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G |
Bmp4 |
bone morphogenetic protein 4 |
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IEP |
mRNA:decreased expression:mesoderm: |
RGD |
PMID:17661743 |
RGD:9068432 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
type A2 brachydactyly, OMIM:112600; type C brachydactyly, OMIM:113100, with symphalangism, DNA:point mutations:exon:R486W; R486Q |
RGD |
PMID:14523231 |
RGD:1334470 |
NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15454078 |
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NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16637051 |
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NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10631169 |
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Gpc6 |
glypican 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19481194 |
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NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
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G |
Hapln1 |
hyaluronan and proteoglycan link protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9988279 |
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NCBI chr 2:20,631,640...20,696,388
Ensembl chr 2:20,631,640...20,693,777
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G |
Hoxa11 |
homeobox A11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7596412 |
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NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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G |
Hoxd11 |
homeobox D11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7596412 PMID:7925020 PMID:8620844 |
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NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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G |
Hoxd12 |
homeo box D12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8620844 PMID:19108020 |
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NCBI chr 3:59,577,677...59,578,798
Ensembl chr 3:59,577,677...59,578,798
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G |
Hoxd13 |
homeo box D13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8620844 |
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Irf6 |
interferon regulatory factor 6 |
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ISO |
popliteal pterygium syndrome, OMIM:119500 CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17041601 PMID:12219090 |
RGD:1600214 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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G |
Lef1 |
lymphoid enhancer binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Abnormal radial ray morphology |
ClinVar |
PMID:25741868 |
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NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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G |
Sall1 |
spalt-like transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9425907 PMID:16088922 |
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NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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G |
Sall4 |
spalt-like transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30067223 |
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NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:15677727 |
RGD:12801441 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Tbx3 |
T-box transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9207801 |
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NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9217007 |
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R204Q (c.611G>A), p.R227Q (c.680G>A), p.S271T (c.812G>C) (human) |
CTD RGD |
PMID:10227294 PMID:20410354 |
RGD:11568637 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aarskog syndrome |
CTD ClinVar |
PMID:4146757 PMID:7954831 PMID:10930571 PMID:11093277 PMID:11940089 PMID:14560308 PMID:15327482 PMID:15809997 PMID:16353258 PMID:16688726 PMID:17152066 PMID:17847065 PMID:20082460 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:27959697 PMID:28492532 PMID:29276006 More...
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NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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G |
Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Aarskog syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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G |
Tbx22 |
T-box transcription factor 22 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Abruzzo-Erickson syndrome |
OMIM CTD ClinVar |
PMID:839509 PMID:22784330 PMID:25741868 |
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NCBI chr X:72,723,619...72,774,647
Ensembl chr X:72,723,617...72,774,647
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO ISS |
OMIM:200500 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acheiropodia |
OMIM MouseDO CTD ClinVar |
PMID:11090342 PMID:33863876 |
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
DNA:point mutations:CDS:p.P46L (137C>T), p.V190A (T569T>C) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acrocapitofemoral dysplasia |
CTD ClinVar OMIM RGD |
PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 PMID:12632327 More...
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RGD:1600033 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243, RGD:11567271 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
severity treatment |
ISO ISS |
ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia | ClinVar Annotator: match by term: Syndactylic oxycephaly OMIM:101200 ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly | ClinVar Annotator: match by term: Syndactylic oxycephaly DNA:missense mutation:cds:p.P253R (human) DNA:missense mutation:cds:p.A172F (human) DNA:missense mutations:cds:p.S252W, p.P253R (human) CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar MouseDO CTD RGD |
PMID:1641873 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:7989400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9502772 PMID:9521581 PMID:9536098 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10633130 PMID:10851026 PMID:10951518 PMID:11121055 PMID:11173845 PMID:11390973 PMID:11781872 PMID:11870239 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12357470 PMID:12400058 PMID:12884424 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:17694057 PMID:18541976 PMID:18552176 PMID:18618990 PMID:18726952 PMID:19186770 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27683237 PMID:28166811 PMID:28492532 PMID:28611549 PMID:30919572 PMID:31145570 PMID:270283566 PMID:10735635 PMID:23532954 PMID:17694057 PMID:9677057 PMID:7668257 More...
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RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly |
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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ISO |
SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P ClinVar Annotator: match by term: Acrocephalosyndactyly type I | ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:23354436 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:33369125 PMID:33547006 PMID:33937142 PMID:8988166 More...
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RGD:1624353 |
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Geleophysic dwarfism |
CTD ClinVar |
PMID:18677313 PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia | ClinVar Annotator: match by term: Geleophysic dwarfism CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8281141 PMID:8430317 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10679954 PMID:10694921 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:15980072 PMID:16061422 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20699357 PMID:20886638 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24199744 PMID:24311428 PMID:24339047 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25363768 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26017485 PMID:26026792 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28254189 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:33082559 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35531120 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Smad2 |
SMAD family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:28492532 |
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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G |
Dll4 |
delta like canonical Notch ligand 4 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:100300 | OMIM:614219 | OMIM:614814 | OMIM:615297 | OMIM:616028 ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD MouseDO ClinVar RGD |
PMID:26299364 PMID:29924900 PMID:33899511 |
RGD:155663357 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome DNA:mutations:cds: |
CTD ClinVar RGD |
PMID:21820096 PMID:24033266 PMID:25558065 PMID:25741868 PMID:25824905 PMID:28492532 PMID:25824905 More...
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RGD:155791566 |
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:23522784 PMID:25558065 PMID:25741868 |
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NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adams-Oliver syndrome |
CTD ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Arhgap31 |
Rho GTPase activating protein 31 |
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ISO |
ClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
OMIM ClinVar |
PMID:474617 PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29924900 More...
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NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 1 |
ClinVar |
PMID:21820096 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28492532 PMID:29924900 More...
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NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Dock6 |
dedicator of cytokinesis 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 | ClinVar Annotator: match by term: DOCK6-related condition |
OMIM ClinVar |
PMID:8849019 PMID:9536098 PMID:16199547 PMID:17159513 PMID:17576681 PMID:21820096 PMID:23522784 PMID:25091416 PMID:25558065 PMID:25741868 PMID:25824905 PMID:26457590 PMID:28135719 PMID:28492532 PMID:28884918 PMID:29924900 PMID:29961505 PMID:30111349 PMID:30293987 More...
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NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 2 |
ClinVar |
PMID:18593716 PMID:20951801 PMID:20981092 PMID:25741868 PMID:28492532 PMID:29641532 PMID:30582441 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Rbpj |
recombination signal binding protein for immunoglobulin kappa J region |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 3 |
OMIM ClinVar |
PMID:22883147 PMID:25741868 PMID:28492532 PMID:29924900 |
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NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353
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G |
Eogt |
EGF domain specific O-linked N-acetylglucosamine transferase |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 4 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23522784 PMID:23860037 PMID:25488668 PMID:25558065 PMID:25741868 PMID:28492532 PMID:29924900 PMID:31368252 PMID:31654484 PMID:34782754 More...
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NCBI chr 4:129,718,897...129,756,558
Ensembl chr 4:129,718,901...129,756,445
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G |
Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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G |
Ajm1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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G |
Arrdc1 |
arrestin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
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G |
C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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G |
Ccdc183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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G |
Cimip2a |
ciliary microtubule inner protein 2A |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
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G |
Clic3 |
chloride intracellular channel 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Cysrt1 |
cysteine rich tail 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
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G |
Dipk1b |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
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G |
Dph7 |
diphthamide biosynthesis 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982
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G |
Dpp7 |
dipeptidylpeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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G |
Edf1 |
endothelial differentiation-related factor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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G |
Fcnb |
ficolin B |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151
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G |
Fut7 |
fucosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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G |
Gpsm1 |
G-protein signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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G |
Lcn1 |
lipocalin 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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G |
Lcn10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
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G |
Lcn12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
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G |
Lcn6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
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G |
Lcn8 |
lipocalin 8 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
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G |
Lcn9 |
lipocalin 9 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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G |
Lrrc26 |
leucine rich repeat containing 26 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
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G |
Mamdc4 |
MAM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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G |
Mir126a |
microRNA 126a |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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G |
Mrpl41 |
mitochondrial ribosomal protein L41 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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G |
Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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G |
Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
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G |
Nelfb |
negative elongation factor complex member B |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
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G |
Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
OMIM ClinVar |
PMID:1621771 PMID:3495735 PMID:4750422 PMID:9536098 PMID:12774039 PMID:15472075 PMID:15959515 PMID:16025100 PMID:16199547 PMID:16614245 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19245433 PMID:19597493 PMID:19635999 PMID:19668216 PMID:20007775 PMID:20951801 PMID:20981092 PMID:21457232 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22225590 PMID:22307742 PMID:22318994 PMID:22858860 PMID:23034536 PMID:23040356 PMID:23086750 PMID:23102684 PMID:23386033 PMID:23578328 PMID:23734977 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:24943832 PMID:25104330 PMID:25132448 PMID:25194568 PMID:25260786 PMID:25500235 PMID:25516202 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26785492 PMID:26820064 PMID:26837699 PMID:26893459 PMID:27077170 PMID:27760138 PMID:27854218 PMID:27989580 PMID:27993330 PMID:28074886 PMID:28125082 PMID:28166811 PMID:28387797 PMID:28492532 PMID:28649221 PMID:28659821 PMID:28963436 PMID:28991257 PMID:29447731 PMID:29555671 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30255099 PMID:30293987 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30675029 PMID:30919572 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:31941532 PMID:32720365 PMID:32748548 PMID:33064175 PMID:33110418 PMID:33208564 PMID:33247628 PMID:33630301 PMID:33726816 PMID:33914609 PMID:33994118 PMID:34328347 PMID:34461831 PMID:34498425 PMID:35101336 PMID:35288444 PMID:35830949 PMID:36973604 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Noxa1 |
NADPH oxidase activator 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
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G |
Npdc1 |
neural proliferation, differentiation and control, 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
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G |
Nrarp |
Notch-regulated ankyrin repeat protein |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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G |
Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
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G |
Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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G |
Olfm1 |
olfactomedin 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239
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G |
Paep |
progestagen associated endometrial protein |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
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G |
Paxx |
PAXX, non-homologous end joining factor |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
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G |
Phpt1 |
phosphohistidine phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,392,926...8,394,325
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G |
Pierce1 |
piercer of microtubule wall 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Pnpla7 |
patatin-like phospholipase domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
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G |
Ppp1r26 |
protein phosphatase 1, regulatory subunit 26 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:28492532 PMID:29907982 |
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NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073
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G |
Ptgds |
prostaglandin D2 synthase |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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G |
Rabl6 |
RAB, member RAS oncogene family-like 6 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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G |
Rnf208 |
ring finger protein 208 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
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G |
Rnf224 |
ring finger protein 224 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945
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G |
Sapcd2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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G |
Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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G |
Ssna1 |
SS nuclear autoantigen 1 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
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G |
Stpg3 |
sperm-tail PG-rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
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G |
Tmem141 |
transmembrane protein 141 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
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G |
Tmem203 |
transmembrane protein 203 |
|
ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
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G |
Tmem210 |
transmembrane protein 210 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643
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Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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Tor4a |
torsin family 4, member A |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
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G |
Tprn |
taperin |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
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Traf2 |
Tnf receptor-associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
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G |
Tubb4b |
tubulin, beta 4B class IVb |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296
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G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
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Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 PMID:29907982 More...
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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G |
Zmynd19 |
zinc finger, MYND-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 5 |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514
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Dll4 |
delta like canonical Notch ligand 4 |
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ISO |
ClinVar Annotator: match by term: Adams-Oliver syndrome 6 | ClinVar Annotator: match by term: DLL4-related condition |
OMIM ClinVar |
PMID:616589 PMID:25741868 PMID:26299364 PMID:28492532 PMID:29924900 PMID:32860008 More...
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NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 PMID:11528512 PMID:11929852 PMID:16114047 PMID:16724007 PMID:16740912 PMID:17041931 PMID:17224651 PMID:17431922 PMID:17576681 PMID:18603493 PMID:18626511 PMID:19530185 PMID:19781362 PMID:20543567 PMID:21204238 PMID:24309930 PMID:25741868 PMID:27469932 PMID:28492532 PMID:34308104 More...
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive amelia |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:31761294 PMID:31965066 |
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NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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G |
Fbn1 |
fibrillin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arachnodactyly |
CTD ClinVar |
PMID:7611299 PMID:8040326 PMID:8541880 PMID:8791520 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11143906 PMID:11700157 PMID:11826022 PMID:12203987 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16220557 PMID:16222657 PMID:16835936 PMID:16971892 PMID:17253931 PMID:17576681 PMID:17657824 PMID:17663468 PMID:17679947 PMID:18087243 PMID:18615205 PMID:19089573 PMID:19159394 PMID:19293843 PMID:19328768 PMID:19839986 PMID:21542060 PMID:21895641 PMID:21932315 PMID:22772368 PMID:22772377 PMID:24033266 PMID:24161884 PMID:24199744 PMID:25053872 PMID:25741868 PMID:26133393 PMID:28492532 PMID:29357934 PMID:31098894 PMID:37684520 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Fzd4 |
frizzled class receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
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NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Arachnodactyly |
ClinVar |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 |
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
Cep120 |
centrosomal protein 120 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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Cep126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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G |
Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
Cilk1 |
ciliogenesis associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466187 |
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NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:29620724 More...
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NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome DNA:missense mutations:cds:multiple(human) |
CTD ClinVar RGD |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25982780 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27323140 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29096039 PMID:29359448 PMID:29453417 PMID:29620724 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31413057 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33452237 PMID:33532864 PMID:33694158 PMID:33726816 PMID:33755199 PMID:33846808 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34675960 PMID:34740920 PMID:34958143 PMID:35506549 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36599940 PMID:22499340 More...
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RGD:11072153 |
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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G |
Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 More...
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
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G |
Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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G |
Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Flvcr1 |
FLVCR choline and heme transporter 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27666822 |
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NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
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G |
Fuz |
fuzzy planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Grk2 |
G protein-coupled receptor kinase 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
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NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Ift140 |
intraflagellar transport 140 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 PMID:34429528 PMID:34890546 More...
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 |
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NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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G |
Ift52 |
intraflagellar transport 52 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:27466190 PMID:28492532 PMID:29068549 |
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NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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G |
Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301500 PMID:20301601 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:29923190 PMID:30266093 PMID:30767363 PMID:33957996 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Ift81 |
intraflagellar transport 81 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:29068549 |
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NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Kiaa0586 |
KIAA0586 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy |
CTD ClinVar |
PMID:25741868 |
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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G |
Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
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Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,689,840...4,697,748
Ensembl chr 8:4,689,840...4,697,748
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Mmp12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,581,785...4,591,687
Ensembl chr 8:4,581,785...4,599,611
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Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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Mmp27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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Mmp3 |
matrix metallopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520
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Nek1 |
NIMA-related kinase 1 |
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ISO |
DNA:missense, frameshift, nonsense mutations:cds,splice junction: ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome CTD Direct Evidence: marker/mechanism DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G (human) |
ClinVar CTD RGD |
PMID:21211617 PMID:22482978 PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 PMID:22499340 PMID:21211617 More...
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RGD:11072153, RGD:11069733 |
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Rab34 |
RAB34, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Sltm |
SAFB-like, transcription modulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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NCBI chr 8:71,215,995...71,261,821
Ensembl chr 8:71,216,612...71,261,825
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G |
Smarcad1 |
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1` |
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ISS |
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MouseDO |
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NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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G |
Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:24183451 PMID:28492532 PMID:29068549 |
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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G |
Tmem123 |
transmembrane protein 123 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:4,922,077...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy |
CTD ClinVar |
PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25741905 PMID:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 PMID:36263627 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26275793 PMID:26489029 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 PMID:33875766 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Wdr35 |
WD repeat domain 35 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
CTD ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 PMID:34740920 More...
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
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NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
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G |
Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Ift140 |
intraflagellar transport 140 |
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ISS |
OMIM:208500 |
MouseDO |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Rab34 |
RAB34, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Infantile thoracic dystrophy |
CTD ClinVar |
PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Ift80 |
intraflagellar transport 80 |
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ISO ISS |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM:611263 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:20301500 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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Bag3 |
BAG cochaperone 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I |
ClinVar |
PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO ISS |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: DYNC2H1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly OMIM:613091 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25741887 PMID:25741891 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33532864 PMID:33694158 PMID:33755199 PMID:33875766 PMID:34040173 PMID:34740920 PMID:34853893 PMID:34958143 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36352425 PMID:36599940 PMID:36797717 PMID:37091781 More...
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:29068549 |
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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Fam98c |
family with sequence similarity 98, member C |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr 1:84,452,806...84,456,414
Ensembl chr 1:84,452,814...84,456,385
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Ift80 |
intraflagellar transport 80 |
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ISS |
OMIM:613091 |
MouseDO |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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Kif24 |
kinesin family member 24 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
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Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:21211617 PMID:25741868 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Tmem256 |
transmembrane protein 256 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:33532864 PMID:36263627 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26355662 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29801666 PMID:30266093 PMID:30586318 PMID:31054281 PMID:31216405 PMID:31725169 PMID:31837199 PMID:32037395 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:33875766 PMID:34295353 PMID:34529350 PMID:34906470 PMID:36909829 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Flnb |
filamin B |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 PMID:25741868 PMID:28492532 More...
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NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
ClinVar |
PMID:25045061 PMID:25741868 PMID:25817014 PMID:28492532 |
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Dvl3 |
dishevelled segment polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 |
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NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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Fzd2 |
frizzled class receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
ClinVar |
PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 PMID:30455931 PMID:35047859 More...
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NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Wnt5a |
Wnt family member 5A |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 |
OMIM ClinVar |
PMID:5771504 PMID:16602827 PMID:18414213 PMID:19918918 PMID:24716670 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29276006 PMID:30760477 More...
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NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234
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Chn1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
ClinVar |
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NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
OMIM ClinVar |
PMID:10319206 PMID:23806086 PMID:24088041 PMID:25045061 PMID:25741868 PMID:25817014 PMID:25817016 PMID:26924530 PMID:28492532 PMID:29276006 PMID:32564284 More...
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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Dvl3 |
dishevelled segment polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
ClinVar |
PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:29276006 |
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NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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G |
Fzd2 |
frizzled class receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2 |
ClinVar |
PMID:24458798 PMID:25741868 PMID:25759469 PMID:28492532 PMID:29276006 PMID:30455931 PMID:35047859 More...
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NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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Dvl3 |
dishevelled segment polarity protein 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23806086 PMID:24088041 PMID:25741868 PMID:26924530 PMID:28492532 More...
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NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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Fzd2 |
frizzled class receptor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 |
ClinVar |
PMID:29276006 |
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NCBI chr10:87,561,866...87,563,776
Ensembl chr10:87,561,326...87,565,334
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Prickle1 |
prickle planar cell polarity protein 1 |
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ISS |
OMIM:268310 |
MouseDO |
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NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO ISS |
OMIM:268310 ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human) DNA:nonsense mutation:cds:p.W749X(mouse) |
OMIM MouseDO ClinVar CTD RGD |
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 PMID:16049033 PMID:17665217 PMID:18252861 PMID:18414213 PMID:18831060 PMID:19640924 PMID:25741868 PMID:26284319 PMID:28492532 PMID:24932600 PMID:14745966 PMID:18353862 More...
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RGD:11537348, RGD:11537347, RGD:11535948 |
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Nxn |
nucleoredoxin |
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ISO |
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29276006 |
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NCBI chr10:61,109,322...61,247,578
Ensembl chr10:61,110,020...61,248,251
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Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
ClinVar |
PMID:24084572 |
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NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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Top2b |
DNA topoisomerase II beta |
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ISO |
ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ClinVar Annotator: match by term: TOP2B-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11152140 PMID:11476068 PMID:15521984 PMID:17576681 PMID:21204224 PMID:22002929 PMID:25741868 PMID:28492532 PMID:31409799 PMID:32128574 PMID:33459963 More...
