLC15A4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:50,403,962...50,423,141
Ensembl chr X:50,361,248...50,423,269
G
Tbc1d25
TBC1 domain family, member 25
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
G
Tbc1d8b
TBC1 domain family member 8B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133
G
Tbx22
T-box transcription factor 22
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
G
Tceal1
transcription elongation factor A like 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
G
Tceal3
transcription elongation factor A like 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:100,010,677...100,012,637
Ensembl chr X:100,010,690...100,012,654
G
Tceal5
transcription elongation factor A like 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:99,204,422...99,207,373
Ensembl chr X:99,204,429...99,207,353
G
Tceal7
transcription elongation factor A like 7
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:99,228,405...99,230,551
Ensembl chr X:99,228,458...99,230,543
G
Tceal8
transcription elongation factor A like 8
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:99,171,307...99,173,377
Ensembl chr X:99,171,177...99,173,710
G
Tceal9
transcription elongation factor A like 9
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:99,245,645...99,247,720
Ensembl chr X:99,228,458...99,247,763
G
Tcp11x2
t-complex 11 family, X-linked 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:98,591,191...98,640,800
Ensembl chr X:98,591,189...98,640,763
G
Tenm1
teneurin transmembrane protein 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:121,400,466...122,289,877
Ensembl chr X:121,403,649...122,290,207
G
Tent5d
terminal nucleotidyltransferase 5D
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:72,901,287...72,974,562
Ensembl chr X:72,901,241...72,970,573
G
Tex11
testis expressed 11
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:65,932,904...66,196,525
Ensembl chr X:65,932,988...66,196,187
G
Tex13a
testis expressed 13A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:101,598,992...101,601,951
Ensembl chr X:101,600,495...101,601,933
G
Tex13b
testis expressed 13B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:104,490,937...104,511,224
Ensembl chr X:104,490,091...104,494,201
G
Tex28
testis expressed 28
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
G
Tfe3
transcription factor binding to IGHM enhancer 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
G
Tgif2lx2
TGFB-induced factor homeobox 2-like, X-linked 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:84,109,203...84,110,264
Ensembl chr X:84,109,220...84,110,274
G
Thoc2
THO complex subunit 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513
G
Timm17b
translocase of inner mitochondrial membrane 17b
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
G
Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,717,932...97,722,170
Ensembl chr X:97,717,920...97,721,960
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
G
Tktl1
transketolase-like 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
G
Tmem164
transmembrane protein 164
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:106,288,019...106,448,642
Ensembl chr X:106,289,371...106,448,640
G
Tmem185a
transmembrane protein 185A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,143,026...149,167,757
Ensembl chr X:149,143,031...149,167,757
G
Tmem255a
transmembrane protein 255A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
G
Tmem35a
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
G
Tmem47
transmembrane protein 47
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:45,421,405...45,447,900
Ensembl chr X:45,421,405...45,447,900
G
Tmsb15b2
thymosin beta 15B2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:100,298,705...100,300,820
Ensembl chr X:100,298,514...100,300,886
G
Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
G
Trex2
three prime repair exonuclease 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 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
G
Trmt2b
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,425,712...97,483,821
G
Tro
trophinin
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:19,563,395...19,574,507
Ensembl chr X:19,563,517...19,572,953
G
Trpc5
transient receptor potential cation channel, subfamily C, member 5
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:107,946,163...108,230,991
Ensembl chr X:107,939,131...108,230,991
G
Trpc5os
TRPC5 opposite strand
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:108,025,172...108,044,201
Ensembl chr X:108,024,924...108,046,581
G
Tsc22d3
TSC22 domain family, member 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:104,217,898...104,277,886
Ensembl chr X:104,217,925...104,276,861
G
Tspan6
tetraspanin 6
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
G
Tspan7
tetraspanin 7
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:12,208,783...12,306,092
Ensembl chr X:12,208,783...12,306,131
G
Tspyl2
TSPY-like 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:21,439,478...21,445,208
Ensembl chr X:21,439,478...21,445,089
G
Tsr2
TSR2, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
G
Txlng
taxilin gamma
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:31,864,111...31,912,931
Ensembl chr X:31,864,111...31,912,926
G
Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
G
Ube2a
ubiquitin-conjugating enzyme E2A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
G
Ubl4a
ubiquitin-like 4A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
G
Ubqln2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:17,853,086...17,856,505
Ensembl chr X:17,853,114...17,856,505
G
Upf3b
UPF3B, regulator of nonsense mediated mRNA decay
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
G
Uprt
uracil phosphoribosyltransferase homolog
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:69,516,573...69,546,811
Ensembl chr X:69,516,738...69,546,797
G
Usp11
ubiquitin specific peptidase 11
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520
G
Usp26
ubiquitin specific peptidase 26
