RGD DISEASE ONTOLOGY - ANNOTATIONS |
|
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
|
Term: | X-linked monogenic disease |
|
Accession: | DOID:0050735
|
browse the term
|
Definition: | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO) |
Synonyms: | exact_synonym: | Genetic Diseases, X Chromosome Linked; X-linked disease; X-linked genetic disease; X-linked inheritance |
| primary_id: | MESH:D040181 |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19703807 |
|
NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
|
|
G |
Msl3 |
MSL complex subunit 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30224647 |
|
NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
|
|
|
G |
Sry |
sex determining region Y |
|
ISO |
ClinVar Annotator: match by term: 46,XX sex reversal 1 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr Y:440,551...443,183
|
|
|
G |
Nr0b1 |
nuclear receptor subfamily 0, group B, member 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 2 |
OMIM ClinVar |
PMID:9486644 |
|
NCBI chr X:50,756,886...50,761,014
Ensembl chr X:50,756,886...50,761,011
|
|
|
G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome |
OMIM ClinVar |
PMID:839509 PMID:22784330 PMID:25741868 |
|
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
|
|
|
G |
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: X-linked cerebral adrenoleukodystrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
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:8535452 PMID:8566952 PMID:8621506 PMID:8651290 PMID:8773611 PMID:8888042 PMID:8892025 PMID:9051655 PMID:9088111 PMID:9195223 PMID:9212180 PMID:9242200 PMID:9425230 PMID:9452087 PMID:9536098 PMID:9553942 PMID:9556301 PMID:9846054 PMID:9894883 PMID:10190819 PMID:10227685 PMID:10480364 PMID:10551832 PMID:10737980 PMID:10815658 PMID:10980309 PMID:10980539 PMID:11063720 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:12402273 PMID:12530690 PMID:12624723 PMID:12913200 PMID:14586615 PMID:14713218 PMID:14767898 PMID:15032602 PMID:15284851 PMID:15388659 PMID:15564782 PMID:15643618 PMID:15800013 PMID:15811009 PMID:15812458 PMID:15878823 PMID:16018167 PMID:16023551 PMID:16087056 PMID:16199547 PMID:16319717 PMID:16401743 PMID:16415970 PMID:16672758 PMID:16949688 PMID:16996397 PMID:17029209 PMID:17202797 PMID:17285533 PMID:17504626 PMID:17542813 PMID:17576681 PMID:17602313 PMID:17990484 PMID:18306728 PMID:18973459 PMID:19129531 PMID:19234479 PMID:19325113 PMID:19496984 PMID:19892975 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:22045812 PMID:22057157 PMID:22189598 PMID:22198747 PMID:22280810 PMID:22366764 PMID:22479560 PMID:22483867 PMID:22914231 PMID:23154058 PMID:23300730 PMID:23419472 PMID:23430809 PMID:23566833 PMID:23566848 PMID:23651979 PMID:23664929 PMID:23671276 PMID:23712774 PMID:23768953 PMID:23835273 PMID:23864971 PMID:24154795 PMID:24480483 PMID:24685009 PMID:24719134 PMID:24722136 PMID:24788897 PMID:25118695 PMID:25275259 PMID:25741868 PMID:25999754 PMID:26227820 PMID:26260157 PMID:26266984 PMID:26388597 PMID:26454440 PMID:26467025 PMID:26523528 PMID:26607867 PMID:26609365 PMID:27067449 PMID:27489563 PMID:27766264 PMID:27928321 PMID:27934597 PMID:28086082 PMID:28089346 PMID:28216041 PMID:28456143 PMID:28481932 PMID:28492532 PMID:28503596 PMID:28708278 PMID:28953922 PMID:28991658 PMID:29056270 PMID:29284317 PMID:29443243 PMID:29557549 PMID:30069915 PMID:31074578 PMID:31104286 PMID:31227335 PMID:31316545 PMID:31777199 PMID:32003821 PMID:32047678 PMID:32207279 PMID:32954314 PMID:33247909 PMID:33920672 PMID:34008892 PMID:34302356 PMID:34946879 PMID:35196747 PMID:35535697 PMID:8048932 More...
|
RGD:1598655 |
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
|
|
G |
Acsbg1 |
acyl-CoA synthetase bubblegum family member 1 |
|
ISO |
|
RGD |
PMID:15800013 |
RGD:11065111 |
NCBI chr 8:54,991,294...55,047,276
Ensembl chr 8:54,991,296...55,047,391
|
|
G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
|
|
G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
|
|
G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
|
|
G |
Ctag2 |
cancer/testis antigen 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
|
|
G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
|
|
G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
|
|
G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
|
|
G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
|
|
G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
|
|
G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
|
|
G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
|
|
G |
Gdi1 |
GDP dissociation inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
|
|
G |
Hcfc1 |
host cell factor C1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
|
|
G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
|
|
G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
|
|
G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
|
|
G |
Lage3 |
L antigen family, member 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
|
|
G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
|
|
G |
Mmp10 |
matrix metallopeptidase 10 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
|
|
G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
|
|
G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,905,096...151,925,322
Ensembl chr X:151,905,096...151,925,388
|
|
G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
|
|
G |
Pex13 |
peroxisomal biogenesis factor 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10441568 |
|
NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262
|
|
G |
Pex26 |
peroxisomal biogenesis factor 26 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12851857 |
|
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
|
|
G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
|
|
G |
Renbp |
renin binding protein |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
|
|
G |
Rpl10 |
ribosomal protein L10 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,054,547...152,056,757
Ensembl chr X:152,054,452...152,056,761
|
|
G |
Slc10a3 |
solute carrier family 10, member 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16319717 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
|
|
G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
|
|
G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
|
|
G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:23185624 |
RGD:13204814 |
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
|
|
G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
|
|
G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Adrenoleukodystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
|
|
|
G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:30718709 |
|
NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II DNA:deletion:exon: |
OMIM ClinVar RGD |
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:30718709 PMID:30825406 PMID:17525176 More...
|
RGD:13782379 |
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Ocular albinism, type II |
ClinVar |
PMID:28492532 PMID:30718709 |
|
NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
|
|
|
G |
Slc16a2 |
solute carrier family 16 member 2 |
|
ISO |
ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: Mental retardation and muscular atrophy |
OMIM ClinVar |
PMID:1605231 PMID:8484404 PMID:12871948 PMID:14661163 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16417886 PMID:17356046 PMID:18187543 PMID:18398436 PMID:18414213 PMID:18636565 PMID:20083155 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25167861 PMID:25517855 PMID:25527620 PMID:25741868 PMID:27081503 PMID:27212794 PMID:27805744 PMID:28492532 PMID:31690835 PMID:32277047 PMID:32559475 PMID:33847015 More...
|
|
NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
|
|
|
G |
Atr |
ATR serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: ATR-X-related syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
|
|
G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome 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 RGD |
PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 PMID:7697714 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9536098 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10632111 PMID:10660327 PMID:10995512 PMID:11050622 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16813605 PMID:16935875 PMID:16955409 PMID:17576681 PMID:17579672 PMID:18409179 PMID:18414213 PMID:19291773 PMID:20500465 PMID:20655035 PMID:21421568 PMID:21505078 PMID:22129561 PMID:22659343 PMID:22796527 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24759409 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25640679 PMID:25644381 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26539891 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29158550 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284 PMID:32595695 PMID:24289169 PMID:24327140 PMID:24805811 More...
|
RGD:9586030, RGD:9586029, RGD:9586027 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
|
|
G |
Gba |
glucosylceramidase beta |
|
ISO |
ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
|
|
|
G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome |
OMIM ClinVar |
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 More...
|
|
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
|
|
|
G |
Amelx |
amelogenin, X-linked |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
OMIM ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
|
|
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
|
|
G |
Arhgap6 |
Rho GTPase activating protein 6 |
|
ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth |
ClinVar |
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 PMID:5225441 PMID:7599636 PMID:8406474 PMID:9188994 PMID:10669095 PMID:11201048 PMID:11839357 PMID:11922868 PMID:15111628 PMID:23251683 More...
|
|
NCBI chr X:24,953,464...25,490,003
Ensembl chr X:24,953,464...25,488,663
|
|
|
G |
Col4a6 |
collagen type IV alpha 6 chain |
|
ISO |
|
OMIM |
|
|
NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
|
|
|
G |
Ar |
androgen receptor |
|
ISO IEP |
ClinVar Annotator: match by term: Androgen resistance syndrome DNA:missense mutation:exon:p.M749V (human) DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human) DNA:missense mutation:exon:p.R615S (human) DNA:point mutation, repeats:exon DNA:deletion protein:altered localization:spinal cord, motor neuron, cytoplasm CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:1303262 PMID:1307250 PMID:1430233 PMID:1480178 PMID:1569163 PMID:1598912 PMID:1609793 PMID:1720929 PMID:1750490 PMID:1775137 PMID:2082179 PMID:2293020 PMID:2332504 PMID:2339702 PMID:2594783 PMID:3174628 PMID:3186717 PMID:3216866 PMID:4061484 PMID:7537149 PMID:7581399 PMID:7626493 PMID:7633398 PMID:7723794 PMID:7910529 PMID:7970939 PMID:7981687 PMID:8033918 PMID:8040309 PMID:8096390 PMID:8097257 PMID:8126121 PMID:8281139 PMID:8325932 PMID:8450040 PMID:8450042 PMID:8626869 PMID:8723113 PMID:8809734 PMID:8824883 PMID:8990010 PMID:9007482 PMID:9332480 PMID:9360511 PMID:9463997 PMID:9536098 PMID:9543136 PMID:9544375 PMID:9627582 PMID:9768671 PMID:9788719 PMID:9851768 PMID:10323251 PMID:10323385 PMID:10359561 PMID:10425033 PMID:10458483 PMID:10690872 PMID:10834333 PMID:10840043 PMID:11397856 PMID:11549642 PMID:11579211 PMID:11744994 PMID:11788645 PMID:11788673 PMID:11889162 PMID:12213902 PMID:12466388 PMID:12705360 PMID:14701682 PMID:14974091 PMID:15109605 PMID:15925895 PMID:16083860 PMID:16199547 PMID:17161333 PMID:17576681 PMID:17937062 PMID:18406699 PMID:19463997 PMID:20011049 PMID:20150575 PMID:20305676 PMID:20671138 PMID:21710452 PMID:22334387 PMID:22412043 PMID:22995991 PMID:24033266 PMID:24321103 PMID:24737579 PMID:25326637 PMID:25613104 PMID:25741868 PMID:26303084 PMID:26688387 PMID:26778393 PMID:27051040 PMID:27403927 PMID:27583472 PMID:27849622 PMID:27854360 PMID:27899157 PMID:28261839 PMID:28456808 PMID:28492532 PMID:28624954 PMID:28857053 PMID:28947719 PMID:29051026 PMID:29785970 PMID:30064134 PMID:30165367 PMID:30401990 PMID:30599484 PMID:30668521 PMID:30815925 PMID:31012339 PMID:31373714 PMID:31499074 PMID:33514065 PMID:33819955 PMID:34276780 PMID:1487249 PMID:8325950 PMID:1424203 PMID:20888558 PMID:7970939 PMID:3186717 PMID:7643075 More...
|
RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 |
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
|
|
G |
Fkbp4 |
FKBP prolyl isomerase 4 |
|
ISS |
OMIM:300068 |
MouseDO |
|
|
NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
|
|
G |
Kat7 |
lysine acetyltransferase 7 |
|
ISO |
protein:decreased expression:testes (human) |
RGD |
PMID:23707616 |
RGD:9681005 |
NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
|
|
|
G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
|
|
G |
Krit1 |
KRIT1, ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
|
|
|
G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Armfield syndrome |
OMIM ClinVar |
PMID:10398235 PMID:25741868 PMID:32703943 |
|
NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
|
|
|
G |
Pitx2 |
paired-like homeodomain 2 |
|
ISO |
DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) |
RGD |
PMID:17701896 |
RGD:12910562 |
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
|
|
G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision |
OMIM ClinVar |
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 More...