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NCBI chr15:9,051,340...9,111,721
Ensembl chr15:9,051,341...9,112,085
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Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE |
OMIM CTD ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 |
OMIM ClinVar |
PMID:25691407 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 |
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Bhlha9 |
basic helix-loop-helix family, member a9 |
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ISO |
ClinVar Annotator: match by term: Gollop-Wolfgang complex |
ClinVar |
PMID:25741868 |
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NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301
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Trarg1 |
trafficking regulator of GLUT4 (SLC2A4) 1 |
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ISO |
ClinVar Annotator: match by term: Gollop-Wolfgang complex |
ClinVar |
PMID:25741868 |
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NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
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Npr3 |
natriuretic peptide receptor 3 |
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ISO |
ClinVar Annotator: match by term: Boudin-Mortier syndrome |
OMIM ClinVar |
PMID:24559625 PMID:25741868 PMID:30032985 |
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NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955
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Atrx |
ATRX, chromatin remodeler |
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ISO |
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RGD |
PMID:23892236 |
RGD:9586033 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:22374147 PMID:25741868 PMID:25758993 PMID:28492532 |
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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Chst11 |
carbohydrate sulfotransferase 11 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:29514872 |
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NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:17384641 PMID:25741868 PMID:28492532 |
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NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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Gnas |
GNAS complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12719376 |
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NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20691407 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hoxd13 |
homeo box D13 |
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ISO |
DNA:missense mutations:exon:p.S308C (923C>G), p.I314L (940A>C) (human) |
RGD |
PMID:12649808 |
RGD:12743593 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Iqce |
IQ motif containing E |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:25741868 PMID:31549751 |
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NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:10879615 PMID:11464248 PMID:11938447 PMID:11977178 PMID:15643295 PMID:15942916 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:21290976 PMID:21600797 PMID:22037353 PMID:23334425 PMID:23907647 PMID:24318677 PMID:24369413 PMID:25741868 PMID:27030597 PMID:28492532 PMID:30171907 PMID:33223529 More...
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:57,399,443...57,586,770
Ensembl chr 2:57,399,445...57,565,899
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G |
Ppp2r1a |
protein phosphatase 2 scaffold subunit A alpha |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:25741868 PMID:26168268 PMID:28492532 PMID:30755392 PMID:32901917 PMID:33106617 More...
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NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
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G |
Prmt7 |
protein arginine methyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:25741868 PMID:26437029 PMID:27718516 PMID:28492532 PMID:28902392 |
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NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
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NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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G |
Sim1 |
SIM bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
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NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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G |
Slc26a2 |
solute carrier family 26 member 2 |
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ISO |
associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human) |
RGD |
PMID:21155763 |
RGD:11072411 |
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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G |
Smad4 |
SMAD family member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22158539 |
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NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Trps1 |
transcriptional repressor GATA binding 1 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:11112658 PMID:18946009 PMID:24502542 PMID:25741868 PMID:25792522 PMID:28468609 PMID:28492532 PMID:30541476 More...
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NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
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G |
Tulp1 |
TUB like protein 1 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly |
ClinVar |
PMID:15024725 PMID:19339744 PMID:23847139 PMID:24265693 PMID:28492532 PMID:31549751 More...
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NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO |
DNA:missense mutation:cds:c.1195C>T(human) |
RGD |
PMID:20683927 |
RGD:12437076 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO ISS |
DNA:missense mutations:CDS:p.E95K (283G>A), p.D100E (300C>A), p.E131K (391G>A) (human) ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar Annotator: match by term: IHH-related condition OMIM:112500 CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.E95G (284A>G) (human) DNA:deletion, missense mutation:exon:p.E95del (c.283_285delGAG), p.D100E (c.300C>G) (human) DNA:missense mutation:exon:p.158R>C (c.472C>T) (human) DNA:deletion:exon:p.E95del (c.283_285delGAG) (human) DNA:missense mutations:exon:p.R128Q (c.383G>A), p.T130N (c.389C>A) (human) DNA:missense mutation: :p.N100D (298G>A) (human) DNA:missense mutation: :p.T154I (461C>T) (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:11455389 PMID:12384778 PMID:12525541 PMID:12566523 PMID:14043746 PMID:15886999 PMID:16871364 PMID:17486609 PMID:18794898 PMID:19252479 PMID:19277064 PMID:25741868 PMID:28492532 PMID:35846898 PMID:11455389 PMID:12525541 PMID:25696018 PMID:19464397 PMID:18629882 PMID:19277064 PMID:12384778 PMID:16871364 More...
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RGD:1600032, RGD:12910974, RGD:11535949, RGD:12910970, RGD:12910965, RGD:12910964, RGD:12910945, RGD:12910944 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:15841179 |
RGD:12798572 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO ISS |
OMIM:615072 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brachydactyly type A1C |
OMIM MouseDO CTD ClinVar |
PMID:9288098 PMID:20683927 PMID:25741868 |
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NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Brachydactyly type A1D CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:25758993 |
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Bmp2 |
bone morphogenetic protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Type A2 brachydactyly |
OMIM CTD ClinVar |
PMID:19327734 PMID:21357617 PMID:25741868 PMID:28492532 |
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NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Bmpr1b |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Type A2 brachydactyly CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:14523231 PMID:15805157 PMID:16199547 PMID:16957682 PMID:17576681 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:28492532 PMID:31769494 PMID:35034853 More...
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NCBI chr 2:230,538,252...230,871,077
Ensembl chr 2:230,541,558...230,871,368
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO ISS |
ClinVar Annotator: match by term: Type A2 brachydactyly OMIM:112600 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8589725 PMID:9288091 PMID:12121354 PMID:12357473 PMID:16014698 PMID:16127465 PMID:18203755 PMID:21976273 PMID:25741868 PMID:27577507 PMID:28492532 More...
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NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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G |
Hoxd13 |
homeo box D13 |
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ISO |
DNA:deletion:exon:p.A53_A59del (c.157_177del) (human) |
RGD |
PMID:17236141 |
RGD:12738470 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Ror2 |
receptor tyrosine kinase-like orphan receptor 2 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly type B1 | ClinVar Annotator: match by term: ROR2-related condition CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:cds:c.2278C>T, p.Q760X (human) DNA:deletion:exon:c.1396-1398delAA, (human) DNA:missense mutation:cds:c.2265C>A,p.Y755X(human) DNA:deletion mutation:exon:c.2243delC,p.W749fsX24(human) DNA:mutation:c.2273C>A; p.S758X (human) |
OMIM ClinVar CTD RGD |
PMID:641944 PMID:9536098 PMID:10700182 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:12919145 PMID:16199547 PMID:17101003 PMID:17576681 PMID:17665217 PMID:18252861 PMID:18414213 PMID:19461659 PMID:19533773 PMID:25741868 PMID:26284319 PMID:28492532 PMID:33937263 PMID:23238279 PMID:24954533 PMID:21377971 PMID:19461659 PMID:25696018 More...
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RGD:11537345, RGD:11535953, RGD:11535952, RGD:11535951, RGD:11535949 |
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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G |
Nog |
noggin |
no_association |
ISO |
ClinVar Annotator: match by term: Brachydactyly type B2 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.G92E(human) DNA:mutations:cds: |
OMIM ClinVar CTD RGD |
PMID:9851982 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 PMID:17668388 PMID:18440889 PMID:25741868 PMID:28492532 PMID:29159868 PMID:34008892 PMID:22529972 PMID:17668388 More...
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RGD:12801483, RGD:12801481 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO ISS |
ClinVar Annotator: match by term: Brachydactyly type C OMIM:113100 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.M173V(517A>G)(human) DNA:missense mutations:cds:p.T201P,p.L263P (human) DNA:missense mutation:cds:c.527T>C(p.L176P)(human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:8589725 PMID:9024575 PMID:9288091 PMID:12121354 PMID:12357473 PMID:12567410 PMID:13953230 PMID:14735582 PMID:16957682 PMID:18203755 PMID:18283415 PMID:25741868 PMID:27577507 PMID:28492532 PMID:14735582 PMID:25092592 PMID:23812741 More...
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RGD:12738202, RGD:12738200, RGD:12437083 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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G |
Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly type D | ClinVar Annotator: match by term: STUB THUMB CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12620993 PMID:12649808 PMID:16314414 PMID:24239177 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly syndrome type E |
ClinVar |
PMID:11486037 PMID:25741868 PMID:33537682 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly type E1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12414828 PMID:12620993 PMID:12649808 PMID:16314414 PMID:22233338 PMID:24239177 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Pthlh |
parathyroid hormone-like hormone |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brachydactyly type E2 |
OMIM CTD ClinVar |
PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 PMID:31283647 More...
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24715439 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hoxd13 |
homeo box D13 |
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ISO |
DNA:nonsense mutation:exon:p.R274X (c.820C>T) (human) |
RGD |
PMID:22233338 |
RGD:12743596 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly-syndactyly syndrome | ClinVar Annotator: match by term: Brachydactyly-syndactyly-oligodactyly syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17236141 PMID:22233338 PMID:23995701 PMID:24239177 PMID:25741868 |
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Hmgb1 |
high mobility group box 1 |
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ISO |
ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia |
ClinVar |
PMID:20661588 |
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NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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G |
Prg4 |
proteoglycan 4 |
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ISO |
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10545950 PMID:25741868 PMID:29397575 PMID:32860008 |
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NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
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G |
Tpr |
translocated promoter region, nuclear basket protein |
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ISO |
ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
ClinVar |
PMID:25741868 PMID:29397575 |
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NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16199547 PMID:16766665 PMID:16841094 PMID:17033969 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:24864036 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:27139183 PMID:28230213 PMID:28252636 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss |
OMIM CTD ClinVar RGD |
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:32581362 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:36192182 PMID:24468074 More...
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RGD:11576280 |
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 |
OMIM ClinVar |
PMID:25741868 PMID:33058759 |
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NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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G |
Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
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ISO |
ClinVar Annotator: match by term: Cardioacrofacial dysplasia 2 |
OMIM ClinVar |
PMID:25741868 PMID:33058759 |
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NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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G |
Pitx1 |
paired-like homeodomain 1 |
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ISO |
ClinVar Annotator: match by term: Liebenberg syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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G |
Bag2 |
BAG cochaperone 2 |
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ISO |
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
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NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:201000 | OMIM:614976 ClinVar Annotator: match by term: Carpenter syndrome |
CTD MouseDO ClinVar |
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NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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Rab23 |
RAB23, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
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NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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G |
Bag2 |
BAG cochaperone 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
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NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
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G |
Rab23 |
RAB23, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition |
OMIM ClinVar |
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:27872624 PMID:28213671 PMID:28492532 More...
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NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
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Actmap |
actin maturation protease |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
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G |
Akt2 |
AKT serine/threonine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Axl |
Axl receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
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G |
B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
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G |
Blvrb |
biliverdin reductase B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
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C1h19orf47 |
similar to human chromosome 19 open reading frame 47 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
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G |
Ccdc97 |
coiled-coil domain containing 97 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
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G |
Cd79a |
CD79a molecule |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
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G |
Ceacam15 |
CEA cell adhesion molecule 15 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
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G |
Ceacam4 |
CEA cell adhesion molecule 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
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G |
Ceacam6 |
CEA cell adhesion molecule 6 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
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G |
Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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G |
Cnfn |
cornifelin |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
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G |
Coq8b |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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G |
Cyp2a1 |
cytochrome P450, family 2, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
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G |
Cyp2a3 |
cytochrome P450, family 2, subfamily a, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
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G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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G |
Cyp2f4 |
cytochrome P450, family 2, subfamily f, polypeptide 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
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G |
Cyp2s1 |
cytochrome P450, family 2, subfamily s, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
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G |
Dedd2 |
death effector domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
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G |
Dll3 |
delta like canonical Notch ligand 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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G |
Dmac2 |
distal membrane arm assembly component 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
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G |
Dmrtc2 |
DMRT-like family C2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
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G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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G |
Egln2 |
egl-9 family hypoxia-inducible factor 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
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G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,538,274...83,539,599
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G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
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G |
Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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G |
Erich4 |
glutamate-rich 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
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G |
Exosc5 |
exosome component 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
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G |
Fbl |
fibrillarin |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
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G |
Fcgbp |
Fc gamma binding protein |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
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G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
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G |
Gsk3a |
glycogen synthase kinase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
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G |
Hipk4 |
homeodomain interacting protein kinase 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
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G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U-like 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
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G |
Itpkc |
inositol-trisphosphate 3-kinase C |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
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G |
Lgals5 |
galectin 5 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
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G |
Lipe |
lipase E, hormone sensitive type |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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G |
Lypd4 |
Ly6/Plaur domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
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G |
Map3k10 |
mitogen activated protein kinase kinase kinase 10 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 More...
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NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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G |
Mia |
MIA SH3 domain containing |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
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G |
Numbl |
NUMB-like, endocytic adaptor protein |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
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G |
Pafah1b3 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
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G |
Pld3 |
phospholipase D family, member 3 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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G |
Pou2f2 |
POU class 2 homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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G |
Prr19 |
proline rich 19 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
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G |
Prx |
periaxin |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
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G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
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G |
Rabac1 |
Rab acceptor 1 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
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G |
Rps16 |
ribosomal protein S16 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
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G |
Rps19 |
ribosomal protein S19 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
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G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
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G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
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G |
Shkbp1 |
Sh3kbp1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
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G |
Sptbn4 |
spectrin, beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
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G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
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G |
Tmem91 |
transmembrane protein 91 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
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G |
Ttc9b |
tetratricopeptide repeat domain 9B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
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G |
Zfp11 |
zinc finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
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G |
Zfp526 |
zinc finger protein 526 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
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G |
Zfp574 |
zinc finger protein 574 |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
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G |
Znf780b |
zinc finger protein 780B |
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ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
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G |
Kynu |
kynureninase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME |
ClinVar |
PMID:25741868 PMID:31923704 PMID:33942433 |
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NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488
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G |
Tgds |
TDP-glucose 4,6-dehydratase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome |
OMIM CTD ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 PMID:28422407 PMID:28492532 PMID:31769200 PMID:31833187 More...
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NCBI chr15:95,175,064...95,195,555
Ensembl chr15:95,174,608...95,195,554
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO |
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII | ClinVar Annotator: match by term: Syndactyly type 7 ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 PMID:12868467 PMID:14577675 PMID:16199547 PMID:17576681 PMID:18978656 PMID:20381006 PMID:21471202 PMID:23636941 PMID:24234652 PMID:24924585 PMID:25119311 PMID:25741868 PMID:26751728 PMID:28492532 PMID:28559208 PMID:34857885 More...
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NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Child syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 PMID:18414213 PMID:18825599 PMID:19906044 PMID:25093865 PMID:25526675 PMID:25741868 PMID:26459993 PMID:28492532 PMID:34787337 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Chitayat syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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G |
Hdac6 |
histone deacetylase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
OMIM CTD ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
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NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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G |
Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 PMID:16195396 PMID:16674562 PMID:17089422 PMID:18223281 PMID:19132250 PMID:19715471 PMID:23560673 PMID:24560896 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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G |
Aars1 |
alanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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G |
Atp2b1 |
ATPase plasma membrane Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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G |
Bltp1 |
bridge-like lipid transfer protein family member 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 PMID:29290337 PMID:31680349 |
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NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20004762 |
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NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) |
RGD |
PMID:21254355 |
RGD:11576307 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: Congenital Talipes Equinovarus |
ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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G |
Fkbp8 |
FKBP prolyl isomerase 8 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612
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G |
Flnb |
filamin B |
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ISO |
DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) |
RGD |
PMID:27395407 |
RGD:12791025 |
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Gli3 |
GLI family zinc finger 3 |
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IEP |
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RGD |
PMID:19925654 |
RGD:12738235 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Hoxd12 |
homeo box D12 |
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ISO |
DNA:SNP:5' utr:rs847154 (human) |
RGD |
PMID:16331564 |
RGD:12743594 |
NCBI chr 3:59,577,677...59,578,798
Ensembl chr 3:59,577,677...59,578,798
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G |
Hoxd13 |
homeo box D13 |
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ISO |
DNA:SNP:exon:rs13392701 (human) |
RGD |
PMID:16331564 |
RGD:12743594 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19147669 |
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NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16936070 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY |
ClinVar |
PMID:25741868 |
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NCBI chr14:76,833,179...76,911,304
Ensembl chr14:76,835,637...76,913,641
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G |
Pitx1 |
paired-like homeodomain 1 |
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ISO ISS |
OMIM:119800 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot | ClinVar Annotator: match by term: PITX1-related condition |
OMIM MouseDO CTD ClinVar |
PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 |
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NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Ret |
ret proto-oncogene |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital Talipes Equinovarus |
ClinVar |
PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 PMID:17483490 PMID:18253926 PMID:21911697 PMID:22473935 PMID:25741868 PMID:28492532 PMID:30611313 More...
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NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Congenital Talipes Equinovarus |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:2128891 PMID:20037587 PMID:20037588 PMID:21288981 PMID:21454511 PMID:24319099 PMID:24789864 PMID:25741868 PMID:28492532 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Bilateral talipes equinovarus |
ClinVar |
PMID:23861362 PMID:25741868 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Unc13c |
unc-13 homolog C |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223
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G |
Vangl1 |
VANGL planar cell polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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G |
Wapl |
WAPL cohesin release factor |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr16:10,005,520...10,075,270
Ensembl chr16:10,004,941...10,073,510
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO ISS |
ClinVar Annotator: match by term: Coffin-Siris syndrome CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD |
PMID:22426308 PMID:25741868 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
DNA:frameshift,nonsense mutations, haploinsufficiency:cds: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar RGD |
PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 PMID:28492532 PMID:24674232 More...
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RGD:11526783 |
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Kdm8 |
lysine demethylase 8 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability |
CTD ClinVar |
PMID:18414213 PMID:22426308 PMID:28512736 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:24448499 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:26744134 PMID:27701467 PMID:28492532 PMID:28875981 PMID:29641532 PMID:29758562 PMID:33680622 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 PMID:24933152 PMID:28492532 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22426308 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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G |
Sox11 |
SRY-box transcription factor 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coffin-Siris syndrome |
CTD ClinVar |
PMID:25741868 PMID:26543203 |
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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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G |
Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
ClinVar |
PMID:22426308 PMID:25168959 PMID:25741868 |
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO ISS |
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES OMIM:135900 ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23160955 PMID:23815551 PMID:23906836 PMID:23929686 PMID:24033266 PMID:24674232 PMID:25217958 PMID:25249037 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25473036 PMID:25533962 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:26506440 PMID:26822237 PMID:27391121 PMID:27474218 PMID:27570168 PMID:27824329 PMID:28323383 PMID:28492532 PMID:28708303 PMID:29286531 PMID:29758562 PMID:30349098 PMID:30459321 PMID:30504930 PMID:30587507 PMID:31132234 PMID:31164752 PMID:31530938 PMID:31618753 PMID:32860008 PMID:33098347 PMID:33619735 PMID:33768696 PMID:34374989 PMID:34706719 PMID:35904121 More...
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 PMID:29429572 |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 PMID:25741868 PMID:26353884 PMID:26467025 PMID:27701467 PMID:28166811 PMID:28492532 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Sox4 |
SRY-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 10 |
OMIM ClinVar |
PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 |
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NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Smarcd1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 11 |
OMIM ClinVar |
PMID:25741868 PMID:30879640 |
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NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
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Bicra |
BRD4 interacting chromatin remodeling complex associated protein |
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ISO |
ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 |
OMIM ClinVar |
PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 |
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NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
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Actn4 |
actinin alpha 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533 PMID:28492532 More...
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NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
OMIM ClinVar |
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:24728327 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:28492532 PMID:30123105 PMID:32888375 PMID:34942405 PMID:35353340 More...