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:131,317,200...131,363,964
Ensembl chr X:131,319,194...131,363,970
G
Usp27x
ubiquitin specific peptidase 27, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
G
Usp51
ubiquitin specific peptidase 51
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:18,374,940...18,381,472
Ensembl chr X:18,376,930...18,379,888
G
Usp9x
ubiquitin specific peptidase 9, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
G
Utp14a
UTP14A small subunit processome component
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,439,282...127,464,634
Ensembl chr X:127,439,268...127,464,633
G
Uxt
ubiquitously-expressed, prefoldin-like chaperone
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,126,110...1,138,670
Ensembl chr X:1,126,162...1,138,663
G
Vcf2
VCP nuclear cofactor family member 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:19,310,182...19,393,156
Ensembl chr X:19,349,560...19,378,486
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Vegfd
vascular endothelial growth factor D
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
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Vgll1
vestigial-like family member 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:134,979,657...134,996,007
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Vma21
vacuolar ATPase assembly factor VMA21
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:149,491,709...149,501,010
Ensembl chr X:149,491,738...149,499,272
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Vsig1
V-set and immunoglobulin domain containing 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:104,607,031...104,640,128
Ensembl chr X:104,607,031...104,639,249
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Vsig4
V-set and immunoglobulin domain containing 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:61,144,926...61,170,212
Ensembl chr X:61,144,928...61,170,212
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Was
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
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Wdr13
WD repeat domain 13
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,362,484...14,373,727
Ensembl chr X:14,362,860...14,373,727
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Wdr44
WD repeat domain 44
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:114,481,890...114,587,307
Ensembl chr X:114,482,006...114,587,224
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Wdr45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:14,776,280...14,782,202
Ensembl chr X:14,776,293...14,782,202
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Wnk3
WNK lysine deficient protein kinase 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:20,156,260...20,299,252
Ensembl chr X:20,157,041...20,296,821
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Xiap
X-linked inhibitor of apoptosis
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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Xist
X inactive specific transcript
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:68,474,987...68,492,500
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Xk
X-linked Kx blood group antigen, Kell and VPS13A binding protein
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830
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Xkrx
XK related, X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
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Xpnpep2
X-prolyl aminopeptidase 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223
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Yipf6
Yip1 domain family, member 6
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:64,039,602...64,051,715
Ensembl chr X:64,040,952...64,054,702
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Yy2
YY2 transcription factor
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:37,438,425...37,442,047
Ensembl chr X:37,410,811...37,464,430
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Zbtb33
zinc finger and BTB domain containing 33
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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Zc3h12b
zinc finger CCCH-type containing 12B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Zcchc12
zinc finger CCHC-type containing 12
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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Zcchc13
zinc finger CCHC-type containing 13
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:68,643,568...68,644,671
Ensembl chr X:68,643,549...68,665,131
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Zdhhc15
zinc finger DHHC-type palmitoyltransferase 15
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:69,568,086...69,701,756
Ensembl chr X:69,574,124...69,701,756
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Zdhhc9
zinc finger DHHC-type palmitoyltransferase 9
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,352,340...127,388,245
Ensembl chr X:127,352,345...127,388,245
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Zfp157
zinc finger protein 157
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr12:16,248,230...16,279,459
Ensembl chr12:16,248,230...16,270,698
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Zfp182
zinc finger protein 182
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:927,439...1,001,474
Ensembl chr X:899,439...1,000,954
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Zfp185
zinc finger protein 185
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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Zfp275
zinc finger protein 275
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,057,530...151,074,392
Ensembl chr X:151,057,573...151,074,276
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Zfp280c
zinc finger protein 280C
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:127,716,403...127,807,600
Ensembl chr X:127,717,983...127,779,825
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Zfp449
zinc finger protein 449
