RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | syndromic intellectual disability |
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Accession: | DOID:0050888
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browse the term
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:32220291 |
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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 |
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ISS |
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MouseDO |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:35887114 |
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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 |
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ISS |
OMIM:300486 | OMIM:300860 | OMIM:309583 |
MouseDO |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:28397838 PMID:35118659 |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:33743206 |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:27900362 PMID:28492532 PMID:28708303 PMID:29209020 |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Kat6a |
lysine acetyltransferase 6A |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25728777 |
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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 |
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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...
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Kmt2c |
lysine methyltransferase 2C |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 PMID:37091313 |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Mapt |
microtubule-associated protein tau |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:36067766 |
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NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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Naa15 |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr 2:135,458,018...135,520,756
Ensembl chr 2:135,457,948...135,520,756
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Nsd2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Ophn1 |
oligophrenin 1 |
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ISS |
OMIM:300486 | OMIM:300860 | OMIM:309583 |
MouseDO |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:27900362 PMID:28492532 PMID:28708303 PMID:29209020 |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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NCBI chr 9:66,706,050...66,810,601
Ensembl chr 9:66,706,050...66,810,036
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Rai1 |
retinoic acid induced 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 |
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NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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Syt1 |
synaptotagmin 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:25741868 PMID:30107533 |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 |
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NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Wdfy3 |
WD repeat and FYVE domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482
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Zfp526 |
zinc finger protein 526 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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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 |
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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 |
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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 |
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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 |
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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...
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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 |
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ISO |
ClinVar Annotator: match by term: Basilicata-Akhtar syndrome |
OMIM ClinVar |
PMID:25741868 PMID:30224647 PMID:33173220 |
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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 |
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ISO ISS |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders OMIM:301900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15580208 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:30403997 PMID:30630810 PMID:33772537 PMID:34041787 PMID:35662002 PMID:36999477 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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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 |
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ISO ISS |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM:615722 |
OMIM ClinVar MouseDO |
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 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...
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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 |
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ISO |
ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome |
ClinVar |
PMID:24462372 |
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NCBI chr 2:7,907,504...7,908,738
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Adgrg4 |
adhesion G protein-coupled receptor G4 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 PMID:18414213 PMID:19241098 PMID:19564592 PMID:19740913 PMID:20397747 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21775177 PMID:22678952 PMID:22867051 PMID:22872100 PMID:23064044 PMID:23238081 PMID:23583054 PMID:23934111 PMID:25657822 PMID:25741868 PMID:26467025 PMID:27770071 PMID:28492532 PMID:29264392 PMID:31313283 PMID:31492455 PMID:31780880 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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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...
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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 |
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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:25640679 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...
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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 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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NCBI chr X:134,979,657...134,996,007
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Zic3 |
Zic family member 3 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 PMID:24123890 PMID:28492532 More...
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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 |
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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 |
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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 |
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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...
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition |
OMIM ClinVar |
PMID:25741868 PMID:26833328 PMID:28492532 PMID:31443933 PMID:34008892 PMID:35904974 More...
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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 |
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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 |
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NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507
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Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2 |
OMIM ClinVar |
PMID:25741868 PMID:26358559 PMID:30544257 PMID:31587868 |
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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 |
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ISO |
ClinVar Annotator: match by term: FOXP1-related condition | ClinVar Annotator: match by term: Intellectual Disability with Language Impairment and Autistic Features | ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome | ClinVar Annotator: match by term: Mental retardation with language impairment and autistic features |
OMIM ClinVar |
PMID:9536098 PMID:17405132 PMID:17576681 PMID:19352412 PMID:20848658 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:33461977 PMID:34109629 PMID:34580403 PMID:34588003 PMID:35991577 More...
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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 |
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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:28003368 PMID:28492532 PMID:30792901 PMID:36474027 PMID:38177409 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501
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Lyplal1 |
lysophospholipase-like 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:96,362,810...96,397,284
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:29300443 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 PMID:24033266 PMID:24891604 PMID:25533962 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29300443 PMID:29419336 PMID:32740904 PMID:32870266 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome |
ClinVar |
PMID:23420520 PMID:28492532 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Arhgap35 |
Rho GTPase activating protein 35 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799
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G |
Rab3gap2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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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...
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NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478
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Sema3a |
semaphorin 3A |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:22927827 PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Wfdc17 |
WAP four-disulfide core domain 17 |
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ISO |
ClinVar Annotator: match by term: Martsolf syndrome 1 |
ClinVar |
PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 |
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NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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Rab3gap1 |
RAB3 GTPase activating protein catalytic subunit 1 |
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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...