|
|
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
|
|
|
G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
|
|
G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific |
ClinVar |
PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9536098 PMID:9628581 PMID:12210308 PMID:15197169 PMID:15669143 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19052029 PMID:20473311 PMID:21686261 PMID:23020937 PMID:23674175 PMID:23683030 PMID:23934111 PMID:24306141 PMID:24759409 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26733290 PMID:26793055 PMID:26795593 PMID:27009485 PMID:27369185 PMID:27665735 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 PMID:29026562 PMID:29302074 PMID:29322350 PMID:30206421 PMID:30666632 PMID:30842726 PMID:31415821 PMID:33624935 PMID:34906502 More...
|
|
NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
|
|
G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
|
ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
|
|
G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome |
ClinVar |
PMID:19052029 PMID:23683030 PMID:28492532 |
|
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
|
|
|
G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED |
ClinVar OMIM |
PMID:31874111 PMID:35289316 |
|
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
|
|
|
G |
Elf4 |
E74 like ETS transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 |
ClinVar OMIM |
PMID:34326534 PMID:35266071 |
|
NCBI chr X:127,587,401...127,639,063
Ensembl chr X:127,590,650...127,630,200
|
|
|
G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Mild hemophilia A |
ClinVar |
PMID:29357978 |
|
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
|
|
|
G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation |
ClinVar |
PMID:25741868 PMID:27476656 |
|
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
|
|
G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation |
OMIM ClinVar |
PMID:754013 PMID:1283148 PMID:1283149 PMID:1284466 PMID:1284477 PMID:1284534 PMID:1284538 PMID:1284540 PMID:1284639 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1373935 PMID:1376016 PMID:1377276 PMID:1379210 PMID:1379413 PMID:1380673 PMID:1380689 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1715308 PMID:1721624 PMID:1723032 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1903761 PMID:1937486 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:3716676 PMID:5371902 PMID:7472820 PMID:7475569 PMID:7493947 PMID:7504969 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7506605 PMID:7508414 PMID:7509310 PMID:7509683 PMID:7509684 PMID:7512860 PMID:7512993 PMID:7513293 PMID:7513889 PMID:7515303 PMID:7516234 PMID:7517264 PMID:7517267 PMID:7517268 PMID:7518829 PMID:7520798 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7526928 PMID:7529319 PMID:7529962 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7539080 PMID:7539342 PMID:7540133 PMID:7541274 PMID:7541510 PMID:7542778 PMID:7543317 PMID:7544319 PMID:7544320 PMID:7544788 PMID:7545856 PMID:7545869 PMID:7550227 PMID:7550243 PMID:7551394 PMID:7560099 PMID:7573058 PMID:7581407 PMID:7586569 PMID:7599637 PMID:7668304 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7682196 PMID:7683628 PMID:7683952 PMID:7684641 PMID:7684644 PMID:7684646 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7691344 PMID:7691345 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7739684 PMID:7789957 PMID:7868128 PMID:8092189 PMID:8100293 PMID:8163293 PMID:8343799 PMID:8406518 PMID:8421472 PMID:8477260 PMID:8522333 PMID:8528204 PMID:8530001 PMID:8533846 PMID:8535440 PMID:8556303 PMID:8605891 PMID:8644755 PMID:8659542 PMID:8662892 PMID:8663008 PMID:8680406 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8723695 PMID:8740923 PMID:8741733 PMID:8825494 PMID:8825927 PMID:8829643 PMID:8834261 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8880589 PMID:8886242 PMID:8889582 PMID:8910333 PMID:8947061 PMID:8956039 PMID:9003498 PMID:9003508 PMID:9039981 PMID:9043501 PMID:9056552 PMID:9067754 PMID:9067761 PMID:9084934 PMID:9101293 PMID:9135274 PMID:9150159 PMID:9164051 PMID:9235853 PMID:9239681 PMID:9254853 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9305991 PMID:9321772 PMID:9374552 PMID:9375855 PMID:9383031 PMID:9401110 PMID:9435322 PMID:9439669 PMID:9452048 PMID:9482579 PMID:9493456 PMID:9499426 PMID:9507391 PMID:9512029 PMID:9521595 PMID:9536098 PMID:9550361 PMID:9550362 PMID:9557894 PMID:9598638 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9683582 PMID:9719631 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9799593 PMID:9804160 PMID:9806422 PMID:9822639 PMID:9915972 PMID:9920885 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10077727 PMID:10094564 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10225950 PMID:10341008 PMID:10351951 PMID:10362539 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10425036 PMID:10439967 PMID:10445602 PMID:10453741 PMID:10480369 PMID:10556281 PMID:10562297 PMID:10571949 PMID:10571955 PMID:10601093 PMID:10636451 PMID:10639207 PMID:10652351 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10671057 PMID:10719683 PMID:10746558 PMID:10755189 PMID:10762539 PMID:10764788 PMID:10777364 PMID:10782933 PMID:10790220 PMID:10790222 PMID:10794365 PMID:10798368 PMID:10801389 PMID:10819640 PMID:10834512 PMID:10836331 PMID:10875853 PMID:10875876 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10963013 PMID:10970190 PMID:10993719 PMID:11005149 PMID:11038458 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11118444 PMID:11137998 PMID:11158459 PMID:11168024 PMID:11180668 PMID:11186891 PMID:11242048 PMID:11278813 PMID:11280952 PMID:11303517 PMID:11336401 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11427889 PMID:11446424 PMID:11448786 PMID:11466205 PMID:11484207 PMID:11491162 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11597353 PMID:11668613 PMID:11729110 PMID:11732487 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11788090 PMID:11788611 PMID:11796434 PMID:11810271 PMID:11883825 PMID:11888281 PMID:11924117 PMID:11933191 PMID:11938353 PMID:11938439 PMID:12000363 PMID:12007216 PMID:12070257 PMID:12070264 PMID:12080183 PMID:12120234 PMID:12124706 PMID:12127423 PMID:12133923 PMID:12167682 PMID:12172395 PMID:12200467 PMID:12357328 PMID:12394343 PMID:12397022 PMID:12400067 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12651858 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12815607 PMID:12825076 PMID:12843327 PMID:12843337 PMID:12865275 PMID:12874665 PMID:12900515 PMID:12919146 PMID:12938099 PMID:12940920 PMID:12955726 PMID:14526128 PMID:14618962 PMID:14623323 PMID:14685259 PMID:14685937 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15017334 PMID:15024729 PMID:15025720 PMID:15040442 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15181619 PMID:15246977 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357566 PMID:15365999 PMID:15367919 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15371908 PMID:15463888 PMID:15463898 PMID:15463907 PMID:15480987 PMID:15482777 PMID:15486385 PMID:15504721 PMID:15509635 PMID:15520400 PMID:15536480 PMID:15537723 PMID:15614862 PMID:15638824 PMID:15640323 PMID:15666307 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15738290 PMID:15744523 PMID:15758663 PMID:15775704 PMID:15775760 PMID:15776432 PMID:15784035 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15948195 PMID:15952991 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16049310 PMID:16051530 PMID:16075239 PMID:16126774 PMID:16128988 PMID:16132229 PMID:16137181 PMID:16189704 PMID:16196493 PMID:16199547 PMID:16202790 PMID:16240056 PMID:16251901 PMID:16263954 PMID:16266832 PMID:16272798 PMID:16275171 PMID:16283068 PMID:16283887 PMID:16339147 PMID:16417523 PMID:16429425 PMID:16436643 PMID:16436646 PMID:16442101 PMID:16443646 PMID:16478680 PMID:16488363 PMID:16499810 PMID:16596947 PMID:16617247 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16801189 PMID:16840743 PMID:16931591 PMID:16963320 PMID:16980811 PMID:17003641 PMID:17015492 PMID:17035430 PMID:17048214 PMID:17076271 PMID:17098482 PMID:17098864 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17272608 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17353351 PMID:17380060 PMID:17407485 PMID:17407489 PMID:17413420 PMID:17440499 PMID:17449517 PMID:17475917 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17507277 PMID:17516627 PMID:17560176 PMID:17572159 PMID:17576681 PMID:17594398 PMID:17617039 PMID:17662673 PMID:17663888 PMID:17692578 PMID:17719933 PMID:17890437 PMID:17949679 PMID:17968991 PMID:17975025 PMID:18078365 PMID:18178635 PMID:18180206 PMID:18230692 PMID:18234567 PMID:18279436 PMID:18301294 PMID:18306312 PMID:18373402 PMID:18394117 PMID:18421494 PMID:18449561 PMID:18456578 PMID:18467194 PMID:18493878 PMID:18500736 PMID:18507830 PMID:18556774 PMID:18567645 PMID:18597042 PMID:18639722 PMID:18685558 PMID:18687795 PMID:18703181 PMID:18716917 PMID:18778819 PMID:18782298 PMID:18796364 PMID:18951463 PMID:19014055 PMID:19014821 PMID:19092437 PMID:19166122 PMID:19176844 PMID:19181743 PMID:19181854 PMID:19202204 PMID:19212293 PMID:19227414 PMID:19265749 PMID:19318035 PMID:19318346 PMID:19324992 PMID:19359498 PMID:19372188 PMID:19406970 PMID:19447078 PMID:19459534 PMID:19491324 PMID:19540513 PMID:19550280 PMID:19625452 PMID:19652440 PMID:19707853 PMID:19710401 PMID:19715466 PMID:19724303 PMID:19734299 PMID:19810821 PMID:19812525 PMID:19823873 PMID:19833837 PMID:19837664 PMID:19843100 PMID:19845690 PMID:19846789 PMID:19878303 PMID:19880712 PMID:19885835 PMID:19897426 PMID:19910374 PMID:19914431 PMID:19914443 PMID:19925455 PMID:20021716 PMID:20059485 PMID:20100616 PMID:20116881 PMID:20163773 PMID:20167849 PMID:20186691 PMID:20233062 PMID:20301295 PMID:20301428 PMID:20381036 PMID:20416310 PMID:20435887 PMID:20448091 PMID:20460946 PMID:20510657 PMID:20522854 PMID:20538955 PMID:20551465 PMID:20580320 PMID:20595578 PMID:20619026 PMID:20628052 PMID:20651897 PMID:20659818 PMID:20667826 PMID:20687163 PMID:20691141 PMID:20696241 PMID:20705837 PMID:20706124 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20849526 PMID:20865572 PMID:20880762 PMID:20923678 PMID:20932301 PMID:20932506 PMID:20949073 PMID:20976528 PMID:20977904 PMID:21068670 PMID:21083385 PMID:21097845 PMID:21111762 PMID:21131649 PMID:21152102 PMID:21184098 PMID:21228398 PMID:21354377 PMID:21411740 PMID:21416780 PMID:21429822 PMID:21474639 PMID:21483833 PMID:21486785 PMID:21507732 PMID:21514289 PMID:21520337 PMID:21538969 PMID:21594800 PMID:21636331 PMID:21642448 PMID:21658649 PMID:21679131 PMID:21716075 PMID:21779199 PMID:21783433 PMID:21796730 PMID:21811577 PMID:21858268 PMID:21907281 PMID:21909392 PMID:21931512 PMID:21965669 PMID:21976147 PMID:21983488 