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NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Hr |
HR, lysine demethylase and nuclear receptor corepressor |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 |
ClinVar |
PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 |
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NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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Derl3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Mmp11 |
matrix metallopeptidase 11 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar |
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NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
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Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 |
ClinVar OMIM |
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 PMID:31273213 PMID:31759698 PMID:33024572 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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ISO |
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 PMID:23637025 PMID:23929686 PMID:24448499 PMID:24658001 PMID:24658002 PMID:24658004 PMID:24728327 PMID:25058500 PMID:25168959 PMID:25169753 PMID:25231023 PMID:25275049 PMID:25326635 PMID:25741868 PMID:25918285 PMID:26353884 PMID:26467025 PMID:26580448 PMID:26744134 PMID:26901136 PMID:27701467 PMID:27930734 PMID:28135719 PMID:28202063 PMID:28492532 PMID:28518168 PMID:28873162 PMID:28875981 PMID:28973083 PMID:29095814 PMID:29338072 PMID:29641532 PMID:29758562 PMID:30029678 PMID:30111351 PMID:30973214 PMID:31097095 PMID:31216405 PMID:31470906 PMID:31530938 PMID:31785789 PMID:31827798 PMID:31874108 PMID:32376391 PMID:32461654 PMID:32686290 PMID:33558524 PMID:33680622 PMID:34813034 PMID:34906459 PMID:35047860 PMID:36474027 PMID:37460928 PMID:38177409 More...
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NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 5 |
ClinVar OMIM |
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 6 |
OMIM ClinVar |
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947 PMID:29698805 PMID:30838730 More...
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 7 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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Smarcc2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 |
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ISO |
ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition |
OMIM ClinVar |
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 PMID:30580808 More...
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NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
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Sox11 |
SRY-box transcription factor 11 |
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ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 |
OMIM ClinVar |
PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 PMID:31292255 PMID:32860008 PMID:33086258 PMID:33785884 PMID:35341651 PMID:35642566 PMID:35938035 More...
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NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cold-induced sweating syndrome |
CTD ClinVar |
PMID:20186812 PMID:25741868 |
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Klhl7 |
kelch-like family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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G |
Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
OMIM ClinVar |
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24073352 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:27976805 PMID:28492532 PMID:31497877 PMID:35699517 More...
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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G |
Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 |
ClinVar |
PMID:25741868 PMID:27392078 |
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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G |
Clcf1 |
cardiotrophin-like cytokine factor 1 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 |
OMIM ClinVar |
PMID:16782820 PMID:20400119 PMID:25741868 |
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NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Cold-induced sweating syndrome 3 | ClinVar Annotator: match by term: KLHL7-related condition | ClinVar Annotator: match by term: PERCHING syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 PMID:31953236 PMID:35670385 PMID:35699517 More...
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NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Bhlha9 |
basic helix-loop-helix family, member a9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Camptosynpolydactyly, complex |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301
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Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9605585 PMID:9714438 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 PMID:16199547 PMID:16531736 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24585410 PMID:24833718 PMID:24899048 PMID:25046119 PMID:25326635 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:27196565 PMID:28166811 PMID:28383543 PMID:28492532 PMID:28518168 PMID:28831199 PMID:29501612 PMID:29742989 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30029678 PMID:30675029 PMID:31096651 PMID:31316167 PMID:31506931 PMID:32123317 PMID:32277046 PMID:32461654 PMID:32534992 PMID:32702406 PMID:33340101 PMID:33435129 PMID:33571691 PMID:33638605 PMID:33895855 PMID:34008892 PMID:34355836 PMID:35360850 PMID:35419902 PMID:11754102 More...
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RGD:1300364 |
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11940089 |
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NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple |
RGD |
PMID:25394172 |
RGD:11098154 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Lmna |
lamin A/C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15996213 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Pthlh |
parathyroid hormone-like hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20170896 |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11462173 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Adamtsl2 |
ADAMTS-like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Hoxa13 |
homeo box A13 |
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ISO |
hand-foot-genital syndrome, OMIM:140000 DNA,protein:point_mutation:CDS:Trp369Ter |
RGD |
PMID:9020844 |
RGD:1599526 |
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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L1cam |
L1 cell adhesion molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7920660 |
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Lmna |
lamin A/C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15996213 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Pax3 |
paired box 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14556253 |
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NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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G |
Pthlh |
parathyroid hormone-like hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20170896 |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Sox9 |
SRY-box transcription factor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19639023 |
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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G |
Tfap2b |
transcription factor AP-2 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10802654 |
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NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520
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G |
Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11462173 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome | ClinVar Annotator: match by term: WDPCP-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:29588463 PMID:33046855 More...
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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Nalcn |
sodium leak channel, non-selective |
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ISO |
ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:23749988 PMID:24075186 PMID:25683120 PMID:25741868 PMID:25864427 PMID:26763878 PMID:26938784 PMID:27473021 PMID:27633718 PMID:27681385 PMID:28327206 PMID:28333917 PMID:28454995 PMID:28492532 PMID:30167850 PMID:32618095 PMID:32668698 PMID:32698188 More...
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NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26424790 |
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NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Hoxd10 |
homeo box D10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: Rocker-bottom foot deformity |
OMIM CTD ClinVar |
PMID:15146389 PMID:16450407 PMID:25741868 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
DNA:nonsense mutation:exon:p.R643X (1927 C>T) (human) |
RGD |
PMID:16874813 |
RGD:12738209 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Culler-Jones syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:23408573 PMID:25741868 PMID:28492532 PMID:30629636 PMID:31292255 More...
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Cant1 |
calcium activated nucleotidase 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION OMIM:251450 | OMIM:615777 |
CTD ClinVar MouseDO |
PMID:19853239 PMID:25741868 PMID:28492532 |
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION |
CTD ClinVar |
PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 |
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Cant1 |
calcium activated nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31587486 PMID:31988067 PMID:32907608 PMID:34270679 More...
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NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109
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Cep20 |
centrosomal protein 20 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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Nomo1 |
Nodal modulator 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 |
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NCBI chr 1:96,505,460...96,556,280
Ensembl chr 1:96,505,484...96,556,279
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Desbuquois dysplasia 1 |
ClinVar |
PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28085539 PMID:28229453 PMID:28462984 PMID:28492532 PMID:30554721 PMID:31785789 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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G |
Xylt1 |
xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 |
OMIM ClinVar |
PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 PMID:30554721 More...
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NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly |
OMIM CTD ClinVar |
PMID:4056805 PMID:8179305 PMID:11891693 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21964574 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 More...
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I |
ClinVar |
PMID:30777867 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Myh8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I |
ClinVar |
PMID:25741868 |
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NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I |
ClinVar |
PMID:11738357 PMID:17339586 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:18789687 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22832343 PMID:23401156 PMID:23678273 PMID:23689010 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:27726070 PMID:27854218 PMID:28492532 PMID:29068549 PMID:30545627 PMID:32092148 More...
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Aptx |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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G |
Aqp3 |
aquaporin 3 (Gill blood group) |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Aqp7 |
aquaporin 7 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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G |
Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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G |
Atosb |
atos homolog B |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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G |
B4galt1 |
beta-1,4-galactosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
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Bag1 |
BAG cochaperone 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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Car9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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G |
Ccin |
calicin |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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G |
Cd72 |
Cd72 molecule |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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G |
Chmp5 |
charged multivesicular body protein 5 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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G |
Cimip2b |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Clta |
clathrin, light chain A |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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G |
Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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G |
Cntnap1 |
contactin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 |
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NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
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G |
Creb3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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G |
Dcaf12 |
DDB1 and CUL4 associated factor 12 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
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G |
Dctn3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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G |
Dnaja1 |
DnaJ heat shock protein family (Hsp40) member A1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
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G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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G |
Enho |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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G |
Exosc3 |
exosome component 3 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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G |
Fam219a |
family with sequence similarity 219, member A |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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G |
Fam221b |
family with sequence similarity 221, member B |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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G |
Fancg |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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G |
Fbxo10 |
F-box protein 10 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
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G |
Frmpd1 |
FERM and PDZ domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
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G |
Galt |
galactose-1-phosphate uridylyltransferase |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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G |
Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
Glipr2 |
GLI pathogenesis-related 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
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G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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G |
Grhpr |
glyoxylate and hydroxypyruvate reductase |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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G |
Hint2 |
histidine triad nucleotide binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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G |
Hrct1 |
histidine rich carboxyl terminus 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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G |
Kif24 |
kinesin family member 24 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
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G |
Melk |
maternal embryonic leucine zipper kinase |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:30777867 |
|
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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G |
Myh8 |
myosin heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:25741868 |
|
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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G |
Myorg |
myogenesis regulating glycosidase |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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G |
Ndufb6 |
NADH:ubiquinone oxidoreductase subunit B6 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
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G |
Nfx1 |
nuclear transcription factor, X-box binding 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
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G |
Nol6 |
nucleolar protein 6 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
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G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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G |
Nudt2 |
nudix hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
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G |
Or13c7 |
olfactory receptor family 13 subfamily C member 7 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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G |
Or13j1 |
olfactory receptor family 13 subfamily J member 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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G |
Pax5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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G |
Polr1e |
RNA polymerase I subunit E |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
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G |
Prss3 |
serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
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G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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G |
Rig1 |
RNA sensor RIG-1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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G |
Rnf38 |
ring finger protein 38 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
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G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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G |
Smu1 |
SMU1, DNA replication regulator and spliceosomal factor |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
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G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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G |
Spata31f1 |
SPATA31 subfamily F member 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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|
G |
Spata31g1 |
SPATA31 subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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G |
Spink4 |
serine peptidase inhibitor, Kazal type 4 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
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|
G |
Spmip6 |
sperm microtubule inner protein 6 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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G |
Tmem215 |
transmembrane protein 215 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
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G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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G |
Tomm5 |
translocase of outer mitochondrial membrane 5 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
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G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 PMID:17194691 PMID:17339586 PMID:17576681 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:18789687 PMID:19047562 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22749895 PMID:22832343 PMID:22980765 PMID:23401156 PMID:23678273 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24214167 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:26752647 PMID:27726070 PMID:27854218 PMID:28492532 PMID:29068549 PMID:30545627 PMID:31966463 PMID:32092148 PMID:33060286 More...
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Trmt10b |
tRNA methyltransferase 10B |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
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G |
Ubap1 |
ubiquitin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
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G |
Ubap2 |
ubiquitin-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
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G |
Ube2r2 |
ubiquitin-conjugating enzyme E2R 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
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G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Zbtb5 |
zinc finger and BTB domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
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G |
Zcchc7 |
zinc finger CCHC-type containing 7 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
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G |
Mybpc1 |
myosin binding protein C1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B |
OMIM CTD ClinVar |
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 PMID:25741868 PMID:26287277 PMID:28492532 More...
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NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
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G |
Myl11 |
myosin light chain 11 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C |
OMIM ClinVar |
PMID:25741868 PMID:32707087 |
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NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome |
OMIM CTD ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 PMID:27714920 PMID:27843126 PMID:28492532 PMID:30285720 PMID:31680123 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Digitorenocerebral syndrome |
OMIM ClinVar |
PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24729539 PMID:24729547 PMID:24824130 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27281533 PMID:27502353 PMID:27541164 PMID:27669036 PMID:28292732 PMID:28428906 PMID:28492532 PMID:28663785 PMID:28726039 PMID:29100083 PMID:30335140 PMID:31112829 PMID:31216405 PMID:31257402 PMID:31780880 PMID:32004315 PMID:33063868 PMID:33229591 PMID:33619735 PMID:33986365 PMID:34020146 More...
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NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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G |
Cdh3 |
cadherin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CDH3-related condition | ClinVar Annotator: match by term: EEM syndrome |
OMIM CTD ClinVar |
PMID:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 PMID:17576681 PMID:25741868 PMID:27386845 PMID:28041643 PMID:28492532 PMID:29620724 PMID:32581362 More...
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NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
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G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 |
OMIM CTD ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 More...
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NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
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G |
Tp63 |
tumor protein p63 |
susceptibility |
ISO ISS |
DNA:frameshift mutation, missense mutations: :multiple OMIM:604292 ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A) |
MouseDO ClinVar CTD OMIM RGD |
PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:31050217 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
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RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Cdx2 |
caudal type homeo box 2 |
|
ISO |
ClinVar Annotator: match by term: Sirenomelia |
ClinVar |
PMID:25741868 |
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NCBI chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142
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G |
Wnt3 |
Wnt family member 3 |
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ISO |
tetra-amelia, OMIM:273395 |
RGD |
PMID:14872406 |
RGD:1599852 |
NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 |
OMIM CTD ClinVar |
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 |
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NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Eiken skeletal dysplasia | ClinVar Annotator: match by term: Eiken syndrome |
CTD ClinVar OMIM RGD |
PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 PMID:15525660 More...
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RGD:12910707 |
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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G |
En1 |
engrailed homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Endove syndrome, limb-brain type |
ClinVar OMIM |
PMID:33568816 |
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NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brunner Winter syndrome | ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome |
CTD ClinVar |
PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 PMID:20301770 PMID:21224895 PMID:21532573 PMID:25741868 PMID:28492532 PMID:30573562 PMID:30655312 PMID:33442900 More...
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: MYCN-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO ISS |
OMIM:613630 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cocoon syndrome |
OMIM MouseDO CTD ClinVar |
PMID:20961246 |
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NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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G |
Ank2 |
ankyrin 2 |
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ISO |
ClinVar Annotator: match by term: Du pan syndrome |
ClinVar |
PMID:228900 PMID:258150 |
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NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO ISS |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du pan syndrome OMIM:228900 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:T1322C (p.L441P)(human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:12121354 PMID:16014698 PMID:16127465 PMID:17384641 PMID:18629880 PMID:21976273 PMID:25741868 PMID:28492532 PMID:12121354 More...
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RGD:12437084 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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G |
Ckap2l |
cytoskeleton associated protein 2-like |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Filippi syndrome |
OMIM CTD ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: flatfoot |
ClinVar |
PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 PMID:15642848 PMID:16615913 PMID:18550408 PMID:18925671 PMID:24398345 PMID:24602495 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Pes planus |
ClinVar |
PMID:20564469 PMID:24161884 PMID:25741868 PMID:28492532 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: flatfoot |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32333447 |
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NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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G |
Hoxd10 |
homeo box D10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15146389 PMID:16450407 PMID:24239177 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: flatfoot |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Kcna6 |
potassium voltage-gated channel subfamily A member 6 |
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ISO |
ClinVar Annotator: match by term: flatfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 4:159,542,941...159,576,189
Ensembl chr 4:159,542,615...159,576,189
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G |
Sh3pxd2b |
SH3 and PX domains 2B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BORRONE DERMATOCARDIOSKELETAL SYNDROME | ClinVar Annotator: match by term: Frank-Ter Haar syndrome | ClinVar Annotator: match by term: Megalocornea, multiple skeletal anomalies, and developmental delay |
OMIM CTD ClinVar |
PMID:7158646 PMID:8484415 PMID:15523657 PMID:20137777 PMID:22509100 PMID:23140272 PMID:24105366 PMID:25741868 PMID:28492532 PMID:29276006 PMID:31931872 PMID:31978614 More...
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NCBI chr10:16,918,611...17,027,499
Ensembl chr10:16,918,679...17,005,170
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar MouseDO |
PMID:12766769 PMID:16199547 PMID:17163535 PMID:18671281 PMID:25741868 PMID:28492532 PMID:28844315 PMID:34246755 More...
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NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Frem1 |
Fras1 related extracellular matrix 1 |
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ISS |
OMIM:219000 |
MouseDO |
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NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar MouseDO |
PMID:17163535 PMID:18203166 PMID:25741868 PMID:26552811 PMID:28492532 |
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISS |
OMIM:219000 |
MouseDO |
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: FRAS1-related condition | ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar OMIM RGD |
PMID:9536098 PMID:12766769 PMID:16199547 PMID:16894541 PMID:17163535 PMID:17576681 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26302956 PMID:26893459 PMID:27280866 PMID:27859469 PMID:27884173 PMID:28492532 PMID:28844315 PMID:29261186 PMID:30639323 PMID:31308072 PMID:31319225 PMID:31738409 PMID:31923588 PMID:31999076 PMID:32436246 PMID:32488952 PMID:33726816 PMID:34246755 PMID:34906515 PMID:34974531 PMID:35005812 PMID:12766769 More...
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RGD:1598960 |
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18203166 PMID:25741868 PMID:26275891 PMID:26552811 PMID:28492532 More...
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NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Frem2 |
FRAS1 related extracellular matrix 2 |
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IAGP ISO |
ClinVar Annotator: match by term: FREM2-related condition | ClinVar Annotator: match by term: Fraser syndrome 2 |
ClinVar OMIM RGD |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:24700879 PMID:25741868 PMID:26275891 PMID:26489029 PMID:26552811 PMID:28492532 PMID:29618029 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:30838450 PMID:34837691 PMID:36360262 PMID:21756877 PMID:23336369 More...
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RGD:13464328, RGD:126781714 |
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
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G |
Frem2fpl |
Fras1 related extracellular matrix protein 2;fpl mutant |
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IAGP |
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RGD |
PMID:21756877 PMID:23336369 |
RGD:13464328, RGD:126781714 |
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G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
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G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:24426771 PMID:28492532 |
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NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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G |
Aspa |
aspartoacylase |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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G |
Bclaf1 |
BCL2-associated transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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G |
Borcs6 |
BLOC-1 related complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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G |
Gnb5 |
G protein subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
OMIM ClinVar |
PMID:21383172 PMID:22510445 PMID:24033266 PMID:24357607 PMID:25741868 PMID:26539891 PMID:28492532 More...
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
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G |
Med23 |
mediator complex subunit 23 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
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G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr 1:52,437,745...52,449,399
Ensembl chr 1:52,437,741...52,449,400
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G |
Myo18b |
myosin XVIIIb |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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G |
Odad1 |
outer dynein arm docking complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Spata22 |
spermatogenesis associated 22 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
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NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
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G |
Tlcd3a |
TLC domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
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G |
Wdr81 |
WD repeat domain 81 |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
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G |
Zxda |
zinc finger, X-linked, duplicated A |
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ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
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NCBI chr X:59,760,871...59,766,010
Ensembl chr X:59,763,210...59,765,903
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G |
Flna |
filamin A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
CTD ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations: :multiple (human) |
CTD RGD |
PMID:27426733 |
RGD:11552867 |
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 DNA:missense mutations, deletions:cds:multiple (human) |
OMIM ClinVar RGD |
PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 PMID:16417552 PMID:16596676 PMID:16822260 PMID:16835913 PMID:18414213 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30986657 PMID:35000503 PMID:16835913 More...
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RGD:11063279 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Map3k7 |
mitogen activated protein kinase kinase kinase 7 |
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ISO |
ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 |
OMIM ClinVar |
PMID:25741868 PMID:25899317 PMID:27426733 PMID:28492532 |
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NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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G |
Wnt7a |
Wnt family member 7A |
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ISO ISS |
OMIM:228930 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fuhrmann syndrome |
OMIM MouseDO CTD ClinVar |
PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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G |
Adamtsl2 |
ADAMTS-like 2 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
PMID:7738200 PMID:7870075 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8988160 PMID:9150726 PMID:9338588 PMID:9399842 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10694921 PMID:11524736 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12161601 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15598221 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:18435798 PMID:19012347 PMID:19059503 PMID:19161152 PMID:19293843 PMID:19370756 PMID:19396033 PMID:19839986 PMID:20200614 PMID:20301510 PMID:21683322 PMID:21883168 PMID:21895641 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:24033266 PMID:24055113 PMID:24311428 PMID:24564502 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27146836 PMID:27153395 PMID:27245183 PMID:27274304 PMID:27582083 PMID:27647783 PMID:27906200 PMID:27959697 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28650953 PMID:28655553 PMID:29168297 PMID:29357934 PMID:29543232 PMID:30796334 PMID:31008308 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31950671 PMID:32123317 PMID:32679894 PMID:32938213 PMID:33483584 PMID:35531120 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Adamtsl2 |
ADAMTS-like 2 |
|
ISO ISS |
ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: Geleophysic dysplasia 1 OMIM:231050 |
OMIM ClinVar MouseDO |
PMID:18677313 PMID:20301776 PMID:21415077 PMID:24014090 PMID:25741868 PMID:26879370 PMID:28492532 PMID:30174453 PMID:30195254 PMID:33369194 More...