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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 |
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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 |
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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 |
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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 PMID:30878599 More...
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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 |
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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:23623388 PMID:25644381 PMID:25741868 PMID:26056227 PMID:28492532 PMID:28814648 PMID:31206972 PMID:32860008 PMID:36250278 More...
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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 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:121,373,693...121,401,923
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Stag2 |
STAG2 cohesin complex component |
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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 PMID:35904974 More...
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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 |
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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 |
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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 |
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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...
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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 |
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ISO |
ClinVar Annotator: match by term: Paganini-Miozzo syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30471091 |
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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 |
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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...
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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 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
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G |
Foxn2 |
forkhead box N2 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:6,018,653...6,065,226
Ensembl chr 6:6,018,879...6,064,278
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G |
Fshr |
follicle stimulating hormone receptor |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:22617343 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:5,752,814...5,834,797
Ensembl chr 6:5,752,823...5,836,472
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G |
Kcnk12 |
potassium two pore domain channel subfamily K member 12 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:6,740,147...6,790,664
Ensembl chr 6:6,739,991...6,790,661
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G |
Lhcgr |
luteinizing hormone/choriogonadotropin receptor |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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G |
Msh2 |
mutS homolog 2 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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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 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar OMIM |
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...
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NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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G |
Ppp1r21 |
protein phosphatase 1, regulatory subunit 21 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:5,901,518...5,970,684
Ensembl chr 6:5,901,518...5,970,684
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G |
Ston1 |
stonin 1 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:5,843,186...5,892,557
Ensembl chr 6:5,843,185...5,892,449
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G |
Wnk3 |
WNK lysine deficient protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Prieto syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3121220 PMID:25741868 PMID:26350204 PMID:35678782 |
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NCBI chr X:20,156,260...20,299,252
Ensembl chr X:20,157,041...20,296,821
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G |
Clcn4 |
chloride voltage-gated channel 4 |
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ISO |
ClinVar Annotator: match by term: CLCN4-related X-linked intellectual disability syndrome | ClinVar Annotator: match by term: CLCN4-related disorder | ClinVar Annotator: match by term: MRX49 | ClinVar Annotator: match by term: RAYNAUD-CLAES SYNDROME |
OMIM ClinVar |
PMID:8826458 PMID:9415477 PMID:9536098 PMID:17576681 PMID:19377476 PMID:23647072 PMID:25644381 PMID:25741868 PMID:25741869 PMID:26633542 PMID:27550844 PMID:28492532 PMID:28518168 PMID:29314583 PMID:30919572 PMID:31452935 PMID:31690835 PMID:31780880 PMID:31785789 PMID:32461654 PMID:33504798 PMID:33880059 PMID:36385166 More...
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NCBI chr X:23,729,194...23,795,391
Ensembl chr X:23,729,338...23,793,238
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO ISS |
ClinVar Annotator: match by term: Renpenning syndrome OMIM:309500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 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 PMID:36474027 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Renpenning syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32903913 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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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...
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked intellectual disability, Stocco dos Santos type |
ClinVar |
PMID:25670966 |
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NCBI chr X:15,123,620...15,126,855
Ensembl chr X:15,124,596...15,125,912
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Zfx |
zinc finger protein X-linked |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, x-linked, syndromic 37 |
OMIM ClinVar |
PMID:38325380 |
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NCBI chr X:58,804,690...58,853,155
Ensembl chr X:58,804,691...58,853,265
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Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE |
ClinVar |
PMID:25741868 |
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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 |
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ISO ISS |
OMIM:300986 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE |
OMIM MouseDO ClinVar |
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:28492532 PMID:29938792 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 PMID:33504798 PMID:33728377 PMID:34008892 PMID:34907471 More...