PMID:21996038 PMID:21998193 PMID:22020151 PMID:22043142 PMID:22047557 PMID:22094894 PMID:22103471 PMID:22138447 PMID:22148899 PMID:22156145 PMID:22293084 PMID:22299590 PMID:22310382 PMID:22318583 PMID:22326559 PMID:22332135 PMID:22366207 PMID:22369017 PMID:22390181 PMID:22395041 PMID:22423042 PMID:22427236 PMID:22442927 PMID:22449949 PMID:22468138 PMID:22483971 PMID:22504961 PMID:22545782 PMID:22569626 PMID:22572128 PMID:22573477 PMID:22591852 PMID:22627569 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22680785 PMID:22698459 PMID:22724884 PMID:22768251 PMID:22842702 PMID:22892530 PMID:22942289 PMID:22973227 PMID:22975760 PMID:22981120 PMID:22992668 PMID:22995991 PMID:22999299 PMID:23017188 PMID:23027855 PMID:23065710 PMID:23067305 PMID:23076339 PMID:23082198 PMID:23104983 PMID:23168765 PMID:23206872 PMID:23261175 PMID:23276700 PMID:23286748 PMID:23302613 PMID:23313410 PMID:23361109 PMID:23378603 PMID:23379606 PMID:23381846 PMID:23405520 PMID:23420618 PMID:23436935 PMID:23466340 PMID:23503723 PMID:23514810 PMID:23523379 PMID:23590265 PMID:23613805 PMID:23628510 PMID:23656801 PMID:23666117 PMID:23670503 PMID:23687349 PMID:23688510 PMID:23709221 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23765052 PMID:23775370 PMID:23781395 PMID:23810505 PMID:23820649 PMID:23837941 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23907436 PMID:23924900 PMID:23933162 PMID:23951356 PMID:23974870 PMID:24019231 PMID:24033266 PMID:24066763 PMID:24081349 PMID:24082139 PMID:24129438 PMID:24204751 PMID:24225052 PMID:24243928 PMID:24269240 PMID:24375076 PMID:24388274 PMID:24412276 PMID:24418186 PMID:24433235 PMID:24435787 PMID:24440181 PMID:24440239 PMID:24451227 PMID:24461666 PMID:24525081 PMID:24559724 PMID:24586523 PMID:24631642 PMID:24633926 PMID:24696795 PMID:24697796 PMID:24727426 PMID:24762087 PMID:24784896 PMID:24813944 PMID:24816901 PMID:24958810 PMID:24973281 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25077647 PMID:25087612 PMID:25122143 PMID:25133958 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25192979 PMID:25203624 PMID:25251442 PMID:25266159 PMID:25274949 PMID:25287046 PMID:25304080 PMID:25311995 PMID:25326635 PMID:25330774 PMID:25333069 PMID:25363320 PMID:25383785 PMID:25443471 PMID:25452595 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25525159 PMID:25580864 PMID:25583415 PMID:25608981 PMID:25636364 PMID:25651269 PMID:25682022 PMID:25688174 PMID:25697318 PMID:25697321 PMID:25698453 PMID:25704068 PMID:25732475 PMID:25735457 PMID:25741868 PMID:25741869 PMID:25755212 PMID:25763566 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25900089 PMID:25905921 PMID:25910067 PMID:25940043 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26006199 PMID:26014425 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26095523 PMID:26098992 PMID:26135562 PMID:26146130 PMID:26149808 PMID:26160248 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26324139 PMID:26364555 PMID:26429520 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26493493 PMID:26494713 PMID:26500004 PMID:26526220 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26651825 PMID:26708955 PMID:26755536 PMID:26795017 PMID:26800689 PMID:26823392 PMID:26826884 PMID:26846474 PMID:26847993 PMID:26900683 PMID:26911355 PMID:26946416 PMID:26948992 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27081564 PMID:27086061 PMID:27145507 PMID:27158673 PMID:27171515 PMID:27174726 PMID:27209008 PMID:27214204 PMID:27222777 PMID:27264265 PMID:27298017 PMID:27334259 PMID:27347467 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27577878 PMID:27625827 PMID:27659740 PMID:27660821 PMID:27665964 PMID:27673710 PMID:27707539 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27870577 PMID:27895116 PMID:27898234 PMID:27917292 PMID:28040058 PMID:28129809 PMID:28152038 PMID:28163942 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28261631 PMID:28325531 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28465863 PMID:28492530 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28617084 PMID:28646244 PMID:28651844 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28947035 PMID:28968805 PMID:29099333 PMID:29099344 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29173301 PMID:29178639 PMID:29216686 PMID:29261177 PMID:29279204 PMID:29292091 PMID:29298718 PMID:29327948 PMID:29360847 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29497617 PMID:29503250 PMID:29504914 PMID:29520692 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29669919 PMID:29685811 PMID:29750258 PMID:29754320 PMID:29779145 PMID:29805046 PMID:29807875 PMID:29944384 PMID:29997923 PMID:30019023 PMID:30030066 PMID:30046002 PMID:30081288 PMID:30089726 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30244528 PMID:30279124 PMID:30348612 PMID:30420730 PMID:30444886 PMID:30487145 PMID:30488522 PMID:30540547 PMID:30548586 PMID:30561903 PMID:30600599 PMID:30602999 PMID:30606298 PMID:30609409 PMID:30698611 PMID:30726326 PMID:30758641 PMID:30763667 PMID:30845638 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30992994 PMID:30993151 PMID:30996306 PMID:31005549 PMID:31016917 PMID:31019283 PMID:31028937 PMID:31029283 PMID:31036917 PMID:31118044 PMID:31126253 PMID:31130284 PMID:31180159 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31268981 PMID:31310009 PMID:31328366 PMID:31331863 PMID:31350925 PMID:31447099 PMID:31450232 PMID:31508243 PMID:31523618 PMID:31589614 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31759907 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31845523 PMID:31883651 PMID:31916691 PMID:31978131 PMID:31980526 PMID:31990467 PMID:32003480 PMID:32113160 PMID:32126153 PMID:32150665 PMID:32172930 PMID:32204475 PMID:32281737 PMID:32357917 PMID:32414100 PMID:32429104 PMID:32484936 PMID:32512765 PMID:32539862 PMID:32662942 PMID:32687833 PMID:32761997 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32934006 PMID:32935393 PMID:33020115 PMID:33083013 PMID:33097431 PMID:33118704 PMID:33144682 PMID:33195651 PMID:33260873 PMID:33270637 PMID:33341408 PMID:33365035 PMID:33374015 PMID:33375403 PMID:33393655 PMID:33424627 PMID:33468668 PMID:33572515 PMID:33613790 PMID:33686728 PMID:33713579 PMID:33836782 PMID:33922413 PMID:33946859 PMID:33972190 PMID:34134972 PMID:34145097 PMID:34196078 PMID:34405919 PMID:34426522 PMID:34525262 PMID:34583889 PMID:34888852 PMID:34974990 PMID:34996830 PMID:35109852 PMID:35418593 PMID:35527187 PMID:35585144 PMID:35626323 PMID:35698092 PMID:63921865 PMID:238191399 More...
|
|
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
|
|
|
G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria |
ClinVar |
PMID:1719174 PMID:9345098 PMID:9536098 PMID:11238270 PMID:15793838 PMID:16199547 PMID:16427346 PMID:17576681 PMID:19396829 PMID:22382802 PMID:22410210 PMID:23409742 PMID:24033266 PMID:25652404 PMID:25741868 PMID:26845103 PMID:28492532 PMID:31333075 PMID:31568572 More...
|
|
NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
|
|
G |
Fkbp1a |
FKBP prolyl isomerase 1A |
|
ISS |
OMIM:302060 |
MouseDO |
|
|
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
|
|
G |
Mest |
mesoderm specific transcript |
|
ISS |
OMIM:302060 |
MouseDO |
|
|
NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
|
|
G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 PMID:7616547 PMID:8042670 PMID:8434619 PMID:8630491 PMID:9332651 PMID:9345098 PMID:9382096 PMID:9382097 PMID:9536098 PMID:10484795 PMID:11238270 PMID:11735032 PMID:12032589 PMID:12468278 PMID:12930833 PMID:14654353 PMID:15098233 PMID:15793838 PMID:16199547 PMID:16427346 PMID:16548007 PMID:16873891 PMID:16880272 PMID:17394203 PMID:17576681 PMID:18430085 PMID:19396829 PMID:19438153 PMID:19619503 PMID:19648820 PMID:19700766 PMID:20530761 PMID:20812380 PMID:21300850 PMID:22382802 PMID:22410210 PMID:23031367 PMID:23206890 PMID:23361305 PMID:23409742 PMID:23656970 PMID:24033266 PMID:24342716 PMID:24813252 PMID:24887148 PMID:25185984 PMID:25652404 PMID:25741868 PMID:25941633 PMID:26350513 PMID:26724946 PMID:26845103 PMID:28123175 PMID:28183324 PMID:28492532 PMID:29077208 PMID:29089047 PMID:29247119 PMID:30471092 PMID:31333075 PMID:31568572 PMID:32619718 PMID:33500567 PMID:34906502 More...
|
|
NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
|
|
|
G |
Msl3 |
MSL complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Basilicata-Akhtar syndrome |
OMIM ClinVar |
PMID:25741868 PMID:30224647 PMID:33173220 |
|
NCBI chr X:25,638,029...25,655,698
Ensembl chr X:25,637,804...25,655,697
|
|
|
G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type | ClinVar Annotator: match by term: Cone dystrophy 5, X-linked |
OMIM ClinVar |
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 PMID:19421413 PMID:20579627 More...
|
|
NCBI chr X:151,905,096...151,925,322
Ensembl chr X:151,905,096...151,925,388
|
|
|
G |
Phf6 |
PHD finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome |
OMIM ClinVar |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24092917 PMID:24728327 PMID:25741868 PMID:25741869 PMID:27633282 PMID:28492532 More...
|
|
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
|
|
|
G |
Maoa |
monoamine oxidase A |
|
ISO |
ClinVar Annotator: match by term: Brunner syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17576681 PMID:24169519 PMID:25741868 PMID:25807999 PMID:28492532 More...
|
|
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
|
|
|
G |
Nhs |
NHS actin remodeling regulator |
|
ISO |
ClinVar Annotator: match by term: Cataract 40 |
OMIM ClinVar |
PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 |
|
NCBI chr X:32,551,974...32,892,961
Ensembl chr X:32,552,026...32,889,992
|
|
|
G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
|
|
G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
|
|
G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
|
|
G |
Cd40lg |
CD40 ligand |
disease_progression |
ISO |
ClinVar Annotator: match by term: Hyper IgM immunodeficiency, X-linked | ClinVar Annotator: match by term: IMMUNODEFICIENCY 3 | ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human) |
ClinVar RGD CTD OMIM |
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7717401 PMID:7907793 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:9150729 PMID:9536098 PMID:9605317 PMID:9746782 PMID:10651941 PMID:14641931 PMID:15319456 PMID:15358621 PMID:15611226 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:17576681 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20652909 PMID:21465648 PMID:21543760 PMID:21841160 PMID:22193914 PMID:22750225 PMID:23622016 PMID:24123890 PMID:24402618 PMID:24929972 PMID:25741868 PMID:27189378 PMID:27484504 PMID:28492532 PMID:29077208 PMID:29525420 PMID:35572607 PMID:36478253 PMID:21841160 PMID:17553565 PMID:15358621 PMID:16508335 More...