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NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554
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G |
Fbn1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 2 |
OMIM ClinVar |
PMID:627879 PMID:948948 PMID:1852206 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8541880 PMID:8653794 PMID:8723076 PMID:8791520 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:11068200 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:15980072 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20699357 PMID:20886638 PMID:21542060 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23684891 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24339047 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25142510 PMID:25326635 PMID:25363768 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26333736 PMID:26380986 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29191498 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29620724 PMID:29768367 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31350823 PMID:31536524 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32939518 PMID:33030311 PMID:33082559 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34006472 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35253369 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Geleophysic dysplasia 3 |
OMIM ClinVar |
PMID:25741868 PMID:27068007 PMID:28492532 PMID:30887145 PMID:33082559 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome |
OMIM CTD ClinVar |
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Dap3 |
death associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Grange syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
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G |
Cdk13 |
cyclin-dependent kinase 13 |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO ISS |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome | ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome, severe | ClinVar Annotator: match by term: Polysyndactyly with peculiar skull shape OMIM:175700 DNA:mutations:exon, intron:multiple DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:1879832 PMID:6641002 PMID:9302279 PMID:9536098 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:14608643 PMID:15739154 PMID:15811011 PMID:16199547 PMID:16740916 PMID:17576681 PMID:18000979 PMID:18154020 PMID:18241058 PMID:20583172 PMID:20672375 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25640679 PMID:25741868 PMID:26508445 PMID:27231705 PMID:28127823 PMID:28224613 PMID:28492532 PMID:29236091 PMID:30235038 PMID:30773290 PMID:30993914 PMID:31399769 PMID:32591344 PMID:33304378 PMID:34482537 PMID:34906502 PMID:15739154 PMID:10441342 PMID:24736735 PMID:22903559 More...
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RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Inhba |
inhibin subunit beta A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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G |
Mplkip |
M-phase specific PLK1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
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G |
Rala |
RAS like proto-oncogene A |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,092,163...47,145,192
Ensembl chr17:47,092,207...47,144,063
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G |
Sugct |
succinylCoA:glutarate-CoA transferase |
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ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:10441570 PMID:15739154 PMID:18000979 PMID:20672375 PMID:24736735 PMID:28492532 PMID:29236091 More...
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NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease |
ClinVar |
PMID:25741868 PMID:29625025 |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21515830 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24580733 PMID:24715504 PMID:24728327 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26171675 PMID:26253951 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28283864 PMID:28406602 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29230941 PMID:29634562 PMID:29684080 PMID:30210120 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30921096 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32175297 PMID:32300199 PMID:32573726 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33824467 PMID:34326862 PMID:35943490 PMID:36194927 PMID:22158539 More...
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RGD:12880042 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Hoxa13 |
homeo box A13 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias | ClinVar Annotator: match by term: Guttmacher syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24239177 PMID:25741868 PMID:28492532 |
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NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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G |
Hoxa13 |
homeo box A13 |
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ISO ISS |
hand-foot-genital syndrome, OMIM:140000 ClinVar Annotator: match by term: HFG syndrome | ClinVar Annotator: match by term: Hand-foot-genital syndrome CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 PMID:10839976 PMID:12073020 PMID:12414828 PMID:17935235 PMID:24239177 PMID:25741868 PMID:28492532 PMID:9020844 More...
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RGD:1599526 |
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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G |
Hoxa9 |
homeobox A9 |
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ISO |
ClinVar Annotator: match by term: Hand-foot-genital syndrome |
ClinVar |
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NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358
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G |
Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2007407 PMID:2733290 PMID:9500556 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11792809 PMID:11897440 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12647844 PMID:12669268 PMID:12716787 PMID:12920062 PMID:12927424 PMID:14510863 PMID:14659775 PMID:14749366 PMID:15060110 PMID:15298354 PMID:15531479 PMID:15770669 PMID:15996213 PMID:16181372 PMID:16364671 PMID:16415042 PMID:16459536 PMID:16585054 PMID:16671095 PMID:16715312 PMID:17334235 PMID:17524034 PMID:17711925 PMID:17893350 PMID:17987279 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18551513 PMID:18585512 PMID:18611980 PMID:18728124 PMID:18795223 PMID:18926329 PMID:19011997 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19574635 PMID:19622949 PMID:19638735 PMID:19859838 PMID:19875404 PMID:19882644 PMID:20130076 PMID:20160190 PMID:20307303 PMID:20497714 PMID:20625965 PMID:20848652 PMID:21479595 PMID:21520333 PMID:21831885 PMID:21840938 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22355414 PMID:22464770 PMID:22526018 PMID:22570643 PMID:22700598 PMID:23183350 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23427149 PMID:23582089 PMID:23702046 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:24001739 PMID:24002959 PMID:24033266 PMID:24058181 PMID:24108105 PMID:24375749 PMID:24503780 PMID:24623722 PMID:24846508 PMID:24943589 PMID:25025039 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25637381 PMID:25741868 PMID:25873806 PMID:25885670 PMID:26027246 PMID:26084686 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26662654 PMID:26724531 PMID:26733286 PMID:26756202 PMID:26899768 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27332903 PMID:27421120 PMID:27447704 PMID:27504462 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27650965 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27884249 PMID:27896284 PMID:28082330 PMID:28087566 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28790152 PMID:28807990 PMID:28878402 PMID:29149195 PMID:29237675 PMID:29255176 PMID:29438482 PMID:29620724 PMID:29693488 PMID:29773157 PMID:29892087 PMID:29943882 PMID:29952368 PMID:30007954 PMID:30012837 PMID:30165155 PMID:30165862 PMID:30287275 PMID:30326651 PMID:30402260 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31019283 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31447099 PMID:31476771 PMID:31514951 PMID:31744510 PMID:31829210 PMID:31836692 PMID:31977013 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32376792 PMID:32461654 PMID:32571898 PMID:32818388 PMID:32880476 PMID:33407844 PMID:33502018 PMID:33803652 PMID:33963534 PMID:34011823 PMID:34340952 PMID:34495297 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:35026164 PMID:35291351 PMID:35449878 PMID:35772917 PMID:36267857 PMID:36397776 PMID:36646731 PMID:37246508 PMID:37679847 More...
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Cerebellar cyst |
ClinVar |
PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21245082 PMID:25741868 PMID:28041643 PMID:28492532 PMID:31734136 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 PMID:15994174 PMID:16199547 PMID:16327884 PMID:16385454 PMID:17096318 PMID:17569090 PMID:17576681 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26334177 PMID:26893459 PMID:28166811 PMID:28191889 PMID:28492532 PMID:29095814 PMID:29165578 PMID:29876959 PMID:30548673 PMID:34198905 PMID:34906515 More...
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate |
OMIM ClinVar |
PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24204987 PMID:24888332 PMID:25064402 PMID:25326635 PMID:25741868 PMID:26931467 PMID:28492532 PMID:31474318 PMID:31748124 PMID:33983622 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Sall4 |
spalt-like transcription factor 4 |
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ISO |
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30067223 PMID:12843316 |
RGD:11556209 |
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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G |
Tbx5 |
T-box transcription factor 5 |
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ISO ISS |
ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition OMIM:142900 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G125R (human) DNA:missense mutations, deletion:cds:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 PMID:10077612 PMID:10077762 PMID:10842287 PMID:11183182 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12624158 PMID:12789647 PMID:12818525 PMID:14402857 PMID:15096952 PMID:15355425 PMID:15710732 PMID:15735645 PMID:16183809 PMID:16199547 PMID:16380715 PMID:16917909 PMID:17534187 PMID:17576681 PMID:18451335 PMID:18706711 PMID:19648116 PMID:20450920 PMID:20519243 PMID:21637475 PMID:21897873 PMID:22333898 PMID:24033266 PMID:24664498 PMID:25216260 PMID:25260786 PMID:25263169 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:26219450 PMID:26401820 PMID:26490186 PMID:26762269 PMID:26859351 PMID:26938784 PMID:28492532 PMID:28855715 PMID:29755943 PMID:30143665 PMID:30552424 PMID:31116477 PMID:31215120 PMID:32236096 PMID:34159885 PMID:34917776 PMID:11572777 PMID:18451335 PMID:20519243 More...
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RGD:1578428, RGD:7327219, RGD:7327217 |
NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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G |
Tgfb2 |
transforming growth factor, beta 2 |
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ISO |
ClinVar Annotator: match by term: Holt-Oram syndrome |
ClinVar |
PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 PMID:28655553 More...
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NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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G |
Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
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ISO |
ClinVar Annotator: match by term: Hydrolethalus syndrome |
ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760
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G |
Kif7 |
kinesin family member 7 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:21552264 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Pus3 |
pseudouridine synthase 3 |
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ISO |
ClinVar Annotator: match by term: Hydrolethalus syndrome |
ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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G |
Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrolethalus syndrome 1 |
OMIM CTD ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:33,912,692...33,921,760
Ensembl chr 8:33,912,692...33,921,760
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G |
Kif7 |
kinesin family member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Pus3 |
pseudouridine synthase 3 |
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ISO |
ClinVar Annotator: match by term: Hydrolethalus syndrome 1 |
ClinVar |
PMID:15843405 PMID:18648327 PMID:19400947 PMID:19656802 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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G |
Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Hydrolethalus syndrome 2 |
OMIM ClinVar |
PMID:16199547 PMID:19666503 PMID:21552264 PMID:21633164 PMID:25741868 PMID:26648833 PMID:28492532 More...
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Pde3a |
phosphodiesterase 3A |
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ISO |
ClinVar Annotator: match by term: Bilginturan syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4774535 PMID:25741868 PMID:25961942 PMID:28492532 PMID:29758562 PMID:31549136 PMID:32631253 More...
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NCBI chr 4:174,172,804...174,443,944
Ensembl chr 4:174,172,868...174,438,274
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO ISS |
ClinVar Annotator: match by term: Hypochondroplasia OMIM:146000 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.1988 A>C(p.K650T)(human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11314002 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18000903 PMID:18076102 PMID:18198189 PMID:18252861 PMID:18266238 PMID:18328977 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:22628360 PMID:22903874 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23726269 PMID:23972473 PMID:24411048 PMID:24715719 PMID:24728327 PMID:25157968 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26754866 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28181399 PMID:28230213 PMID:28492532 PMID:28763161 PMID:28777845 PMID:29593476 PMID:29595812 PMID:29620724 PMID:29681095 PMID:30138938 PMID:30355600 PMID:30681580 PMID:30692697 PMID:30753492 PMID:31048079 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33511985 PMID:33942288 PMID:36373817 PMID:36714562 PMID:18583390 More...
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RGD:11568026 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Tibia, hypoplasia or aplasia of, with polydactyly |
ClinVar |
PMID:7726219 PMID:9950363 PMID:12837695 PMID:18156157 PMID:19847792 PMID:24777739 PMID:24965254 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
DNA:point mutations:enhancer:404G>A, 404G>C (human) |
RGD |
PMID:19847792 |
RGD:12801438 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Otud6b |
OTU deubiquitinase 6B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition |
OMIM CTD ClinVar |
PMID:25741868 PMID:28343629 PMID:28492532 PMID:31147255 PMID:32181568 PMID:32924626 More...
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NCBI chr 5:28,181,992...28,214,486
Ensembl chr 5:28,023,594...28,214,334
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G |
Sall4 |
spalt-like transcription factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders |
OMIM CTD ClinVar |
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 |
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NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15793702 PMID:16957473 PMID:18034870 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:28492532 PMID:31837199 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R344G (human) |
OMIM ClinVar CTD RGD |
PMID:7581378 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8528214 PMID:8644708 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10541159 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11556600 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18552176 PMID:19066959 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:22665975 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25867380 PMID:25937001 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27481450 PMID:28492532 PMID:31145570 PMID:7874170 More...
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RGD:12801470 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Ube3b |
ubiquitin protein ligase E3B |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome | ClinVar Annotator: match by term: Oculocerebrofacial syndrome, Kaufman type OMIM:244450 |
CTD ClinVar MouseDO OMIM |
PMID:1694631 PMID:9536098 PMID:14556252 PMID:16199547 PMID:17576681 PMID:23200864 PMID:23687348 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 PMID:28492532 PMID:30792901 PMID:38177409 More...
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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G |
Gpc4 |
glypican 4 |
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ISO |
ClinVar Annotator: match by term: Keipert syndrome |
OMIM ClinVar |
PMID:4708024 PMID:25741868 PMID:30982611 |
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NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284
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G |
Mgp |
matrix Gla protein |
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ISO |
DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human) ClinVar Annotator: match by term: Keutel syndrome | ClinVar Annotator: match by term: Pulmonic stenosis brachytelephalangism and calcification of cartilages CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 PMID:9916809 More...
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RGD:1600783 |
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISS ISO |
OMIM:149730 ClinVar Annotator: match by term: Levy-Hollister syndrome |
MouseDO ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Levy-Hollister syndrome |
OMIM ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:31502745 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 |
OMIM ClinVar |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 |
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NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgf10 |
fibroblast growth factor 10 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 |
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NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
CTD ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 PMID:31502745 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome |
ClinVar |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16766665 PMID:16841094 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28483234 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:32715658 PMID:33942288 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Lmbr1 |
limb development membrane protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Laurin-Sandrow syndrome |
OMIM CTD ClinVar |
PMID:16059937 PMID:24456159 |
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Limb-mammary syndrome | ClinVar Annotator: match by term: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies DNA:deletions:exon:1693_1694delTT, 1860_1861delAA (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:9774969 PMID:11462173 PMID:16740912 PMID:17576681 PMID:18627043 PMID:24309930 PMID:25741868 PMID:28492532 PMID:32067224 PMID:11462173 More...
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RGD:11568638 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Hoxd10 |
homeo box D10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9409668 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Pcsk5 |
proprotein convertase subtilisin/kexin type 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18519639 |
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NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Elattoproteus syndrome |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome |
OMIM CTD ClinVar |
PMID:24726473 PMID:25741868 PMID:28492532 |
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15483080 PMID:15637713 PMID:15666242 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20142850 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:21157496 PMID:21209035 PMID:22446187 PMID:22500027 PMID:22773737 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26355662 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28753627 PMID:28761321 PMID:29127258 PMID:29588463 PMID:30504698 PMID:30586318 PMID:30614526 PMID:30718709 PMID:31028937 PMID:33138063 PMID:33520300 PMID:35112343 PMID:35835773 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome 13 |
OMIM ClinVar |
PMID:25741868 PMID:26123494 PMID:26595381 |
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:frameshift mutation:exon:c.5489del (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27894351 PMID:28041643 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31680349 PMID:31734136 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:35005812 PMID:35764379 PMID:35836572 PMID:36460718 PMID:37008293 PMID:17564974 PMID:17705300 More...
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RGD:11063677, RGD:11070805 |
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome |
OMIM ClinVar |
PMID:25741868 PMID:30573562 PMID:37710961 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Ccnd2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705253 PMID:29642246 |
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NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22729224 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT | ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME |
CTD ClinVar |
PMID:9536098 PMID:16357568 PMID:17576681 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 More...
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NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Armc6 |
armadillo repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,191,093...19,206,047
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Arrdc2 |
arrestin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,601,897...18,606,029
Ensembl chr16:18,601,897...18,606,029
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Borcs8 |
BLOC-1 related complex subunit 8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339
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Ccdc124 |
coiled-coil domain containing 124 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,566,745...18,572,564
Ensembl chr16:18,566,745...18,572,564
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Ccnd2 |
cyclin D2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cers1 |
ceramide synthase 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Comp |
cartilage oligomeric matrix protein |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Cope |
COPI coat complex subunit epsilon |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,114,871...19,125,076
Ensembl chr16:19,114,871...19,128,907
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Crlf1 |
cytokine receptor-like factor 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Crtc1 |
CREB regulated transcription coactivator 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381
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Ddx49 |
DEAD-box helicase 49 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,125,384...19,133,616
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Ell |
elongation factor for RNA polymerase II |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,843,775...18,891,484
Ensembl chr16:18,843,780...18,891,118
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Fkbp8 |
FKBP prolyl isomerase 8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612
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Gdf1 |
growth differentiation factor 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Gdf15 |
growth differentiation factor 15 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
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Homer3 |
homer scaffold protein 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680
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Ifi30 |
IFI30, lysosomal thiol reductase |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
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Il12rb1 |
interleukin 12 receptor subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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Insl3 |
insulin-like 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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Iqcn |
IQ motif containing N |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,716,519...18,733,971
Ensembl chr16:18,716,519...18,726,261
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Isyna1 |
inositol-3-phosphate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
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Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jund |
JunD proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
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Kcnn1 |
potassium calcium-activated channel subfamily N member 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,574,858...18,598,585
Ensembl chr16:18,585,992...18,597,482
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Klhl26 |
kelch-like family member 26 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,952,123...18,977,328
Ensembl chr16:18,952,234...18,977,328
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G |
Kxd1 |
KxDL motif containing 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
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Lrrc25 |
leucine rich repeat containing 25 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,806,888...18,813,723
Ensembl chr16:18,806,890...18,813,671
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Lsm4 |
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926
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Mast3 |
microtubule associated serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852
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Mef2b |
myocyte enhancer factor 2B |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967
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Mpv17l2 |
MPV17 mitochondrial inner membrane protein like 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,680,106...18,684,212
Ensembl chr16:18,681,826...18,684,212
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Nr2c2ap |
nuclear receptor 2C2-associated protein |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
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Pde4c |
phosphodiesterase 4C |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,690,727...18,711,555
Ensembl chr16:18,691,700...18,710,640
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Pgpep1 |
pyroglutamyl-peptidase I |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,770,563...18,782,968
Ensembl chr16:18,771,021...18,783,478
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Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 PMID:22729224 PMID:23745724 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 PMID:34170046 More...
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NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Rab3a |
RAB3A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336
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Rex1bd |
required for excision 1-B domain containing |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,922,050...18,924,521
Ensembl chr16:18,922,037...18,924,526
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Rfxank |
regulatory factor X-associated ankyrin-containing protein |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
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Rpl18a |
ribosomal protein L18A |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546
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Slc25a42 |
solute carrier family 25, member 42 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025
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Slc5a5 |
solute carrier family 5 member 5 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Ssbp4 |
single stranded DNA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,828,014...18,838,941
Ensembl chr16:18,828,054...18,838,947
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Sugp2 |
SURP and G patch domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,164,767...19,191,340
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Tmem161a |
transmembrane protein 161A |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,238,487...19,248,087
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Tmem59l |
transmembrane protein 59-like |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,941,370...18,945,381
Ensembl chr16:18,941,567...18,945,381
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Uba52 |
ubiquitin A-52 residue ribosomal protein fusion product 1 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807
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Upf1 |
UPF1, RNA helicase and ATPase |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568
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Zeb2 |
zinc finger E-box binding homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18813315 PMID:22500628 PMID:22729223 PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:25416470 PMID:25523067 PMID:25741868 PMID:28086757 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:31471318 PMID:33176815 PMID:34170046 More...
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Cep170 |
centrosomal protein 170 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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Pld5 |
phospholipase D family, member 5 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25087610 PMID:28492532 |
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Spmip3 |
sperm microtubule inner protein 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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Zbtb18 |
zinc finger and BTB domain containing 18 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 |
ClinVar |
PMID:25087610 |
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NCBI chr13:89,439,501...89,447,958
Ensembl chr13:89,439,420...89,448,862
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Ccnd2 |
cyclin D2 |
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ISO |
ClinVar Annotator: match by term: CCND2-related condition | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 |
OMIM ClinVar |
PMID:17486076 PMID:24705253 PMID:25741868 PMID:26795593 PMID:28492532 PMID:31056854 PMID:33818783 More...
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NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Macrodactyly |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
OMIM ClinVar |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20186808 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:29334594 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Bhlha9 |
basic helix-loop-helix family, member a9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction |
OMIM CTD ClinVar |
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 |
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NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301
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Mmp13 |
matrix metallopeptidase 13 |
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ISO |
DNA:missense mutations: :p.F55S, p.M72T, p.H213N (human) ClinVar Annotator: match by term: Metaphyseal anadysplasia |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:19615667 |
RGD:13204811 |
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
DNA:missense mutations: :p.M1K (c.21T>A)(human) |
RGD |
PMID:19615667 |
RGD:13204811 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant |
ClinVar |
PMID:13915518 PMID:19615667 PMID:24648384 PMID:25741868 PMID:27576021 PMID:28492532 PMID:30439533 More...