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:134,120,820...134,140,921
Ensembl chr X:134,122,636...134,140,924
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Zfp711
zinc finger protein 711
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:77,646,300...77,679,398
Ensembl chr X:77,646,558...77,678,045
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Zfp75d
zinc finger protein 75D
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:134,035,116...134,053,765
Ensembl chr X:134,036,143...134,051,519
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Zfp92
ZFP92 zinc finger protein
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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Zfx
zinc finger protein X-linked
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:58,804,690...58,853,155
Ensembl chr X:58,804,691...58,853,265
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Zic3
Zic family member 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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Zmat1
zinc finger, matrin-type 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:98,168,388...98,199,415
Ensembl chr X:98,168,456...98,199,733
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Zmym3
zinc finger MYM-type containing 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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Znf81
zinc finger protein 81
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:1,030,103...1,126,078
Ensembl chr X:1,036,153...1,126,102
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Zxda
zinc finger, X-linked, duplicated A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903
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Zxdb
zinc finger, X-linked, duplicated B
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type
ClinVar
PMID:25741868
NCBI chr X:59,700,765...59,706,737
Ensembl chr X:59,701,178...59,703,871 Ensembl chr X:59,701,178...59,703,871
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Atp6ap2
ATPase H+ transporting accessory protein 2
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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Bcor
BCL6 co-repressor
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Cask
calcium/calmodulin dependent serine protein kinase
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 PMID:19377476 PMID:20029458 PMID:21609947 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22495306 PMID:22709267 PMID:23165780 PMID:23406872 PMID:23871722 PMID:23901204 PMID:24505460 PMID:24781210 PMID:24893065 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:25886057 PMID:26467025 PMID:27173948 PMID:27652284 PMID:27799067 PMID:28132688 PMID:28407358 PMID:28492532 PMID:28783747 PMID:28944139 PMID:29691940 PMID:29878067 PMID:30525188 PMID:30549415 PMID:31474318 PMID:31785789 PMID:33090494 PMID:33504798 PMID:37190086 More...
NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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Cxhxorf38
similar to human chromosome X open reading frame 38
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Gpr34
G protein-coupled receptor 34
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23901204 PMID:28492532 More...
NCBI chr X:9,104,829...9,113,796
Ensembl chr X:9,104,565...9,148,601
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Gpr82
G protein-coupled receptor 82
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:19165920 PMID:20029458 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23901204 PMID:28492532 More...
NCBI chr X:9,079,016...9,084,696
Ensembl chr X:9,080,254...9,081,240
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Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type
ClinVar
PMID:1301956 PMID:9654205 PMID:9974426 PMID:11139254 PMID:11317361 PMID:11641914 PMID:11754108 PMID:15199436 PMID:15241806 PMID:15864114 PMID:17196209 PMID:17335829 PMID:17539906 PMID:17765246 PMID:18206115 PMID:18263977 PMID:19026292 PMID:19118540 PMID:19446849 PMID:20145306 PMID:20506408 PMID:20663204 PMID:21310417 PMID:21865347 PMID:21925044 PMID:22390909 PMID:22698793 PMID:23375686 PMID:24033266 PMID:24507775 PMID:25461735 PMID:25463123 PMID:25487149 PMID:25637381 PMID:25647241 PMID:25741868 PMID:25936317 PMID:26020417 PMID:26036859 PMID:26238499 PMID:26467025 PMID:26723464 PMID:27765764 PMID:27824480 PMID:27998977 PMID:28492532 PMID:28965616 PMID:29261184 PMID:30710474 PMID:31345425 PMID:31447099 PMID:31617323 PMID:31947532 PMID:32041611 PMID:32660911 PMID:32719484 PMID:32770674 PMID:32977124 PMID:33269076 PMID:33303402 PMID:33418990 PMID:33740630 PMID:33975813 PMID:34037665 PMID:34167030 PMID:35535697 PMID:35741760 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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Med14
mediator complex subunit 14
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
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Mpc1l
mitochondrial pyruvate carrier 1-like
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
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Nyx
nyctalopin
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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Usp9x
ubiquitin specific peptidase 9, X-linked
ISO
ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked
ClinVar
PMID:23901204 PMID:28492532
NCBI chr X:9,588,825...9,726,993
Ensembl chr X:9,588,825...9,696,711
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Ube2a
ubiquitin-conjugating enzyme E2A
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Nascimento type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16909393 PMID:20412111 PMID:25741868 PMID:32415735
NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type
ClinVar
PMID:20479760 PMID:25741868 PMID:28588452
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Glra2
glycine receptor, alpha 2
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Pilorge type
OMIM ClinVar
PMID:20479760 PMID:25741868 PMID:26370147 PMID:28135719 PMID:28492532 PMID:28588452 PMID:35294868 More...