|
RGD:5490298, RGD:5490298, RGD:11039457, RGD:8547781, RGD:8547779 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
|
|
G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
|
|
G |
Gpr101 |
G protein-coupled receptor 101 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
|
|
G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
|
|
G |
Map7d3 |
MAP7 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
|
|
G |
Rbmx |
RNA binding motif protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
|
|
G |
Slc9a6 |
solute carrier family 9 member A6 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
|
|
G |
Vgll1 |
vestigial-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,979,657...134,996,007
|
|
G |
Zic3 |
Zic family member 3 |
|
ISO |
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:136,123,662...136,134,295
Ensembl chr X:136,124,026...136,134,746
|
|
|
G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked |
ClinVar |
PMID:23176820 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29389947 |
|
NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
|
|
|
G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 |
ClinVar |
PMID:22522442 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 |
|
NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
|
|
G |
Gjb1 |
gap junction protein, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 | ClinVar Annotator: match by term: X-linked Charcot-Marie-Tooth disease type 1 |
OMIM ClinVar |
PMID:427531 PMID:1211842 PMID:7477983 PMID:7580242 PMID:7946361 PMID:8004109 PMID:8162049 PMID:8266101 PMID:8304339 PMID:8698335 PMID:8733054 PMID:8737658 PMID:8757034 PMID:8800924 PMID:8816997 PMID:8829637 PMID:8889588 PMID:8990008 PMID:9018031 PMID:9099841 PMID:9187667 PMID:9272161 PMID:9328258 PMID:9354338 PMID:9361298 PMID:9364054 PMID:9401007 PMID:9452099 PMID:9592087 PMID:9600589 PMID:9633821 PMID:9818870 PMID:9854984 PMID:9888385 PMID:10071100 PMID:10093067 PMID:10102421 PMID:10207904 PMID:10220155 PMID:10487913 PMID:10521546 PMID:10586261 PMID:10586279 PMID:10639608 PMID:10732813 PMID:10737979 PMID:10848620 PMID:10873293 PMID:10923043 PMID:10931843 PMID:11140841 PMID:11271367 PMID:11325342 PMID:11393532 PMID:11404117 PMID:11437164 PMID:11438991 PMID:11571214 PMID:11723288 PMID:11734543 PMID:11835375 PMID:11891346 PMID:12111842 PMID:12207932 PMID:12297581 PMID:12362307 PMID:12402337 PMID:12460545 PMID:12477701 PMID:12497641 PMID:12499506 PMID:12542510 PMID:12707076 PMID:14627639 PMID:14663027 PMID:14960772 PMID:15006706 PMID:15241803 PMID:15468313 PMID:15470753 PMID:15719046 PMID:15852376 PMID:15947997 PMID:16079393 PMID:16301507 PMID:16442804 PMID:16476939 PMID:16688595 PMID:16922730 PMID:17100997 PMID:17353473 PMID:17620124 PMID:18254389 PMID:18379723 PMID:18380028 PMID:18714809 PMID:18717720 PMID:19062535 PMID:19259128 PMID:19297523 PMID:19335535 PMID:19369543 PMID:19448103 PMID:19691535 PMID:20128140 PMID:20193560 PMID:20301548 PMID:21254193 PMID:21291455 PMID:21326314 PMID:21504505 PMID:21692908 PMID:22243284 PMID:22464564 PMID:22771394 PMID:22820753 PMID:22944031 PMID:23106488 PMID:23209285 PMID:23384994 PMID:23649551 PMID:23707145 PMID:23773993 PMID:23806086 PMID:23827825 PMID:23871722 PMID:24088041 PMID:24444136 PMID:25025039 PMID:25429913 PMID:25741868 PMID:25802885 PMID:25947624 PMID:26257172 PMID:26392352 PMID:26454100 PMID:26467025 PMID:26955336 PMID:27025386 PMID:27027447 PMID:27098243 PMID:27544631 PMID:27804109 PMID:27844031 PMID:27862672 PMID:28071741 PMID:28097225 PMID:28283593 PMID:28334782 PMID:28448691 PMID:28469099 PMID:28492532 PMID:28768847 PMID:29077882 PMID:29086968 PMID:29095325 PMID:29245364 PMID:29462293 PMID:30340945 PMID:30373780 PMID:31211173 PMID:31323543 PMID:31372974 PMID:31673878 PMID:32010055 PMID:32022442 PMID:32376792 PMID:32399692 PMID:32903794 PMID:33105617 PMID:33136338 PMID:34089394 More...
|
|
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
|
|
G |
Sacs |
sacsin molecular chaperone |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
|
|
|
G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 6 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23297365 PMID:25741868 PMID:28492532 |
|
NCBI chr X:58,477,471...58,553,932
Ensembl chr X:58,486,554...58,553,557
|
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 |
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 PMID:32376792 More...
|
|
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
|
|
G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 |
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 PMID:32376792 More...
|
|
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
|
|
|
G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy |
OMIM ClinVar |
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
|
|
|
G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Child syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10710235 PMID:11907515 PMID:12966526 PMID:18414213 PMID:21290788 PMID:25526675 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
|
|
|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
OMIM ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
|
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
|
|
|
G |
Chm |
CHM Rab escort protein |
|
ISO |
ClinVar Annotator: match by term: Choroideremia | ClinVar Annotator: match by term: Choroideremia, Salla type |
OMIM ClinVar |
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 PMID:8832720 PMID:9067750 PMID:9175730 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16199547 PMID:16936131 PMID:21905166 PMID:22957832 PMID:23811034 PMID:25741868 PMID:25744334 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28041643 PMID:28098911 PMID:28492532 PMID:28559085 PMID:29555028 PMID:30995293 PMID:32364220 PMID:32487042 More...
|
|
NCBI chr X:78,203,200...78,361,996
Ensembl chr X:78,203,204...78,361,943
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy |
ClinVar |
PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 PMID:17576681 PMID:23950152 PMID:25082885 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 PMID:28559085 PMID:32531846 More...
|
|
NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
|
|
|
G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome |
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 More...
|
|
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
|
|
G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
|
|
G |
Hivep2 |
HIVEP zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:8,358,205...8,555,993
Ensembl chr 1:8,359,289...8,555,993
|
|
G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Angelman syndrome-like |
ClinVar |
PMID:15499549 PMID:16813600 PMID:18414213 PMID:19241098 PMID:20479760 PMID:21160487 PMID:21775177 PMID:22867051 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
|
|
G |
Slc9a6 |
solute carrier family 9 member A6 |
|
ISO |
ClinVar Annotator: match by term: Christianson syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18342287 PMID:18414213 PMID:19471312 PMID:19619532 PMID:20395263 PMID:24123876 PMID:25044251 PMID:25167861 PMID:25741868 PMID:26467025 PMID:27256868 PMID:28492532 PMID:32581362 PMID:32776513 PMID:32860008 More...
|
|
NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
|
|
|
G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
ISO |
|
OMIM |
|
|
NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
|
|
G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: HUWE1-Related Disorder |
ClinVar |
|
|
NCBI chr X:20,871,278...21,001,378
Ensembl chr X:20,873,795...21,001,262
|
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
|
OMIM |
|
|
NCBI chr X:1,872,581...1,916,704
Ensembl chr X:1,873,306...1,916,688
|
|
|
G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: CK syndrome |
OMIM ClinVar |
PMID:18414213 PMID:19377476 PMID:21129721 PMID:21290788 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
|
|
|
G |
Dcx |
doublecortin |
|
ISO |
DNA:missense mutation:exon:p.D262G (c.785A>G) (human) ClinVar Annotator: match by term: Lissencephaly, X-linked CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.A71S (211G>T) (human) DNA:missense mutations: :multiple |
ClinVar CTD RGD |
PMID:9489699 PMID:9489700 PMID:10369164 PMID:11175293 PMID:11468322 PMID:12552055 PMID:12838518 PMID:17111359 PMID:18414213 PMID:18685874 PMID:23365099 PMID:25326635 PMID:25741868 PMID:25868952 PMID:28492532 PMID:29671837 PMID:30979500 PMID:27292316 PMID:11071144 PMID:12838518 More...
|
RGD:11568595, RGD:12904735, RGD:12904728 |
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
|
|
G |
Mnt |
MAX network transcriptional repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028671 |
|
NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835
|
|
G |
Pafah1b1 |
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia |
ClinVar |
|
|
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
|
|
|
G |
Tbx22 |
T-box transcription factor 22 |
|
ISO |
ClinVar Annotator: match by term: Cleft palate with ankyloglossia |
ClinVar |
PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 |
|
NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
|
|
|
G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
ClinVar Annotator: match by term: Coffin syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:5581017 PMID:8955270 PMID:9536098 PMID:9837815 PMID:9887375 PMID:10094187 PMID:10528858 PMID:11180593 PMID:11992250 PMID:12439904 PMID:12558110 PMID:14986828 PMID:15214012 PMID:16199547 PMID:16306095 PMID:16879200 PMID:17576681 PMID:17717706 PMID:18414213 PMID:19377476 PMID:19888300 PMID:21488662 PMID:25044551 PMID:25741868 PMID:28492532 PMID:29304373 PMID:31130284 PMID:31319225 PMID:32371413 More...
|
|
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
|
|
|
G |
Aifm1 |
apoptosis inducing factor, mitochondria associated 1 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
OMIM ClinVar |
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
|
|
G |
Rab33a |
RAB33A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy |
ClinVar |
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
|
|
|
G |
Adar |
adenosine deaminase, RNA-specific |
|
ISO |
ClinVar Annotator: match by term: Congenital combined immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
|
|
G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
|
|
G |
Cd27 |
CD27 molecule |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
DNA:polymorphism: :p.G219R (human) |
RGD |
PMID:21543760 |
RGD:5490593 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
|
|
G |
Il2rg |
interleukin 2 receptor subunit gamma |
|
ISO IMP |
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked |
OMIM ClinVar RGD |
PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:10794430 PMID:10794431 PMID:14966353 PMID:16199547 PMID:16227049 PMID:18641513 PMID:20301584 PMID:21184155 PMID:23683512 PMID:25042067 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913 PMID:29948574 PMID:30622570 PMID:30778380 PMID:31799703 PMID:31965297 PMID:32499645 PMID:33628209 PMID:20111598 More...
|
RGD:2316325 |
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
|
|
G |
Il2rgem1Kyo |
interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo |
|
IMP |
|
RGD |
PMID:20111598 |
RGD:2316325 |
|
|
G |
Il2rgem2Kyo |
interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo |
|
IMP |
|
RGD |
PMID:20111598 |
RGD:2316325 |
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24033266 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
|
|
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
|
|
|
G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
|
|
G |
Cftr |
CF transmembrane conductance regulator |
|
ISO IMP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital bilateral absence of the vas deferens associated with Cystic Fibrosis DNA:deletion, missense mutations: :multiple DNA:deletion, nonsense mutations, missense mutations: :multiple |
CTD ClinVar RGD |
PMID:7539342 PMID:8530001 PMID:8662892 PMID:9239681 PMID:9598638 PMID:10762539 PMID:10875853 PMID:11101688 PMID:11119745 PMID:12815607 PMID:12955726 PMID:15070876 PMID:16189704 PMID:17331079 PMID:18951463 PMID:20460946 PMID:20837875 PMID:20880762 PMID:21228398 PMID:21520337 PMID:22992668 PMID:23891399 PMID:23974870 PMID:24033266 PMID:25087612 PMID:25741868 PMID:26014425 PMID:26467025 PMID:26708955 PMID:27171515 PMID:27469177 PMID:28492532 PMID:28603918 PMID:28800122 PMID:30873022 PMID:31268981 PMID:33374015 PMID:24608905 PMID:10653141 PMID:11119745 More...