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NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Mmp9 |
matrix metallopeptidase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metaphyseal anadysplasia 2 |
OMIM CTD ClinVar |
PMID:16631427 PMID:18035073 PMID:19615667 PMID:20605480 PMID:22942228 PMID:25741868 PMID:26207422 PMID:26489027 PMID:28492532 PMID:34407464 More...
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NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10521292 PMID:10545612 PMID:11857736 PMID:16140555 PMID:19767586 PMID:20376792 PMID:22023169 PMID:23290074 PMID:24222232 PMID:24634175 PMID:25741868 PMID:28056872 PMID:28492532 PMID:28505335 PMID:29891876 More...
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Supt3h |
SPT3 homolog, SAGA and STAGA complex component |
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ISO |
ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly |
ClinVar |
PMID:23290074 |
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NCBI chr 9:15,878,296...16,206,768
Ensembl chr 9:15,868,287...16,206,706
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Rbbp8 |
RB binding protein 8, endonuclease |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Jawad syndrome |
OMIM CTD ClinVar |
PMID:18071751 PMID:21998596 PMID:24389050 PMID:25741868 PMID:27848944 PMID:28492532 PMID:32379725 More...
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NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Fgf9 |
fibroblast growth factor 9 |
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ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome |
ClinVar |
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NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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Gdf5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:missense mutation:cds:p.R438L(1313G>T)(human) |
ClinVar RGD |
PMID:16532400 |
RGD:12738199 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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Nog |
noggin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:mutation:cds:1426G>C (P.W205C)(Human) |
CTD ClinVar OMIM RGD |
PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 PMID:16532400 PMID:17609215 PMID:20503332 PMID:25741868 PMID:10080184 PMID:16151340 More...
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RGD:1600234, RGD:12801467 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Phgdh |
phosphoglycerate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
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NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
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Psat1 |
phosphoserine aminotransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Zmiz1 |
zinc finger, MIZ-type containing 1 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | ClinVar Annotator: match by term: ZMIZ1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29758562 PMID:30639322 |
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NCBI chr16:1,027,083...1,232,616
Ensembl chr16:1,027,325...1,232,597
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Fbxw11 |
F-box and WD repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31402090 |
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NCBI chr10:17,232,735...17,330,574
Ensembl chr10:17,227,181...17,330,571
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,962,440...33,992,203
Ensembl chr X:33,963,657...33,992,115
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Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome | ClinVar Annotator: match by term: SMARCA2-related BAFopathy | ClinVar Annotator: match by term: SMARCA2-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19606471 PMID:22366787 PMID:22426308 PMID:22822383 PMID:23752187 PMID:23929686 PMID:24090879 PMID:25169058 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27099726 PMID:27399259 PMID:27479843 PMID:27665729 PMID:28333917 PMID:28424519 PMID:28492532 PMID:28824374 PMID:30459321 PMID:31785789 PMID:32694869 PMID:35887114 More...
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Gja1 |
gap junction protein, alpha 1 |
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ISO ISS |
DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM:164200 | OMIM:257850 CTD Direct Evidence: marker/mechanism DNA:mutation:cd:p.G138R(mouse) DNA:missense mutation: :p.H194P (human) DNA:missense mutations, duplication:multiple (human) DNA:missense mutation:cds:p.G60S (mouse) |
ClinVar MouseDO CTD OMIM RGD |
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:14729836 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:24115525 PMID:25327171 PMID:25388818 PMID:25741868 PMID:27226478 PMID:28492532 PMID:30628995 PMID:32318302 PMID:33080786 PMID:34630166 PMID:35023121 PMID:16219735 PMID:18003637 PMID:15637728 PMID:12457340 PMID:16155213 More...
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RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gja1 |
gap junction protein, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 PMID:14974090 PMID:14981729 PMID:15108203 PMID:15192806 PMID:15757815 PMID:15879313 PMID:16378922 PMID:16709485 PMID:16813608 PMID:16816024 PMID:17509830 PMID:17901047 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19338053 PMID:19615768 PMID:19638688 PMID:20130915 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:22826718 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:23951358 PMID:24115525 PMID:24508941 PMID:25327171 PMID:25388818 PMID:25398053 PMID:25741868 PMID:26004348 PMID:26537360 PMID:27216975 PMID:27226478 PMID:28258662 PMID:28492532 PMID:29927410 PMID:30628963 PMID:30628995 PMID:30631135 PMID:30653986 PMID:30811667 PMID:31347275 PMID:32318302 PMID:32449269 PMID:33080786 PMID:34630166 PMID:35023121 More...
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Kat6b |
lysine acetyltransferase 6B |
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ISO |
DNA:mutations:cds:multiple (human) ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 PMID:22715153 PMID:23236640 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:25741872 PMID:26334766 PMID:26938784 PMID:27696664 PMID:27848944 PMID:28492532 PMID:28758091 PMID:30353918 PMID:32424177 PMID:22077973 More...
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RGD:9588484 |
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:32694869 |
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Ube3b |
ubiquitin protein ligase E3B |
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ISO |
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:42,183,756...42,230,094
Ensembl chr12:42,183,760...42,230,094
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Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, MAAT-KIEVIT-BRUNNER TYPE | ClinVar Annotator: match by term: Ohdo syndrome, X-linked DNA:missense mutations:cds:c.3443G>A (p.R1148H),c.3493T>C (p.S1165P),c.5185C>A (p.H1729N)(human) |
OMIM ClinVar RGD |
PMID:8279489 PMID:10405444 PMID:16700052 PMID:17334363 PMID:17369503 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26338144 PMID:26350204 PMID:27500536 PMID:27620904 PMID:28369444 PMID:28492532 PMID:28794916 PMID:30006928 PMID:30729724 PMID:32371413 PMID:32682435 PMID:32715471 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34079076 PMID:34573309 PMID:36271811 PMID:23395478 More...
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RGD:12910951 |
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Orofacial cleft 7 |
ClinVar |
PMID:10932188 PMID:11559849 |
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NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Osteofibrous dysplasia | ClinVar Annotator: match by term: TIBIA, BOWING OF, WITH PSEUDARTHROSIS AND PECTUS EXCAVATUM | ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 PMID:15592501 PMID:16203897 PMID:21774103 PMID:21970370 PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26637977 PMID:28259294 PMID:28492532 PMID:28975465 PMID:29641532 PMID:32830346 More...
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Flna |
filamin A |
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ISO |
DNA:deletion:cds:c.4904_4912del (human) ClinVar Annotator: match by term: Otopalatodigital syndrome spectrum disorder |
ClinVar RGD |
PMID:15654694 PMID:16596676 PMID:15654694 |
RGD:11565126 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I DNA:missense mutation:cds:p.P207L (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:3265608 PMID:6019437 PMID:10982489 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15194946 PMID:15917206 PMID:15940695 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:17264970 PMID:18414213 PMID:20301567 PMID:20979190 PMID:22465605 PMID:22522697 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300383 PMID:30143558 PMID:30986657 PMID:31942422 PMID:35000503 PMID:12612583 More...
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RGD:1598954 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16783569 |
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Andre syndrome | ClinVar Annotator: match by term: Cranio-oro-digital syndrome | ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD 2 syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Oto-palato-digital syndrome type 2 | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II DNA:missense mutation:cds:p.E254K (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 PMID:11532987 PMID:11704759 PMID:11992261 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15378534 PMID:15523633 PMID:15689435 PMID:15917206 PMID:16080119 PMID:16299064 PMID:16417552 PMID:16538226 PMID:16596676 PMID:16822260 PMID:16835913 PMID:16875750 PMID:17264970 PMID:17431908 PMID:17576681 PMID:17632775 PMID:18414213 PMID:18805826 PMID:19377476 PMID:19773341 PMID:20301567 PMID:20598277 PMID:20844545 PMID:20979190 PMID:21620354 PMID:21836662 PMID:21960593 PMID:22465605 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:28798025 PMID:30089473 PMID:30143558 PMID:30293987 PMID:30675029 PMID:30755392 PMID:30986657 PMID:31064749 PMID:31069529 PMID:31625567 PMID:31942422 PMID:32410215 PMID:32738303 PMID:33077954 PMID:33448881 PMID:34858435 PMID:35000503 PMID:36110220 PMID:12612583 More...
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RGD:1598954 |
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Mecp2 |
methyl CpG binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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Opn1mw |
opsin 1, medium wave sensitive |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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Tex28 |
testis expressed 28 |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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Tktl1 |
transketolase-like 1 |
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ISO |
ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II |
ClinVar |
PMID:15689435 PMID:16080119 PMID:28492532 |
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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Gli3 |
GLI family zinc finger 3 |
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ISO ISS |
DNA:frameshift deletions ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome OMIM:146510 DNA:mutations:exon, intron:multiple DNA:deletions CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:6641002 PMID:9054938 PMID:9148633 PMID:9536098 PMID:10441570 PMID:10945658 PMID:12545275 PMID:15739154 PMID:15811011 PMID:17576681 PMID:21532573 PMID:24736735 PMID:25741868 PMID:28492532 PMID:30773290 PMID:34482537 PMID:34906502 PMID:9054938 PMID:15739154 PMID:24736735 PMID:11978771 More...
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RGD:1599838, RGD:12738222, RGD:12738205, RGD:12738143 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
OMIM ClinVar |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 PMID:38233525 More...
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rnf32 |
ring finger protein 32 |
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ISO |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257
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Shh |
sonic hedgehog signaling molecule |
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ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9056558 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23720404 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25741868 PMID:26279204 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:30573803 PMID:31017643 PMID:31064749 PMID:34494111 More...
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NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 PMID:32238909 More...
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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B3glct |
beta 3-glucosyltransferase |
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ISO ISS |
OMIM:261540 ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism |
OMIM MouseDO ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532 PMID:32204707 More...
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NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
ClinVar Annotator: match by term: Peters plus syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29584859 |
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NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO ISS |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome | ClinVar Annotator: match by term: Pfeiffer syndrome type 1 OMIM:101600 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:16757108 PMID:16764984 PMID:16957473 PMID:17154279 PMID:18034870 PMID:18160472 PMID:18985070 PMID:20536592 PMID:20696889 PMID:23329143 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:26942290 PMID:28492532 PMID:28754744 PMID:31748124 PMID:31837199 PMID:33983622 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO ISS |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome OMIM:101600 CTD Direct Evidence: marker/mechanism DNA:mutations:CDS:multiple (human) DNA:SNPs, missense mutation:splice junction, CDS:multiple (human) |
OMIM ClinVar MouseDO CTD RGD |
PMID:7581378 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719329 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9002682 PMID:9150725 PMID:9169049 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9531645 PMID:9536098 PMID:9586546 PMID:9605588 PMID:9677057 PMID:9700203 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10541159 PMID:10633130 PMID:10851026 PMID:10874645 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11556600 PMID:11781872 PMID:11807866 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12400058 PMID:12884424 PMID:12884434 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16061565 PMID:16158432 PMID:16199547 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17525745 PMID:17576681 PMID:17803937 PMID:18541976 PMID:18552176 PMID:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20489451 PMID:20503384 PMID:20643727 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22558232 PMID:22664175 PMID:22665975 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23786770 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24036790 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25361936 PMID:25706251 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:25937001 PMID:26289989 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27028366 PMID:27079505 PMID:27228464 PMID:27481450 PMID:27683237 PMID:27803855 PMID:28492532 PMID:31145570 PMID:31754721 PMID:33074973 PMID:7795583 More...
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RGD:155782906, RGD:155663661 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Abcb6 |
ATP binding cassette subfamily B member 6 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924
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G |
Alx4 |
ALX homeobox 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9847249 |
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NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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G |
Ankzf1 |
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,688,194...76,695,162
Ensembl chr 9:76,688,194...76,696,469
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G |
Asic4 |
acid sensing ion channel subunit family member 4 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:76,941,532...76,962,900
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Atg9a |
autophagy related 9A |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,677,403...76,688,050
Ensembl chr 9:76,677,404...76,687,986
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Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:20104584 PMID:25236687 PMID:25741868 PMID:26295337 PMID:26467025 PMID:28281021 PMID:28492532 PMID:29446198 PMID:30630528 PMID:34196900 More...
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NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 |
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Chpf |
chondroitin polymerizing factor |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,963,178...76,967,878
Ensembl chr 9:76,963,184...76,967,878
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G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
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ISS |
OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596 |
MouseDO |
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NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
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G |
Cnppd1 |
cyclin Pas1/PHO80 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,633,475...76,640,164
Ensembl chr 9:76,633,477...76,640,188
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Des |
desmin |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Dnajb2 |
DnaJ heat shock protein family (Hsp40) member B2 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,731,060...76,739,278
Ensembl chr 9:76,731,065...76,739,277
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G |
Dnpep |
aspartyl aminopeptidase |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,799,931...76,808,841
Ensembl chr 9:76,783,966...76,808,716
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G |
Etv2 |
ETS variant transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:33359164 |
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NCBI chr 1:85,890,562...85,894,025
Ensembl chr 1:85,890,559...85,893,431
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G |
Glb1l |
galactosidase, beta 1-like |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,693,325...76,705,548
Ensembl chr 9:76,695,173...76,705,510
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Gli3 |
GLI family zinc finger 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperdactyly | ClinVar Annotator: match by term: Polydactylism | ClinVar Annotator: match by term: Polydactyly DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) DNA:insertion |
CTD ClinVar RGD |
PMID:10441570 PMID:17688467 PMID:25741868 PMID:28492532 PMID:14597572 PMID:25267529 PMID:17266131 PMID:10051311 More...
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RGD:12801421, RGD:12738225, RGD:12738144, RGD:12738140 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Gmppa |
GDP-mannose pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,926,724...76,934,274
Ensembl chr 9:76,926,739...76,934,269
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G |
Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar RGD |
PMID:22233338 PMID:25741868 PMID:17266131 |
RGD:12738144 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17468754 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Ift88 |
intraflagellar transport 88 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12701101 |
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NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
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G |
Inha |
inhibin subunit alpha |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15554946 |
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Kif3a |
kinesin family member 3a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17698054 |
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NCBI chr10:37,725,930...37,761,183
Ensembl chr10:37,725,970...37,759,191
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G |
Megf8 |
multiple EGF-like-domains 8 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:23063620 PMID:25741868 PMID:28914635 PMID:29168297 |
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NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
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G |
Mipol1 |
mirror-image polydactyly 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11954550 |
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NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:18327255 PMID:20301500 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 PMID:27570071 PMID:28492532 PMID:28497568 PMID:34008892 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Nhej1 |
nonhomologous end-joining factor 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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G |
Obsl1 |
obscurin like cytoskeletal adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:76,974,253...76,993,560
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17427195 |
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptprn |
protein tyrosine phosphatase, receptor type, N |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,741,010...76,756,704
Ensembl chr 9:76,741,016...76,756,190
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G |
Resp18 |
regulated endocrine-specific protein 18 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,765,179...76,771,824
Ensembl chr 9:76,764,590...76,778,722
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G |
Retreg2 |
reticulophagy regulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,640,282...76,646,400
Ensembl chr 9:76,640,319...76,646,395
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Shh |
sonic hedgehog signaling molecule |
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ISO |
DNA:point mutation:enhancer:g.106954C>T (human) |
RGD |
PMID:14597572 PMID:22903933 PMID:10021368 |
RGD:12801421, RGD:12801449, RGD:12801429 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Slc23a3 |
solute carrier family 23, member 3 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,622,621...76,633,188
Ensembl chr 9:76,622,800...76,631,366
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G |
Slc4a3 |
solute carrier family 4 member 3 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:77,036,243...77,053,940
Ensembl chr 9:77,037,016...77,049,105
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G |
Smad6 |
SMAD family member 6 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:28492532 PMID:34953066 |
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NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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G |
Speg |
striated muscle enriched protein kinase |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,865,714...76,923,170
Ensembl chr 9:76,865,754...76,923,144
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G |
Stk11ip |
serine/threonine kinase 11 interacting protein |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:77,012,297...77,027,989
Ensembl chr 9:77,012,693...77,027,873
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G |
Stk16 |
serine/threonine kinase 16 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,705,591...76,708,859
Ensembl chr 9:76,705,602...76,708,855
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G |
Tmem198 |
transmembrane protein 198 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:76,968,107...77,033,011
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G |
Tuba4a |
tubulin, alpha 4A |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
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G |
Tubd1 |
tubulin, delta 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,368,133...71,391,266
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G |
Zbtb16 |
zinc finger and BTB domain containing 16 |
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IAGP |
DNA:deletion:intron (rat) |
RGD |
PMID:19191224 |
RGD:2312786 |
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
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G |
Zbtb16Lx |
zinc finger and BTB domain containing 16, Lx mutant |
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IAGP |
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RGD |
PMID:19191224 |
RGD:2312786 |
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G |
Zfand2b |
zinc finger AN1-type containing 2B |
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ISO |
ClinVar Annotator: match by term: Polydactyly |
ClinVar |
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NCBI chr 9:76,665,466...76,668,447
Ensembl chr 9:76,665,546...76,668,445
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G |
Max |
MYC associated factor X |
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ISO |
ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome |
ClinVar OMIM |
PMID:27903915 PMID:28492532 PMID:38141607 |
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NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
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G |
Irf6 |
interferon regulatory factor 6 |
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ISO ISS |
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19734457 PMID:20803643 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 More...
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NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO ISS |
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 |
ClinVar MouseDO |
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
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ISO |
ClinVar Annotator: match by term: Miller syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33262786 More...
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NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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G |
Bcl11a |
BCL11 transcription factor A |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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G |
Efcab7 |
EF-hand calcium binding domain 7 |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 5:114,525,403...114,576,130
Ensembl chr 5:114,525,167...114,576,129
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:10441570 PMID:25741868 PMID:28492532 |
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NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly |
ClinVar |
PMID:30982135 |
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NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Postaxial polydactyly |
ClinVar |
PMID:25741868 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Atp6v1b1 |
ATPase H+ transporting V1 subunit B1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:9916796 PMID:16199547 PMID:16611712 PMID:18368028 PMID:25285676 PMID:25741868 PMID:28492532 PMID:31549751 PMID:31733597 More...
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NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
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G |
Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:17160889 PMID:23591405 PMID:25741868 PMID:28492532 PMID:30614526 |
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NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
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G |
Ccnd2 |
cyclin D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29642246 |
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NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Postaxial polydactyly type A |
CTD ClinVar |
PMID:25741868 PMID:30395363 |
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NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: GLI3-related postaxial polydactyly | ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 | ClinVar Annotator: match by term: Postaxial polydactyly type B | ClinVar Annotator: match by term: Postaxial polydactyly, type A1/B CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.K778X (human) DNA:deletion, duplication, nonsense mutation: :c.1927C>T, c.3855dupC, c.4141delA (human) |
OMIM ClinVar CTD RGD |
PMID:9354785 PMID:10441342 PMID:10441570 PMID:12794692 PMID:15739154 PMID:16199547 PMID:18000979 PMID:22428873 PMID:22903559 PMID:24736735 PMID:25741868 PMID:26508445 PMID:28315472 PMID:28492532 PMID:30773290 PMID:9354785 PMID:24667698 More...
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RGD:12738223, RGD:12738211 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Iqce |
IQ motif containing E |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:25741868 PMID:31549751 |
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NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:30982135 |
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NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A1 |
ClinVar |
PMID:25741868 |
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
RGD |
PMID:17558409 |
RGD:11073359 |
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Kiaa0825 |
KIAA0825 homolog |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type a10 |
OMIM ClinVar |
PMID:25741868 PMID:30982135 PMID:32147526 |
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NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
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G |
Iqce |
IQ motif containing E |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type a7 |
OMIM ClinVar |
PMID:25741868 PMID:28488682 PMID:31549751 |
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NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A8 |
OMIM ClinVar |
PMID:25741868 PMID:28973407 |
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NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, postaxial, type A9 |
OMIM ClinVar |
PMID:25741868 PMID:30395363 |
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NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: FROMONT ANOMALY | ClinVar Annotator: match by term: Polydactyly, preaxial I |
OMIM ClinVar |
PMID:25741868 PMID:30620395 |
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NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II |
ClinVar |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 PMID:38233525 More...
