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) |
Synonyms: | primary_id: | RDO:9003344 |
For additional species annotation, visit the
Alliance of Genome Resources.
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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 chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
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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 4:145,264,445...145,280,943
Ensembl chr 4:145,264,462...145,280,857
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Fam160b1 |
family with sequence similarity 160, member B1 |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
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NCBI chr 1:278,198,181...278,224,365
Ensembl chr 1:278,198,179...278,221,686
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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:28708303 |
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NCBI chr 8:90,343,307...90,360,085
Ensembl chr 8:90,343,154...90,360,086
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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:26467025 |
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NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
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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 chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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Mapt |
microtubule-associated protein tau |
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ISO |
ClinVar Annotator: match by term: Syndromic intellectual disability |
ClinVar |
PMID:26467025 |
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NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
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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:68,185,865...68,579,518
Ensembl chr X:68,189,161...68,563,137
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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:28708303 |
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NCBI chr 8:90,387,339...90,483,964
Ensembl chr 8:90,392,143...90,483,077
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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 9:72,052,966...72,158,343
Ensembl chr 9:72,052,966...72,157,773
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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 7:50,084,063...50,638,996
Ensembl chr 7:50,084,060...50,638,798
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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:30311386 |
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NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
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Abcd1 |
ATP binding cassette subfamily D member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE ClinVar Annotator: match by term: Adrenomyeloneuropathy CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:300100 ClinVar Annotator: match by null |
ClinVar CTD OMIM |
PMID:1481812 PMID:6728562 PMID:6795626 PMID:7202134 PMID:7561948 PMID:7581394 PMID:7668254 PMID:7677014 PMID:7717396 PMID:7811247 PMID:7825602 PMID:7849718 PMID:7849723 PMID:7860075 PMID:7894167 PMID:7904210 PMID:7998779 PMID:8040304 PMID:8048932 PMID:8353949 PMID:8441467 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9425230 PMID:9452087 PMID:9553942 PMID:9556301 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11102997 PMID:11220738 PMID:11248239 PMID:11310629 PMID:11330045 PMID:11336405 PMID:11438993 PMID:11739809 PMID:11748843 PMID:11798073 PMID:11810273 PMID:12175782 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15192815 PMID:15284851 PMID:15333254 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17285533 PMID:17498713 PMID:17504626 PMID:17542813 PMID:17602313 PMID:17990484 PMID:18206987 PMID:18306728 PMID:18973459 PMID:19129531 PMID:19496984 PMID:19660195 PMID:19963315 PMID:20008255 PMID:20195870 PMID:20301491 PMID:20455653 PMID:20626745 PMID:20661612 PMID:20800589 PMID:20849526 PMID:20859061 PMID:21068741 PMID:21300044 PMID:21476988 PMID:21478203 PMID:21488864 PMID:21586746 PMID:21700483 PMID:21889498 PMID:21907609 PMID:21966424 PMID:22057157 PMID:22176151 PMID:22198747 PMID:22280810 PMID:22366764 PMID:22479560 PMID:22483867 PMID:22914231 PMID:23009600 PMID:23154058 PMID:23300730 PMID:23419472 PMID:23430809 PMID:23469258 PMID:23566833 PMID:23566848 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23926373 PMID:24154795 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24788897 PMID:25275259 PMID:25324868 PMID:25741868 PMID:26227820 PMID:26260157 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26523528 PMID:26609365 PMID:27067449 PMID:27084228 PMID:27766264 PMID:27779215 PMID:28456143 PMID:28492532 PMID:28503596 PMID:28953922 PMID:29056270 PMID:29284317 PMID:29443243 PMID:30311386 PMID:30544401 PMID:30564185 PMID:30902905 PMID:31074578 PMID:32207279, PMID:8048932 |
RGD:1598655 |
NCBI chr X:157,073,860...157,095,652
Ensembl chr X:157,072,736...157,095,274
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Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
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ISO |
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RGD |
PMID:15800013 |
RGD:11065111 |
NCBI chr 8:59,184,111...59,240,133
Ensembl chr 8:59,184,113...59,239,954
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Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,873,094...156,888,762
Ensembl chr X:156,873,849...156,888,761
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Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,407,973...156,415,053
Ensembl chr X:156,407,937...156,415,145
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Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,889,006...156,892,707
Ensembl chr X:156,889,410...156,891,213
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Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:157,094,365...157,126,397
Ensembl chr X:157,095,937...157,126,393
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Ctag2 |
cancer/testis antigen 2 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:148,421,627...148,422,921
Ensembl chr X:148,421,627...148,422,921
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Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:155,844,914...155,862,363
Ensembl chr X:155,844,857...155,862,475
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Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,429,521...156,438,066
Ensembl chr X:156,429,585...156,438,066
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Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,452,847...156,455,858
Ensembl chr X:156,452,818...156,456,035
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F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr18:367,862...399,242
Ensembl chr18:367,862...399,242
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Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,319,687...156,328,974
Ensembl chr X:156,319,687...156,328,309
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Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,392,646...156,399,763
Ensembl chr X:156,392,630...156,399,760
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,812,012...156,837,227
Ensembl chr X:156,812,064...156,837,227
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Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,999,803...157,008,735
Ensembl chr X:156,999,826...157,008,733
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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
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L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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Mmp10 |
matrix metallopeptidase 10 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 8:5,734,348...5,742,243
Ensembl chr 8:5,734,348...5,742,243
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Mmp2 |
matrix metallopeptidase 2 |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mpp1 |
membrane palmitoylated protein 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:148,450,213...148,458,945
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Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,863,655...156,868,950
Ensembl chr X:156,863,754...156,868,950
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Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,569,683...156,589,907
Ensembl chr X:156,569,683...156,589,907
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Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,963,343...156,993,591
Ensembl chr X:156,963,870...156,993,591
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Pex13 |
peroxisomal biogenesis factor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10441568 |
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NCBI chr14:108,394,299...108,411,994
Ensembl chr14:108,394,303...108,412,823
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Pex26 |
peroxisomal biogenesis factor 26 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12851857 |
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NCBI chr 4:153,747,715...153,760,446
Ensembl chr 4:153,747,947...153,760,442
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Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,363,400...156,379,433
Ensembl chr X:156,363,405...156,379,189
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Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:157,015,297...157,030,147
Ensembl chr X:157,015,305...157,028,434
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Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,854,490...156,863,548
Ensembl chr X:156,854,594...156,863,528
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Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,438,251...156,440,461
Ensembl chr X:156,438,251...156,440,461
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Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,335,385...156,340,256
Ensembl chr X:156,336,450...156,340,234
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Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
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NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:157,008,773...157,014,342
Ensembl chr X:157,008,824...157,013,443
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Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,995,763...156,999,702
Ensembl chr X:156,995,779...156,999,650
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Taz |
tafazzin |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,421,006...156,429,461
Ensembl chr X:156,421,009...156,428,593
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Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,540,442...156,569,272
Ensembl chr X:156,552,528...156,569,249
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,507,797...156,540,733
Ensembl chr X:156,507,797...156,540,733
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Ubl4a |
ubiquitin-like 4A |
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ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr X:156,340,919...156,343,771
Ensembl chr X:156,340,925...156,343,777
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Slc16a2 |
solute carrier family 16 member 2 |
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ISO |
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency ClinVar Annotator: match by OMIM:300523 |
OMIM ClinVar |
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15889350 PMID:15980113 PMID:18187543 PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25527620 PMID:25741868 PMID:27212794 PMID:28492532 |
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NCBI chr X:74,578,600...74,706,068
Ensembl chr X:74,577,131...74,706,214
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Atr |
ATR serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: ATR-X-related syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar Annotator: match by term: XLMR hypotonic face syndrome ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome ClinVar Annotator: match by term: ATR-X syndrome ClinVar Annotator: match by OMIM:301040 ClinVar Annotator: match by null DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human) DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human) DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human) |
OMIM ClinVar |
PMID:3239563 PMID:3658675 PMID:6682021 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9598720 PMID:10204841 PMID:10417298 PMID:10632111 PMID:10995512 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16763962 PMID:16813605 PMID:16955409 PMID:17579672 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21505078 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24327140 PMID:24728327 PMID:24759409 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284, PMID:24289169, PMID:24327140, PMID:24805811 |
RGD:9586030, RGD:9586029, RGD:9586027 |
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: Armfield X-linked mental retardation syndrome |
OMIM ClinVar |
PMID:10398235 PMID:25741868 PMID:32703943 |
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NCBI chr X:156,392,646...156,399,763
Ensembl chr X:156,392,630...156,399,760
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G |
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 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Arts syndrome ClinVar Annotator: match by OMIM:301835 |
OMIM ClinVar |
PMID:8498830 PMID:17701896 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:28492532 |
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NCBI chr X:111,798,233...111,820,270
Ensembl chr X:111,798,233...111,820,266
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type |
ClinVar |
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9628581 PMID:15197169 PMID:15669143 PMID:18414213 PMID:20473311 PMID:23020937 PMID:23674175 PMID:23934111 PMID:24306141 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26733290 PMID:26793055 PMID:26795593 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 |
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NCBI chr X:22,212,137...22,293,810
Ensembl chr X:22,212,132...22,294,402
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G |
Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type |
ClinVar |
PMID:20400964 PMID:21990120 PMID:22006311 PMID:22538716 PMID:24139550 PMID:24315737 PMID:24549055 PMID:24800917 PMID:25452441 PMID:25741868 PMID:26261251 PMID:26681312 PMID:28123851 PMID:28152038 PMID:28492532 PMID:28905878 PMID:29053726 PMID:29255180 |