|
RGD:11566051, RGD:11566040, RGD:11566027 |
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
|
|
G |
Cftrem1Sage |
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage |
|
IMP |
|
RGD |
PMID:24608905 |
RGD:11566051 |
|
|
|
G |
Magt1 |
magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type ICC |
OMIM ClinVar |
PMID:25135935 PMID:25741868 PMID:28492532 PMID:31036665 |
|
NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
|
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
|
|
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
|
|
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
ClinVar |
|
|
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: CDG IY | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1y |
OMIM ClinVar |
PMID:24218363 PMID:25326635 PMID:25741868 PMID:26264460 |
|
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
|
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
|
|
G |
Ccdc120 |
coiled-coil domain containing 120 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,753,594...14,772,745
Ensembl chr X:14,753,696...14,772,743
|
|
G |
Ccdc22 |
coiled-coil domain containing 22 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,898,296...14,910,244
Ensembl chr X:14,898,296...14,910,244
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
|
|
G |
Ebp |
EBP, cholestenol delta-isomerase |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
|
|
G |
Eras |
ES cell expressed Ras |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,573,987...14,578,455
Ensembl chr X:14,573,987...14,578,374
|
|
G |
Foxp3 |
forkhead box P3 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
|
|
G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
|
|
G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
|
|
G |
Gpkow |
G patch domain and KOW motifs |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
|
|
G |
Gripap1 |
GRIP1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,678,896...14,708,747
Ensembl chr X:14,678,898...14,708,679
|
|
G |
Hdac6 |
histone deacetylase 6 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
|
|
G |
Kcnd1 |
potassium voltage-gated channel subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,661,688...14,678,745
Ensembl chr X:14,662,357...14,677,233
|
|
G |
Magix |
MAGI family member, X-linked |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,824,114...14,832,466
Ensembl chr X:14,824,188...14,831,045
|
|
G |
Mir500 |
microRNA 500 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
|
|
G |
Mir532 |
microRNA 532 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
|
|
G |
Otud5 |
OTU deubiquitinase 5 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
|
|
G |
Pcsk1n |
proprotein convertase subtilisin/kexin type 1 inhibitor |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
|
|
G |
Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
|
|
G |
Plp2 |
proteolipid protein 2 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,834,249...14,837,648
Ensembl chr X:14,834,231...14,838,514
|
|
G |
Ppp1r3f |
protein phosphatase 1, regulatory subunit 3F |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,915,740...14,945,249
Ensembl chr X:14,929,323...14,945,193
|
|
G |
Pqbp1 |
polyglutamine binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
|
|
G |
Praf2 |
PRA1 domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,773,398...14,776,035
Ensembl chr X:14,773,420...14,775,909
|
|
G |
Prickle3 |
prickle planar cell polarity protein 3 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,837,647...14,849,305
Ensembl chr X:14,837,650...14,848,218
|
|
G |
Rbm3 |
RNA binding motif protein 3 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,348,909...14,352,387
Ensembl chr X:14,348,910...14,353,580
|
|
G |
Slc35a2 |
solute carrier family 35 member A2 |
|
ISO |
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG |
OMIM ClinVar |
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28492532 PMID:28771251 PMID:29907092 PMID:30194038 PMID:30653653 PMID:30746764 PMID:30817854 More...
|
|
NCBI chr X:14,608,145...14,616,937
Ensembl chr X:14,608,055...14,616,678
|
|
G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,421,028...14,434,216
Ensembl chr X:14,421,109...14,433,982
|
|
G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:141,793,695...141,795,558
|
|
G |
Syp |
synaptophysin |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,849,444...14,864,553
Ensembl chr X:14,849,444...14,864,745
|
|
G |
Tbc1d25 |
TBC1 domain family, member 25 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,314,095...14,339,171
Ensembl chr X:14,314,414...14,338,275
|
|
G |
Tfe3 |
transcription factor binding to IGHM enhancer 3 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,729,547...14,742,830
Ensembl chr X:14,729,550...14,742,571
|
|
G |
Timm17b |
translocase of inner mitochondrial membrane 17b |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,596,330...14,603,491
Ensembl chr X:14,594,577...14,603,416
|
|
G |
Usp27x |
ubiquitin specific peptidase 27, X-linked |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:15,123,642...15,126,855
Ensembl chr X:15,124,596...15,125,912
|
|
G |
Was |
WASP actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
|
|
G |
Wdr13 |
WD repeat domain 13 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,362,479...14,373,727
Ensembl chr X:14,362,860...14,373,727
|
|
G |
Wdr45 |
WD repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: SLC35A2-CDG |
ClinVar |
PMID:28492532 |
|
NCBI chr X:14,776,280...14,782,197
Ensembl chr X:14,776,293...14,782,202
|
|
|
G |
Adgrg4 |
adhesion G protein-coupled receptor G4 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,734,610...134,864,449
Ensembl chr X:134,854,736...134,864,449
|
|
G |
Arhgef6 |
Rac/Cdc42 guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:135,145,447...135,264,636
Ensembl chr X:135,146,786...135,275,304
|
|
G |
Brs3 |
bombesin receptor subtype 3 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,906,817...134,932,321
Ensembl chr X:134,906,784...134,930,983
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
|
|
G |
Fhl1 |
four and a half LIM domains 1 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,555,399...134,614,930
Ensembl chr X:134,555,479...134,614,928
|
|
G |
Gpr101 |
G protein-coupled receptor 101 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
|
|
G |
Htatsf1 |
HIV-1 Tat specific factor 1 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,935,426...134,949,607
Ensembl chr X:134,935,426...134,949,607
|
|
G |
Map7d3 |
MAP7 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,619,227...134,647,525
Ensembl chr X:134,619,227...134,685,841
|
|
G |
Rbmx |
RNA binding motif protein, X-linked |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:135,305,237...135,314,806
Ensembl chr X:135,305,325...135,314,743
|
|
G |
Slc9a6 |
solute carrier family 9 member A6 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,430,588...134,486,747
Ensembl chr X:134,420,756...134,485,375
|
|
G |
Vgll1 |
vestigial-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Visceral heterotaxia |
ClinVar |
PMID:21465648 PMID:24123890 PMID:28492532 |
|
NCBI chr X:134,979,657...134,996,007
|
|
G |
Zic3 |
Zic family member 3 |
|
ISO |
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked | ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia |
OMIM ClinVar |
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 PMID:17295247 PMID:17764085 PMID:18716025 PMID:21465648 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:27406248 PMID:28492532 PMID:32753700 More...
|
|
NCBI chr X:136,123,662...136,134,295
Ensembl chr X:136,124,026...136,134,746
|
|
|
G |
Nono |
non-POU domain containing, octamer-binding |
|
ISO |
DNA:nonsense mutation, frameshift mutation, deletion:CDS, exons:p.R365*, p.N466Kfs*13, (human) |
RGD |
PMID:27550220 |
RGD:155882461 |
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
|
|
|
G |
Irs4 |
insulin receptor substrate 4 |
|
ISO |
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 9 |
OMIM ClinVar |
PMID:25741868 PMID:30061370 |
|
NCBI chr X:105,344,016...105,359,985
|
|
|
G |
Frmd7 |
FERM domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16020310 PMID:17013395 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:25741868 PMID:25916882 PMID:28492532 More...
|
|
NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
|
|
|
G |
Nyx |
nyctalopin |
|
ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 1A |
OMIM ClinVar |
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 PMID:23406521 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr X:9,280,864...9,301,900
Ensembl chr X:9,280,864...9,301,900
|
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 |
OMIM ClinVar |
PMID:9529339 PMID:9662399 PMID:9662400 PMID:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15897456 PMID:17525176 PMID:22194652 PMID:23714322 PMID:24033266 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28041643 PMID:28492532 PMID:30576320 PMID:30718709 PMID:30825406 More...
|
|
NCBI chr X:14,868,096...14,896,413
Ensembl chr X:14,868,024...14,896,413
|
|
|
G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
|
|
G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:19052029 PMID:23683030 PMID:28492532 |
|
NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
|
|
G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
|
|
G |
Smc1a |
structural maintenance of chromosomes 1A |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy |
OMIM ClinVar |
PMID:9536098 PMID:11877377 PMID:16199547 PMID:16273072 PMID:16604071 PMID:17273969 PMID:17576681 PMID:18414213 PMID:18996922 PMID:19052029 PMID:19701948 PMID:19842212 PMID:20635401 PMID:22106055 PMID:23551878 PMID:23683030 PMID:24088041 PMID:24124034 PMID:24756084 PMID:25125236 PMID:25326635 PMID:25574841 PMID:25741868 PMID:26354354 PMID:26358754 PMID:26386245 PMID:26467025 PMID:26633545 PMID:26752331 PMID:27159028 PMID:27334371 PMID:28166369 PMID:28425213 PMID:28492532 PMID:28548707 PMID:28826797 PMID:30158690 PMID:30847515 PMID:30871455 PMID:31157197 PMID:31334757 PMID:32238909 More...
|
|
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
|
|
|
G |
Dmrtc1a |
DMRT-like family C1a |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
|
NCBI chr X:67,822,187...67,852,572
Ensembl chr X:67,822,113...67,852,571
|
|
G |
Dmrtc1c1 |
DMRT-like family C1c1 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
|
NCBI chr X:67,896,973...67,904,182
Ensembl chr X:67,896,974...67,904,182
|
|
G |
Hdac8 |
histone deacetylase 8 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 DNA:snp:intron:c.164+5G>A (human) DNA:missense mutations, deletions, duplication:multiple (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19605684 PMID:21320778 PMID:22885700 PMID:22889856 PMID:24038889 PMID:24088041 PMID:24375697 PMID:24403048 PMID:25075551 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25574841 PMID:25741868 PMID:26463496 PMID:26633545 PMID:26671848 PMID:26725122 PMID:27159028 PMID:28492532 PMID:30158690 PMID:22889856 PMID:24403048 More...
|
RGD:13208817, RGD:11068490 |
NCBI chr X:67,385,288...67,593,014
Ensembl chr X:67,385,289...67,592,923
|
|
G |
Nap1l2 |
nucleosome assembly protein 1-like 2 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
|
NCBI chr X:68,174,051...68,176,449
Ensembl chr X:68,173,987...68,176,666
|
|
G |
Pabpc1l2a |
poly(A) binding protein, cytoplasmic 1-like 2A |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 |
|
NCBI chr X:68,023,977...68,026,508
|
|
G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 |
ClinVar |
PMID:24403048 PMID:25741868 |
|
NCBI chr X:67,601,302...67,738,504
Ensembl chr X:67,601,302...67,738,455
|
|
|
G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome |
OMIM ClinVar |
PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 PMID:34298581 More...
|
|
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
|
|
|
G |
Igbp1 |
immunoglobulin binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr X:65,582,832...65,605,078
Ensembl chr X:65,582,821...65,606,049
|
|
|
G |
Eda |
ectodysplasin-A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17941886 |
|
NCBI chr X:65,078,454...65,480,172
Ensembl chr X:65,078,673...65,480,172
|
|
G |
Efnb1 |
ephrin B1 |
|
ISO |
ClinVar Annotator: match by term: Craniofrontonasal syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1468459 PMID:6627724 PMID:15124102 PMID:15166289 PMID:16639408 PMID:16685650 PMID:17941886 PMID:18043713 PMID:23335590 PMID:25741868 PMID:28492532 PMID:31837199 More...