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, preaxial II |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:20569257 PMID:18463159 |
RGD:12801447, RGD:12801448 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Preaxial polydactyly 4 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:exon:p.R290X (C868T) (human) DNA:nonsense mutation, deletion: :p.R792X (c.C2374T), c.3383delA (human) |
OMIM ClinVar CTD RGD |
PMID:6641002 PMID:10441570 PMID:15739154 PMID:15811011 PMID:24736735 PMID:25741868 PMID:28492532 PMID:30773290 PMID:34906502 PMID:15811011 PMID:22903559 More...
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RGD:12738221, RGD:12738141 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Zic3 |
Zic family member 3 |
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ISO |
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RGD |
PMID:22234993 |
RGD:12738220 |
NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO ISS |
DNA:missense mutation: :p.E17K (human) ClinVar Annotator: match by term: Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly OMIM:176920 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:21793738 More...
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RGD:5509063 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Proteus-like syndrome |
CTD ClinVar |
PMID:9399897 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11748304 PMID:11918710 PMID:12471211 PMID:14518070 PMID:17392703 PMID:17427195 PMID:18558293 PMID:20301661 PMID:21956414 PMID:22381246 PMID:22595938 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23934601 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25549896 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27535533 PMID:28492532 PMID:28526761 PMID:30287823 PMID:30614812 PMID:32238909 PMID:33077954 PMID:33600059 More...
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Radiohumeral fusions with other skeletal and craniofacial anomalies |
OMIM ClinVar |
PMID:22019272 PMID:25741868 |
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NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
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G |
Recql4 |
RecQ like helicase 4 |
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ISO |
ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15221963 PMID:15897384 PMID:15964893 PMID:16199547 PMID:17250975 PMID:18504617 PMID:18716613 PMID:19291770 PMID:20113479 PMID:22885111 PMID:23238538 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25741868 PMID:25966250 PMID:26491355 PMID:27247962 PMID:28486640 PMID:28492532 PMID:29367366 PMID:29478780 PMID:29625052 PMID:31829210 PMID:32482547 PMID:33046774 PMID:33077847 PMID:33294214 More...
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NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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G |
Eif4a3 |
eukaryotic translation initiation factor 4A3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome |
OMIM CTD ClinVar |
PMID:24360810 |
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NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
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G |
Esco2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: ESCO2-related condition | ClinVar Annotator: match by term: Roberts syndrome | ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome CTD Direct Evidence: marker/mechanism DNA:deletion:exon DNA:frameshift mutations, missense mutation, nonsense mutation:multiple |
OMIM ClinVar CTD RGD |
PMID:495649 PMID:1642282 PMID:3740099 PMID:15821733 PMID:16199547 PMID:16380922 PMID:16775838 PMID:18186147 PMID:18411254 PMID:18414213 PMID:19574259 PMID:19738907 PMID:20101700 PMID:20301332 PMID:24864645 PMID:25741868 PMID:26710928 PMID:28492532 PMID:30508616 PMID:30590172 PMID:31192177 PMID:31976146 PMID:18186147 PMID:15821733 More...
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RGD:11535978, RGD:11535977 |
NCBI chr15:40,034,566...40,052,295
Ensembl chr15:40,034,568...40,055,306
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:19952666 PMID:24127277 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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G |
Dnaaf4 |
dynein axonemal assembly factor 4 |
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ISS |
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MouseDO |
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NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Dvl3 |
dishevelled segment polarity protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
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G |
Wnt5a |
Wnt family member 5A |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities |
CTD ClinVar MouseDO |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr16:3,697,032...3,718,230
Ensembl chr16:3,697,032...3,718,234
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome |
OMIM ClinVar |
PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8696350 PMID:8957519 PMID:9002682 PMID:9462761 PMID:9585583 PMID:9677057 PMID:9700203 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:18552176 PMID:20301628 PMID:20489451 PMID:20856019 PMID:21367659 PMID:21397175 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25425289 PMID:25706251 PMID:25741868 PMID:25867380 PMID:25937001 PMID:26325558 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:28492532 PMID:31145570 More...
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Saethre-Chotzen syndrome |
ClinVar |
PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9950359 PMID:10094188 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17552943 PMID:19215249 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Twist1 |
twist family bHLH transcription factor 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ACS III | ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome OMIM:101400 | OMIM:180750 |
CTD ClinVar MouseDO OMIM |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:9934984 PMID:10094188 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11748846 PMID:11754069 PMID:11854168 PMID:11977182 PMID:11992718 PMID:12116251 PMID:12791045 PMID:14513358 PMID:15099347 PMID:15923834 PMID:16251895 PMID:16838304 PMID:17651129 PMID:17693524 PMID:18391498 PMID:19373776 PMID:19483581 PMID:19755431 PMID:19952666 PMID:20184424 PMID:20643727 PMID:21520333 PMID:21876555 PMID:22382802 PMID:22544111 PMID:22982246 PMID:22995991 PMID:23527594 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741869 PMID:26114524 PMID:27884935 PMID:28369379 PMID:28492532 PMID:29037998 PMID:29304373 PMID:30074960 PMID:30450715 PMID:30651579 PMID:31754721 PMID:31837199 PMID:33369125 PMID:33547006 PMID:33937142 More...
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NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Setbp1 |
SET binding protein 1 |
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ISO |
ClinVar Annotator: match by term: SETBP1-related condition | ClinVar Annotator: match by term: Schinzel-Giedion syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21037274 PMID:21371013 PMID:23222956 PMID:23832012 PMID:24033266 PMID:25028416 PMID:25082129 PMID:25217958 PMID:25363760 PMID:25533962 PMID:25663181 PMID:25741868 PMID:25852444 PMID:26350204 PMID:26467025 PMID:27824329 PMID:28346496 PMID:28492532 PMID:31680123 PMID:32005694 PMID:32445275 PMID:32460883 PMID:33391157 PMID:33907317 PMID:34490615 PMID:34782754 PMID:36147799 More...
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Wnt7a |
Wnt family member 7A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Schinzel phocomelia syndrome |
OMIM CTD ClinVar |
PMID:16826533 PMID:20949531 PMID:21271649 PMID:21344627 PMID:25741868 |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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G |
Sost |
sclerostin |
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ISO |
DNA:transition: :69C>T (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11179006 |
RGD:68858 |
NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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G |
Sost |
sclerostin |
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ISO ISS |
ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 OMIM:269500 |
OMIM ClinVar MouseDO |
PMID:11179006 PMID:11181578 PMID:19072561 PMID:21221996 PMID:25741868 PMID:25984533 PMID:28492532 More...
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NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO ISS |
OMIM:614305 ClinVar Annotator: match by term: Sclerosteosis 2 |
OMIM MouseDO ClinVar |
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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G |
Fndc4 |
fibronectin type III domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,077,155...25,080,812
Ensembl chr 6:25,077,349...25,080,675
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G |
Gckr |
glucokinase regulator |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr 6:25,044,592...25,075,834
Ensembl chr 6:25,045,100...25,075,654
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24140113 PMID:24290075 PMID:25168386 PMID:25640679 PMID:25664603 PMID:25741868 PMID:26092869 PMID:26893459 PMID:28492532 PMID:28559085 PMID:29068549 PMID:31054281 PMID:31475041 PMID:31587445 PMID:31964843 PMID:32451492 PMID:32783370 PMID:32939031 PMID:33393400 PMID:34567078 PMID:34906470 PMID:36413997 More...
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Krtcap3 |
keratinocyte associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:11030072 PMID:16199547 PMID:17576681 PMID:24140113 PMID:25168386 PMID:25664603 PMID:25741868 PMID:28492532 PMID:33393400 PMID:34906470 More...
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NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
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Dync2i2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: DYNC2I2-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19610081 PMID:24183449 PMID:24183451 PMID:25741868 PMID:28379358 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 PMID:33578420 More...
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NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
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Sptan1 |
spectrin, alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly |
ClinVar |
PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:29068549 PMID:33578420 More...
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NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Cep120 |
centrosomal protein 120 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25251415 PMID:25361962 PMID:25741868 PMID:27208211 PMID:28492532 PMID:29847808 PMID:30866059 PMID:30988386 More...
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NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: KIAA0586-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly |
OMIM ClinVar |
PMID:2080096 PMID:9536098 PMID:17576681 PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
ClinVar |
PMID:11138003 PMID:17228349 PMID:17976197 PMID:19111681 PMID:20521169 PMID:20719861 PMID:21729603 PMID:24033266 PMID:24166850 PMID:24423340 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26077881 PMID:26813946 PMID:27884173 PMID:28492532 PMID:28521186 PMID:29055934 PMID:29353225 PMID:29886606 PMID:30528907 PMID:30833958 PMID:31060161 PMID:31392106 PMID:31589614 PMID:32041611 PMID:32088153 PMID:32862661 PMID:33217533 PMID:33269076 PMID:34268478 PMID:34304999 PMID:34887220 PMID:34969652 PMID:36229885 More...
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly |
OMIM ClinVar |
PMID:8960501 PMID:9536098 PMID:11138003 PMID:17228349 PMID:17576681 PMID:17976197 PMID:19111681 PMID:20521169 PMID:20719861 PMID:21729603 PMID:24033266 PMID:24166850 PMID:24423340 PMID:25525159 PMID:25665839 PMID:25741868 PMID:26077881 PMID:26130459 PMID:26813946 PMID:27884173 PMID:28492532 PMID:28521186 PMID:28857138 PMID:29055934 PMID:29353225 PMID:29886606 PMID:30528907 PMID:30833958 PMID:31060161 PMID:31392106 PMID:31589614 PMID:32041611 PMID:32088153 PMID:32815859 PMID:32862661 PMID:33217533 PMID:33269076 PMID:34268478 PMID:34304999 PMID:34887220 PMID:34969652 PMID:36229885 More...
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NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
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Ift52 |
intraflagellar transport 52 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:26880018 PMID:27466190 PMID:28492532 PMID:30242358 PMID:31042281 More...
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NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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Dynlt2b |
dynein light chain Tctex-type 2B |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 17 with or without polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:26044572 PMID:28492532 |
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NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
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Ift43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 18 with polydactyly |
OMIM ClinVar |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 |
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NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257
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Ift81 |
intraflagellar transport 81 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 19 with or without polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
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Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 20 with polydactyly | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic |
OMIM ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr 2:123,600,972...123,685,331
Ensembl chr 2:123,609,807...123,682,676
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Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly, digenic |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28400947 PMID:29068549 |
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34016807 PMID:34523780 PMID:34529350 More...
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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Cbr4 |
carbonyl reductase 4 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:22499340 PMID:28492532 PMID:29068549 |
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NCBI chr16:28,629,928...28,684,230
Ensembl chr16:28,617,224...28,645,712
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Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:16199547 PMID:23339108 PMID:24183451 PMID:25741868 PMID:26938784 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 More...
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:29068549 |
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NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
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Evc |
EvC ciliary complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 PMID:17024374 PMID:17576681 PMID:19810119 PMID:23220543 PMID:25741868 PMID:28492532 PMID:29068549 PMID:31028937 More...
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NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:12571802 PMID:17024374 PMID:19810119 PMID:19876929 PMID:21199751 PMID:22190900 PMID:23026208 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29068549 PMID:35927022 More...
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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Fuz |
fuzzy planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:29068549 |
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NCBI chr 1:95,379,542...95,384,532
Ensembl chr 1:95,379,587...95,384,530
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Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:24140113 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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Ift80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:19648123 PMID:28492532 PMID:29068549 PMID:30266093 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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Nek1 |
NIMA-related kinase 1 |
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ISO |
ClinVar Annotator: match by term: NEK1-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar OMIM |
PMID:3014367 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23757202 PMID:24033266 PMID:25492405 PMID:25741868 PMID:26945885 PMID:27455347 PMID:27530628 PMID:28089114 PMID:28123176 PMID:28492532 PMID:28710492 PMID:28935222 PMID:29068549 PMID:29431110 PMID:29650794 PMID:30093141 PMID:30408610 PMID:32462798 PMID:32920598 PMID:33445179 PMID:35495032 PMID:36443167 More...
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NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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Palld |
palladin, cytoskeletal associated protein |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:22499340 PMID:28492532 PMID:29068549 |
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NCBI chr16:28,228,006...28,621,349
Ensembl chr16:27,981,354...28,621,337
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Sh3rf1 |
SH3 domain containing ring finger 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:22499340 PMID:28492532 PMID:29068549 |
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NCBI chr16:28,735,522...28,901,261
Ensembl chr16:28,735,440...28,901,644
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Traf3ip1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 PMID:29068549 More...
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28870638 PMID:29068549 |
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Matn3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101
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Wdr35 |
WD repeat domain 35 |
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ISO ISS |
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short rib polydactyly syndrome 5 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly OMIM:614091 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:17935248 PMID:21473986 PMID:22486404 PMID:24033266 PMID:25741868 PMID:25908617 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:28870638 PMID:29068549 PMID:31785789 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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Dync2i1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly |
OMIM ClinVar |
PMID:9068549 PMID:9536098 PMID:17576681 PMID:23910462 PMID:24033266 PMID:25492405 PMID:25640679 PMID:25741868 PMID:28422394 PMID:28492532 PMID:29068549 PMID:30320547 More...
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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Adcy9 |
adenylate cyclase 9 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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Amdhd2 |
amidohydrolase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095
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Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Antkmt |
adenine nucleotide translocase lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193
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Arhgdig |
Rho GDP dissociation inhibitor gamma |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,219,049...15,221,257
Ensembl chr10:15,219,049...15,221,213
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Atp6v0c |
ATPase H+ transporting V0 subunit C |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
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Axin1 |
axin 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615
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G |
Baiap3 |
BAI1-associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019
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Bicdl2 |
BICD family like cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049
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G |
Bricd5 |
BRICHOS domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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C10h16orf90 |
similar to human chromosome 16 open reading frame 90 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910
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C10h16orf96 |
similar to human chromosome 16 open reading frame 96 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,707,529...10,750,893
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G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Capn15 |
calpain 15 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508
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G |
Caskin1 |
CASK interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Ccdc154 |
coiled-coil domain containing 154 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
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G |
Ccdc78 |
coiled-coil domain containing 78 |
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ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
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G |
Ccnf |
cyclin F |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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|
G |
Cdip1 |
cell death-inducing p53 target 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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G |
Chtf18 |
chromosome transmission fidelity factor 18 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
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NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050
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G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
|
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G |
Clcn7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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|
G |
Cldn6 |
claudin 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973
|
|
G |
Cldn9 |
claudin 9 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,714,137...12,715,568
|
|
G |
Cluap1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
|
|
G |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
|
|
G |
Cramp1 |
cramped chromatin regulator homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
|
|
G |
Decr2 |
2,4-dienoyl-CoA reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,104,907...15,113,281
Ensembl chr10:15,002,926...15,118,479
|
|
G |
Dnaaf8 |
dynein axonemal assembly factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
|
|
G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,854,732...10,880,171
Ensembl chr10:10,854,732...10,880,161
|
|
G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
|
|
G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
|
|
G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
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: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
|
|
G |
Elob |
elongin B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635
|
|
G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
|
|
G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
|
|
G |
Fam234a |
family with sequence similarity 234, member A |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488
|
|
G |
Fbxl16 |
F-box and leucine-rich repeat protein 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986
|
|
G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267
|
|
G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439
|
|
G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
|
|
G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
|
|
G |
Gng13 |
G protein subunit gamma 13 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083
|
|
G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
|
|
G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
|
|
G |
Haghl |
hydroxyacylglutathione hydrolase-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665
|
|
G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850
|
|
G |
Hmox2 |
heme oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
|
|
G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO ISS |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM:266920 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24183451 PMID:24698627 PMID:25640679 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:27874174 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28844315 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29706353 PMID:29758562 PMID:29801666 PMID:30479745 PMID:30773290 PMID:30902645 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34217267 PMID:34429528 PMID:34890546 PMID:34906470 PMID:36460718 More...
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|
NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
|
|
G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
|
|
G |
Jmjd8 |
jumonji domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
|
|
G |
Jpt2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170
|
|
G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209
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|
G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854
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|
G |
Lmf1 |
lipase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
|
|
G |
Luc7l |
LUC7-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,273,340...15,307,131
Ensembl chr10:15,273,348...15,303,112
|
|
G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
|
|
G |
Mcrip2 |
MAPK regulated co-repressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021
|
|
G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
|
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G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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|
G |
Metrn |
meteorin, glial cell differentiation regulator |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701
|
|
G |
Mettl26 |
methyltransferase like 26 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851
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|
G |
Mgrn1 |
mahogunin ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
|
|
G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
|
|
G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871
|
|
G |
Mrpl28 |
mitochondrial ribosomal protein L28 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581
|
|
G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
|
|
G |
Msln |
mesothelin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
|
|
G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
|
|
G |
Naa60 |
N(alpha)-acetyltransferase 60, NatF catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755
|
|
G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
|
|
G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
|
|
G |
Nlrc3 |
NLR family, CARD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398
|
|
G |
Nme3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359
|
|
G |
Nme4 |
NME/NM23 nucleoside diphosphate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,114,624...15,118,479
Ensembl chr10:15,002,926...15,118,479
|
|
G |
Nmral1 |
NmrA like redox sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
|
|
G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061
|
|
G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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|
G |
Nthl1 |
nth-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
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|
G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
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|
G |
Nudt16l1 |
nudix hydrolase 16 like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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|
G |
Or1f34 |
olfactory receptor family 1 subfamily F member 34 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801
|
|
G |
Or2c1 |
olfactory receptor family 2 subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105
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|
G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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|
G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584
|
|
G |
Pdia2 |
protein disulfide isomerase family A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931
|
|
G |
Pdpk1 |
3-phosphoinositide dependent protein kinase-1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
|
|
G |
Pgap6 |
post-GPI attachment to proteins 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,138,918...15,148,431
Ensembl chr10:15,138,959...15,148,431
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
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|
G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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|
G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995
|
|
G |
Prr35 |
proline rich 35 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,961,955...14,966,818
Ensembl chr10:14,962,162...14,964,152
|
|
G |
Prss21 |
serine protease 21 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618
|
|
G |
Prss22 |
serine protease 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863
|
|
G |
Prss27 |
serine protease 27 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322
|
|
G |
Prss33 |
serine protease 33 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281
|
|
G |
Prss41 |
serine protease 41 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552
|
|
G |
Ptx4 |
pentraxin 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
|
|
NCBI chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846
|
|
G |
Rab11fip3 |
RAB11 family interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,002,650...15,086,382
Ensembl chr10:15,002,926...15,118,479
|
|
G |
Rab26 |
RAB26, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,553,395...13,558,063
Ensembl chr10:13,553,395...13,558,030
|
|
G |
Rab40c |
Rab40c, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,900,926...14,936,153
Ensembl chr10:14,900,929...14,936,557
|
|
G |
Rgs11 |
regulator of G-protein signaling 11 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:15,222,804...15,231,062
Ensembl chr10:15,222,803...15,231,060
|
|
G |
Rhbdl1 |
rhomboid like 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430
|
|
G |
Rhot2 |
ras homolog family member T2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751
|
|
G |
Rnf151 |
ring finger protein 151 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000
|
|
G |
Rnps1 |
RNA binding protein with serine rich domain 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858
|
|
G |
Rogdi |
rogdi atypical leucine zipper |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
|
|
G |
Rpl3l |
ribosomal protein L3-like |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457
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|
G |
Rps2 |
ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163
|
|
G |
Rpusd1 |
RNA pseudouridine synthase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207
|
|
G |
Septin12 |
septin 12 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
|
|
G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
|
|
G |
Smim22 |
small integral membrane protein 22 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,572,146...10,574,339
|
|
G |
Sox8 |
SRY-box transcription factor 8 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818
|
|
G |
Spsb3 |
splA/ryanodine receptor domain and SOCS box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841
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|
G |
Srl |
sarcalumenin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
|
|
G |
Srrm2 |
serine/arginine repetitive matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751
|
|
G |
Sstr5 |
somatostatin receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,506,868...14,512,946
Ensembl chr10:14,506,868...14,512,946
|
|
G |
Stub1 |
STIP1 homology and U-box containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,850,765...14,853,046
Ensembl chr10:14,850,765...14,853,046
|
|
G |
Syngr3 |
synaptogyrin 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669
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|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
|
|
G |
Tbl3 |
transducin (beta)-like 3 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372
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G |
Tedc2 |
tubulin epsilon and delta complex 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124
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|
G |
Telo2 |
telomere maintenance 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
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|
NCBI chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698
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|
G |
Tfap4 |
transcription factor AP-4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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G |
Thoc6 |
THO complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925
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|
G |
Tmem204 |
transmembrane protein 204 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 More...