NCBI chr X:29,020,377...29,241,666
Ensembl chr X:29,020,557...29,241,666
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:24357419 PMID:28492532
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Apln
apelin
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532
NCBI chr X:127,180,801...127,213,567
Ensembl chr X:127,203,823...127,213,391
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Bcorl1
BCL6 co-repressor-like 1
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:24357419 PMID:28492532
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Elf4
E74 like ETS transcription factor 4
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:24357419 PMID:28492532
NCBI chr X:127,587,401...127,639,063
Ensembl chr X:127,590,650...127,630,200
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Ocrl
OCRL, inositol polyphosphate-5-phosphatase
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532
NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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Sash3
SAM and SH3 domain containing 3
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532
NCBI chr X:127,326,815...127,341,521
Ensembl chr X:127,326,859...127,341,519
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Utp14a
UTP14A small subunit processome component
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:24357419 PMID:28492532
NCBI chr X:127,439,282...127,464,634
Ensembl chr X:127,439,268...127,464,633
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Xpnpep2
X-prolyl aminopeptidase 2
ISO
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
ClinVar
PMID:17436253 PMID:22796527 PMID:24357419 PMID:28492532
NCBI chr X:127,287,765...127,317,036
Ensembl chr X:127,287,979...127,317,223
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Zdhhc9
zinc finger DHHC-type palmitoyltransferase 9
ISO ISS
OMIM:300799 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type
OMIM MouseDO CTD ClinVar
PMID:9536098 PMID:17436253 PMID:17576681 PMID:19377476 PMID:22796527 PMID:24357419 PMID:24811172 PMID:25649377 PMID:25741868 PMID:28492532 PMID:28687527 PMID:29681091 More...
NCBI chr X:127,352,340...127,388,245
Ensembl chr X:127,352,345...127,388,245
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Rbmx
RNA binding motif protein, X-linked
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type
OMIM CTD ClinVar
PMID:10677307 PMID:25256757 PMID:25741868
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Phf8
PHD finger protein 8
ISO ISS
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Siderius type OMIM:300263 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10398231 PMID:16199551 PMID:17594395 PMID:17661819 PMID:25741868 PMID:28492532 PMID:35469323 More...
NCBI chr X:20,524,103...20,623,459
Ensembl chr X:20,524,558...20,623,410
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Sms
spermine synthase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SMS-Related Disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Snyder type
OMIM CTD ClinVar
PMID:5823961 PMID:14508504 PMID:18550699 PMID:19206178 PMID:19377476 PMID:22612257 PMID:23696453 PMID:23805436 PMID:23897707 PMID:25741868 PMID:25888122 PMID:26174906 PMID:26467025 PMID:26761001 PMID:28492532 PMID:31580924 PMID:33624935 PMID:34177437 More...
NCBI chr X:37,516,949...37,572,657
Ensembl chr X:37,516,931...37,570,822
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Aff2
ALF transcription elongation factor 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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Camta1
calmodulin binding transcription activator 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868
NCBI chr 5:161,510,283...162,356,902
Ensembl chr 5:161,510,283...162,356,723
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Huwe1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098 PMID:16700052 PMID:17576681 PMID:18252223 PMID:18414213 PMID:19377476 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25741869 PMID:25985138 PMID:27130160 PMID:27884935 PMID:28492532 PMID:29118367 PMID:29180823 PMID:30797980 PMID:35887114 More...
NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
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Ski
Ski proto-oncogene
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
ISO
ClinVar Annotator: match by term: CHORIOATHETOSIS WITH MENTAL RETARDATION AND ABNORMAL BEHAVIOR | ClinVar Annotator: match by term: HSD10 mitochondrial disease | ClinVar Annotator: match by term: HSD17B10-Related Disorder CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10521307 PMID:11102558 PMID:12112118 PMID:12555940 PMID:12696021 PMID:12872843 PMID:15059617 PMID:15342248 PMID:16148061 PMID:16176262 PMID:17236142 PMID:17618155 PMID:18996107 PMID:20077426 PMID:22132097 PMID:23266819 PMID:24549042 PMID:25526675 PMID:25741868 PMID:26950678 PMID:28333917 PMID:28492532 PMID:31654490 PMID:34765396 More...
NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Lujan Syndrome | ClinVar Annotator: match by term: MED12-related intellectual disability syndrome | ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.N1007S(human)
OMIM ClinVar CTD RGD
PMID:6711603 PMID:10405444 PMID:16199547 PMID:17334363 PMID:17369503 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26338144 PMID:26350204 PMID:27980443 PMID:28369444 PMID:28492532 PMID:30006928 PMID:30729724 PMID:31322785 PMID:31536828 PMID:32174975 PMID:32371413 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:36271811 PMID:17369503 More...
RGD:12910949
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Taf1
TATA-box binding protein associated factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability
OMIM CTD ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26637982 PMID:28492532 PMID:29302074 PMID:31646703 PMID:31985533 PMID:32396742 PMID:33098347 More...
NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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Rpl10
ribosomal protein L10
susceptibility
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
ClinVar OMIM
PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 PMID:26290468 More...
NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Cnksr2
connector enhancer of kinase suppressor of Ras 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HOUGE TYPE
OMIM ClinVar
PMID:25223753 PMID:25644381 PMID:25741868 PMID:28098945 PMID:28492532
NCBI chr X:36,908,135...37,148,337
Ensembl chr X:36,907,850...37,150,555
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Abhd1
abhydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,422,526...25,427,514
Ensembl chr 6:25,422,526...25,427,514
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Adcy3
adenylate cyclase 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,100,089...27,203,686
Ensembl chr 6:27,124,828...27,203,686
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Adgrf3
adhesion G protein-coupled receptor F3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,133,176...26,144,601
Ensembl chr 6:26,133,192...26,144,601
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Agbl5
AGBL carboxypeptidase 5
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738
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Asxl2
ASXL transcriptional regulator 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477
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Atraid
all-trans retinoic acid-induced differentiation factor
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,315,236...25,319,821
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Babam2
BRISC and BRCA1 A complex member 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,369,021...24,788,416
Ensembl chr 6:24,369,022...24,833,951
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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Ccdc121
coiled-coil domain containing 121
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,970,845...24,973,451
Ensembl chr 6:24,970,833...24,973,478
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Cenpa
centromere protein A
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,700,142...25,711,767
Ensembl chr 6:25,700,142...25,711,675
G
Cenpo
centromere protein O
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,203,642...27,218,394
Ensembl chr 6:27,188,537...27,218,314
G
Cgref1
cell growth regulator with EF hand domain 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,431,846...25,443,853
Ensembl chr 6:25,431,799...25,443,852
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Cib4
calcium and integrin binding family member 4
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,842,605...25,903,509
Ensembl chr 6:25,842,622...25,917,206
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Cimip2c
ciliary microtubule inner protein 2C
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,905,294...25,923,615
Ensembl chr 6:25,905,294...25,923,615
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Dnajc27
DnaJ heat shock protein family (Hsp40) member C27
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,068,713...27,098,449
Ensembl chr 6:27,068,686...27,098,449
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Dnajc5g
DnaJ heat shock protein family (Hsp40) member C5 gamma
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,260,087...25,264,251
Ensembl chr 6:25,260,088...25,264,152
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11836534 PMID:15456878 PMID:16199547 PMID:17576681 PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898540 PMID:24606448 PMID:24614070 PMID:24622842 PMID:24656771 PMID:24728327 PMID:25363760 PMID:25650308 PMID:25741868 PMID:26619011 PMID:26689913 PMID:26822784 PMID:26866722 PMID:26876596 PMID:26912663 PMID:27317772 PMID:27701732 PMID:27771989 PMID:27991732 PMID:28252636 PMID:28432085 PMID:28475857 PMID:28492532 PMID:28941052 PMID:29900417 PMID:30185810 PMID:30478443 PMID:30705090 PMID:31582562 PMID:31620784 PMID:31640986 PMID:31685998 PMID:31861499 PMID:31961069 PMID:32123902 PMID:32385248 PMID:32435502 PMID:32581362 PMID:32860008 PMID:33238114 PMID:34092059 PMID:34315901 PMID:34788385 PMID:35556126 PMID:36528185 More...