|
|
NCBI chr X:64,257,351...64,270,158
Ensembl chr X:64,257,351...64,270,157
|
|
G |
Ophn1 |
oligophrenin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17941886 |
|
NCBI chr X:63,599,746...63,976,678
Ensembl chr X:63,603,042...63,976,633
|
|
G |
Pja1 |
praja ring finger ubiquitin ligase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17941886 |
|
NCBI chr X:64,580,938...64,585,864
Ensembl chr X:64,580,849...64,585,833
|
|
|
G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
|
|
G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
|
|
G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
|
|
G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
|
|
G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Creatine deficiency syndrome 1 | ClinVar Annotator: match by term: Creatine transporter deficiency CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:12544242 PMID:15154114 PMID:15857409 PMID:16086185 PMID:16199547 PMID:16738945 PMID:17101918 PMID:17465020 PMID:17576681 PMID:18047645 PMID:18414213 PMID:19763152 PMID:20307669 PMID:20717164 PMID:21910234 PMID:22281021 PMID:22406018 PMID:22659343 PMID:23408511 PMID:25326635 PMID:25741868 PMID:25861866 PMID:26467025 PMID:27408820 PMID:28492532 PMID:30885608 PMID:32860008 PMID:33624935 More...
|
|
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
|
|
G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
|
|
G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Creatine transporter deficiency |
ClinVar |
PMID:18047645 PMID:22659343 PMID:28492532 |
|
NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
|
|
|
G |
Akap14 |
A-kinase anchoring protein 14 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,395,512...116,410,697
Ensembl chr X:116,395,516...116,410,697
|
|
G |
Atp1b4 |
ATPase Na+/K+ transporting family member beta 4 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:117,087,284...117,108,023
Ensembl chr X:117,057,423...117,108,020
|
|
G |
Lamp2 |
lysosomal-associated membrane protein 2 |
|
ISO IMP |
ClinVar Annotator: match by term: Danon disease | ClinVar Annotator: match by term: Glycogen Storage Disease Type IIb | ClinVar Annotator: match by term: Glycogen storage cardiomyopathy in hemizygote mutant male (LAMP2y/-) |
OMIM ClinVar RGD |
PMID:3087571 PMID:6408499 PMID:6450334 PMID:8504498 PMID:9536098 PMID:10972294 PMID:12112061 PMID:14598234 PMID:15253947 PMID:15673802 PMID:15889279 PMID:15907287 PMID:16144992 PMID:16190986 PMID:16199547 PMID:16217705 PMID:16565504 PMID:17576681 PMID:17899313 PMID:18004770 PMID:18061453 PMID:18282207 PMID:18312451 PMID:18555174 PMID:18990578 PMID:19318653 PMID:19373884 PMID:19533775 PMID:20173215 PMID:20445193 PMID:20960602 PMID:21415759 PMID:21896538 PMID:22074992 PMID:22695892 PMID:23168931 PMID:23785128 PMID:24033266 PMID:24503780 PMID:24691104 PMID:25091525 PMID:25326635 PMID:25458169 PMID:25525159 PMID:25611685 PMID:25741868 PMID:26748608 PMID:27460667 PMID:27532257 PMID:27600940 PMID:28255936 PMID:28492532 PMID:28771489 PMID:28822614 PMID:29753918 PMID:29875424 PMID:29915097 PMID:30108015 PMID:30847666 PMID:30984009 PMID:31464081 PMID:31638414 PMID:31729179 PMID:33495597 PMID:34906502 PMID:29720683 More...
|
RGD:13703117 |
NCBI chr X:117,173,097...117,222,090
Ensembl chr X:117,057,606...117,260,522
|
|
G |
Lamp2em1 |
lysosomal-associated membrane protein 2; TALEN induced mutant1 |
|
IMP |
in hemizygote mutant male (LAMP2y/-) |
RGD |
PMID:29720683 |
RGD:13703117 |
|
|
G |
Ndufa1 |
NADH:ubiquinone oxidoreductase subunit A1 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,424,223...116,427,875
Ensembl chr X:116,424,223...116,428,633
|
|
G |
Nkap |
NFKB activating protein |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,373,031...116,392,677
Ensembl chr X:116,372,839...116,394,945
|
|
G |
Rhox13 |
Rhox homeobox family member 13 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,911,157...116,917,938
Ensembl chr X:116,911,329...116,917,644
|
|
G |
Rhoxf2b |
Rhox homeobox family member 2B |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,507,488...116,514,240
Ensembl chr X:116,507,488...116,513,870
|
|
G |
Rnf113a1 |
ring finger protein 113A1 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,428,037...116,429,164
Ensembl chr X:116,427,684...116,433,762
|
|
G |
Tmem255a |
transmembrane protein 255A |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,970,793...117,035,008
Ensembl chr X:116,970,695...117,035,008
|
|
G |
Upf3b |
UPF3B, regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,335,308...116,353,332
Ensembl chr X:116,335,308...116,353,236
|
|
G |
Zbtb33 |
zinc finger and BTB domain containing 33 |
|
ISO |
ClinVar Annotator: match by term: Danon disease |
ClinVar |
PMID:28492532 |
|
NCBI chr X:116,963,337...116,970,547
Ensembl chr X:116,963,347...116,971,023
|
|
|
G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
OMIM ClinVar |
PMID:24011989 PMID:25741868 |
|
NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
|
|
G |
Slc6a8 |
solute carrier family 6 member 8 |
|
ISO |
ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
ClinVar |
PMID:24011989 |
|
NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
|
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dent disease |
CTD ClinVar |
PMID:10561751 PMID:15719255 PMID:15814539 PMID:20804101 PMID:28492532 |
|
NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
|
|
G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Dent disease |
ClinVar |
PMID:15108291 PMID:21971085 PMID:27398910 PMID:29300302 |
|
NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
|
|
|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2 |
OMIM ClinVar |
PMID:7874126 PMID:7915957 PMID:8559248 PMID:8950885 PMID:9062355 PMID:9187673 PMID:9259268 PMID:9328929 PMID:9734595 PMID:9853249 PMID:10469281 PMID:10906159 PMID:11136179 PMID:12637640 PMID:14569459 PMID:15052463 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16041495 PMID:16247550 PMID:16822791 PMID:16861240 PMID:18038239 PMID:18184518 PMID:19076289 PMID:19546586 PMID:19546591 PMID:19657328 PMID:19673950 PMID:19806368 PMID:22876375 PMID:24081861 PMID:25001568 PMID:25326635 PMID:25741868 PMID:25907713 PMID:26822237 PMID:28492532 PMID:28580211 PMID:30773290 PMID:32289351 PMID:33532864 PMID:35738466 More...
|
|
NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
|
|
G |
Mir188 |
microRNA 188 |
|
ISO |
ClinVar Annotator: match by term: Nephrolithiasis 2 |
ClinVar |
PMID:7874126 PMID:9328929 PMID:15052463 |
|
NCBI chr X:15,247,715...15,247,794
Ensembl chr X:15,247,715...15,247,794
|
|
G |
Mir500 |
microRNA 500 |
|
ISO |
ClinVar Annotator: match by term: Nephrolithiasis 2 |
ClinVar |
PMID:7874126 PMID:9328929 PMID:15052463 |
|
NCBI chr X:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
|
|
G |
Mir532 |
microRNA 532 |
|
ISO |
ClinVar Annotator: match by term: Nephrolithiasis 2 |
ClinVar |
PMID:7874126 PMID:9328929 PMID:15052463 |
|
NCBI chr X:15,247,315...15,247,393
Ensembl chr X:15,247,315...15,247,393
|
|
|
G |
Inpp5b |
inositol polyphosphate-5-phosphatase B |
|
ISO |
ClinVar Annotator: match by term: Dent disease type 2 |
ClinVar |
PMID:28018608 |
|
NCBI chr 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315
|
|
G |
Ocrl |
OCRL, inositol polyphosphate-5-phosphatase |
|
ISO |
ClinVar Annotator: match by term: Dent disease type 2 |
OMIM ClinVar |
PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 PMID:17384968 PMID:21031565 PMID:22381590 PMID:23047739 PMID:24081861 PMID:25741868 PMID:26694549 PMID:27625797 PMID:28018608 PMID:28492532 PMID:28803024 PMID:34125233 PMID:34139759 More...
|
|
NCBI chr X:127,089,508...127,140,362
Ensembl chr X:127,089,590...127,140,362
|
|
|
G |
Abca3 |
ATP binding cassette subfamily A member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
|
|
G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
|
|
G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr X:107,885,039...107,906,264
Ensembl chr X:107,885,064...107,893,002
|
|
G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
|
|
G |
Arx |
aristaless related homeobox |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human) |
OMIM ClinVar RGD |
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 PMID:10353782 PMID:10398246 PMID:11889467 PMID:11971879 PMID:12116222 PMID:12177367 PMID:12376938 PMID:12376946 PMID:12376949 PMID:12379852 PMID:12640086 PMID:12874418 PMID:14722918 PMID:15151512 PMID:15200506 PMID:15850492 PMID:16078051 PMID:16199547 PMID:16523516 PMID:17480217 PMID:17576681 PMID:17641262 PMID:17668384 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19507262 PMID:19606478 PMID:19738637 PMID:20148114 PMID:20300201 PMID:21108397 PMID:21204226 PMID:21496008 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24643514 PMID:24781210 PMID:25741868 PMID:26029707 PMID:26337422 PMID:26467025 PMID:28492532 PMID:29152528 PMID:31691806 PMID:32313153 PMID:17664401 PMID:19587282 More...
|
RGD:11565846, RGD:11565838 |
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
|
|
G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:19811514 PMID:20097664 PMID:21183743 PMID:22249839 PMID:23831250 PMID:25596066 PMID:25741868 PMID:25758715 PMID:26467025 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
|
|
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
|
|
G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
ISO |
ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy |
ClinVar |
PMID:28492532 PMID:32820246 PMID:33497533 |
|
NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
|
|
G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
|
|
G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 More...
|
|
NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
|
|
G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
|
|
G |
Csnk1e |
casein kinase 1, epsilon |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
|
NCBI chr 7:110,983,322...111,006,926
Ensembl chr 7:110,983,318...111,006,794
|
|
G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
|
|
G |
Dnm1 |
dynamin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:30097719 PMID:32909139 |
|
NCBI chr 3:15,604,782...15,648,654
Ensembl chr 3:15,604,784...15,648,538
|
|
G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
|
|
G |
Eci1 |
enoyl-CoA delta isomerase 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
|
|
G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
|
|
G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
|
|
G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
|
|
G |
Hcn1 |
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24747641 |
|
NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
|
|
G |
Hnrnpu |
heterogeneous nuclear ribonucleoprotein U |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
|
NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
|
|
G |
Kcna2 |
potassium voltage-gated channel subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 More...
|
|
NCBI chr 2:194,704,555...194,718,387
Ensembl chr 2:194,704,639...194,718,400
|
|
G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
|
|
G |
Maf |
MAF bZIP transcription factor |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24369382 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:31130284 PMID:31780880 More...
|
|
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
|
|
G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
|
|
G |
Napb |
NSF attachment protein beta |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:33189936 |
|
NCBI chr 3:136,132,248...136,179,225
Ensembl chr 3:136,133,428...136,179,345
|
|
G |
Nrxn2 |
neurexin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
|
|
NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
|
|
G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
|
|
G |
Pacs2 |
phosphofurin acidic cluster sorting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 PMID:28135719 PMID:28191890 PMID:28492532 PMID:28628100 PMID:28867141 PMID:29656858 PMID:30290155 PMID:30904718 PMID:31036916 PMID:31231135 PMID:34782754 More...