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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 |
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ISS |
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MouseDO |
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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 |
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ISO |
ClinVar Annotator: match by term: X-linked syndromic intellectual disability |
ClinVar |
PMID:22452838 PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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Dock11 |
dedicator of cytokinesis 11 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854
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Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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
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Kiaa1210 |
KIAA1210 homolog |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925
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Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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Lonrf3 |
LON peptidase N-terminal domain and ring finger 3 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809
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Mcts1 |
MCTS1, re-initiation and release factor |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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Pgrmc1 |
progesterone receptor membrane component 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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Rhox13 |
Rhox homeobox family member 13 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
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Rhoxf2b |
Rhox homeobox family member 2B |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
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Rnf113a1 |
ring finger protein 113A1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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Rpl39 |
ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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
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Septin6 |
septin 6 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
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Slc25a43 |
solute carrier family 25, member 43 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205
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Slc25a5 |
solute carrier family 25 member 5 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967
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Sowahd |
sosondowah ankyrin repeat domain family member D |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
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Steep1 |
STING1 ER exit protein 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
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Tmem255a |
transmembrane protein 255A |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
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Ube2a |
ubiquitin-conjugating enzyme E2A |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17236139 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 PMID:22957832 PMID:25385192 PMID:25741868 PMID:26012578 PMID:26350204 PMID:28492532 PMID:28708303 PMID:31737052 More...
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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Zbtb33 |
zinc finger and BTB domain containing 33 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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Zcchc12 |
zinc finger CCHC-type containing 12 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33 | ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic 33 | ClinVar Annotator: match by term: TAF1-related syndromic intellectual disability |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26637982 PMID:28492532 PMID:29302074 PMID:31646703 PMID:31985533 PMID:32396742 PMID:33098347 More...
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NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 34 |
OMIM ClinVar |
PMID:25741868 PMID:26571461 PMID:26822237 PMID:27329731 PMID:27550220 PMID:28492532 PMID:31883306 PMID:32238909 More...
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NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Rpl10 |
ribosomal protein L10 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Intellectual disability, X-linked, syndromic, 35 |
ClinVar OMIM |
PMID:7626060 PMID:18258260 PMID:25316788 PMID:25741868 PMID:25846674 PMID:26290468 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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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...
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NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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G |
Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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ISO |
ClinVar Annotator: match by term: GRIA3-related disorder | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17989220 PMID:19022251 PMID:20716669 PMID:24721225 PMID:25326635 PMID:25741868 PMID:25985138 PMID:26467025 PMID:28492532 PMID:28708303 PMID:29016847 PMID:29758562 PMID:31780880 PMID:32977175 PMID:35031858 PMID:37921875 More...
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NCBI chr X:120,238,515...120,504,106
Ensembl chr X:120,238,534...120,504,096
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G |
Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
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G |
Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
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G |
C1galt1c1 |
C1GALT1-specific chaperone 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,378,123...117,382,620
Ensembl chr X:117,375,525...117,382,787
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G |
Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: CABEZAS SYNDROME | ClinVar Annotator: match by term: CUL4B-related disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 | ClinVar Annotator: match by term: Mental retardation with short stature, hypogonadism and abnormal gait, X-linked |
OMIM ClinVar |
PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 PMID:17576681 PMID:17704778 PMID:18414213 PMID:19238151 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28330790 PMID:28492532 PMID:28817236 More...
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NCBI chr X:117,287,481...117,326,688
Ensembl chr X:117,287,484...117,326,688
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G |
Dock11 |
dedicator of cytokinesis 11 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,131,720...115,314,854
Ensembl chr X:115,131,909...115,314,854
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G |
Il13ra1 |
interleukin 13 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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
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G |
Kiaa1210 |
KIAA1210 homolog |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,675,412...115,725,950
Ensembl chr X:115,675,427...115,725,925
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G |
Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
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G |
Lonrf3 |
LON peptidase N-terminal domain and ring finger 3 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,565,214...115,603,886
Ensembl chr X:115,565,267...115,598,809
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G |
Mcts1 |
MCTS1, re-initiation and release factor |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:117,350,723...117,362,504
Ensembl chr X:117,350,889...117,362,504
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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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G |
Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
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G |
Nkrf |
NFKB repressing factor |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
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G |
Pgrmc1 |
progesterone receptor membrane component 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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G |
Rhox13 |
Rhox homeobox family member 13 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,911,226...116,917,758
Ensembl chr X:116,911,329...116,917,644
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G |
Rhoxf2b |
Rhox homeobox family member 2B |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
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G |
Rnf113a1 |
ring finger protein 113A1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,427,941...116,429,164
Ensembl chr X:116,427,684...116,433,762
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G |
Rpl39 |
ribosomal protein L39 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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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
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G |
Septin6 |
septin 6 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,153,255...116,230,334
Ensembl chr X:116,153,255...116,230,115
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G |
Slc25a43 |
solute carrier family 25, member 43 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,977,437...116,011,789
Ensembl chr X:115,977,510...116,011,205
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G |
Slc25a5 |
solute carrier family 25 member 5 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,031,896...116,034,963
Ensembl chr X:116,031,803...116,034,967
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G |
Sowahd |
sosondowah ankyrin repeat domain family member D |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,292,030...116,293,660
Ensembl chr X:116,292,030...116,293,660
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G |
Steep1 |
STING1 ER exit protein 1 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,087,626...116,114,159
Ensembl chr X:116,060,929...116,114,159
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G |
Tmem255a |
transmembrane protein 255A |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
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G |
Ube2a |
ubiquitin-conjugating enzyme E2A |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,114,339...116,125,076
Ensembl chr X:116,113,875...116,125,070
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
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G |
Zbtb33 |
zinc finger and BTB domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
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G |
Zcchc12 |
zinc finger CCHC-type containing 12 |
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ISO |
ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type |
ClinVar |
PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 |
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NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type |
ClinVar |
PMID:2563148 PMID:25741868 PMID:26235985 |
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NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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G |
Kdm5c |
lysine demethylase 5C |
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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:36553533 PMID:36672956 PMID:38177409 PMID:22326837 More...