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dpysl5
dihydropyrimidinase-like 5
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,575,104...25,659,422
Ensembl chr 6:25,575,104...25,659,422
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Drc1
dynein regulatory complex subunit 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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Dtnb
dystrobrevin, beta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:26,566,418...26,763,467
Ensembl chr 6:26,566,925...26,766,335
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Efr3b
EFR3 homolog B
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:26,947,436...27,021,113
Ensembl chr 6:26,948,540...27,020,933
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Eif2b4
eukaryotic translation initiation factor 2B subunit delta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,183,177...25,188,832
Ensembl chr 6:25,183,186...25,188,829
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Emilin1
elastin microfibril interfacer 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698
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Fndc4
fibronectin type III domain containing 4
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Garem2
GRB2 associated regulator of MAPK1 subtype 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,228,965...26,255,576
Ensembl chr 6:26,230,048...26,241,762
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Gckr
glucokinase regulator
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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Gpn1
GPN-loop GTPase 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,947,350...24,965,025
Ensembl chr 6:24,947,325...24,965,031
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Gtf3c2
general transcription factor IIIC subunit 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,196,439...25,221,338
Ensembl chr 6:25,197,268...25,220,490
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,153,572...26,187,668
Ensembl chr 6:26,153,578...26,184,869
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Ift172
intraflagellar transport 172
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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Itsn2
intersectin 2
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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Kcnk3
potassium two pore domain channel subfamily K member 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,761,487...25,799,153
Ensembl chr 6:25,763,228...25,799,153
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Khk
ketohexokinase
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,445,298...25,455,834
Ensembl chr 6:25,445,300...25,455,717
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Kif3c
kinesin family member 3C
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,367,092...26,406,033
Ensembl chr 6:26,366,531...26,406,130
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Krtcap3
keratinocyte associated protein 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
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Mapre3
microtubule-associated protein, RP/EB family, member 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,513,800...25,558,876
Ensembl chr 6:25,513,800...25,558,881
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Mpv17
mitochondrial inner membrane protein MPV17
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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Mrpl33
mitochondrial ribosomal protein L33
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,825,800...24,833,994
Ensembl chr 6:24,825,827...24,833,834
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Ncoa1
nuclear receptor coactivator 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,232,609...27,507,992
Ensembl chr 6:27,232,611...27,475,664
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Nrbp1
nuclear receptor binding protein 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,122,635...25,133,209
Ensembl chr 6:25,122,635...25,133,182
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Ost4
oligosaccharyltransferase complex subunit 4, non-catalytic
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,471,254...25,472,478
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Otof
otoferlin
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
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Plb1
phospholipase B1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,087,051...24,227,167
Ensembl chr 6:24,089,214...24,210,117
G
Pomc
proopiomelanocortin
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417 PMID:32435502
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Ppm1g
protein phosphatase, Mg2+/Mn2+ dependent, 1G
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,153,556...25,173,763
Ensembl chr 6:25,153,556...25,173,761
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Ppp1cb
protein phosphatase 1 catalytic subunit beta
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824
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Preb
prolactin regulatory element binding
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,418,805...25,422,594
Ensembl chr 6:25,418,776...25,422,590
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Prr30
proline rich 30
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,415,069...25,417,582
Ensembl chr 6:25,414,868...25,417,585
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Ptrhd1
peptidyl-tRNA hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:24614070 PMID:26866722 PMID:28492532 PMID:29900417
NCBI chr 6:27,218,417...27,221,805
Ensembl chr 6:27,218,417...27,221,805
G
Rab10
RAB10, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,267,081...26,319,739
Ensembl chr 6:26,266,859...26,320,193
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Rbks
ribokinase
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,747,651...24,824,290
Ensembl chr 6:24,747,293...24,824,290
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Selenoi
selenoprotein I
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314
G
Slc30a3
solute carrier family 30 member 3
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,264,310...25,284,720
Ensembl chr 6:25,275,528...25,284,720
G
Slc35f6
solute carrier family 35, member F6
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,725,822...25,737,720
Ensembl chr 6:25,725,819...25,737,730
G
Slc4a1ap
solute carrier family 4 member 1 adaptor protein
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,905,941...24,933,651
Ensembl chr 6:24,905,941...24,933,815
G
Slc5a6
solute carrier family 5 member 6
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,319,187...25,331,713
Ensembl chr 6:25,320,442...25,331,712
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Snx17
sorting nexin 17
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030
G
Spata31h1
SPATA31 subfamily H member 1
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,023,718...25,040,928
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Supt7l
SPT7 like, STAGA complex subunit gamma
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,933,941...24,944,656
Ensembl chr 6:24,933,923...24,944,654
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Tcf23
transcription factor 23
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,397,889...25,406,639
Ensembl chr 6:25,397,937...25,405,880
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Tmem214
transmembrane protein 214
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,501,575...25,510,444
Ensembl chr 6:25,502,698...25,510,444
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Trim54
tripartite motif-containing 54
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,239,340...25,258,511
Ensembl chr 6:25,239,340...25,258,511
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Ucn
urocortin
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,238,120...25,238,950
Ensembl chr 6:25,238,120...25,238,950
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Zfp512
zinc finger protein 512
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:24,976,903...25,007,913
Ensembl chr 6:24,976,906...25,007,819
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Zfp513
zinc finger protein 513
ISO
ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome
ClinVar
PMID:28492532
NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439
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Rlim
ring finger protein, LIM domain interacting
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: RLIM-related syndromic intellectual disability | ClinVar Annotator: match by term: TONNE-KALSCHEUER SYNDROME
OMIM CTD ClinVar
PMID:25644381 PMID:25735484 PMID:25741868 PMID:29728705 PMID:29742418
NCBI chr X:68,983,259...69,004,368
Ensembl chr X:68,988,375...69,004,271
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Cisd3
CDGSH iron sulfur domain 3
ISO
ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome
ClinVar
PMID:25741868 PMID:25741909 PMID:28492532
NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550
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Pcgf2
polycomb group ring finger 2
ISO
ClinVar Annotator: match by term: PCGF2-related condition | ClinVar Annotator: match by term: Turnpenny-fry syndrome
OMIM ClinVar
PMID:15525528 PMID:25741868 PMID:25741869 PMID:25741894 PMID:25741909 PMID:28492532 PMID:30343942 More...
NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406
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Pola1
DNA polymerase alpha 1, catalytic subunit
ISO
ClinVar Annotator: match by term: X-linked intellectual disability, van Esch type
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27019227 PMID:28492532 PMID:31006512 More...
NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
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Zc3h12b
zinc finger CCCH-type containing 12B
ISO
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
ClinVar
PMID:25741868
NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
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Zc4h2
zinc finger C4H2-type containing
ISO
ClinVar Annotator: match by term: Wieacker-Wolff syndrome, female-restricted
OMIM ClinVar
PMID:23623388 PMID:25741868 PMID:28814648 PMID:31206972
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
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Hdac8
histone deacetylase 8
ISO
DNA:snp:intron:c.164+5G>A (human)
RGD
PMID:22889856
RGD:13208817
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
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Las1l
LAS1-like, ribosome biogenesis factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Wilson-Turner syndrome
OMIM CTD ClinVar
PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532
NCBI chr X:60,851,969...60,873,717
Ensembl chr X:60,851,962...60,873,687
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Zc3h12b
zinc finger CCCH-type containing 12B
ISO
ClinVar Annotator: match by term: Wilson-Turner syndrome
ClinVar
NCBI chr X:60,615,616...60,849,278
Ensembl chr X:60,615,682...60,844,832
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Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition DNA:deletion:cds:c.2189delA (human) DNA:nonsense mutation:cds:p.W447X (human) DNA:mutations:multiple (human) DNA:insertion:cds:c.2121_2122insG (human)
OMIM ClinVar RGD
PMID:11940089 PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:26467025 PMID:28492532 PMID:29276006 PMID:16353258 PMID:23211637 PMID:20082460 PMID:7954831 More...
RGD:11554031 , RGD:11554030 , RGD:11554029 , RGD:11554024
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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Tsr2
TSR2, ribosome maturation factor
ISO
ClinVar Annotator: match by term: FGD1-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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Iqsec2
IQ motif and Sec7 domain ArfGEF 2
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108
ClinVar
PMID:25741868
NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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Slc9a7
solute carrier family 9 member A7
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 108 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 108
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30335141
NCBI chr X:2,214,064...2,395,052
Ensembl chr X:2,214,441...2,388,012
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Aff2
ALF transcription elongation factor 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 109
OMIM ClinVar
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 PMID:28492532 More...
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109
ClinVar
PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237 PMID:12034572 PMID:14522813 PMID:15115878 PMID:15454649 PMID:15978931 PMID:17964515 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18682522 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29431110 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 More...
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Fgf13
fibroblast growth factor 13
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 110
OMIM ClinVar
PMID:34184986
NCBI chr X:137,276,498...137,800,056
Ensembl chr X:137,276,511...137,800,391
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Zmym3
zinc finger MYM-type containing 3
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 112 | ClinVar Annotator: match by term: ZMYM3-related condition
OMIM ClinVar
PMID:24721225 PMID:25741868 PMID:28492532 PMID:36586412
NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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Cstf2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, x-linked 113
OMIM ClinVar
PMID:32816001
NCBI chr X:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
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Clic2
chloride intracellular channel 2
ISO
ClinVar Annotator: match by term: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:21630357 PMID:22814392 PMID:25741868 PMID:25741909
NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 16
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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Mecp2
methyl CpG binding protein 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome
CTD OMIM ClinVar