|
|
NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
|
|
G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
|
|
G |
Pcyt1b |
phosphate cytidylyltransferase 1B, choline |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:58,378,090...58,471,623
Ensembl chr X:58,378,116...58,468,935
|
|
G |
Pdk3 |
pyruvate dehydrogenase kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:58,477,471...58,553,932
Ensembl chr X:58,486,554...58,553,557
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
|
|
G |
Plcb1 |
phospholipase C beta 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869
|
|
G |
Pola1 |
DNA polymerase alpha 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:58,034,617...58,348,612
Ensembl chr X:58,034,619...58,348,536
|
|
G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
|
|
G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome |
ClinVar |
PMID:11940708 PMID:12083760 PMID:16458823 PMID:20522430 PMID:22151702 PMID:23195492 PMID:23808377 PMID:25741868 PMID:26096185 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
|
|
G |
Slc25a12 |
solute carrier family 25 member 12 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:56,098,080...56,192,188
Ensembl chr 3:56,097,269...56,192,100
|
|
G |
St3gal3 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
|
|
G |
Synj1 |
synaptojanin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:30,192,629...30,269,277
Ensembl chr11:30,192,629...30,269,220
|
|
G |
Szt2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
|
|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 PMID:16855591 PMID:17576681 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25401298 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:27784474 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29671961 PMID:30108545 PMID:30139988 PMID:30180405 PMID:30311386 PMID:30335140 PMID:30776697 PMID:31112829 PMID:31257402 PMID:31780880 PMID:32369273 PMID:32581362 More...
|
|
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
|
|
G |
Tedc2 |
tubulin epsilon and delta complex 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124
|
|
G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
|
|
G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms |
ClinVar |
PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27848944 PMID:27884173 PMID:28130116 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29808465 PMID:29905011 PMID:30356099 PMID:30746283 PMID:30853297 PMID:31130284 PMID:31618474 PMID:31780880 More...
|
|
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
|
|
|
G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
|
|
G |
Atp6v1a |
ATPase H+ transporting V1 subunit A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr11:56,561,444...56,614,694
Ensembl chr11:56,560,974...56,614,694
|
|
G |
Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:35,257,228...35,328,883
Ensembl chr X:35,263,576...35,328,816
|
|
G |
Bend2 |
BEN domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
|
|
NCBI chr X:33,365,748...33,389,773
|
|
G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
severity |
ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 |
ClinVar OMIM RGD |
PMID:9536098 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16199547 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17546640 PMID:17576681 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18266744 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:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22430159 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23708187 PMID:23756444 PMID:23828526 PMID:24564546 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25640679 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26112015 PMID:26467025 PMID:26482601 PMID:27334371 PMID:27599155 PMID:27770071 PMID:27824329 PMID:28492532 PMID:28837158 PMID:29095814 PMID:29100083 PMID:29190809 PMID:29264392 PMID:29420175 PMID:29444904 PMID:29655203 PMID:29852413 PMID:30182498 PMID:30460546 PMID:30624022 PMID:30776697 PMID:30898514 PMID:31313283 PMID:31690835 PMID:31791873 PMID:33436160 PMID:22678952 More...
|
RGD:12791015 |
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
|
|
G |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
|
|
G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
|
|
G |
Map7d2 |
MAP7 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
|
|
G |
Nhs |
NHS actin remodeling regulator |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
|
|
NCBI chr X:32,551,974...32,892,961
Ensembl chr X:32,552,026...32,889,992
|
|
G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
|
|
G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
|
|
G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
|
|
G |
Rai2 |
retinoic acid induced 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
|
|
NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
|
|
G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:35,517,306...35,623,296
Ensembl chr X:35,517,306...35,623,207
|
|
G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 |
ClinVar |
PMID:9536098 PMID:15499549 PMID:16813600 PMID:17546640 PMID:17576681 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:23064044 PMID:23184456 PMID:23756444 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26112015 PMID:26467025 PMID:27824329 PMID:28492532 PMID:29655203 PMID:30624022 More...
|
|
NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
|
|
G |
Scml1 |
Scm polycomb group protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
|
|
NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
|
|
G |
Scml2 |
Scm polycomb group protein like 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532 More...
|
|
NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
|
|
G |
Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:18076117 PMID:25315662 PMID:28492532 |
|
NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
|
|
G |
Snap25 |
synaptosome associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
|
|
|
G |
Alg13 |
ALG13, UDP-N-acetylglucosaminyltransferase subunit |
|
ISO |
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 PMID:23934111 PMID:24476948 PMID:24781210 PMID:24896178 PMID:25732998 PMID:25741868 PMID:26138355 PMID:26467025 PMID:26482601 PMID:28492532 PMID:28777499 PMID:28778787 PMID:28887793 PMID:28940310 PMID:32238909 PMID:32681751 PMID:33734437 More...
|
|
NCBI chr X:107,885,039...107,906,264
Ensembl chr X:107,885,064...107,893,002
|
|
G |
Dcx |
doublecortin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 |
ClinVar |
PMID:28492532 |
|
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
|
|
|
G |
Arhgef9 |
Cdc42 guanine nucleotide exchange factor 9 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 |
OMIM ClinVar |
PMID:9536098 PMID:15215304 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28708303 PMID:29130122 PMID:30914922 PMID:32005694 PMID:32860008 More...
|
|
NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
|
|
|
G |
Diaph2 |
diaphanous-related formin 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:92,395,189...93,234,521
Ensembl chr X:92,395,251...93,229,869
|
|
G |
Fam133a |
family with sequence similarity 133, member A |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
|
|
|
G |
Nap1l3 |
nucleosome assembly protein 1-like 3 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:88,347,595...88,350,393
Ensembl chr X:88,347,598...88,350,393
|
|
G |
Pabpc5 |
poly A binding protein, cytoplasmic 5 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:85,637,763...85,641,235
Ensembl chr X:85,638,574...85,639,722
|
|
G |
Pcdh11x |
protocadherin 11 X-linked |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:86,058,348...86,751,078
Ensembl chr X:86,058,394...86,747,036
|
|
G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 | ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME |
OMIM ClinVar |
PMID:5116697 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18234694 PMID:18414213 PMID:18469813 PMID:19214208 PMID:19377476 PMID:19752159 PMID:20713952 PMID:21053371 PMID:21480887 PMID:21519002 PMID:22050978 PMID:22267240 PMID:22504056 PMID:22848613 PMID:22946748 PMID:22949144 PMID:23066759 PMID:23334464 PMID:23708187 PMID:23712037 PMID:23808377 PMID:25326635 PMID:25499160 PMID:25741868 PMID:25891919 PMID:26467025 PMID:26765483 PMID:27143072 PMID:27179713 PMID:27527380 PMID:27787195 PMID:27884173 PMID:28334947 PMID:28462982 PMID:28492532 PMID:28669061 PMID:28837158 PMID:29064093 PMID:29301106 PMID:29358611 PMID:29377098 PMID:29655203 PMID:29763708 PMID:29866057 PMID:29933145 PMID:29933521 PMID:30287595 PMID:30451291 PMID:30530412 PMID:30828795 PMID:30945278 PMID:31031587 PMID:31302675 PMID:31319225 PMID:31618753 PMID:31665840 PMID:31901402 PMID:32425876 PMID:33262389 PMID:34008892 More...
|
|
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
|
|
G |
Srpx2 |
sushi-repeat-containing protein, X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
|
NCBI chr X:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
|
|
G |
Tgif2lx2 |
TGFB-induced factor homeobox 2-like, X-linked 2 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:25741868 |
|
NCBI chr X:84,109,203...84,110,264
Ensembl chr X:84,109,220...84,110,274
|
|
G |
Tnmd |
tenomodulin |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
|
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
|
|
G |
Tspan6 |
tetraspanin 6 |
|
ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 |
ClinVar |
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098 |
|
NCBI chr X:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
|
|
|
G |
Tsr2 |
TSR2, ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
|
NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
|
|
|
G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
|
|
G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
|
|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
|
|
G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
|
|
G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
|
|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
|
|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
|
|
G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
|
|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
|
|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
|
|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
|
|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
|
|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
|
|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
|
|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
|
|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
|
|
G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
|
|
G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
|
|
G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,648,494...166,648,582
|
|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
|
|
G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
|
|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
|
|
G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
|
|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
|
|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
|
|
G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
|
|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
|
|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
|
|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
|
|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
|
|
G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 PMID:24140581 PMID:25640679 PMID:25741868 PMID:26350513 PMID:27535533 PMID:28166811 PMID:28492532 PMID:28798025 PMID:30847666 PMID:31333075 PMID:31568572 PMID:31983221 PMID:32041989 PMID:32233023 PMID:32880476 PMID:33500567 PMID:34540771 More...
|
|
NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
|
|
G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
|
|
G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,462,610...165,465,213
|
|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
|
|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
|
|
G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
|
|
G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
|
|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
|
|
G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
|
|
G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
|
|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
|
|
G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