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RGD:9587779 |
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Arx |
aristaless related homeobox |
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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
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G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
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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...
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NCBI chr X:10,183,983...10,210,948
Ensembl chr X:10,183,068...10,210,918
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G |
Bcor |
BCL6 co-repressor |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:8,899,500...9,243,014
Ensembl chr X:8,899,833...9,238,694
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G |
Cxhxorf38 |
similar to human chromosome X open reading frame 38 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:10,128,070...10,150,904
Ensembl chr X:10,129,657...10,150,900
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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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
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G |
Gpr34 |
G protein-coupled receptor 34 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:9,104,829...9,113,796
Ensembl chr X:9,104,565...9,148,601
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G |
Gpr82 |
G protein-coupled receptor 82 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:9,079,016...9,084,696
Ensembl chr X:9,080,254...9,081,240
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G |
Med14 |
mediator complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:10,036,749...10,127,910
Ensembl chr X:10,036,805...10,126,240
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G |
Mpc1l |
mitochondrial pyruvate carrier 1-like |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:10,146,274...10,147,145
Ensembl chr X:10,146,293...10,147,145
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G |
Nyx |
nyctalopin |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type |
ClinVar |
PMID:23901204 PMID:26235985 PMID:28492532 |
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NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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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
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
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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
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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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...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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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
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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
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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
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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
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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
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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
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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...
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|
NCBI chr X:147,928,130...148,432,484
Ensembl chr X:147,928,407...148,429,995
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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
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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
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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
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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
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|
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
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|
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
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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
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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
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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
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, Lubs type | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
CTD OMIM ClinVar |
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2323808 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:20142466 PMID:20151026 PMID:20207612 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:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24328834 PMID:24399845 PMID:24508304 PMID:24511209 PMID:24621584 PMID:24626160 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25326635 PMID:25473036 PMID:25533962 PMID:25541993 PMID:25634563 PMID:25741868 PMID:26175308 PMID:26228846 PMID:26254891 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:27799067 PMID:27929079 PMID:28089766 PMID:28257338 PMID:28351539 PMID:28394482 PMID:28465761 PMID:28492532 PMID:28544139 PMID:28785396 PMID:28831199 PMID:29046627 PMID:29141583 PMID:29655203 PMID:29720203 PMID:29758562 PMID:30081849 PMID:30405208 PMID:30536762 PMID:30788845 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:34619114 PMID:34837432 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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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
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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
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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
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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
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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...
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NCBI chr X:150,438,529...150,438,601
Ensembl chr X:150,438,529...150,438,601
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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
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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
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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
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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
|
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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
|
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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...
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NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
|
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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
|
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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...
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|
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
|
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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
|
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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
|
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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
|
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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
|
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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
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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
|
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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
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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
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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
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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...
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|
NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
|
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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...
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NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541
|
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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...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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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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G |
Nap1l2 |
nucleosome assembly protein 1-like 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:68,174,051...68,176,449
Ensembl chr X:68,173,987...68,176,666
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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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G |
Ndp |
norrin cystine knot growth factor NDP |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
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G |
Ndufb11 |
NADH:ubiquinone oxidoreductase subunit B11 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:1,572,805...1,575,063
Ensembl chr X:1,572,785...1,575,062
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G |
Nexmif |
neurite extension and migration factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:69,088,076...69,219,253
Ensembl chr X:69,088,076...69,112,930
|
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G |
Nhs |
NHS actin remodeling regulator |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:32,553,300...32,892,961
Ensembl chr X:32,552,026...32,889,992
|
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G |
Nhsl2 |
NHS-like 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,969,953...67,209,464
Ensembl chr X:66,970,151...67,200,911
|
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G |
Nkap |
NFKB activating protein |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
|
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G |
Nkrf |
NFKB repressing factor |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:116,126,341...116,144,554
Ensembl chr X:116,128,798...116,144,628
|
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G |
Nlgn3 |
neuroligin 3 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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G |
Nono |
non-POU domain containing, octamer-binding |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Nox1 |
NADPH oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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G |
Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
|
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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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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845 More...