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NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
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Nus1 |
NUS1 dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES |
ClinVar OMIM |
PMID:25066056 PMID:25741868 PMID:28492532 PMID:29100083 |
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NCBI chr20:33,557,052...33,584,011
Ensembl chr20:33,557,052...33,584,010
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Cltc |
clathrin heavy chain |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
ClinVar OMIM |
PMID:25741868 PMID:28135719 PMID:29100083 |
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NCBI chr10:74,014,560...74,070,578
Ensembl chr10:74,014,562...74,070,266
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Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
ClinVar |
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:22243262 PMID:23355523 PMID:23625376 PMID:25741868 PMID:26124219 |
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NCBI chr 8:5,823,147...5,875,555
Ensembl chr 8:5,833,359...5,875,232
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Ptrh2 |
peptidyl-tRNA hydrolase 2 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
ClinVar |
PMID:25741868 |
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NCBI chr10:74,002,151...74,012,182
Ensembl chr10:74,002,151...74,012,159
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G |
Mettl5 |
methyltransferase like 5 |
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ISO |
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72 |
ClinVar OMIM |
PMID:25741868 PMID:31564433 |
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NCBI chr 3:56,101,597...56,113,823
Ensembl chr 3:56,101,580...56,113,857
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G |
Msl3 |
MSL complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: BASILICATA-AKHTAR SYNDROME ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 36 |
OMIM ClinVar |
PMID:25741868 PMID:30224647 |
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NCBI chr X:27,015,826...27,033,562
Ensembl chr X:27,015,884...27,033,555
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome ClinVar Annotator: match by OMIM:301900 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24728327 PMID:25741868 PMID:25741869 PMID:27633282 PMID:28492532 |
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NCBI chr X:158,698,353...158,739,855
Ensembl chr X:158,698,356...158,739,838 Ensembl chr X:158,698,356...158,739,838
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: Cowchock syndrome ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA |
OMIM ClinVar |
PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 |
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NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
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G |
Rab33a |
RAB33A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar Annotator: match by term: Cowchock syndrome ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA |
ClinVar |
PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 |
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NCBI chr X:135,348,799...135,360,204
Ensembl chr X:135,348,436...135,360,203
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G |
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:16813600 PMID:18414213 PMID:19241098 PMID:19564592 PMID:20397747 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:23064044 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 |
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NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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G |
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 1:8,129,354...8,333,890
Ensembl chr 1:8,310,577...8,333,885
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G |
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 |
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NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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G |
Slc9a6 |
solute carrier family 9 member A6 |
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ISO |
ClinVar Annotator: match by term: Christianson syndrome ClinVar Annotator: match by term: X-linked mental retardation, syndromic, Christianson type ClinVar Annotator: match by OMIM:300243 |
OMIM ClinVar |
PMID:10528855 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:30311386 PMID:32581362 PMID:32860008 |
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NCBI chr X:158,979,081...159,045,019
Ensembl chr X:158,978,755...159,045,044
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
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ISO |
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OMIM |
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NCBI chr X:21,696,796...21,699,241
Ensembl chr X:21,696,772...21,699,241
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G |
Rp2 |
RP2 activator of ARL3 GTPase |
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ISO |
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OMIM |
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NCBI chr X:2,066,298...2,116,661
Ensembl chr X:2,064,486...2,116,656
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by OMIM:300831 |
OMIM ClinVar |
PMID:19377476 PMID:21129721 |
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NCBI chr X:152,933,118...152,964,399
Ensembl chr X:152,933,069...152,964,390
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G |
Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly, X-linked DNA:missense mutation:exon:p.A71S (211G>T) (human) DNA:missense mutations: :multiple DNA:missense mutation:exon:p.D262G (c.785A>G) (human) ClinVar Annotator: match by OMIM:300067 |
OMIM ClinVar |
PMID:9489699 PMID:9489700 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 PMID:29706646 PMID:32238909, PMID:11071144, PMID:12838518, PMID:27292316 |
RGD:12904735, RGD:12904728, RGD:11568595 |
NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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Mnt |
MAX network transcriptional repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
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NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
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G |
Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar Annotator: match by term: Type 1 lissencephaly ClinVar Annotator: match by term: Lissencephaly classic |
ClinVar |
PMID:9063735 PMID:9147889 PMID:10441340 PMID:10583396 PMID:11115846 PMID:11502906 PMID:12885786 PMID:14581661 PMID:15007136 PMID:17664403 PMID:18414213 PMID:19667223 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26633545 PMID:27891766 PMID:32238909 |
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NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Coffin-Lowry syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:303600 ClinVar Annotator: match by null |
OMIM ClinVar CTD |
PMID:5581017 PMID:8955270 PMID:9837815 PMID:9887375 PMID:10094187 PMID:10528858 PMID:11180593 PMID:11992250 PMID:12439904 PMID:12558110 PMID:14986828 PMID:15214012 PMID:16306095 PMID:16879200 PMID:17717706 PMID:19377476 PMID:19888300 PMID:21488662 PMID:25044551 PMID:25741868 PMID:28492532 PMID:31319225 |
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NCBI chr X:37,469,736...37,576,055
Ensembl chr X:37,469,937...37,575,624
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G |
Igbp1 |
immunoglobulin binding protein 1 |
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ISO |
ClinVar Annotator: match by OMIM:300472 |
OMIM ClinVar |
PMID:14556245 |
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NCBI chr X:70,322,764...70,345,005
Ensembl chr X:70,322,755...70,345,005
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:157,073,860...157,095,652
Ensembl chr X:157,072,736...157,095,274
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:157,094,365...157,126,397
Ensembl chr X:157,095,937...157,126,393
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:156,999,803...157,008,735
Ensembl chr X:156,999,826...157,008,733
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:156,963,343...156,993,591
Ensembl chr X:156,963,870...156,993,591
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:157,015,297...157,030,147
Ensembl chr X:157,015,305...157,028,434
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency ClinVar Annotator: match by term: Creatine deficiency, X-linked CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:300352 |
OMIM ClinVar CTD |
PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:12544242 PMID:15154114 PMID:16086185 PMID:16738945 PMID:17101918 PMID:17465020 PMID:18047645 PMID:18414213 PMID:19188083 PMID:20717164 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22659343 PMID:23408511 PMID:23660394 PMID:25326635 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:28492532 PMID:29429461 PMID:31222513 PMID:32860008 |
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NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:157,008,773...157,014,342
Ensembl chr X:157,008,824...157,013,443
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
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NCBI chr X:156,995,763...156,999,702
Ensembl chr X:156,995,779...156,999,650
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G |
Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:123,773,430...123,788,898
Ensembl chr X:123,773,430...123,788,898
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G |
Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:124,631,544...124,652,520
Ensembl chr X:124,631,881...124,652,975
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G |
Lamp2 |
lysosomal-associated membrane protein 2 |
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ISO IMP |
ClinVar Annotator: match by term: Danon disease ClinVar Annotator: match by term: Glycogen storage cardiomyopathy ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb in hemizygote mutant male (LAMP2y/-) ClinVar Annotator: match by OMIM:300257 |
OMIM ClinVar |
PMID:3087571 PMID:6408499 PMID:6450334 PMID:7919972 PMID:8504498 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15792868 PMID:15889279 PMID:15907287 PMID:16190986 PMID:16217705 PMID:16565504 PMID:17899313 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21070164 PMID:21415759 PMID:21520333 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23785128 PMID:24033266 PMID:24503780 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25741868 PMID:25826782 PMID:26748608 PMID:27066507 PMID:27179547 PMID:27532257 PMID:27600940 PMID:27678261 PMID:28492532 PMID:28771489 PMID:29753918 PMID:29915097, PMID:29720683 |
RGD:13703117 |
NCBI chr X:124,722,628...124,766,079
Ensembl chr X:124,722,628...124,766,044
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Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
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IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:29720683 |
RGD:13703117 |
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G |
LOC100364002 |
reproductive homeobox 9-like |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:123,999,683...124,002,081
Ensembl chr X:123,999,683...124,002,073
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G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:123,803,109...123,806,760
Ensembl chr X:124,513,269...124,516,705 Ensembl chr X:124,513,269...124,516,705
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G |
Nkap |
NFKB activating protein |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:123,751,196...123,770,595
Ensembl chr X:123,751,089...123,770,595
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G |
Rhox10 |
reproductive homeobox 10 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:124,207,017...124,211,455
Ensembl chr X:124,207,017...124,211,455
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G |
Rnf113a1 |
ring finger protein 113A1 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:123,806,922...123,808,049
Ensembl chr X:124,516,949...124,518,077
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G |
Tmem255a |
transmembrane protein 255A |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:124,400,686...124,465,156
Ensembl chr X:124,328,735...124,465,110
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Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:123,713,327...123,731,431
Ensembl chr X:123,713,339...123,731,385
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G |
Zbtb33 |
zinc finger and BTB domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
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NCBI chr X:124,319,299...124,326,506
Ensembl chr X:124,321,551...124,323,960
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G |
Dhdds |
dehydrodolichyl diphosphate synthase subunit |
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ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES |
ClinVar OMIM |
PMID:25741868 PMID:29100083 |
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NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
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G |
Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,151,376...35,200,501
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
severity |
ISO |
ClinVar Annotator: match by OMIM:300672 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 DNA:mutations:cds: |
ClinVar OMIM |
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26467025 PMID:26482601 PMID:27081548 PMID:27187038 PMID:27848944 PMID:28492532 PMID:28837158 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29655203 PMID:30311386 PMID:30776697 PMID:31791873, PMID:22678952 |
RGD:12791015 |
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,312,102...34,675,912
Ensembl chr X:34,623,405...34,673,742
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G |
Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,731,891...34,794,589
Ensembl chr X:34,731,891...34,794,589
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203 PMID:30311386 |
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NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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G |
Scml1 |
Scm polycomb group protein like 1 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:34,676,728...34,694,251
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G |
Scml2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 |
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NCBI chr X:35,305,235...35,431,271