|
|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
|
|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
|
|
G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
|
|
G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
|
|
G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
|
|
|
G |
Mybpc3 |
myosin binding protein C3 |
|
ISO |
ClinVar Annotator: match by term: Left ventricular noncompaction 10 |
OMIM ClinVar |
PMID:1853307 PMID:2073894 PMID:2943217 PMID:7493025 PMID:7493026 PMID:7786104 PMID:8533079 PMID:9048664 PMID:9503187 PMID:9536098 PMID:9541115 PMID:9562578 PMID:9631872 PMID:9742053 PMID:10424815 PMID:10521296 PMID:10610770 PMID:10736283 PMID:11499718 PMID:11499719 PMID:11748309 PMID:11815426 PMID:11847170 PMID:12110947 PMID:12117842 PMID:12202917 PMID:12379228 PMID:12386147 PMID:12566107 PMID:12601548 PMID:12628722 PMID:12707239 PMID:12787675 PMID:12788380 PMID:12818575 PMID:12951062 PMID:12974739 PMID:14563344 PMID:15010274 PMID:15114369 PMID:15115610 PMID:15166115 PMID:15519027 PMID:15563892 PMID:15671604 PMID:15769446 PMID:16004897 PMID:16181148 PMID:16199542 PMID:16199547 PMID:16267253 PMID:16335287 PMID:16352453 PMID:16651346 PMID:16679492 PMID:16715312 PMID:16754800 PMID:16831826 PMID:16858239 PMID:17536430 PMID:17560888 PMID:17576681 PMID:17908752 PMID:17937428 PMID:18258667 PMID:18273486 PMID:18374358 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18467358 PMID:18533079 PMID:18761664 PMID:18809796 PMID:18926831 PMID:18929575 PMID:18957093 PMID:19035361 PMID:19150014 PMID:19151713 PMID:19273718 PMID:19293840 PMID:19356534 PMID:19574547 PMID:19590044 PMID:19632136 PMID:19659763 PMID:19808356 PMID:19996403 PMID:20019025 PMID:20031602 PMID:20031618 PMID:20045868 PMID:20159828 PMID:20173211 PMID:20201939 PMID:20215591 PMID:20359594 PMID:20378854 PMID:20414521 PMID:20433692 PMID:20435227 PMID:20439259 PMID:20474083 PMID:20505798 PMID:20530761 PMID:20542340 PMID:20624503 PMID:20738943 PMID:20800588 PMID:20818890 PMID:20864638 PMID:21185001 PMID:21185128 PMID:21239446 PMID:21252143 PMID:21297165 PMID:21302287 PMID:21310275 PMID:21409595 PMID:21415409 PMID:21424860 PMID:21425739 PMID:21472310 PMID:21499742 PMID:21511876 PMID:21520333 PMID:21551322 PMID:21638988 PMID:21750094 PMID:21832025 PMID:21832052 PMID:21835286 PMID:21835320 PMID:21839045 PMID:21915287 PMID:21939669 PMID:21959974 PMID:21985754 PMID:22057632 PMID:22112859 PMID:22115648 PMID:22177269 PMID:22194935 PMID:22267749 PMID:22361390 PMID:22386539 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22555271 PMID:22563033 PMID:22569109 PMID:22574137 PMID:22589294 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22907696 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23140321 PMID:23164068 PMID:23197398 PMID:23233322 PMID:23283745 PMID:23299917 PMID:23348723 PMID:23349452 PMID:23396983 PMID:23418287 PMID:23508784 PMID:23527136 PMID:23534983 PMID:23549607 PMID:23642604 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23740383 PMID:23782526 PMID:23785128 PMID:23840593 PMID:23861362 PMID:23980194 PMID:24033266 PMID:24055113 PMID:24062880 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24327208 PMID:24503780 PMID:24510615 PMID:24602869 PMID:24621997 PMID:24704860 PMID:24721642 PMID:24774285 PMID:24793961 PMID:24810389 PMID:24835277 PMID:24865491 PMID:25031304 PMID:25037680 PMID:25058872 PMID:25078086 PMID:25086479 PMID:25132132 PMID:25163546 PMID:25281569 PMID:25335496 PMID:25342278 PMID:25351510 PMID:25377941 PMID:25447171 PMID:25524337 PMID:25525159 PMID:25543971 PMID:25558701 PMID:25569433 PMID:25583989 PMID:25611685 PMID:25631583 PMID:25635128 PMID:25637381 PMID:25640679 PMID:25714468 PMID:25740977 PMID:25741868 PMID:25741869 PMID:25856671 PMID:25892673 PMID:25971843 PMID:26090888 PMID:26163040 PMID:26178432 PMID:26189708 PMID:26271555 PMID:26332198 PMID:26332594 PMID:26383716 PMID:26458567 PMID:26467025 PMID:26489474 PMID:26654849 PMID:26671970 PMID:26688216 PMID:26743238 PMID:26822237 PMID:26914223 PMID:26936621 PMID:27096365 PMID:27108529 PMID:27153395 PMID:27173948 PMID:27194543 PMID:27217341 PMID:27267291 PMID:27332903 PMID:27391121 PMID:27418595 PMID:27435932 PMID:27476098 PMID:27483260 PMID:27532257 PMID:27561770 PMID:27576561 PMID:27590665 PMID:27600940 PMID:27618852 PMID:27650965 PMID:27688314 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27896284 PMID:27930701 PMID:28024942 PMID:28031081 PMID:28074886 PMID:28087566 PMID:28138913 PMID:28166282 PMID:28166811 PMID:28193612 PMID:28202948 PMID:28214152 PMID:28241245 PMID:28255936 PMID:28323875 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28436997 PMID:28492532 PMID:28498465 PMID:28518168 PMID:28538763 PMID:28611029 PMID:28615295 PMID:28658286 PMID:28679633 PMID:28747690 PMID:28771489 PMID:28790153 PMID:28794111 PMID:28798025 PMID:28807990 PMID:28824454 PMID:28840316 PMID:28843747 PMID:28916354 PMID:28971120 PMID:28986452 PMID:29029073 PMID:29030401 PMID:29032884 PMID:29121657 PMID:29212898 PMID:29237689 PMID:29247119 PMID:29255176 PMID:29367541 PMID:29398688 PMID:29420653 PMID:29447731 PMID:29451820 PMID:29511324 PMID:29540445 PMID:29555771 PMID:29565423 PMID:29641836 PMID:29661763 PMID:29663722 PMID:29686099 PMID:29687901 PMID:29710196 PMID:29759671 PMID:29764897 PMID:29790872 PMID:29853478 PMID:29875314 PMID:29875424 PMID:29907873 PMID:29914921 PMID:30025578 PMID:30165862 PMID:30206291 PMID:30282064 PMID:30297972 PMID:30316040 PMID:30446606 PMID:30471092 PMID:30528150 PMID:30550750 PMID:30609409 PMID:30645170 PMID:30685992 PMID:30731207 PMID:30742251 PMID:30762279 PMID:30775854 PMID:30790116 PMID:30847666 PMID:30871747 PMID:30896616 PMID:30924982 PMID:30959811 PMID:30972196 PMID:31006259 PMID:31019283 PMID:31028938 PMID:31050699 PMID:31199839 PMID:31219556 PMID:31323898 PMID:31376648 PMID:31447099 PMID:31453232 PMID:31513939 PMID:31514951 PMID:31524317 PMID:31534214 PMID:31699567 PMID:31737537 PMID:31901299 PMID:31918855 PMID:31931689 PMID:31941943 PMID:31980526 PMID:31983221 PMID:32009526 PMID:32163302 PMID:32183154 PMID:32233023 PMID:32250699 PMID:32356610 PMID:32396390 PMID:32481709 PMID:32492895 PMID:32531501 PMID:32543992 PMID:32600061 PMID:32656747 PMID:32686758 PMID:32731933 PMID:32746448 PMID:32830170 PMID:32841044 PMID:32880476 PMID:33003980 PMID:33035702 PMID:33190526 PMID:33258288 PMID:33495597 PMID:33673806 PMID:33782553 PMID:34088380 PMID:34097875 PMID:34137518 PMID:34389451 PMID:34540771 PMID:35535697 PMID:397516074 More...
|
|
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
|
|
|
G |
Des |
desmin |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1S |
ClinVar |
PMID:29253866 |
|
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
|
|
G |
Dsc2 |
desmocollin 2 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1S |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
|
|
G |
Dsp |
desmoplakin |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1S |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29253866 |
|
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
|
|
G |
Lama4 |
laminin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1S |
ClinVar |
|
|
NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347
|
|
G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Dilated cardiomyopathy 1S |
ClinVar |
PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 PMID:17334235 PMID:18795223 PMID:19589617 PMID:20307303 PMID:22199124 PMID:22918509 PMID:23183350 PMID:23349452 PMID:23701190 PMID:24033266 PMID:24386194 PMID:25741868 PMID:25988045 PMID:26199943 PMID:26332594 PMID:26899768 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28663758 PMID:29791652 PMID:31857427 More...
|
|
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
|
|
G |
Myh7 |
myosin heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 |
OMIM ClinVar |
PMID:1423936 PMID:1430197 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1944483 PMID:1975517 PMID:2136805 PMID:2249844 PMID:2753225 PMID:3203908 PMID:4104682 PMID:7546620 PMID:7581410 PMID:7612980 PMID:7662452 PMID:7713108 PMID:7731997 PMID:7788887 PMID:7789380 PMID:7815466 PMID:7848420 PMID:7874131 PMID:7883988 PMID:7909436 PMID:7994801 PMID:8180512 PMID:8186698 PMID:8194835 PMID:8196066 PMID:8254035 PMID:8268932 PMID:8281650 PMID:8282798 PMID:8375803 PMID:8483915 PMID:8514894 PMID:8533830 PMID:8541871 PMID:8614836 PMID:8898372 PMID:8981935 PMID:9001794 PMID:9105042 PMID:9140824 PMID:9140839 PMID:9154300 PMID:9172070 PMID:9202846 PMID:9503187 PMID:9536098 PMID:9541509 PMID:9544842 PMID:9742053 PMID:9822100 PMID:9826622 PMID:9829907 PMID:9835779 PMID:9884344 PMID:10024460 PMID:10065021 PMID:10086390 PMID:10328076 PMID:10521296 PMID:10563488 PMID:10606622 PMID:10725281 PMID:10750581 PMID:10764406 PMID:10862102 PMID:10874840 PMID:10882745 PMID:10900182 PMID:10957787 PMID:11106718 PMID:11133230 PMID:11186938 PMID:11196015 PMID:11227787 PMID:11433818 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11904418 PMID:11968089 PMID:12081993 PMID:12084606 PMID:12117842 PMID:12379228 PMID:12601548 PMID:12707239 PMID:12749056 PMID:12818575 PMID:12820698 PMID:12881443 PMID:12974739 PMID:12975413 PMID:13732753 PMID:14563299 PMID:14659406 PMID:15000344 PMID:15010274 PMID:15136674 PMID:15322983 PMID:15358028 PMID:15483641 PMID:15519027 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16199547 PMID:16253604 PMID:16267253 PMID:16352453 PMID:16504640 PMID:16630449 PMID:16684601 PMID:16754800 PMID:16858239 PMID:16918501 PMID:16938236 PMID:16983074 PMID:17019812 PMID:17125710 PMID:17180650 PMID:17336526 PMID:17351073 PMID:17372140 PMID:17438619 PMID:17476457 PMID:17548557 PMID:17560888 PMID:17576681 PMID:17612745 PMID:17947214 PMID:17987111 PMID:18029407 PMID:18258667 PMID:18374998 PMID:18380764 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18506004 PMID:18519860 PMID:18533079 PMID:18555187 PMID:18565996 PMID:18660445 PMID:18761664 PMID:18953637 PMID:19138847 PMID:19149795 PMID:19150014 PMID:19293840 PMID:19336582 PMID:19412328 PMID:19645038 PMID:19651039 PMID:19659763 PMID:19666645 PMID:19808347 PMID:19808356 PMID:19854198 PMID:19864899 PMID:19880069 PMID:20031602 PMID:20031618 PMID:20031619 PMID:20075948 PMID:20086309 PMID:20173211 PMID:20215591 PMID:20298698 PMID:20350521 PMID:20359594 PMID:20378854 PMID:20474083 PMID:20530761 PMID:20573160 PMID:20624503 PMID:20646679 PMID:20664766 PMID:20733148 PMID:20738943 PMID:20800588 PMID:20817590 PMID:20818890 PMID:20819418 PMID:20965760 PMID:20975235 PMID:20981092 PMID:21127202 PMID:21216834 PMID:21239280 PMID:21239446 PMID:21252143 PMID:21302287 PMID:21310275 PMID:21424860 PMID:21425739 PMID:21426742 PMID:21499742 PMID:21511876 PMID:21551322 PMID:21750094 PMID:21769673 PMID:21799269 PMID:21811976 PMID:21835320 PMID:21839045 PMID:21896538 PMID:21943931 PMID:21958740 PMID:21959974 PMID:22112859 PMID:22155079 PMID:22177269 PMID:22213221 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22464770 PMID:22555271 PMID:22735528 PMID:22763267 PMID:22765922 PMID:22811549 PMID:22857948 PMID:22859017 PMID:22918376 PMID:22949430 PMID:22958901 PMID:22975586 PMID:23054336 PMID:23074333 PMID:23153285 PMID:23197161 PMID:23233322 PMID:23281406 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23313350 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23426552 PMID:23508784 PMID:23549607 PMID:23580644 PMID:23674513 PMID:23690394 PMID:23707328 PMID:23711808 PMID:23751935 PMID:23782526 PMID:23785128 PMID:23794396 PMID:23816408 PMID:23861362 PMID:24033266 PMID:24038877 PMID:24047955 PMID:24055113 PMID:24093860 PMID:24111713 PMID:24119082 PMID:24183960 PMID:24268868 PMID:24298987 PMID:24498601 PMID:24503780 PMID:24510615 PMID:24621997 PMID:24664454 PMID:24691700 PMID:24704860 PMID:24714796 PMID:24758099 PMID:24793961 PMID:24829265 PMID:24835277 PMID:24865491 PMID:24888384 PMID:24928957 PMID:25031304 PMID:25078086 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25228707 PMID:25239116 PMID:25326635 PMID:25342278 PMID:25346696 PMID:25351510 PMID:25447171 PMID:25448463 PMID:25467552 PMID:25524337 PMID:25558701 PMID:25607779 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25666907 PMID:25714468 PMID:25741868 PMID:25892673 PMID:25935763 PMID:25937279 PMID:25937619 PMID:25961035 PMID:26025024 PMID:26187847 PMID:26220970 PMID:26332594 PMID:26383716 PMID:26446785 PMID:26458567 PMID:26467025 PMID:26468400 PMID:26497160 PMID:26573135 PMID:26627873 PMID:26656175 PMID:26688388 PMID:26718681 PMID:26743238 PMID:26846766 PMID:26912705 PMID:26914223 PMID:26936621 PMID:26969127 | |