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|
NCBI chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920
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|
G |
Tnfrsf12a |
TNF receptor superfamily member 12A |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,707,077...12,709,071
Ensembl chr10:12,689,890...12,709,045
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|
G |
Tpsab1 |
tryptase alpha/beta 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811
|
|
G |
Tpsb2 |
tryptase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569
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|
G |
Tpsg1 |
tryptase gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258
|
|
G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
|
|
G |
Trap1 |
TNF receptor-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
|
|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
|
|
G |
Tsr3 |
TSR3 ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,257,161...14,259,562
Ensembl chr10:14,257,171...14,259,561
|
|
G |
Ubald1 |
UBA-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
|
|
G |
Ube2i |
ubiquitin-conjugating enzyme E2I |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443 Ensembl chr10:69,701,618...69,702,443
|
|
G |
Unkl |
unk like zinc finger |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
|
|
G |
Uqcc4 |
ubiquinol-cytochrome c reductase complex assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
|
|
NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029
|
|
G |
Vasn |
vasorin |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
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|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:25741868 PMID:33002628 PMID:33532864 |
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Wdr24 |
WD repeat domain 24 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864
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G |
Wdr90 |
WD repeat domain 90 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292
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G |
Wfikkn1 |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
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NCBI chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863
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G |
Zfp13 |
zinc finger protein 13 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,615,455...12,623,615
Ensembl chr10:12,615,190...12,623,615
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G |
Zfp174 |
zinc finger protein 174 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312
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G |
Zfp213 |
zinc finger protein 213 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,592,368...12,599,296
Ensembl chr10:12,592,368...12,599,281
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G |
Zfp263 |
zinc finger protein 263 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,764,424...11,774,324
Ensembl chr10:11,764,427...11,771,235
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G |
Zfp597 |
zinc finger protein 597 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675
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|
G |
Zfp598 |
zinc finger protein 598 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,694,224...13,706,235
Ensembl chr10:13,694,286...13,706,233
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G |
Zg16b |
zymogen granule protein 16B |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572
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G |
Zscan10 |
zinc finger and SCAN domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Saldino-Mainzer syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275
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|
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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|
G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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|
G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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|
G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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|
G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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|
G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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|
G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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|
G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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|
G |
Kifbp |
kinesin family binding protein |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome |
ClinVar |
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 PMID:32939943 More...
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NCBI chr20:30,512,899...30,532,504
Ensembl chr20:30,512,901...30,532,476
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|
G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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|
G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,648,494...166,648,582
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|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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|
G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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|
G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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|
G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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|
G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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|
G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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|
G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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|
G |
Nek9 |
NIMA-related kinase 9 |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538
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|
G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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|
G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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|
G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,462,610...165,465,213
|
|
G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
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|
G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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|
G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,723,346...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: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 PMID:21699693 PMID:23023332 PMID:23103230 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25741868 PMID:27146836 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31754721 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 PMID:38177409 More...
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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|
G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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|
G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
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: Shprintzen-Goldberg syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
|
|
|
G |
Btrc |
beta-transducin repeat containing E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:21681106 |
|
NCBI chr 1:244,210,299...244,380,126
Ensembl chr 1:244,210,314...244,376,721
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|
G |
Dlx5 |
distal-less homeobox 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
|
|
G |
Dpcd |
deleted in primary ciliary dyskinesia |
|
ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:21681106 |
|
NCBI chr 1:244,408,766...244,426,891
Ensembl chr 1:244,408,785...244,426,888
|
|
G |
Fbxw4 |
F-box and WD repeat domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:21681106 |
|
NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163
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|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Lbx1 |
ladybird homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:21681106 |
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NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690
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G |
Lef1 |
lymphoid enhancer binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
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G |
Map3k20 |
mitogen-activated protein kinase kinase kinase 20 |
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ISS ISO |
ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY |
MouseDO ClinVar |
PMID:26755636 |
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NCBI chr 3:57,130,539...57,289,943
Ensembl chr 3:57,130,551...57,289,626
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G |
Plaa |
phospholipase A2, activating protein |
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ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:16199547 PMID:25741868 PMID:28492532 PMID:30755392 |
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NCBI chr 5:109,428,600...109,460,373
Ensembl chr 5:109,428,265...109,460,282
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G |
Poll |
DNA polymerase lambda |
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ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:21681106 |
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NCBI chr 1:244,400,202...244,408,762
Ensembl chr 1:244,400,204...244,408,662
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G |
Tlx1 |
T-cell leukemia, homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:21681106 |
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NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation |
ClinVar |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Uba2 |
ubiquitin-like modifier activating enzyme 2 |
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ISO |
ClinVar Annotator: match by term: Ectrodactyly |
ClinVar |
PMID:25741868 PMID:34040189 |
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NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
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G |
Dlx5 |
distal-less homeobox 5 |
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ISO ISS |
OMIM:183600 ClinVar Annotator: match by term: Split hand-foot malformation 1 |
OMIM MouseDO ClinVar |
PMID:24496061 PMID:25196357 PMID:25741868 |
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NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
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G |
Dlx6 |
distal-less homeobox 6 |
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ISS |
OMIM:183600 |
MouseDO |
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NCBI chr 4:34,984,264...34,989,926
Ensembl chr 4:34,984,232...34,991,343
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G |
Map3k20 |
mitogen-activated protein kinase kinase kinase 20 |
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ISO |
ClinVar Annotator: match by term: Split-hand/foot malformation 1 |
ClinVar |
PMID:26755636 |
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NCBI chr 3:57,130,539...57,289,943
Ensembl chr 3:57,130,551...57,289,626
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G |
Dlx5 |
distal-less homeobox 5 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss |
OMIM CTD ClinVar |
PMID:22121204 |
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NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
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G |
Fbxw4 |
F-box and WD repeat domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163
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G |
Tp63 |
tumor protein p63 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4 CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R227Q (c.680G>A) (human) DNA:missense mutation, nonsense mutation, splice-site mutation: :p.K193E, p.Q634X (human) |
OMIM ClinVar CTD RGD |
PMID:3366140 PMID:9536098 PMID:10535733 PMID:10839977 PMID:12161593 PMID:12525544 PMID:15736220 PMID:16688749 PMID:16740912 PMID:17224651 PMID:17576681 PMID:18626511 PMID:18792980 PMID:20543567 PMID:21078104 PMID:21211247 PMID:21652629 PMID:23355676 PMID:23463580 PMID:24309930 PMID:25741868 PMID:28293528 PMID:28492532 PMID:29620206 PMID:31050217 PMID:34008892 PMID:23736768 PMID:11462173 More...
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RGD:11568644, RGD:11568638 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Agps |
alkylglycerone phosphate synthase |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830
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G |
Atf2 |
activating transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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G |
Atp5mc3 |
ATP synthase membrane subunit c locus 3 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279
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G |
Cdca7 |
cell division cycle associated 7 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:57,322,718...57,333,353
Ensembl chr 3:57,322,708...57,333,353
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G |
Chn1 |
chimerin 1 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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G |
Cir1 |
corepressor interacting with RBPJ, 1 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,158,923...58,188,799
Ensembl chr 3:58,158,951...58,188,789
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G |
Cybrd1 |
cytochrome b reductase 1 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,934,874...55,962,132
Ensembl chr 3:55,934,874...55,962,108
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G |
Dcaf17 |
DDB1 and CUL4 associated factor 17 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,863,776...55,895,601
Ensembl chr 3:55,863,799...55,891,820
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G |
Dlx1 |
distal-less homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,356,190...56,360,780
Ensembl chr 3:56,356,190...56,360,780
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G |
Dlx2 |
distal-less homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,370,238...56,373,581
Ensembl chr 3:56,370,483...56,373,597
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G |
Dync1i2 |
dynein cytoplasmic 1 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,033,882...56,085,080
Ensembl chr 3:56,033,917...56,085,080
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G |
Erich2 |
glutamate-rich 2 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,310,993...55,347,701
Ensembl chr 3:55,310,993...55,347,184
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G |
Evx2 |
even-skipped homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,558,197...59,562,267
Ensembl chr 3:59,558,197...59,561,872
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G |
Gad1 |
glutamate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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G |
Gorasp2 |
golgi reassembly stacking protein 2 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,474,448...55,503,570
Ensembl chr 3:55,474,757...55,503,576
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G |
Gpr155 |
G protein-coupled receptor 155 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,216,422...58,270,350
Ensembl chr 3:58,216,423...58,270,275
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G |
Hat1 |
histone acetyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,217,344...56,265,021
Ensembl chr 3:56,217,342...56,275,517
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G |
Hnrnpa3 |
heterogeneous nuclear ribonucleoprotein A3 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:60,578,574...60,588,755
Ensembl chr 3:60,578,673...60,588,306
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G |
Hoxd1 |
homeo box D1 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,665,629...59,667,769
Ensembl chr 3:59,665,629...59,667,769
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G |
Hoxd10 |
homeo box D10 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Hoxd11 |
homeobox D11 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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G |
Hoxd12 |
homeo box D12 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,577,677...59,578,798
Ensembl chr 3:59,577,677...59,578,798
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G |
Hoxd13 |
homeo box D13 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Hoxd3 |
homeo box D3 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,638,708...59,650,282
Ensembl chr 3:59,638,708...59,650,282
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G |
Hoxd4 |
homeo box D4 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,614,464...59,634,042
Ensembl chr 3:59,614,464...59,631,528
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G |
Hoxd8 |
homeobox D8 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,607,793...59,610,359
Ensembl chr 3:59,607,996...59,610,361
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G |
Hoxd9 |
homeo box D9 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,600,575...59,602,755
Ensembl chr 3:59,600,575...59,602,754
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G |
Ift70a2 |
intraflagellar transport 70A2 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:60,899,193...60,901,634
Ensembl chr 3:60,899,196...60,901,634
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G |
Ift70b |
intraflagellar transport 70B |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:60,855,809...60,858,380
Ensembl chr 3:60,855,575...60,858,389
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G |
Itga6 |
integrin subunit alpha 6 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,604,512...56,689,428
Ensembl chr 3:56,617,268...56,689,428
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G |
Lnpk |
lunapark, ER junction formation factor |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,418,872...59,487,029
Ensembl chr 3:59,424,286...59,486,518
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G |
Map3k20 |
mitogen-activated protein kinase kinase kinase 20 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:57,130,539...57,289,943
Ensembl chr 3:57,130,551...57,289,626
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G |
Metap1d |
methionyl aminopeptidase type 1D (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,279,471...56,354,518
Ensembl chr 3:56,279,493...56,351,981
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G |
Mettl8 |
methyltransferase 8, tRNA N3-cytidine |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,731,453...55,863,652
Ensembl chr 3:55,770,167...55,863,676
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G |
Mir10b |
microRNA 10b |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,628,438...59,628,546
Ensembl chr 3:59,628,438...59,628,546
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G |
Mtx2 |
metaxin 2 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Ola1 |
Obg-like ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:57,966,896...58,085,955
Ensembl chr 3:57,966,896...58,084,480
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G |
Pde11a |
phosphodiesterase 11A |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158
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G |
Pdk1 |
pyruvate dehydrogenase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,705,824...56,733,040
Ensembl chr 3:56,705,871...56,733,038
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G |
Rapgef4 |
Rap guanine nucleotide exchange factor 4 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,809,388...57,101,332
Ensembl chr 3:56,809,270...57,102,316
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G |
Scrn3 |
secernin 3 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,188,820...58,213,623
Ensembl chr 3:58,188,889...58,213,623
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G |
Slc25a12 |
solute carrier family 25 member 12 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
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G |
Sp3 |
Sp3 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:57,811,855...57,857,150
Ensembl chr 3:57,812,075...57,860,342
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G |
Sp5 |
Sp5 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,274,931...55,277,733
Ensembl chr 3:55,274,931...55,277,733
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G |
Sp9 |
Sp9 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,146,826...58,149,357
Ensembl chr 3:58,146,826...58,149,357
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G |
Tlk1 |
tousled-like kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:55,503,358...55,691,968
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G |
Wipf1 |
WAS/WASL interacting protein family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 5 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:58,314,521...58,416,668
Ensembl chr 3:58,314,542...58,372,742
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G |
Wnt10b |
Wnt family member 10B |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 6 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:12072797 PMID:18515319 PMID:20635353 PMID:25741868 PMID:28492532 PMID:31050392 More...
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NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892
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G |
Map3k20 |
mitogen-activated protein kinase kinase kinase 20 |
|
ISO |
ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:26755636 PMID:28492532 PMID:30237576 PMID:31130284 |
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NCBI chr 3:57,130,539...57,289,943
Ensembl chr 3:57,130,551...57,289,626
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G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301
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G |
Trarg1 |
trafficking regulator of GLUT4 (SLC2A4) 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
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G |
Ankfn1 |
ankyrin-repeat and fibronectin type III domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes |
ClinVar |
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NCBI chr10:74,214,143...74,602,825
Ensembl chr10:74,218,915...74,663,295
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G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes |
OMIM ClinVar |
PMID:9851982 PMID:10069712 PMID:10080184 PMID:11160400 PMID:11545688 PMID:11857750 PMID:12089654 PMID:17668388 PMID:18440889 PMID:25741868 PMID:26474326 PMID:28492532 PMID:38177409 More...
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NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Aggf1 |
angiogenic factor with G patch and FHA domains 1 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952
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G |
Cdh20 |
cadherin 20 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
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NCBI chr13:20,737,640...21,069,746
Ensembl chr13:20,738,081...21,068,676
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G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30395363 |
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NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
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G |
Csnk2b |
casein kinase 2 beta |
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ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744 |
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NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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G |
Dll3 |
delta like canonical Notch ligand 3 |
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ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 PMID:29459493 More...
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NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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G |
Fbn2 |
fibrillin 2 |
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ISO |
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RGD |
PMID:11285249 |
RGD:1300320 |
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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G |
Fzd4 |
frizzled class receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
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NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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G |
Gdf5 |
growth differentiation factor 5 |
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ISO |
DNA:insertion:cds: |
RGD |
PMID:18984342 |
RGD:12738203 |
NCBI chr 3:144,454,316...144,458,508
Ensembl chr 3:144,454,338...144,458,612
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Gli3 |
GLI family zinc finger 3 |
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ISO |
DNA:missense mutation:exon:p.H601R (c.1802A>G) (human) ClinVar Annotator: match by term: polysyndactyly |
ClinVar RGD |
PMID:25267529 |
RGD:12738225 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Hoxd13 |
homeo box D13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Irf6 |
interferon regulatory factor 6 |
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ISO |
popliteal pterygium syndrome, OMIM:119500 |
RGD |
PMID:12219090 |
RGD:1600214 |
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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G |
Jag2 |
jagged canonical Notch ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9531541 |
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NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
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G |
Lrp2 |
LDL receptor related protein 2 |
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ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Lrp4 |
LDL receptor related protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16207730 |
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NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
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NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
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ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
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G |
Rab19 |
RAB19, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
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NCBI chr 4:68,157,159...68,166,889
Ensembl chr 4:68,156,881...68,166,886
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
DNA:duplications |
RGD |
PMID:21167467 |
RGD:12910956 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Nhej1 |
nonhomologous end-joining factor 1 |
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ISO |
ClinVar Annotator: match by term: Syndactyly type 1 |
ClinVar |
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NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 3 |
OMIM CTD ClinVar |
PMID:2157843 PMID:11470490 PMID:14729836 PMID:15192806 PMID:18079109 PMID:21215473 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:25741868 PMID:28492532 More...
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 4 |
OMIM CTD ClinVar |
PMID:1849351 PMID:18417549 PMID:19847792 |
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Gja1 |
gap junction protein, alpha 1 |
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ISO |
ClinVar Annotator: match by term: Syndactyly type 5 |
ClinVar |
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: Syndactyly type 5 | ClinVar Annotator: match by term: Syndactyly, type V DNA:missense mutation:exon:p.Q317R (c.950A>G) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:215242 PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 PMID:24239177 PMID:25741868 PMID:28492532 PMID:17236141 More...
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RGD:12738470 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Fgf16 |
fibroblast growth factor 16 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Syndactyly type 8 |
OMIM CTD ClinVar |
PMID:23709756 PMID:24878828 |
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NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717
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G |
Ccnq |
cyclin Q |
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ISO |
ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8818947 PMID:18297069 PMID:25741868 |
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
OMIM CTD ClinVar |
PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 PMID:19557432 PMID:19685083 PMID:20949628 PMID:21340693 PMID:22052794 PMID:22978696 PMID:23227324 PMID:23841782 PMID:24429398 PMID:25741868 PMID:28492532 PMID:31063268 More...
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Cdkn3 |
cyclin-dependent kinase inhibitor 3 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,022,522...20,033,948
Ensembl chr15:20,022,664...20,033,945
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G |
Cgrrf1 |
cell growth regulator with ring finger domain 1 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,088,564...20,109,042
Ensembl chr15:20,088,571...20,109,037
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G |
Cnih1 |
cornichon family member 1 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,037,885...20,049,857
Ensembl chr15:20,037,885...20,049,761
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G |
Gch1 |
GTP cyclohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Gmfb |
glia maturation factor, beta |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,069,923...20,081,005
Ensembl chr15:20,067,263...20,080,331
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G |
Samd4a |
sterile alpha motif domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies |
ClinVar |
PMID:18252212 PMID:21340693 PMID:28492532 |
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NCBI chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380
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G |
Hoxd13 |
homeo box D13 |
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ISS ISO |
OMIM:186000 | OMIM:608180 | OMIM:610234 ClinVar Annotator: match by term: Synpolydactyly |
MouseDO ClinVar |
PMID:22233338 PMID:25741868 |
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Chst11 |
carbohydrate sulfotransferase 11 |
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ISO |
ClinVar Annotator: match by term: Synpolydactyly type 1 |
ClinVar |
PMID:29514872 |
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NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111
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G |
Hoxd13 |
homeo box D13 |
severity |
ISO |
DNA:duplication:CDS ClinVar Annotator: match by term: Synpolydactyly type 1 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation:exon:p.R186X (c.556C¿¿¿>¿¿¿T) (human) DNA:insertion:exon DNA:missense mutation:exon:p.R298Q (c.893G>A) (human) DNA:missense mutation:exon:p.I314L (940A>C) (human) DNA:splice-site mutation:intron:c.781+1G>A (human) DNA:nonsense mutation:exon:p.Q248X (c.742C>T) (human) DNA:missense mutation:exon:p.G220A (c.659G>C) (human) |
ClinVar OMIM CTD RGD |
PMID:215242 PMID:7666393 PMID:8620844 PMID:8817328 PMID:9207113 PMID:9758628 PMID:12414828 PMID:12900906 PMID:14698619 PMID:15333588 PMID:15917204 PMID:16222680 PMID:18399101 PMID:19060004 PMID:21814222 PMID:22233338 PMID:22373878 PMID:22374128 PMID:23948678 PMID:24055421 PMID:24239177 PMID:24789103 PMID:25741868 PMID:28492532 PMID:30408610 PMID:8817328 PMID:27254532 PMID:9207113 PMID:22374128 PMID:12620993 PMID:24055421 PMID:21814222 PMID:11543619 PMID:15952114 PMID:23948678 More...