Ensembl chr X:35,305,236...35,431,164
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by OMIM:300968 ClinVar Annotator: match by term: Mental retardation, X-linked 99, syndromic, female-restricted |
ClinVar OMIM |
PMID:25741868 PMID:26833328 |
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NCBI chr X:10,510,033...10,660,555
Ensembl chr X:10,510,033...10,630,297
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
DNA:missense mutation:exon:p.R28L (c.83G>T) (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19200522 |
RGD:11576290 |
NCBI chr X:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
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G |
Flna |
filamin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17632775 |
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NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keller syndrome DNA:missense mutation:cds:2881C>T(p.R961W)(human) DNA:missense mutation:cds:p.G958E(human) |
CTD ClinVar |
PMID:10982179 PMID:17334363 PMID:18414213 PMID:23757202 PMID:24728327 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26813965 PMID:28492532 PMID:30311386, PMID:17334363, PMID:20507344 |
RGD:12910952, RGD:12910948 |
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,272,030...71,279,973
Ensembl chr X:71,272,042...71,279,977
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
OMIM ClinVar |
PMID:10405444 PMID:10982179 PMID:17334363 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23757202 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26813965 PMID:28369444 PMID:28492532 PMID:30311386 |
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NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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G |
Nlgn3 |
neuroligin 3 |
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ISO |
ClinVar Annotator: match by term: FG syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr X:71,199,390...71,227,460
Ensembl chr X:71,199,491...71,222,732
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: FG syndrome 2 |
ClinVar OMIM |
PMID:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 PMID:28492532 |
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NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar Annotator: match by term: FG syndrome 4 ClinVar Annotator: match by term: CASK-Related Disorder |
ClinVar OMIM |
PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 PMID:21609947 PMID:21735175 PMID:21954287 PMID:22452838 PMID:22709267 PMID:23165780 PMID:24893065 PMID:25741868 PMID:26467025 PMID:27799067 PMID:28492532 PMID:28783747 PMID:29691940 |
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NCBI chr X:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
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G |
Gpr34 |
G protein-coupled receptor 34 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked |
ClinVar |
PMID:21735175 PMID:28492532 |
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NCBI chr X:10,022,986...10,043,504
Ensembl chr X:10,023,489...10,031,167
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G |
Gpr82 |
G protein-coupled receptor 82 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked |
ClinVar |
PMID:21735175 PMID:28492532 |
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NCBI chr X:9,992,832...10,001,036
Ensembl chr X:9,998,415...9,999,401
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G |
Adgb |
androglobin |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:4,445,039...4,588,507
Ensembl chr 1:4,445,027...4,560,789
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G |
Aff2 |
AF4/FMR2 family, member 2 |
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ISO |
ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME ClinVar Annotator: match by OMIM:309548 |
OMIM ClinVar |
PMID:18414213 PMID:21739600 PMID:22773736 PMID:23562910 PMID:25741868 PMID:28492532 |
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NCBI chr X:153,539,951...154,051,022
Ensembl chr X:153,539,668...154,051,181
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G |
App |
amyloid beta precursor protein |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22046307 |
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NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
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ISO |
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RGD |
PMID:22900020 |
RGD:11558008 |
NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
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ISO |
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RGD |
PMID:24352881 |
RGD:10401097 |
NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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G |
Fmr1 |
FMRP translational regulator 1 |
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ISO IMP |
DNA:trinucleotide expansion compared to SD control;DNA:deletion:intron 7, exon 8: ClinVar Annotator: match by term: Fragile X syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:300624 |
ClinVar CTD OMIM |
PMID:7530551 PMID:7633450 PMID:7670500 PMID:8156595 PMID:8490650 PMID:9659908 PMID:15028757 PMID:15805463 PMID:16043816 PMID:16510718 PMID:17065172 PMID:18664458 PMID:18835858 PMID:20300527 PMID:21267007 PMID:22043169 PMID:28616095, PMID:1675488, PMID:30877790, PMID:27465362, PMID:28894415, PMID:24713347, PMID:12032354 |
RGD:1601178, RGD:38548928, RGD:38548926, RGD:38501107, RGD:11566052, RGD:11566028 |
NCBI chr X:154,684,924...154,722,369
Ensembl chr X:154,684,935...154,722,314
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G |
Fmr1em1Sage |
fragile X mental retardation 1;zinc finger nuclease induced mutant 1, Sigma Advanced Genetic Engineering Labs |
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IMP |
DNA:deletion:intron 7, exon 8: compared to SD control;DNA:deletion:intron 7, exon 8: |
RGD |
PMID:27465362, PMID:30877790 |
RGD:38548926, RGD:38548928 |
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G |
Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
protein:increased expression:brain |
RGD |
PMID:25466251, PMID:26850918 |
RGD:13204755, RGD:11572344 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Nrxn3 |
neurexin 3 |
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ISO |
mRNA:decreased expression:hippocampus,somatosendory cortex |
RGD |
PMID:26235839 |
RGD:11554325 |
NCBI chr 6:112,133,204...114,069,589
Ensembl chr 6:112,133,204...114,067,564
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G |
Rab32 |
RAB32, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Fragile X syndrome |
ClinVar |
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NCBI chr 1:4,638,663...4,653,220
Ensembl chr 1:4,637,491...4,653,210
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G |
Serpina1 |
serpin family A member 1 |
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ISO |
ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME |
ClinVar |
PMID:1608473 PMID:1889260 PMID:2339709 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6306478 PMID:7045697 PMID:7227484 PMID:8970361 PMID:9041988 PMID:9195389 PMID:9569237 PMID:12034572 PMID:14522813 PMID:15115878 PMID:15454649 PMID:15978931 PMID:17964515 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18682522 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:25181470 PMID:25741868 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26672964 PMID:26831755 PMID:26987331 PMID:28492532 |
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NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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G |
Fmr1 |
FMRP translational regulator 1 |
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ISO |
human gene in a mouse model CTD Direct Evidence: marker/mechanism |
OMIM CTD |
PMID:27385396, PMID:15876460 |
RGD:12050151 |
NCBI chr X:154,684,924...154,722,369
Ensembl chr X:154,684,935...154,722,314
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
mRNA:increased expression:prefrontal cortex, brain stem (mouse) |
RGD |
PMID:24418349 |
RGD:8655858 |
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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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, HACKMANN-DI DONATO TYPE |
OMIM ClinVar |
PMID:26358559 PMID:31587868 |
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NCBI chr X:123,751,196...123,770,595
Ensembl chr X:123,751,089...123,770,595
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G |
Foxp1 |
forkhead box P1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation with language impairment and with or without autistic features ClinVar Annotator: match by OMIM:613670 |
OMIM ClinVar |
PMID:20950788 PMID:24214399 PMID:25131622 PMID:25326635 PMID:25363768 PMID:25741868 PMID:26647308 PMID:27657687 PMID:27824329 PMID:28492532 PMID:28708303 PMID:28741757 PMID:28884888 PMID:30311386 PMID:30385778 PMID:31199603 PMID:31474318 PMID:32860008 |
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NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
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G |
Ube3b |
ubiquitin protein ligase E3B |
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ISO |
ClinVar Annotator: match by term: Kaufman oculocerebrofacial syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:23200864 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 |
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NCBI chr12:47,946,691...47,991,973
Ensembl chr12:47,948,247...47,990,105
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Lesch-Nyhan syndrome ClinVar Annotator: match by term: HPRT PARIS DNA:deletion,insertion,duplication:cds: DNA:mutations:multiple: ClinVar Annotator: match by term: HPRT EVANSVILLE ClinVar Annotator: match by term: HPRT NEW BRITON ClinVar Annotator: match by term: HPRT FLINT ClinVar Annotator: match by term: HPRT CONNERSVILLE ClinVar Annotator: match by term: HPRT MIDLAND ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:300322 |
OMIM ClinVar |
PMID:1434518 PMID:1618489 PMID:1639405 PMID:1840549 PMID:1934271 PMID:1937471 PMID:2071157 PMID:2323782 PMID:2347587 PMID:2738157 PMID:2760209 PMID:2910902 PMID:2928313 PMID:3198771 PMID:3384338 PMID:3909940 PMID:3944251 PMID:6087154 PMID:6853716 PMID:8664901 PMID:9288634 PMID:10767182 PMID:11668636 PMID:17027311 PMID:23975452 PMID:25481104 PMID:25741868 PMID:28492532 PMID:28708303, PMID:24940672, PMID:20638392 |
RGD:13463104, RGD:13462064 |
NCBI chr X:158,196,640...158,228,815
Ensembl chr X:158,197,149...158,228,749
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Xdh |
xanthine dehydrogenase |
treatment |
ISO |
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RGD |
PMID:17697859 |
RGD:7247657 |
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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G |
Hprt1 |
hypoxanthine phosphoribosyltransferase 1 |
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ISO |
ClinVar Annotator: match by null ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant DNA,mRNA:missense mutations,decreased expression:cds: |
ClinVar |
PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:25481104 PMID:28492532, PMID:24940672 |
RGD:13463104 |
NCBI chr X:158,196,640...158,228,815
Ensembl chr X:158,197,149...158,228,749
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G |
Dcx |
doublecortin |
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ISO |
ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked |
ClinVar |
PMID:9489699 PMID:9489700 PMID:10441340 PMID:11468322 PMID:12552055 PMID:17111359 PMID:18414213 PMID:25326635 PMID:25741868 |
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NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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G |
Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Lissencephaly 2, X-linked ClinVar Annotator: match by term: X-linked lissencephaly 2 DNA:mutations:multiple (human) ClinVar Annotator: match by OMIM:300215 |
OMIM ClinVar |
PMID:11891829 PMID:11971879 PMID:12379852 PMID:12874405 PMID:12874418 PMID:14722918 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532, PMID:12379852 |
RGD:11565832 |
NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: X-linked mental retardation with marfanoid habitus syndrome ClinVar Annotator: match by term: Lujan Fryns syndrome DNA:missense mutation:cds:p.N1007S(human) ClinVar Annotator: match by OMIM:309520 |
OMIM ClinVar |
PMID:6711603 PMID:10405444 PMID:17334363 PMID:17369503 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:25326635 PMID:25326637 PMID:25741868 PMID:28369444 PMID:28492532, PMID:17369503 |
RGD:12910949 |
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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G |
MAST1 |
microtubule associated serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS |
OMIM ClinVar |
PMID:25741868 PMID:30449657 |
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NCBI chr19:26,026,045...26,053,762
Ensembl chr19:26,026,043...26,053,762
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G |
Eif2s3 |
eukaryotic translation initiation factor 2 subunit gamma |
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ISO |
ClinVar Annotator: match by term: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ClinVar Annotator: match by term: MEHMO syndrome |
ClinVar OMIM |
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 |
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NCBI chr X:63,268,106...63,291,125
Ensembl chr X:63,268,037...63,292,092
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G |
Atp7a |
ATPase copper transporting alpha |
severity |
ISO |
ClinVar Annotator: match by term: Menkes kinky-hair syndrome DNA:duplication:exon: ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive ClinVar Annotator: match by term: Menkes disease, mild CTD Direct Evidence: marker/mechanism DNA:deletion:exons, introns:p.G876delX2 (human) DNA:mutations:multiple (human) DNA:deletion:cds:p.A799_L800del (mouse) DNA:snp:intron:c.4268+3A>T (human) ClinVar Annotator: match by OMIM:309400 |
ClinVar CTD OMIM |
PMID:7842019 PMID:7977350 PMID:8812725 PMID:8981948 PMID:9246006 PMID:9894833 PMID:10319589 PMID:10570920 PMID:10739752 PMID:11092760 PMID:11157799 PMID:11241493 PMID:11350187 PMID:12221109 PMID:12228238 PMID:12676902 PMID:14579150 PMID:14635105 PMID:15372525 PMID:15923132 PMID:16083905 PMID:16435190 PMID:16824500 PMID:16826513 PMID:17003121 PMID:17009961 PMID:17108763 PMID:17483305 PMID:17496194 PMID:18414213 PMID:18779302 PMID:19153371 PMID:19194885 PMID:20045993 PMID:20170900 PMID:20301586 PMID:20652413 PMID:20831904 PMID:21208200 PMID:21242307 PMID:21494555 PMID:21667063 PMID:22130675 PMID:22210628 PMID:22455587 PMID:22664332 PMID:22695177 PMID:22728746 PMID:22815746 PMID:22981378 PMID:23064757 PMID:23281160 PMID:24033266 PMID:24627433 PMID:25003971 PMID:25247420 PMID:25741868 PMID:26117549 PMID:26199316 PMID:28119449 PMID:28251916 PMID:28451781 PMID:28492532 PMID:30311386 PMID:31319225 PMID:32005694, PMID:10739752, PMID:22074552, PMID:20497190, PMID:21208200, PMID:9215672, PMID:7842019 |
RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 |
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
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G |
Cp |
ceruloplasmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22243965 |
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NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
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G |
Lox |
lysyl oxidase |
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ISO ISS |
OMIM:309400 |
MouseDO |
PMID:8638917 |
RGD:1581895 |
NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089445 |
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NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21807943 |
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NCBI chr X:64,249,576...64,428,444
Ensembl chr X:64,248,278...64,428,592
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G |
Arx |
aristaless related homeobox |
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ISO |
DNA:missense mutation:cds:p.L33P (human) DNA:duplication:exon:c.428-451dup (human) |
RGD |
PMID:11971879, PMID:15850492 |
RGD:1599257, RGD:11565836 |
NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
DNA:missense mutation:cds:p.T1621M (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19291773, PMID:12116232 |
RGD:11040586 |
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19165920 PMID:19377476 |
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NCBI chr X:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
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G |
Dipk2b |
divergent protein kinase domain 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21264219 |
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NCBI chr X:4,691,406...4,743,999
Ensembl chr X:4,691,172...4,739,890
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G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
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ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15185169, PMID:15185169 |
RGD:1300392 |
NCBI chr X:70,596,246...70,648,529
Ensembl chr X:70,596,576...70,648,532
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G |
Efhc2 |
EF-hand domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked |
ClinVar |
PMID:17221867 PMID:25741868 |
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NCBI chr X:5,825,551...6,026,398
Ensembl chr X:5,825,711...6,026,398
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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11940089 |
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NCBI chr X:20,100,942...20,143,871
Ensembl chr X:20,216,587...20,225,955 Ensembl chr X:20,216,587...20,225,955
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:frameshift mutation:cds:p.S396PfsX15 (human) |
CTD |
PMID:8826463 PMID:9668174, PMID:22002931 |
RGD:13208827 |
NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18801879 |
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NCBI chr X:55,439,388...57,004,865
Ensembl chr X:55,439,578...56,765,893
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20473311 |
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NCBI chr X:22,212,137...22,293,810
Ensembl chr X:22,212,132...22,294,402
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G |
Maoa |
monoamine oxidase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8503438 |
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NCBI chr X:6,554,698...6,620,722
Ensembl chr X:6,554,698...6,620,722
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
DNA:missense mutations:cds:p.E137G, p.R167W (human) |
RGD |
PMID:11309367 |
RGD:1601320 |
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
DNA:duplication mutation:cds:c.5898dupC(p.S1967Qfs84)(human) DNA:missense mutation:cds:2881C>T(p.R961W)(human) |
RGD |
PMID:24039113, PMID:17334363 |
RGD:12910947, RGD:12910952 |
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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G |
Ophn1 |
oligophrenin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:deletion:exon DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human) |
CTD |
PMID:17941886, PMID:12805098, PMID:21796728 |
RGD:13207442, RGD:13207441 |
NCBI chr X:68,185,865...68,579,518
Ensembl chr X:68,189,161...68,563,137
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G |
Pcdh19 |
protocadherin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18469813 |
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NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 PMID:15024694 |
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NCBI chr X:15,448,570...15,453,130
Ensembl chr X:15,348,138...15,453,130
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G |
Ptchd1 |
patched domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21091464 |
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NCBI chr X:42,558,912...42,610,430
Ensembl chr X:42,558,931...42,614,242
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18350323 |
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NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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G |
Syp |
synaptophysin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19377476 |
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NCBI chr X:15,694,699...15,709,244
Ensembl chr X:15,695,566...15,707,436
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17704778 |
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NCBI chr X:123,713,327...123,731,431
Ensembl chr X:123,713,339...123,731,385
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G |
Zfp711 |
zinc finger protein 711 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19377476 |
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NCBI chr X:84,062,363...84,095,888
Ensembl chr X:84,064,427...84,096,617
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 102 ClinVar Annotator: match by OMIM:300958 |
OMIM ClinVar |
PMID:2563148 PMID:18414213 PMID:25741868 PMID:26235985 PMID:27159028 PMID:28371085 PMID:28492532 PMID:29490693 PMID:30349862 PMID:30734472 PMID:30817323 PMID:30936465 PMID:31274575 PMID:31474318 |
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NCBI chr X:10,400,363...10,414,010
Ensembl chr X:10,400,366...10,413,995
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 102 |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
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NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
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G |
Magt1 |
magnesium transporter 1 |
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ISO |
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OMIM |
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NCBI chr X:77,023,423...77,061,603
Ensembl chr X:77,020,402...77,061,667
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G |
Taf1 |
TATA-box binding protein associated factor 1 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic 33 |
ClinVar OMIM |
PMID:25741868 PMID:26637982 |
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NCBI chr X:71,412,291...71,486,456
Ensembl chr X:71,412,289...71,485,085
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G |
Hnrnph1 |
heterogeneous nuclear ribonucleoprotein H1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Bain type |
ClinVar |
PMID:25741868 |
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NCBI chr10:35,872,619...35,879,911
Ensembl chr10:35,870,232...35,879,910
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G |
Hnrnph2 |
heterogeneous nuclear ribonucleoprotein H2 |
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ISO |
ClinVar Annotator: match by OMIM:300986 ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Bain type |
ClinVar OMIM |
PMID:20308327 PMID:24033266 PMID:25741868 PMID:27545675 PMID:29938792 PMID:30887513 PMID:31236915 PMID:31670473 PMID:31943778 |
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NCBI chr X:105,417,603...105,423,531
Ensembl chr X:105,419,285...105,422,861
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G |
Ube2a |
ubiquitin-conjugating enzyme E2A |
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ISO |
ClinVar Annotator: match by term: UBE2A-Related X-Linked Syndromic Mental Retardation |
ClinVar |
PMID:25741868 |
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NCBI chr X:123,486,988...123,497,726
Ensembl chr X:123,486,989...123,497,726
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G |
Sox3 |
SRY-box transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency DNA:duplication:cds:c.712_744dup (human) |
ClinVar |
PMID:8826446 PMID:12428212, PMID:12428212 |
RGD:11535974 |
NCBI chr X:144,035,162...144,037,364
Ensembl chr X:144,035,883...144,037,294
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome, X-linked ClinVar Annotator: match by term: XLMR-HYPOTONIC FACIES SYNDROME ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 ClinVar Annotator: match by term: ATRX-Related Disorder DNA:mutation:exon:c. 6740A>C (p.H224P)(human) ClinVar Annotator: match by OMIM:309580 DNA:nonsense mutation:exon:324C>T (p.R37X) (human) DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human) |
OMIM ClinVar |
PMID:1684092 PMID:3239563 PMID:6682021 PMID:6711605 PMID:8630485 PMID:8968741 PMID:9043863 PMID:9244431 PMID:9326931 PMID:10398234 PMID:10398237 PMID:10632111 PMID:10751095 PMID:10995512 PMID:11050622 PMID:15508018 PMID:15565397 PMID:15591283 PMID:16222662 PMID:16813605 PMID:16955409 PMID:18409179 PMID:18414213 PMID:20500465 PMID:24327140 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284, PMID:26997013, PMID:10632111, PMID:8630485 |
RGD:13442490, RGD:11040909, RGD:1599406 |
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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G |
Epor |
erythropoietin receptor |
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ISO |
ClinVar Annotator: match by term: Holmes-Gang syndrome |
ClinVar |
PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 |
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NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
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G |
Cenpt |
centromere protein T |
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ISO |
ClinVar Annotator: match by term: Mental retardation 3, X-linked |
ClinVar |
PMID:25741868 |
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NCBI chr19:37,813,284...37,819,782
Ensembl chr19:37,812,751...37,819,789
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 3, X-linked ClinVar Annotator: match by OMIM:309541 |
OMIM ClinVar |
PMID:1870093 PMID:23000143 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28492532 |
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NCBI chr X:156,812,012...156,837,227
Ensembl chr X:156,812,064...156,837,227
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G |
Thap11 |
THAP domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 3, X-linked |
ClinVar |
PMID:25741868 |
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NCBI chr19:37,825,576...37,827,393
Ensembl chr19:37,825,576...37,827,393
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G |
Zc4h2 |
zinc finger C4H2-type containing |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Wieacker Wolff syndrome ClinVar Annotator: match by term: MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH CONGENITAL CONTRACTURES AND LOW FINGERTIP ARCHES ClinVar Annotator: match by term: Wieacker syndrome |
CTD ClinVar OMIM |
PMID:1915520 PMID:2018061 PMID:4039531 PMID:23623388 PMID:25741868 PMID:26056227 PMID:28814648 PMID:31206972 |
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NCBI chr X:64,887,978...64,908,682
Ensembl chr X:64,887,978...64,908,682
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G |
Ids |
iduronate 2-sulfatase |
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ISO |
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form ClinVar Annotator: match by term: SULFOIDURONATE SULFATASE DEFICIENCY ClinVar Annotator: match by term: SIDS deficiency DNA:mutations:exon, intron:multiple ClinVar Annotator: match by OMIM:309900 ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM |
ClinVar OMIM |
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 PMID:1906048 PMID:7581397 PMID:7728156 PMID:7814022 PMID:7866405 PMID:7887413 PMID:8111411 PMID:8318991 PMID:8364592 PMID:8664909 PMID:8829647 PMID:8829661 PMID:8830188 PMID:8940265 PMID:9222763 PMID:9266380 PMID:9375851 PMID:9501270 PMID:9573369 PMID:9660053 PMID:9875019 PMID:9921913 PMID:9950361 PMID:10215411 PMID:10220152 PMID:10814710 PMID:10838181 PMID:11683780 PMID:11731225 PMID:14728992 PMID:15614569 PMID:16133661 PMID:16480701 PMID:17063374 PMID:17091340 PMID:17284421 PMID:17343270 PMID:17391447 PMID:18414213 PMID:18500569 PMID:20104590 PMID:20301451 PMID:21291454 PMID:21639919 PMID:21829674 PMID:22190500 PMID:22492741 PMID:22912587 PMID:22976768 PMID:22990955 PMID:24125893 PMID:24268528 PMID:24515576 PMID:24780617 PMID:25681085 PMID:25741868 PMID:26407519 PMID:26693516 PMID:26752647 PMID:26762690 PMID:27146977 PMID:27246110 PMID:27351199 PMID:27883178 PMID:27896113 PMID:28077157 PMID:28492532 PMID:28543354 PMID:29801497 PMID:30639582 PMID:30809705, PMID:1550586, PMID:27146977 |
RGD:1599819, RGD:12910721 |
NCBI chr 8:69,447,971...69,466,708
Ensembl chr 8:69,449,801...69,466,618
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G |
Stag2 |
stromal antigen 2 |
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ISO |
ClinVar Annotator: match by term: MULLEGAMA-KLEIN-MARTINEZ SYNDROME ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH CRANIOFACIAL ABNORMALITIES |
OMIM ClinVar |
PMID:25741868 PMID:28296084 PMID:29263825 PMID:30158690 PMID:30447054 PMID:30765867 PMID:31334757 |
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NCBI chr X:128,493,603...128,624,418
Ensembl chr X:128,493,614...128,624,418
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G |
Arhgef2 |
Rho/Rac guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with midbrain and hindbrain malformations |
ClinVar OMIM |
PMID:28453519 |
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NCBI chr 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
|
ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS |
ClinVar OMIM |
PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28590052 PMID:28856709 PMID:29100083 PMID:29369404 |
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NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:113,596,247...113,660,024
Ensembl chr X:113,596,239...113,659,944
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:159,722,031...159,841,344
Ensembl chr X:159,723,866...159,841,072
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G |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked |
ClinVar |
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NCBI chr X:79,817,968...79,909,891
Ensembl chr X:79,824,782...79,909,678
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G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
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ISS |
OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 |
MouseDO |
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NCBI chr X:70,596,246...70,648,529
Ensembl chr X:70,596,576...70,648,532
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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
DNA:missense mutation:cds:p.P312L (human) |
RGD |
PMID:11940089 |
RGD:11554032 |
NCBI chr X:20,100,942...20,143,871
Ensembl chr X:20,216,587...20,225,955 Ensembl chr X:20,216,587...20,225,955
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO ISS |
DNA:nonsense mutation, missense mutation:cds:p.R70X, p.L92P (human) OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 DNA:missense mutation:cds:p.R423P (human) |
MouseDO |
PMID:9620768, PMID:9668174 |
RGD:13208823, RGD:13208831 |
NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked |
ClinVar |
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NCBI chr X:55,439,388...57,004,865
Ensembl chr X:55,439,578...56,765,893
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISS |
OMIM:300046 | OMIM:300047 | OMIM:300062 | OMIM:300114 | OMIM:300115 | OMIM:300143 | OMIM:300210 | OMIM:300271 | OMIM:300324 | OMIM:300355 | OMIM:300372 | OMIM:300387 | OMIM:300428 | OMIM:300433 | OMIM:300436 | OMIM:300454 | OMIM:300498 | OMIM:300504 | OMIM:300505 | OMIM:300518 | OMIM:300558 | OMIM:300577 | OMIM:300659 | OMIM:300716 | OMIM:300802 | OMIM:300803 | OMIM:300844 | OMIM:300848 | OMIM:300849 | OMIM:300850 | OMIM:300851 | OMIM:300852 | OMIM:300912 | OMIM:300919 | OMIM:300923 | OMIM:309530 | OMIM:309549 |
MouseDO |
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NCBI chr X:22,212,137...22,293,810
Ensembl chr X:22,212,132...22,294,402
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G |
LOC100363372 |
zinc finger protein 81 (HFZ20)-like |
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ISO |
ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked |
ClinVar |
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NCBI chr X:1,034,455...1,112,282
Ensembl chr X:1,031,035...1,076,850
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:15351775 PMID:26605526 PMID:27247049 PMID:29618507 PMID:32043567 |
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NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Pak3 |
p21 (RAC1) activated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked |
ClinVar |
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NCBI chr X:114,784,452...115,042,683
Ensembl chr X:114,929,029...115,036,669
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G |
Pof1b |
POF1B, actin binding protein |
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ISO |
ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked |
ClinVar |
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NCBI chr X:84,099,618...84,167,717
Ensembl chr X:84,099,618...84,167,717
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G |
Ptchd1 |
patched domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
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NCBI chr X:42,558,912...42,610,430
Ensembl chr X:42,558,931...42,614,242
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G |
Rlim |
ring finger protein, LIM domain interacting |
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ISO |
ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability |
ClinVar |
PMID:25735484 |
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NCBI chr X:73,757,664...73,778,763
Ensembl chr X:73,762,691...73,778,674 Ensembl chr X:73,762,691...73,778,674
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G |
Zfp711 |
zinc finger protein 711 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, nonsyndromic, X-linked |
ClinVar |
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NCBI chr X:84,062,363...84,095,888
Ensembl chr X:84,064,427...84,096,617
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 1 ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked mental retardation 18 ClinVar Annotator: match by OMIM:309530 |
OMIM ClinVar CTD |
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:18414213 PMID:20473311 PMID:21686261 PMID:23020937 PMID:23674175 PMID:23934111 PMID:24306141 PMID:24759409 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26633542 PMID:26733290 PMID:26793055 PMID:26795593 PMID:27009485 PMID:27369185 PMID:27652284 PMID:27665735 PMID:27864847 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29322350 PMID:29720203 PMID:30206421 PMID:30311386 |
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NCBI chr X:22,212,137...22,293,810
Ensembl chr X:22,212,132...22,294,402
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G |
Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 1 |
ClinVar |
PMID:20400964 PMID:21990120 PMID:22006311 PMID:22538716 PMID:24139550 PMID:24315737 PMID:24549055 PMID:24800917 PMID:25452441 PMID:25741868 PMID:26261251 PMID:26681312 PMID:28123851 PMID:28152038 PMID:28492532 PMID:28905878 PMID:29053726 PMID:29255180 |
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NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 78 |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,710,976...21,755,708
Ensembl chr X:21,711,019...21,755,525
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G |
Kif4a |
kinesin family member 4A |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 100 |
OMIM ClinVar |
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NCBI chr X:70,461,700...70,561,084
Ensembl chr X:70,461,718...70,561,189
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G |
Mid2 |
midline 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 101 |
ClinVar OMIM |
PMID:24115387 PMID:25741868 |
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NCBI chr X:112,019,897...112,121,980
Ensembl chr X:112,020,646...112,121,943
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G |
Klhl15 |
kelch-like family member 15 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 103 ClinVar Annotator: match by term: Mental retardation, X-linked 103 |
ClinVar OMIM |
PMID:24817631 PMID:25644381 PMID:25741868 |
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NCBI chr X:63,342,277...63,390,915
Ensembl chr X:63,343,546...63,389,989
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G |
Frmpd4 |
FERM and PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 104 |
ClinVar OMIM |
PMID:25644381 PMID:25741868 PMID:29267967 |
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NCBI chr X:27,231,648...28,206,890
Ensembl chr X:28,072,826...28,204,260
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G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 105 |
ClinVar OMIM |
PMID:25644381 |
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NCBI chr X:15,987,964...15,991,149
Ensembl chr X:15,988,604...15,990,484
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G |
Ogt |
O-linked N-acetylglucosamine (GlcNAc) transferase |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 106 |
ClinVar OMIM |
PMID:9083067 PMID:12724313 PMID:21240259 PMID:25679214 PMID:25741868 PMID:26273451 PMID:28302723 PMID:28584052 PMID:29769320 PMID:31627256 |
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NCBI chr X:71,540,870...71,585,906
Ensembl chr X:71,528,988...71,585,908
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G |
Steep1 |
STING1 ER exit protein 1 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 107 |
ClinVar OMIM |
PMID:29374277 |
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NCBI chr X:123,460,280...123,486,814
Ensembl chr X:123,460,280...123,486,814
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 19 ClinVar Annotator: match by OMIM:300844 |
OMIM ClinVar |
PMID:10319851 PMID:11180593 PMID:17100996 PMID:19377476 PMID:25741868 PMID:28492532 |
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NCBI chr X:37,469,736...37,576,055
Ensembl chr X:37,469,937...37,575,624
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G |
Il1rapl1 |
interleukin 1 receptor accessory protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Mental retardation 21, X-linked ClinVar Annotator: match by OMIM:300143 |
OMIM ClinVar |
PMID:8230164 PMID:10471494 PMID:16470793 PMID:18801879 PMID:19012350 PMID:21484992 PMID:25741868 PMID:28492532 |
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NCBI chr X:55,439,388...57,004,865
Ensembl chr X:55,439,578...56,765,893
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G |
Pak3 |
p21 (RAC1) activated kinase 3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 30, X-linked ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 47 ClinVar Annotator: match by OMIM:300558 |
OMIM ClinVar |
PMID:8826460 PMID:9332663 PMID:9731525 PMID:10946356 PMID:12884430 PMID:17853471 PMID:18523455 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:114,784,452...115,042,683
Ensembl chr X:114,929,029...115,036,669
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: X-Linked Mental Retardation 41 ClinVar Annotator: match by OMIM:300849 |
OMIM ClinVar |
PMID:8826463 PMID:9106537 PMID:9620768 PMID:9668174 PMID:25741868 |
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NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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G |
LOC100363372 |
zinc finger protein 81 (HFZ20)-like |
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ISO |
ClinVar Annotator: match by OMIM:300498 |
OMIM ClinVar |
PMID:10398246 PMID:15121780 |
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NCBI chr X:1,034,455...1,112,282
Ensembl chr X:1,031,035...1,076,850
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G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 46, X-linked ClinVar Annotator: match by term: X-linked mental retardation 46 |
OMIM ClinVar |
PMID:11017088 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr X:159,722,031...159,841,344
Ensembl chr X:159,723,866...159,841,072
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G |
Syn1 |
synapsin I |
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ISO |
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OMIM |
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NCBI chr X:1,321,315...1,379,202
Ensembl chr X:1,321,315...1,379,198
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G |
Tspan7 |
tetraspanin 7 |
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ISO |
ClinVar Annotator: match by term: X-linked mental retardation 58 ClinVar Annotator: match by OMIM:300210 |
OMIM ClinVar |
PMID:10449641 PMID:10655063 PMID:12070254 PMID:12376945 PMID:14735593 PMID:25741868 PMID:28492532 |
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NCBI chr X:13,261,551...13,282,886
Ensembl chr X:13,261,558...13,279,099
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 63, X-linked ClinVar Annotator: match by OMIM:300387 |
OMIM ClinVar |
PMID:11889465 PMID:12525535 PMID:25741868 |
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NCBI chr X:113,596,247...113,660,024
Ensembl chr X:113,596,239...113,659,944
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
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OMIM |
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NCBI chr X:123,713,327...123,731,431
Ensembl chr X:123,713,339...123,731,385
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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ISO |
ClinVar Annotator: match by term: X-Linked Mental Retardation 88 |
ClinVar |
PMID:12089445 PMID:12746399 PMID:14598163 PMID:14722754 PMID:16283672 PMID:18414213 PMID:23871722 |
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NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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G |
Ftsj1 |
FtsJ RNA 2'-O-methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Mental retardation 9, X-linked ClinVar Annotator: match by OMIM:309549 |
OMIM ClinVar |
PMID:8288232 PMID:10398246 PMID:15162322 PMID:15342698 PMID:25741868 |
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NCBI chr X:14,993,685...15,006,010
Ensembl chr X:14,994,016...15,002,074
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G |
Dlg3 |
discs large MAGUK scaffold protein 3 |
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ISO |
ClinVar Annotator: match by term: X-Linked mental retardation 90 ClinVar Annotator: match by OMIM:300850 |
OMIM ClinVar |
PMID:15185169 PMID:23020937 PMID:24721225 PMID:28492532 |
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NCBI chr X:70,596,246...70,648,529
Ensembl chr X:70,596,576...70,648,532
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G |
Zdhhc15 |
zinc finger DHHC-type palmitoyltransferase 15 |
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ISO |
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OMIM |
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NCBI chr X:75,433,957...75,566,531
Ensembl chr X:75,439,778...75,566,481
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G |
Brwd3 |
bromodomain and WD repeat domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 93 ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY ClinVar Annotator: match by OMIM:300659 |
OMIM ClinVar |
PMID:7943039 PMID:17668385 PMID:18414213 PMID:25326637 PMID:25741868 PMID:28492532 |
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NCBI chr X:79,817,968...79,909,891
Ensembl chr X:79,824,782...79,909,678
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G |
Syp |
synaptophysin |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 96 ClinVar Annotator: match by OMIM:300802 |
OMIM ClinVar |
PMID:19377476 PMID:25741868 |
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NCBI chr X:15,694,699...15,709,244
Ensembl chr X:15,695,566...15,707,436
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G |
Pof1b |
POF1B, actin binding protein |
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ISO |
ClinVar Annotator: match by term: ZNF711-Related X-linked Mental Retardation |
ClinVar |