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 PMID:4413922 PMID:8177735 PMID:9038338 PMID:9377804 PMID:9546328 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11462237 PMID:11469283 PMID:11524741 PMID:11738860 PMID:11738864 PMID:11738865 PMID:11738866 PMID:11738879 PMID:11738883 PMID:11738885 PMID:11746022 PMID:11772708 PMID:11805248 PMID:11807877 PMID:11885030 PMID:11896459 PMID:11896461 PMID:11913567 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12552569 PMID:12566531 PMID:12567420 PMID:12615169 PMID:12673788 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12884430 PMID:12966523 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:15057977 PMID:15173251 PMID:15211631 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15558314 PMID:15578581 PMID:15689435 PMID:15718369 PMID:15737703 PMID:15866439 PMID:16077729 PMID:16080119 PMID:16122633 PMID:16183801 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16672765 PMID:16690727 PMID:16708070 PMID:16763963 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16966553 PMID:17084570 PMID:17089071 PMID:17101771 PMID:17142618 PMID:17171659 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17881312 PMID:17914728 PMID:17986102 PMID:18058624 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18678449 PMID:18810657 PMID:18842453 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20116947 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20728410 PMID:20815036 PMID:21160487 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21764336 PMID:21831886 PMID:21878110 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22516699 PMID:22525432 PMID:22670143 PMID:22923521 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23488948 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23921973 PMID:24033266 PMID:24321989 PMID:24328834 PMID:24399845 PMID:24453408 PMID:24508304 PMID:24511209 PMID:24621584 PMID:24715477 PMID:24743294 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25634563 PMID:25741868 PMID:25741916 PMID:26175308 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26795593 PMID:26800272 PMID:26842955 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27353517 PMID:27442528 PMID:27465203 PMID:27781091 PMID:27799067 PMID:27929079 PMID:28135719 PMID:28250423 PMID:28351539 PMID:28394482 PMID:28465761 PMID:28492532 PMID:28785396 PMID:28831199 PMID:29046627 PMID:29482495 PMID:29655203 PMID:29720203 PMID:29758562 PMID:29961512 PMID:30081849 PMID:30083362 PMID:30536762 PMID:30564305 PMID:30573328 PMID:30673959 PMID:30868116 PMID:30945278 PMID:31138832 PMID:31535341 PMID:31816669 PMID:31958484 PMID:32214227 PMID:32393352 PMID:32472557 PMID:32477112 PMID:32581362 PMID:32860008 PMID:34324427 PMID:34837432 PMID:35606502 PMID:36430969 PMID:38177409 More...
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Sil1
SIL1 nucleotide exchange factor
ISO
ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome
ClinVar
PMID:19471582 PMID:22995991 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31258504 PMID:33250842 More...
NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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Thoc2
THO complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome
OMIM CTD ClinVar
PMID:1605217 PMID:8825049 PMID:25741868 PMID:26166480 PMID:28492532
NCBI chr X:120,634,966...120,749,569
Ensembl chr X:120,634,968...120,749,513
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Rbmx
RNA binding motif protein, X-linked
ISO
ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741905
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
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Ophn1
oligophrenin 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 60 | ClinVar Annotator: match by term: OPHN1-related condition CTD Direct Evidence: marker/mechanism DNA:deletion:exon:p.T214fs34* (human) DNA:deletion:exon, intron DNA:duplication:exon: c.1385insAAGAATTC (human) DNA:deletion:exon 7:r.487_597del (c.781_891del) (human)
OMIM ClinVar CTD RGD
PMID:9582072 PMID:10818214 PMID:12807966 PMID:16199547 PMID:16221952 PMID:18414213 PMID:20528889 PMID:23552953 PMID:25741868 PMID:26467025 PMID:26542245 PMID:28492532 PMID:32238909 PMID:33638601 PMID:34906502 PMID:16158428 PMID:18261018 PMID:12807966 PMID:20528889 PMID:24105372 More...
RGD:13207450 , RGD:13207446 , RGD:13207445 , RGD:13207444 , RGD:13207443
NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 CTD Direct Evidence: marker/mechanism DNA:mutation:exon:c. 6740A>C (p.H224P)(human) DNA:nonsense mutation:exon:324C>T (p.R37X) (human) DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)
OMIM ClinVar CTD RGD
PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 PMID:8968741 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10995512 PMID:11050622 PMID:12116232 PMID:15508018 PMID:15591283 PMID:16125058 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21267006 PMID:23681356 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25936994 PMID:26350204 PMID:26467025 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492532 PMID:29706636 PMID:31130284 PMID:32595695 PMID:32712949 PMID:35709690 PMID:36292677 PMID:26997013 PMID:10632111 PMID:8630485 More...
RGD:13442490 , RGD:11040909 , RGD:1599406
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Epor
erythropoietin receptor
ISO
ClinVar Annotator: match by term: Carpenter-Waziri syndrome
ClinVar
PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Huwe1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Carpenter-Waziri syndrome
ClinVar
PMID:25741868
NCBI chr X:20,873,795...21,001,378
Ensembl chr X:20,873,795...21,001,262
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all