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|
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
|
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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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G |
Nup62cl |
nucleoporin 62 C-terminal like |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
|
NCBI chr X:103,668,458...103,724,957
Ensembl chr X:103,668,455...103,724,081
|
|
G |
Nxf2 |
nuclear RNA export factor 2 |
|
ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:98,135,953...98,157,117
Ensembl chr X:98,135,950...98,157,089
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G |
Nxf3 |
nuclear RNA export factor 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:99,025,901...99,050,409
Ensembl chr X:99,025,901...99,039,261
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G |
Nxf7 |
nuclear RNA export factor 7 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:98,535,374...98,552,562
Ensembl chr X:98,535,375...98,552,526
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G |
Nxt2 |
nuclear transport factor 2-like export factor 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:105,855,616...105,862,902
Ensembl chr X:105,855,608...105,862,899
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G |
Nyx |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
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G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
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G |
Ogt |
O-linked N-acetylglucosamine (GlcNAc) transferase |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,771,278...66,816,148
Ensembl chr X:66,771,349...66,816,146
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G |
Ophn1 |
oligophrenin 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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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...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Otc |
ornithine transcarbamylase |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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G |
Otud5 |
OTU deubiquitinase 5 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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G |
Otud6a |
OTU deubiquitinase 6A |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:65,514,113...65,516,287
Ensembl chr X:65,514,191...65,515,063
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G |
P2ry10 |
P2Y receptor family member 10 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:72,121,558...72,207,174
Ensembl chr X:72,111,264...72,212,265
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G |
P2ry4 |
pyrimidinergic receptor P2Y4 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:65,681,680...65,717,404
Ensembl chr X:65,683,232...65,721,748
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G |
Pabir2 |
PABIR family member 2 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:132,989,124...133,015,625
Ensembl chr X:132,989,124...133,015,580
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G |
Pabir3 |
PABIR family member 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:133,020,162...133,083,801
Ensembl chr X:133,020,190...133,083,805
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G |
Pabpc1l2a |
poly(A) binding protein, cytoplasmic 1-like 2A |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:68,023,845...68,026,508
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G |
Pabpc1l2b |
poly(A) binding protein cytoplasmic 1 like 2B |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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G |
Pabpc5 |
poly A binding protein, cytoplasmic 5 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:85,637,763...85,641,235
Ensembl chr X:85,638,574...85,639,722
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G |
Pak3 |
p21 (RAC1) activated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:107,116,308...107,374,342
Ensembl chr X:107,260,898...107,368,314
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G |
Pasd1 |
PAS domain containing repressor 1 |
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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...
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NCBI chr X:149,617,933...149,639,214
Ensembl chr X:149,620,972...149,638,675
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G |
Pbdc1 |
polysaccharide biosynthesis domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:70,154,106...70,197,827
Ensembl chr X:70,154,106...70,184,552
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G |
Pcdh11x |
protocadherin 11 X-linked |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:86,058,348...86,751,078
Ensembl chr X:86,058,394...86,747,036
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G |
Pcdh19 |
protocadherin 19 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:58,486,699...58,553,533
Ensembl chr X:58,486,554...58,553,557
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G |
Pdzd11 |
PDZ domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:65,718,689...65,721,742
Ensembl chr X:65,704,067...65,721,642
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G |
Pdzd4 |
PDZ domain containing 4 |
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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...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Pfkfb1 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:19,508,522...19,562,165
Ensembl chr X:19,508,546...19,562,182
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G |
Pgk1 |
phosphoglycerate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
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G |
Pgrmc1 |
progesterone receptor membrane component 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:115,832,865...115,841,060
Ensembl chr X:115,832,884...115,888,682
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G |
Phex |
phosphate regulating endopeptidase X-linked |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Phf8 |
PHD finger protein 8 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
ClinVar |
PMID:25741868 |
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NCBI chr X:20,524,103...20,623,459
Ensembl chr X:20,524,558...20,623,410
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G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type |
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