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NCBI chr X:84,099,618...84,167,717
Ensembl chr X:84,099,618...84,167,717
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G |
Zfp711 |
zinc finger protein 711 |
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ISO |
ClinVar Annotator: match by term: ZNF711-Related X-linked Mental Retardation ClinVar Annotator: match by OMIM:300803 |
OMIM ClinVar |
PMID:10398247 PMID:19377476 PMID:25741868 PMID:27993705 PMID:28492532 |
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NCBI chr X:84,062,363...84,095,888
Ensembl chr X:84,064,427...84,096,617
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G |
Nexmif |
neurite extension and migration factor |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 98 ClinVar Annotator: match by OMIM:300912 |
OMIM ClinVar |
PMID:15466006 PMID:23615299 PMID:24307393 PMID:25741868 PMID:25900396 PMID:26576034 PMID:27358180 PMID:27568816 PMID:28492532 PMID:32860008 |
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NCBI chr X:74,943,440...75,053,559
Ensembl chr X:74,945,082...74,968,405
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G |
Ntf4 |
neurotrophin 4 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 99 |
ClinVar |
PMID:19765683 PMID:20215012 PMID:20463313 PMID:25741868 PMID:27535533 |
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NCBI chr 1:101,405,314...101,408,145
Ensembl chr 1:101,405,314...101,408,145
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked 99 ClinVar Annotator: match by term: USP9X related disorders |
ClinVar OMIM |
PMID:19377476 PMID:24607389 PMID:25741868 |
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NCBI chr X:10,510,033...10,660,555
Ensembl chr X:10,510,033...10,630,297
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G |
Arx |
aristaless related homeobox |
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ISO |
ClinVar Annotator: match by term: Mental retardation, with or without seizures, ARX-related, X-linked ClinVar Annotator: match by term: Mental retardation, X-linked 52 ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 87 ClinVar Annotator: match by term: X-linked mental retardation, with or without seizures, ARX-related ClinVar Annotator: match by OMIM:300419 |
OMIM ClinVar |
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:12379852 PMID:12640086 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16235064 PMID:16523516 PMID:17331656 PMID:17480217 PMID:17641262 PMID:18414213 PMID:19439424 PMID:20300201 PMID:20506206 PMID:21204215 PMID:21204226 PMID:21496008 PMID:25741868 PMID:26029707 PMID:26467025 PMID:28492532 PMID:30255221 |
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NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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G |
Hs6st2 |
heparan sulfate 6-O-sulfotransferase 2 |
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ISO |
ClinVar Annotator: match by term: PAGANINI-MIOZZO SYNDROME |
OMIM ClinVar |
PMID:30471091 |
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NCBI chr X:138,675,326...138,972,774
Ensembl chr X:138,677,580...138,972,684
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G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 36 ClinVar Annotator: match by term: Partington X-linked mental retardation syndrome DNA:duplication:exon:c.428-451dup (human) |
OMIM ClinVar |
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 |
RGD:11565843 |
NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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G |
Acox1 |
acyl-CoA oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency ClinVar Annotator: match by term: ACOX1-related condition ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy ClinVar Annotator: match by OMIM:264470 |
OMIM ClinVar |
PMID:2894756 PMID:8040306 PMID:8279468 PMID:11815777 PMID:17458872 PMID:18536048 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26965209 PMID:28492532 PMID:32169171 |
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NCBI chr10:104,724,534...104,748,003
Ensembl chr10:104,722,958...104,748,050
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G |
Ten1 |
TEN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy |
ClinVar |
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NCBI chr10:105,073,077...105,095,094
Ensembl chr10:105,073,077...105,095,094
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G |
Pex5 |
peroxisomal biogenesis factor 5 |
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ISO |
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OMIM |
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NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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G |
Nrl |
neural retina leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
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Pck2 |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
ClinVar OMIM |
PMID:24033266 PMID:25741868 |
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NCBI chr15:34,216,735...34,224,357
Ensembl chr15:34,216,833...34,224,193
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Nrxn1 |
neurexin 1 |
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ISO |
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar Annotator: match by OMIM:614325 |
OMIM ClinVar |
PMID:2504536 PMID:17034946 PMID:18179900 PMID:18414213 PMID:19896112 PMID:20347009 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:25614873 PMID:25661985 PMID:25741868 PMID:26325558 PMID:26467025 PMID:26742492 PMID:27195815 PMID:28289584 PMID:28492532 PMID:30311386 |
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NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
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Aadac |
arylacetamide deacetylase |
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ISO |
ClinVar Annotator: match by term: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED |
ClinVar |
PMID:21681106 PMID:25666259 |
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NCBI chr 2:150,146,234...150,157,480
Ensembl chr 2:150,146,234...150,157,480
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Fmr1 |
FMRP translational regulator 1 |
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ISO |
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RGD |
PMID:22470123 |
RGD:12050152 |
NCBI chr X:154,684,924...154,722,369
Ensembl chr X:154,684,935...154,722,314
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Apip |
APAF1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency |
ClinVar |
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NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
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Dlat |
dihydrolipoamide S-acetyltransferase |
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ISS |
OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 |
MouseDO |
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NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
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Dld |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
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Lamb1 |
laminin subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency |
ClinVar |
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NCBI chr 6:50,528,796...50,596,593
Ensembl chr 6:50,528,823...50,596,079
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Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO IMP |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency DNA:mutations: :multiple ClinVar Annotator: match by OMIM:312170 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:2378353 PMID:7692352 PMID:8032855 PMID:8598634 PMID:21914562 PMID:23871722 PMID:25741868 PMID:28492532, PMID:10679936, PMID:20685142, PMID:20002461 |
RGD:731230, RGD:13207454, RGD:13207453 |
NCBI chr X:37,329,779...37,343,410
Ensembl chr X:37,329,779...37,343,410
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Pdhb |
pyruvate dehydrogenase E1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15138885, PMID:15138885 |
RGD:1599115 |
NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
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Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO ISS |
ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 |
ClinVar MouseDO |
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NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
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Pdp1 |
pyruvate dehyrogenase phosphatase catalytic subunit 1 |
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ISS |
OMIM:245348 | OMIM:245349 | OMIM:312170 | OMIM:608782 | OMIM:614111 |
MouseDO |
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NCBI chr 5:25,577,593...25,584,325
Ensembl chr 5:25,577,451...25,584,288
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Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 |
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NCBI chr X:36,930,186...37,054,968
Ensembl chr X:36,930,186...37,003,642
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Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 |
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NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr X:37,342,251...37,755,373
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Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase e1-alpha deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 PMID:1779625 PMID:1907799 PMID:1909401 PMID:1909778 PMID:2828359 PMID:3034892 PMID:3137520 PMID:7573035 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8962591 PMID:9266390 PMID:9671272 PMID:9686362 PMID:10486093 PMID:10679936 PMID:10775534 PMID:11102541 PMID:11241048 PMID:12379317 PMID:12551913 PMID:17043409 PMID:18023225 PMID:18197404 PMID:20002125 PMID:20002461 PMID:20591708 PMID:20691944 PMID:21846590 PMID:21914562 PMID:22473288 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25495354 PMID:25590979 PMID:25741868 PMID:26633542 PMID:26865159 PMID:28492532 PMID:28639102 PMID:28918066 PMID:30311386 |
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NCBI chr X:37,329,779...37,343,410
Ensembl chr X:37,329,779...37,343,410
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Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
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Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 |
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NCBI chr X:35,970,650...36,926,616
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Ppef1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 |
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NCBI chr X:35,822,687...35,947,690
Ensembl chr X:35,869,538...35,947,282
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Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 |
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NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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Pdhb |
pyruvate dehydrogenase E1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency ClinVar Annotator: match by OMIM:614111 |
OMIM ClinVar |
PMID:15138885 PMID:18164639 PMID:19924563 PMID:21914562 PMID:25356417 PMID:25741868 PMID:26014431 PMID:26865159 PMID:28492532 |
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NCBI chr15:18,540,826...18,546,855
Ensembl chr15:18,539,210...18,546,854
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Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency ClinVar Annotator: match by OMIM:245348 |
OMIM ClinVar |
PMID:16049940 PMID:25741868 PMID:28492532 PMID:29093066 |
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NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
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Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:16049940 PMID:28492532 |
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NCBI chr 8:55,050,284...55,060,289
Ensembl chr 8:55,050,284...55,058,474
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Apip |
APAF1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency |
ClinVar |
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NCBI chr 3:92,969,128...92,998,104
Ensembl chr 3:92,969,141...92,995,483
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Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO |
ClinVar Annotator: match by OMIM:245349 ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency ClinVar Annotator: match by term: Pyruvate dehydrogenase e3-binding protein deficiency ClinVar Annotator: match by null |
ClinVar OMIM |
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 PMID:12557299 PMID:16566017 PMID:17152059 PMID:21937992 PMID:25087164 PMID:25326635 PMID:25741868 PMID:28492532 |
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NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
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Clcn4 |
chloride voltage-gated channel 4 |
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ISO |
ClinVar Annotator: match by OMIM:300114 ClinVar Annotator: match by term: CLCN4-related disorder ClinVar Annotator: match by term: Mental retardation 49, X-linked |
ClinVar OMIM |
PMID:8826458 PMID:9415477 PMID:23647072 PMID:25644381 PMID:25741868 PMID:25741869 PMID:27550844 PMID:28492532 |
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NCBI chr X:25,016,177...25,082,563
Ensembl chr X:25,016,401...25,080,410
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Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Renpenning syndrome 1 ClinVar Annotator: match by OMIM:309500 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6711604 PMID:9545405 PMID:13981686 PMID:15024694 PMID:15782410 PMID:16493439 PMID:16740914 PMID:20410308 PMID:20950397 PMID:21267006 PMID:21315190 PMID:21836667 PMID:24088041 PMID:24781215 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 PMID:30311386 |
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NCBI chr X:15,448,570...15,453,130
Ensembl chr X:15,348,138...15,453,130
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Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:18710461 |
RGD:5686812 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rett syndrome DNA:missense mutations:cds: |
CTD ClinVar |
PMID:18414213 PMID:19241098 PMID:19396824, PMID:23242510 |
RGD:11070543 |
NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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Egr2 |
early growth response 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19000991 |
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NCBI chr20:22,452,170...22,461,018
Ensembl chr20:22,454,463...22,459,025