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RGD:1599534, RGD:12743595, RGD:12743592, RGD:11098998, RGD:12738399, RGD:11098055, RGD:11098032, RGD:12738377, RGD:12738375, RGD:11098288 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Fbln1 |
fibulin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES |
OMIM CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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G |
Dync1h1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:25741868 PMID:26392352 PMID:26633542 PMID:28492532 PMID:30122514 PMID:34368388 PMID:35606327 More...
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NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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G |
Gars1 |
glycyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:28492532 |
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NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:28492532 |
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NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
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NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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G |
Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 PMID:10737979 PMID:11437164 PMID:12221176 PMID:12477701 PMID:20215982 PMID:20461396 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29136549 PMID:29687021 PMID:31211173 PMID:31372974 More...
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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G |
Nefl |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:18023247 PMID:19286384 PMID:20421365 PMID:21168446 PMID:21493625 PMID:23230147 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28501821 PMID:31211173 PMID:31574566 More...
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NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 |
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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G |
Rbm10 |
RNA binding motif protein 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: TARP syndrome |
OMIM CTD ClinVar |
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 PMID:28492532 PMID:30462380 PMID:32812661 More...
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NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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G |
Nog |
noggin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human) |
OMIM CTD ClinVar RGD |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:17668388 PMID:25741868 PMID:28492532 PMID:29159868 PMID:26211601 More...
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RGD:12801450 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
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ISO |
ClinVar Annotator: match by term: Teebi hypertelorism syndrome |
ClinVar |
PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 PMID:28492532 PMID:30472488 PMID:31953237 More...
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NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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G |
Mid1 |
midline 1 |
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ISO |
ClinVar Annotator: match by term: Opitz-Frias syndrome |
ClinVar |
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25304119 PMID:25741868 PMID:25874572 PMID:27749392 PMID:28492532 PMID:29456483 PMID:32926417 More...
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NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
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ISO ISS |
ClinVar Annotator: match by term: SPECC1L-related condition | ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 OMIM:145420 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:3228142 PMID:25412741 PMID:25741868 PMID:28492532 PMID:30472488 PMID:31953237 PMID:32954677 More...
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NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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G |
Cdh11 |
cadherin 11 |
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ISO |
ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 |
ClinVar OMIM |
PMID:33811546 |
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NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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G |
Chsy1 |
chondroitin sulfate synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome |
OMIM CTD ClinVar |
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 PMID:15864382 PMID:16417552 PMID:16822260 PMID:17152064 PMID:17576681 PMID:18414213 PMID:20301567 PMID:20598277 PMID:22522697 PMID:25614868 PMID:25741868 PMID:26059211 PMID:26061098 PMID:26467025 PMID:28492532 PMID:30561107 PMID:30986657 PMID:31919883 PMID:35000503 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Wnt3 |
Wnt family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Tetraamelia syndrome 1 |
OMIM CTD ClinVar |
PMID:14872406 |
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NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099
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G |
Rspo2 |
R-spondin 2 |
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ISO |
ClinVar Annotator: match by term: Tetraamelia syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29769720 |
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NCBI chr 7:74,096,378...74,239,398
Ensembl chr 7:74,103,090...74,238,933
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO ISS |
ClinVar Annotator: match by term: Thanatophoric dwarfism OMIM:187600 | OMIM:187601 | OMIM:273680 DNA:missense mutation:exon:p.S365C (mouse) protein:increased expression:necleus,chondrocyte: CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 PMID:9677066 PMID:9790257 PMID:10053006 PMID:10471491 PMID:11055896 PMID:11241532 PMID:11429702 PMID:12009017 PMID:12624096 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:19088846 PMID:19381019 PMID:19855393 PMID:20301540 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:23972473 PMID:24075385 PMID:24863959 PMID:25157968 PMID:25614871 PMID:25741868 PMID:28492532 PMID:31994750 PMID:33942288 PMID:34930662 PMID:10073901 PMID:11181569 PMID:9302269 More...
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RGD:2289863, RGD:12910972, RGD:11568030 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Hspg2 |
heparan sulfate proteoglycan 2 |
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ISS |
OMIM:187600 | OMIM:187601 | OMIM:273680 |
MouseDO |
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NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9790257 PMID:9843049 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11429702 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12009017 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19331127 PMID:19381019 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20542753 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:22869148 PMID:23056398 PMID:23200862 PMID:23972473 PMID:24075385 PMID:24419316 PMID:24476948 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28249712 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11429702 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23972473 PMID:24075385 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Acp6 |
acid phosphatase 6, lysophosphatidic |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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Ankrd34a |
ankyrin repeat domain 34A |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
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Ankrd35 |
ankyrin repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063
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Bcl9 |
BCL9, transcription coactivator |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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Cd160 |
CD160 molecule |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,340,820...184,383,421
Ensembl chr 2:184,340,599...184,375,834
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Chd1l |
chromodomain helicase DNA binding protein 1-like |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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Fmo5 |
flavin containing dimethylaniline monoxygenase 5 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
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Gja5 |
gap junction protein, alpha 5 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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Gja8 |
gap junction protein, alpha 8 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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G |
Gpr89b |
G protein-coupled receptor 89B |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
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Hjv |
hemojuvelin BMP co-receptor |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,065,944...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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G |
Itga10 |
integrin subunit alpha 10 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,182,869...184,202,172
Ensembl chr 2:184,182,869...184,202,172
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Lix1l |
limb and CNS expressed 1 like |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,136,018...184,161,918
Ensembl chr 2:184,136,038...184,161,916
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G |
LOC120098377 |
U1 spliceosomal RNA |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr18:79,901,335...79,901,477
Ensembl chr18:79,901,335...79,901,477 Ensembl chr18:79,901,335...79,901,477
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G |
LOC120101277 |
U1 spliceosomal RNA |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:183,943,024...183,943,187
Ensembl chr 2:183,943,024...183,943,187
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G |
Nudt17 |
nudix hydrolase 17 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,241,468...184,243,960
Ensembl chr 2:184,241,468...184,243,960
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G |
Pdzk1 |
PDZ domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
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G |
Pex11b |
peroxisomal biogenesis factor 11 beta |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495
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G |
Pias3 |
protein inhibitor of activated STAT, 3 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,232,546...184,241,455
Ensembl chr 2:184,232,571...184,241,480
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G |
Polr3c |
RNA polymerase III subunit C |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,246,201...184,262,150
Ensembl chr 2:184,246,204...184,262,208
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Polr3gl |
RNA polymerase III subunit GL |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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Ppial4g |
peptidylprolyl isomerase A like 4G |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr15:74,015,628...74,016,215
Ensembl chr15:74,015,628...74,016,215
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Prkab2 |
protein kinase AMP-activated non-catalytic subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
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Rbm8a |
RNA binding motif protein 8A |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16501574 PMID:17236129 PMID:17576681 PMID:20301781 PMID:22366785 PMID:22581968 PMID:23754559 PMID:24033266 PMID:24053387 PMID:24220582 PMID:25741868 PMID:26136524 PMID:26233629 PMID:27320760 PMID:27846804 PMID:28129423 PMID:28492532 PMID:28857120 PMID:32227665 PMID:32333414 PMID:32981126 PMID:33559987 PMID:33718801 PMID:34341987 PMID:34355501 PMID:36077017 More...
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NCBI chr 2:184,165,189...184,167,959
Ensembl chr 2:184,165,193...184,167,959
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Rnf115 |
ring finger protein 115 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:184,262,087...184,329,839
Ensembl chr 2:184,262,371...184,329,823
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Rnvu1-6 |
RNA, variant U1 small nuclear 6 |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
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NCBI chr 2:220,206,250...220,206,413
Ensembl chr 2:220,206,250...220,206,413
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Txnip |
thioredoxin interacting protein |
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ISO |
ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome |
ClinVar |
PMID:17236129 PMID:22366785 PMID:22581968 PMID:24220582 PMID:26233629 PMID:27846804 PMID:28129423 PMID:28492532 More...
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NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
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ISO ISS |
DNA:missense mutations:exon:p.G406R, p.G402S (human) ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 OMIM:601005 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:10343407 PMID:12166659 PMID:15454078 PMID:15863612 PMID:16199547 PMID:16360093 PMID:17224476 PMID:17576681 PMID:18250309 PMID:19074970 PMID:19225208 PMID:20031608 PMID:20543828 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22020278 PMID:22106044 PMID:22581653 PMID:22584458 PMID:22840528 PMID:22990809 PMID:23313911 PMID:23414114 PMID:23575362 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23678275 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24439875 PMID:24690944 PMID:24728418 PMID:24981977 PMID:25184293 PMID:25260352 PMID:25333069 PMID:25341504 PMID:25447171 PMID:25500949 PMID:25633834 PMID:25661095 PMID:25691416 PMID:25741868 PMID:26159999 PMID:26227324 PMID:26230511 PMID:26253506 PMID:26383259 PMID:26386135 PMID:26498160 PMID:26637798 PMID:26822303 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27593853 PMID:27662471 PMID:27711072 PMID:27868338 PMID:27920829 PMID:27925203 PMID:27930701 PMID:28211989 PMID:28341588 PMID:28371864 PMID:28492532 PMID:28518168 PMID:28600387 PMID:28616568 PMID:28704380 PMID:28750076 PMID:29046645 PMID:29071820 PMID:29247119 PMID:29568937 PMID:29915097 PMID:30023270 PMID:30025578 PMID:30172029 PMID:30279520 PMID:30345660 PMID:30513141 PMID:30662450 PMID:30847666 PMID:30984024 PMID:31004778 PMID:31110529 PMID:31293105 PMID:31408100 PMID:31430211 PMID:31453089 PMID:31539150 PMID:31737537 PMID:32145446 PMID:32161207 PMID:32461654 PMID:33488405 PMID:34163037 PMID:34222376 PMID:15863612 More...
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RGD:1580173 |
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
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G |
B4galt7 |
beta-1,4-galactosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Lethal skeletal dysplasia |
ClinVar |
PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392 More...
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NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse) |
OMIM ClinVar CTD RGD |
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:14729840 PMID:15266623 PMID:17078022 PMID:17347327 PMID:17726487 PMID:18272325 PMID:18276201 PMID:19344236 PMID:21442341 PMID:22791362 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26443184 PMID:26467025 PMID:26633542 PMID:28492532 PMID:35052477 PMID:21538020 More...
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RGD:11667102 |
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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G |
Trps1 |
transcriptional repressor GATA binding 1 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10615131 PMID:11112658 PMID:11807863 PMID:11950061 PMID:14560312 PMID:15367484 PMID:16199547 PMID:17576681 PMID:17854380 PMID:18946009 PMID:19694891 PMID:20394624 PMID:21850686 PMID:22964620 PMID:23451857 PMID:23572024 PMID:23621477 PMID:23691375 PMID:24357341 PMID:24502542 PMID:24945424 PMID:25741868 PMID:25792522 PMID:26113321 PMID:27826100 PMID:28050602 PMID:28170084 PMID:28244134 PMID:28426188 PMID:28468609 PMID:28492532 PMID:29095814 PMID:29499646 PMID:30143558 PMID:30458885 PMID:30541476 PMID:30914275 PMID:31502745 PMID:31884116 PMID:32844440 PMID:33073934 More...
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NCBI chr 7:81,916,668...82,142,733
Ensembl chr 7:81,921,601...82,141,905
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Triphalangeal thumb |
ClinVar |
PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:22340503 PMID:24777739 PMID:28492532 PMID:29651423 PMID:32169219 More...
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Rp1l1 |
RP1 like 1 |
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ISO |
ClinVar Annotator: match by term: Ulnar/fibular ray defect and brachydactyly |
ClinVar |
PMID:28492532 |
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NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316
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G |
Cplane2 |
ciliogenesis and planar polarity effector complex subunit 2 |
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ISS |
OMIM:192350 | OMIM:276950 |
MouseDO |
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NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISS |
OMIM:192350 | OMIM:276950 |
MouseDO |
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Fancl |
FA complementation group L |
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ISO |
ClinVar Annotator: match by term: VATER association |
ClinVar |
PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 |
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NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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G |
Fn1 |
fibronectin 1 |
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IEP |
protein:increased expression:embryo |
RGD |
PMID:14986037 |
RGD:7205466 |
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Foxf1 |
forkhead box F1 |
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ISO |
ClinVar Annotator: match by term: VATER association |
ClinVar |
PMID:2629409 PMID:26294094 |
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NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
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RGD |
PMID:11172440 |
RGD:155791680 |
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Gli3 |
GLI family zinc finger 3 |
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ISO |
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RGD |
PMID:11172440 |
RGD:155791680 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Hoxd13 |
homeo box D13 |
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ISO |
ClinVar Annotator: match by term: VACTERL association CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19006232 |
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NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Ift172 |
intraflagellar transport 172 |
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ISS |
OMIM:192350 | OMIM:276950 |
MouseDO |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Notch2 |
notch receptor 2 |
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ISO |
ClinVar Annotator: match by term: VATER association |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pcsk5 |
proprotein convertase subtilisin/kexin type 5 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:192350 | OMIM:276950 DNA:mutation:exon:p.C470R(mouse) |
CTD MouseDO RGD |
PMID:18519639 PMID:18519639 |
RGD:11556208 |
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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Qsox1 |
quiescin sulfhydryl oxidase 1 |
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ISS |
OMIM:192350 | OMIM:276950 |
MouseDO |
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NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
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Shh |
sonic hedgehog signaling molecule |
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IEP |
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RGD |
PMID:12632369 |
RGD:12801426 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Tbc1d32 |
TBC1 domain family, member 32 |
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ISS |
OMIM:192350 | OMIM:276950 |
MouseDO |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Trap1 |
TNF receptor-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: VACTERL association |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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Scarf2 |
scavenger receptor class F, member 2 |
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ISO |
ClinVar Annotator: match by term: Van den Ende-Gupta syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 PMID:28492532 PMID:33783941 PMID:35256560 More...
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NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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Dchs1 |
dachsous cadherin-related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056717 |
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Van Maldergem syndrome |
CTD ClinVar |
PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 |
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NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Dchs1 |
dachsous cadherin-related 1 |
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ISO |
ClinVar Annotator: match by term: Van Maldergem syndrome 1 |
OMIM ClinVar |
PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 PMID:28518168 PMID:32461654 More...
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Van Maldergem syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 |
OMIM ClinVar |
PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868 PMID:26325558 PMID:28492532 PMID:28878612 PMID:30143558 PMID:31384091 More...
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NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.D66H(human) |
OMIM ClinVar CTD RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9326398 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18758381 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30068397 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:12837696 PMID:10369869 More...
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RGD:11568635, RGD:7364824 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Cntnap2 |
contactin associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Weaver syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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G |
Cul1 |
cullin 1 |
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ISO |
ClinVar Annotator: match by term: Weaver syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO ISS |
ClinVar Annotator: match by term: Weaver syndrome OMIM:277590 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:4366187 PMID:9536098 PMID:17576681 PMID:18414213 PMID:22177091 PMID:22190405 PMID:23239504 PMID:24214728 PMID:24728327 PMID:25741868 PMID:25954003 PMID:26380986 PMID:26694085 PMID:27618451 PMID:28490743 PMID:28492532 PMID:29620724 PMID:29802153 PMID:30613354 PMID:31785789 PMID:32243864 More...
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NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Weaver syndrome |
CTD ClinVar |
PMID:12807965 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
ClinVar Annotator: match by term: Weaver syndrome |
ClinVar |
PMID:25741868 PMID:30019515 |
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NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
DNA:missense mutation:CDS:p.V1177M (c.3529G>A) (137854856) (human) ClinVar Annotator: match by term: Weill-Marchesani syndrome 3 |
OMIM ClinVar RGD |
PMID:22539340 PMID:23401661 PMID:25741868 PMID:28492532 PMID:22539340 |
RGD:243049250 |
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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G |
Evc |
EvC ciliary complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7635486 PMID:9536098 PMID:10700184 PMID:16199547 PMID:17576681 PMID:18947413 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:24431330 PMID:25500235 PMID:25741868 PMID:27453244 PMID:28492532 PMID:29068549 More...
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NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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G |
Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12571802 PMID:16404586 PMID:17024374 PMID:17576681 PMID:18182642 PMID:19251731 PMID:19810119 PMID:19876929 PMID:23220543 PMID:25047945 PMID:25326635 PMID:25741868 PMID:26580685 PMID:28492532 PMID:29068549 More...
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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G |
Smo |
smoothened, frizzled class receptor |
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ISO |
ClinVar Annotator: match by term: Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | ClinVar Annotator: match by term: Curry-Jones syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 PMID:28492532 More...
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NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
ClinVar Annotator: match by term: FGD1-Related Disorders | ClinVar Annotator: match by term: FGD1-related condition DNA:deletion:cds:c.2189delA (human) DNA:nonsense mutation:cds:p.W447X (human) DNA:mutations:multiple (human) DNA:insertion:cds:c.2121_2122insG (human) |
OMIM ClinVar RGD |
PMID:11940089 PMID:14560308 PMID:21739585 PMID:23211637 PMID:25046119 PMID:25741868 PMID:26029706 PMID:26467025 PMID:28492532 PMID:29276006 PMID:16353258 PMID:23211637 PMID:20082460 PMID:7954831 More...
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RGD:11554031, RGD:11554030, RGD:11554029, RGD:11554024 |
NCBI chr X:20,023,746...20,066,734
Ensembl chr X:20,023,746...20,066,566
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G |
Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: FGD1-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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G |
Baz1a |
bromodomain adjacent to zinc finger domain, 1A |
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ISO |
ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations |
ClinVar |
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NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
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G |
Fancb |
FA complementation group B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome |
CTD ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 |
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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G |
Fancl |
FA complementation group L |
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ISO |
ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus |
ClinVar |
PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 PMID:29625052 More...
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NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly |
CTD ClinVar |
PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 PMID:18986487 PMID:19265751 PMID:20533527 PMID:21828076 PMID:22628360 PMID:23335809 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29706350 PMID:29874181 More...
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Sall1 |
spalt-like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: VACTERL-H |
ClinVar |
PMID:25741868 |
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NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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G |
Zic3 |
Zic family member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus |
OMIM CTD ClinVar |
PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 PMID:32753700 More...
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NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746
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G |
Fig4 |
FIG4 phosphoinositide 5-phosphatase |
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ISO ISS |
ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM:216340 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:18758830 PMID:19118816 PMID:20301641 PMID:20630877 PMID:20932945 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24088667 PMID:24598713 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29468183 PMID:29518270 PMID:29650794 PMID:30373780 PMID:30740813 PMID:30792901 PMID:31313076 PMID:31475037 PMID:32022442 PMID:32376792 PMID:32385536 PMID:33424531 PMID:34426522 PMID:36133075 PMID:37223130 More...
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NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
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Vac14 |
VAC14 component of PIKFYVE complex |
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ISO |
ClinVar Annotator: match by term: Yunis-Varon syndrome |
ClinVar |
PMID:17956977 PMID:28492532 PMID:28635952 |
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NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
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Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25915598 |
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NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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G |
Kcnh1 |
potassium voltage-gated channel subfamily H member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Laband syndrome |
CTD ClinVar |
PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:28492532 PMID:32581362 PMID:32860008 More...
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NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 |
ClinVar |
PMID:18541964 PMID:23994350 PMID:25915598 |
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NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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G |
Kcnh1 |
potassium voltage-gated channel subfamily H member 1 |
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ISO |
ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 |
OMIM ClinVar |
PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 PMID:25420144 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 PMID:27267311 PMID:28492532 PMID:32581362 PMID:32860008 PMID:33619735 More...
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NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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Atp6v1b2 |
ATPase H+ transporting V1 subunit B2 |
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ISO |
ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 |
OMIM ClinVar |
PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598 |
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NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745
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Kcnn3 |
potassium calcium-activated channel subfamily N member 3 |
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ISO |
ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:31155282 |
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NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
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