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G |
Foxg1 |
forkhead box G1 |
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ISS |
OMIM:312750 | OMIM:613454 |
MouseDO |
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NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
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Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome |
ClinVar |
PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28590052 PMID:28856709 PMID:29100083 |
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NCBI chr 5:62,276,100...62,621,737
Ensembl chr 5:62,276,100...62,621,737
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Rett's disorder |
ClinVar |
PMID:15712379 |
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NCBI chr X:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
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G |
Kcnj10 |
potassium inwardly-rectifying channel, subfamily J, member 10 |
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ISO |
protein:increased expression:locus ceruleus |
RGD |
PMID:21307341 |
RGD:8662896 |
NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
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Mecp2 |
methyl CpG binding protein 2 |
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ISO IMP |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Rett syndrome ClinVar Annotator: match by term: Rett's disorder ClinVar Annotator: match by term: Rett Syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:312750 DNA:deletions:exons, introns, 3' utr:multiple (human) |
ClinVar CTD OMIM |
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:1402105 PMID:2460487 PMID:5300597 PMID:8177735 PMID:9038338 PMID:9377804 PMID:9546328 PMID:10508514 PMID:10577905 PMID:10737989 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11022934 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 PMID:11462237 PMID:11469283 PMID:11524737 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:11913564 PMID:11913567 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12481990 PMID:12567420 PMID:12615169 PMID:12655490 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12966522 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14593183 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15000811 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15241799 PMID:15287421 PMID:15389714 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15689438 PMID:15691364 PMID:15712379 PMID:15737703 PMID:15841480 PMID:15857422 PMID:15866439 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 PMID:16183801 PMID:16225173 PMID:16376510 PMID:16473305 PMID:16629931 PMID:16630165 PMID:16670375 PMID:16672765 PMID:16690727 PMID:16763963 PMID:16829352 PMID:16832102 PMID:16844334 PMID:16879196 PMID:16905679 PMID:16965328 PMID:16966553 PMID:17026625 PMID:17084570 PMID:17089071 PMID:17142618 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17433737 PMID:17440498 PMID:17505203 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18174548 PMID:18174559 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18499664 PMID:18562141 PMID:18652533 PMID:18678449 PMID:18688080 PMID:18842453 PMID:18989701 PMID:19000991 PMID:19034540 PMID:19133691 PMID:19189931 PMID:19190538 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19365833 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19559301 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:19921286 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21212452 PMID:21300488 PMID:21316312 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21695138 PMID:21764336 PMID:21812101 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21966470 PMID:21982064 PMID:22001500 PMID:22182064 PMID:22213695 PMID:22277191 PMID:22343140 PMID:22368975 PMID:22476991 PMID:22497713 PMID:22525432 PMID:22532851 PMID:22561697 PMID:22923521 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23866855 PMID:23892605 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24328834 PMID:24399845 PMID:24508304 PMID:24511209 PMID:24626160 PMID:24715477 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25541993 PMID:25634563 PMID:25644311 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26214522 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26842955 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27442528 PMID:27465203 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28250423 PMID:28394482 PMID:28397838 PMID:28492532 PMID:28498846 PMID:28544139 PMID:28592917 PMID:28785396 PMID:29655203 PMID:29720203 PMID:29961512 PMID:30311386 PMID:30536762 PMID:32214227 PMID:32581362 PMID:32860008, PMID:11214906, PMID:18396005, PMID:11242117, PMID:16183801 |
RGD:1601319, RGD:12790974, RGD:12743654, RGD:1601318 |
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Mir199a2 |
microRNA 199a-2 |
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ISS |
OMIM:312750 | OMIM:613454 |
MouseDO |
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NCBI chr13:80,125,487...80,125,596
Ensembl chr13:80,125,487...80,125,596
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G |
Ptpn1 |
protein tyrosine phosphatase, non-receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214522 |
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NCBI chr 3:164,665,462...164,711,936
Ensembl chr 3:164,665,532...164,711,848
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G |
Rhobtb2 |
Rho-related BTB domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome |
ClinVar |
PMID:18298893 PMID:25741868 PMID:29276004 |
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NCBI chr15:51,465,148...51,485,562
Ensembl chr15:51,465,148...51,485,692
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G |
Setdb1 |
SET domain bifurcated histone lysine methyltransferase 1 |
severity |
ISO |
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RGD |
PMID:20869373 |
RGD:9590158 |
NCBI chr 2:196,495,867...196,527,412
Ensembl chr 2:196,495,867...196,527,127
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16611748 PMID:16813600 PMID:17993579 PMID:18063413 PMID:18414213 PMID:18790821 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19428276 PMID:19455595 PMID:19471977 PMID:19740913 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20493745 PMID:21160487 PMID:21293276 PMID:21318334 PMID:21765152 PMID:21770923 PMID:22430159 PMID:22670143 PMID:22678952 PMID:22867051 PMID:22982301 PMID:23151060 PMID:23238081 PMID:23583054 PMID:25741868 PMID:25819767 PMID:26467025 PMID:27848944 PMID:28492532 |
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NCBI chr X:35,536,396...35,773,204
Ensembl chr X:35,599,258...35,771,711
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:10508514 PMID:10854091 PMID:11035019 PMID:11055898 PMID:11269512 PMID:11283202 PMID:11313756 PMID:11524741 PMID:11738883 PMID:12180070 PMID:15737703 PMID:17089071 PMID:17387578 PMID:19914908 PMID:25927341 PMID:28492532 |
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NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Atypical Rett syndrome |
ClinVar |
PMID:19428276 PMID:28492532 |
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NCBI chr X:35,749,957...35,777,243
Ensembl chr X:35,749,957...35,777,243
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G |
Foxg1 |
forkhead box G1 |
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ISO |
ClinVar Annotator: match by term: Rett syndrome, congenital variant ClinVar Annotator: match by OMIM:613454 |
OMIM ClinVar |
PMID:18414213 PMID:18571142 PMID:19564653 PMID:19578037 PMID:19623215 PMID:19806373 PMID:20734096 PMID:20736978 PMID:21270142 PMID:21280142 PMID:21441262 PMID:21488007 PMID:22091895 PMID:22129046 PMID:22190898 PMID:22258524 PMID:22739344 PMID:22968132 PMID:23757202 PMID:24412290 PMID:24836831 PMID:24901346 PMID:25326635 PMID:25356899 PMID:25741868 PMID:25914188 PMID:26344814 PMID:26467025 PMID:26542077 PMID:26544041 PMID:26938784 PMID:27029630 PMID:28492532 PMID:28554332 PMID:28661489 PMID:28851325 PMID:29389947 PMID:29655203 PMID:29852413 PMID:30525188 PMID:30533527 PMID:32581362 |
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NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by null ClinVar Annotator: match by term: Rett syndrome, zappella variant |
ClinVar |
PMID:1191367 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10814718 PMID:10852707 PMID:10854091 PMID:10991688 PMID:11035019 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11309679 PMID:11313756 PMID:11376998 PMID:11402105 PMID:11462237 PMID:11469283 PMID:11738866 PMID:11738879 PMID:11738885 PMID:11746022 PMID:11913567 PMID:11960578 PMID:12111643 PMID:12180070 PMID:12567420 PMID:12673788 PMID:12707946 PMID:12746406 PMID:12770674 PMID:12843318 PMID:12966523 PMID:14560307 PMID:15057977 PMID:15173251 PMID:15526954 PMID:15737703 PMID:16122633 PMID:16473305 PMID:17089071 PMID:17341617 PMID:17387578 PMID:17986102 PMID:18332345 PMID:18414213 PMID:18562141 PMID:18989701 PMID:19652677 PMID:19722030 PMID:20031356 PMID:20301670 PMID:21160487 PMID:21831886 PMID:21954873 PMID:21982064 PMID:22277191 PMID:22368975 PMID:23260135 PMID:23262346 PMID:23421866 PMID:23810759 PMID:23859859 PMID:25741868 PMID:26175308 PMID:26418480 PMID:26467025 PMID:26647311 PMID:26842955 PMID:27929079 PMID:28394482 PMID:28492532 PMID:29655203 |
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NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Clasp1 |
cytoplasmic linker associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Roifman syndrome |
ClinVar |
PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 PMID:25741868 PMID:26522830 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:32581362 |
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NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:157,073,860...157,095,652
Ensembl chr X:157,072,736...157,095,274
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,873,094...156,888,762
Ensembl chr X:156,873,849...156,888,761
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,407,973...156,415,053
Ensembl chr X:156,407,937...156,415,145
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,889,006...156,892,707
Ensembl chr X:156,889,410...156,891,213
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:157,094,365...157,126,397
Ensembl chr X:157,095,937...157,126,393
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,429,521...156,438,066
Ensembl chr X:156,429,585...156,438,066
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G |
Emd |
emerin |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,452,847...156,455,858
Ensembl chr X:156,452,818...156,456,035
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,319,687...156,328,974
Ensembl chr X:156,319,687...156,328,309
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G |
Fam50a |
family with sequence similarity 50, member A |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,392,646...156,399,763
Ensembl chr X:156,392,630...156,399,760
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,400,734...156,407,396
Ensembl chr X:156,400,736...156,407,404
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,812,012...156,837,227
Ensembl chr X:156,812,064...156,837,227
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,999,803...157,008,735
Ensembl chr X:156,999,826...157,008,733
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,716,469...156,726,367
Ensembl chr X:156,716,604...156,725,977
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations ClinVar Annotator: match by OMIM:300673 |
OMIM ClinVar CTD |
PMID:1057790 PMID:1105898 PMID:1191367 PMID:1241840 PMID:2460487 PMID:5300597 PMID:8177735 PMID:9038338 PMID:9546328 PMID:10232754 PMID:10508514 PMID:10577905 PMID:10745042 PMID:10767337 PMID:10805343 PMID:10814718 PMID:10814719 PMID:10852707 PMID:10854091 PMID:10944834 PMID:10944854 PMID:10986043 PMID:10991688 PMID:10991689 PMID:11007980 PMID:11035019 PMID:11055848 PMID:11055878 PMID:11055898 PMID:11058114 PMID:11071498 PMID:11106359 PMID:11214906 PMID:11238684 PMID:11241840 PMID:11245712 PMID:11269512 PMID:11283201 PMID:11283202 PMID:11309367 PMID:11309679 PMID:11313756 PMID:11313764 PMID:11331619 PMID:11376998 PMID:11392517 PMID:11402105 PMID:11446411 PMID:11453972 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:11913564 PMID:11913567 PMID:11930274 PMID:11960578 PMID:12065946 PMID:12075485 PMID:12081725 PMID:12111643 PMID:12111644 PMID:12161600 PMID:12180070 PMID:12210319 PMID:12325019 PMID:12325033 PMID:12384770 PMID:12418965 PMID:12555243 PMID:12566531 PMID:12567420 PMID:12655490 PMID:12673788 PMID:12707062 PMID:12707946 PMID:12719401 PMID:12746405 PMID:12746406 PMID:12750821 PMID:12770674 PMID:12843318 PMID:12872250 PMID:12872251 PMID:12966523 PMID:14536082 PMID:14560307 PMID:14598336 PMID:14649554 PMID:14729826 PMID:14974082 PMID:14986829 PMID:15034579 PMID:15057977 PMID:15070486 PMID:15173251 PMID:15211631 PMID:15228575 PMID:15287421 PMID:15351775 PMID:15389714 PMID:15492925 PMID:15526954 PMID:15557528 PMID:15578581 PMID:15689435 PMID:15689438 PMID:15712379 PMID:15737703 PMID:15857422 PMID:15866439 PMID:15875198 PMID:16077729 PMID:16077736 PMID:16080119 PMID:16122633 PMID:16155192 PMID:16182490 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:16965328 PMID:17084570 PMID:17088400 PMID:17089071 PMID:17142618 PMID:17172942 PMID:17236109 PMID:17276711 PMID:17341617 PMID:17351020 PMID:17370310 PMID:17383248 PMID:17387578 PMID:17420824 PMID:17427193 PMID:17440498 PMID:17505203 PMID:17712354 PMID:17881312 PMID:17914728 PMID:17968969 PMID:17986102 PMID:18021529 PMID:18174548 PMID:18174559 PMID:18190595 PMID:18332345 PMID:18334558 PMID:18337588 PMID:18414213 PMID:18477000 PMID:18499664 PMID:18562141 PMID:18572337 PMID:18652533 PMID:18678449 PMID:18810657 PMID:18842453 PMID:18989701 PMID:19133691 PMID:19168818 PMID:19189931 PMID:19217433 PMID:19234536 PMID:19309269 PMID:19309283 PMID:19371229 PMID:19442733 PMID:19552836 PMID:19573459 PMID:19652677 PMID:19722030 PMID:19724012 PMID:19914908 PMID:20031356 PMID:20093853 PMID:20098342 PMID:20108430 PMID:20116947 PMID:20142466 PMID:20151026 PMID:20231667 PMID:20301670 PMID:20376788 PMID:20384458 PMID:20479760 PMID:20625242 PMID:20631224 PMID:20661168 PMID:20815036 PMID:21154482 PMID:21160487 PMID:21178819 PMID:21372149 PMID:21420494 PMID:21575601 PMID:21695138 PMID:21764336 PMID:21831886 PMID:21871116 PMID:21878110 PMID:21940684 PMID:21954873 PMID:21982064 PMID:22182064 PMID:22213695 PMID:22277191 PMID:22368975 PMID:22382802 PMID:22476991 PMID:22497713 PMID:22525432 PMID:22561697 PMID:22578097 PMID:22923521 PMID:23220634 PMID:23238081 PMID:23260135 PMID:23262346 PMID:23270700 PMID:23337872 PMID:23421866 PMID:23452848 PMID:23591336 PMID:23696494 PMID:23770565 PMID:23770587 PMID:23810759 PMID:23859859 PMID:23921973 PMID:24033266 PMID:24283265 PMID:24328834 PMID:24399845 PMID:24458799 PMID:24508304 PMID:24511209 PMID:24626160 PMID:24715477 PMID:24743294 PMID:24776741 PMID:24916645 PMID:24970834 PMID:25165434 PMID:25167861 PMID:25283752 PMID:25326635 PMID:25473036 PMID:25541993 PMID:25634563 PMID:25644311 PMID:25741868 PMID:25927341 PMID:26175308 PMID:26254891 PMID:26350204 PMID:26418480 PMID:26467025 PMID:26490184 PMID:26604147 PMID:26647311 PMID:26741492 PMID:26755454 PMID:26842955 PMID:26930212 PMID:26931468 PMID:26936630 PMID:26984561 PMID:27159028 PMID:27255190 PMID:27442528 PMID:27465203 PMID:27799067 PMID:27824329 PMID:27929079 PMID:28250423 PMID:28394482 PMID:28492532 PMID:28544139 PMID:28785396 PMID:29655203 PMID:29720203 PMID:30311386 PMID:30536762 PMID:32214227 PMID:32581362 PMID:32860008 |
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NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,863,655...156,868,950
Ensembl chr X:156,863,754...156,868,950
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,569,683...156,589,907
Ensembl chr X:156,569,683...156,589,907
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G |
Pdzd4 |
PDZ domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,963,343...156,993,591
Ensembl chr X:156,963,870...156,993,591
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G |
Plxna3 |
plexin A3 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,363,400...156,379,433
Ensembl chr X:156,363,405...156,379,189
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G |
Plxnb3 |
plexin B3 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:157,015,297...157,030,147
Ensembl chr X:157,015,305...157,028,434
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,854,490...156,863,548
Ensembl chr X:156,854,594...156,863,528
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,438,251...156,440,461
Ensembl chr X:156,438,251...156,440,461
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,335,385...156,340,256
Ensembl chr X:156,336,450...156,340,234
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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G |
Srpk3 |
SRSF protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:157,008,773...157,014,342
Ensembl chr X:157,008,824...157,013,443
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G |
Ssr4 |
signal sequence receptor subunit 4 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,995,763...156,999,702
Ensembl chr X:156,995,779...156,999,650
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G |
Taz |
tafazzin |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,421,006...156,429,461
Ensembl chr X:156,421,009...156,428,593
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,540,442...156,569,272
Ensembl chr X:156,552,528...156,569,249
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,507,797...156,540,733
Ensembl chr X:156,507,797...156,540,733
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G |
Ubl4a |
ubiquitin-like 4A |
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ISO |
ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations |
ClinVar |
PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532 |
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NCBI chr X:156,340,919...156,343,771
Ensembl chr X:156,340,925...156,343,777
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G |
Shroom4 |
shroom family member 4 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, Stocco dos Santos type ClinVar Annotator: match by term: Stocco dos Santos syndrome ClinVar Annotator: match by OMIM:300434 |
OMIM ClinVar |
PMID:12673656 PMID:16249884 PMID:25741868 PMID:26740508 |
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NCBI chr X:16,723,360...16,929,829
Ensembl chr X:16,719,803...16,929,907
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G |
Dcx |
doublecortin |
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ISO |
DNA:missense mutation, nonsense mutations:exon:p.R186C (556C>T), p.R272X (814C>T), p.R303X (907C>T) (human) |
RGD |
PMID:10369164 |
RGD:12904717 |
NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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G |
Eml1 |
EMAP like 1 |
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ISO |
ClinVar Annotator: match by term: Band heterotopia of brain |
ClinVar OMIM |
PMID:24859200 PMID:28556411 |
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NCBI chr 6:132,367,342...132,450,488
Ensembl chr 6:132,383,337...132,450,393
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G |
Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Subcortical band heterotopia |
ClinVar |
PMID:10441340 PMID:11502906 PMID:14581661 PMID:18414213 PMID:25741868 |
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NCBI chr10:61,456,144...61,577,412
Ensembl chr10:61,456,145...61,577,412
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G |
Dcx |
doublecortin |
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ISO IMP |
DNA:deletions DNA:nonsense mutation: :p.R186C (971C>T) (human) |
RGD |
PMID:19050731, PMID:9618162, PMID:19098909 |
RGD:12904718, RGD:12904762, RGD:12904725 |
NCBI chr X:115,098,675...115,175,515
Ensembl chr X:115,098,675...115,175,299
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G |
Bcor |
BCL6 co-repressor |
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ISO |
DNA:missense mutation:exon:254C>T (p.P85L) (human) ClinVar Annotator: match by term: Lenz microphthalmia syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:25741868 PMID:28492532, PMID:15004558 |
RGD:1600504 |
NCBI chr X:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Lenz microphthalmia syndrome ClinVar Annotator: match by OMIM:309800 |
OMIM ClinVar |
PMID:1679229 PMID:11426460 PMID:16114045 PMID:24431331 PMID:25741868 PMID:30842225 |
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NCBI chr X:156,863,655...156,868,950
Ensembl chr X:156,863,754...156,868,950
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G |
Arx |
aristaless related homeobox |
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ISS |
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MouseDO |
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NCBI chr X:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
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ISO |
ClinVar Annotator: match by term: X-linked mental retardation, syndromic 14 ClinVar Annotator: match by term: Mental retardation, syndromic 14, X-linked |
ClinVar OMIM |
PMID:17704778 PMID:22957832 PMID:25741868 PMID:28492532 |
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NCBI chr X:123,713,327...123,731,431
Ensembl chr X:123,713,339...123,731,385
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G |
Nono |
non-POU domain containing, octamer-binding |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic 34 ClinVar Annotator: match by OMIM:300967 |
ClinVar OMIM |
PMID:25741868 PMID:26571461 PMID:27329731 PMID:27550220 PMID:31883306 PMID:32238909 |
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NCBI chr X:71,324,365...71,342,225
Ensembl chr X:71,324,365...71,342,225
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G |
Ap1s2 |
adaptor related protein complex 1 subunit sigma 2 |
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ISO |
ClinVar Annotator: match by term: Pettigrew syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5 ClinVar Annotator: match by OMIM:304340 |
OMIM ClinVar CTD |
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:23756445 PMID:25741868 |
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NCBI chr X:32,329,883...32,376,301
Ensembl chr X:32,329,598...32,355,307
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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:124,831,391...124,870,329
Ensembl chr X:124,832,628...124,870,329
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G |
Gria3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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ISO |
ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 29 ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, wu type ClinVar Annotator: match by term: Disrupted sleep-wake cycle with developmental delay and learning difficulty ClinVar Annotator: match by OMIM:300699 |
OMIM ClinVar |
PMID:17989220 PMID:24721225 PMID:25326635 PMID:25741868 PMID:25985138 PMID:28492532 PMID:28708303 PMID:29016847 |
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NCBI chr X:127,561,843...127,829,763
Ensembl chr X:127,562,660...127,829,753
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G |
Cul4b |
cullin 4B |
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ISO |
ClinVar Annotator: match by term: Syndromic X-linked mental retardation, Cabezas type ClinVar Annotator: match by term: Mental retardation, X-linked, with short stature ClinVar Annotator: match by OMIM:300354 |
OMIM ClinVar |
PMID:8135271 PMID:10978355 PMID:17236139 PMID:17273978 PMID:18414213 PMID:25385192 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:124,831,391...124,870,329
Ensembl chr X:124,832,628...124,870,329
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: Mental retardation, syndromic, Claes-Jensen type, X-linked ClinVar Annotator: match by OMIM:300534 DNA:snp:cds:c.2T>C (human) |
OMIM ClinVar |
PMID:1605217 PMID:10982473 PMID:15586325 PMID:16538222 PMID:18203167 PMID:18414213 PMID:18697827 PMID:19826449 PMID:21575681 PMID:23356856 PMID:25741868 PMID:28492532 PMID:28708303, PMID:22326837 |
RGD:9587779 |
NCBI chr X:22,302,664...22,349,298
Ensembl chr X:22,302,485...22,348,627
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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:62,363,757...62,376,139
Ensembl chr X:62,363,757...62,376,143
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G |
Atp6ap2 |
ATPase H+ transporting accessory protein 2 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar Annotator: match by OMIM:300423 |
OMIM ClinVar |
PMID:11782983 PMID:15746149 PMID:25741868 PMID:26467025 PMID:26467484 PMID:28492532 PMID:30985297 |
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NCBI chr X:11,137,889...11,164,854
Ensembl chr X:11,136,939...11,164,915
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G |
Bcor |
BCL6 co-repressor |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:11,570,155...11,692,022
Ensembl chr X:11,648,989...11,691,099
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G |
Cask |
calcium/calmodulin dependent serine protein kinase |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:10,400,363...10,414,010
Ensembl chr X:10,400,366...10,413,995
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G |
Gpr34 |
G protein-coupled receptor 34 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:10,022,986...10,043,504
Ensembl chr X:10,023,489...10,031,167
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G |
Gpr82 |
G protein-coupled receptor 82 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:9,992,832...10,001,036
Ensembl chr X:9,998,415...9,999,401
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G |
Med14 |
mediator complex subunit 14 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:10,964,035...11,082,403
Ensembl chr X:10,963,809...11,082,565
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G |
Mpc1l |
mitochondrial pyruvate carrier 1-like |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:11,098,849...11,105,312
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G |
Nyx |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:10,197,547...10,218,583
Ensembl chr X:10,197,547...10,218,583
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G |
RGD1565685 |
similar to RIKEN cDNA 1810030O07 |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:11,082,668...11,105,588
Ensembl chr X:11,084,317...11,105,588
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G |
Usp9x |
ubiquitin specific peptidase 9, X-linked |
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ISO |
ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type |
ClinVar |
PMID:28492532 |
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NCBI chr X:10,510,033...10,660,555
Ensembl chr X:10,510,033...10,630,297
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G |
Abcb7 |
ATP binding cassette subfamily B member 7 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:75,150,511...75,291,950
Ensembl chr X:75,150,608...75,291,938
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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:157,073,860...157,095,652
Ensembl chr X:157,072,736...157,095,274
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G |
Ace2 |
angiotensin I converting enzyme 2 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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G |
Acot9 |
acyl-CoA thioesterase 9 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:43,543,069...43,592,200
Ensembl chr X:43,543,070...43,592,200
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:113,596,247...113,660,024
Ensembl chr X:113,596,239...113,659,944
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G |
Actrt1 |
actin-related protein T1 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:133,227,699...133,229,052
Ensembl chr X:133,227,660...133,229,047
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:36,930,186...37,054,968
Ensembl chr X:36,930,186...37,003,642
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G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:159,286,775...159,437,536
Ensembl chr X:159,427,745...159,437,453
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G |
Aff2 |
AF4/FMR2 family, member 2 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:153,539,951...154,051,022
Ensembl chr X:153,539,668...154,051,181
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
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G |
Akap14 |
A-kinase anchoring protein 14 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:123,773,430...123,788,898
Ensembl chr X:123,773,430...123,788,898
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G |
Akap4 |
A-kinase anchoring protein 4 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:16,296,027...16,306,078
Ensembl chr X:16,296,735...16,306,078
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:23,167,576...23,187,356
Ensembl chr X:23,167,696...23,187,341
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G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
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ISO |
ClinVar Annotator: match by term: MECP2 duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:115,561,329...115,589,792
Ensembl chr X:115,561,332...115,619,505
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