|
G |
Aggf1 |
angiogenic factor with G patch and FHA domains 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:26,619,336...26,646,050
Ensembl chr 2:26,619,339...26,645,952
|
|
G |
Cdh20 |
cadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr13:20,737,640...21,069,746
Ensembl chr13:20,738,081...21,068,676
|
|
G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30395363 |
|
NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:15717203 PMID:17041936 PMID:18485326 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
|
RGD |
PMID:11285249 |
RGD:1300320 |
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
|
|
G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
|
NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
DNA:insertion:cds: |
RGD |
PMID:18984342 |
RGD:12738203 |
NCBI chr 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
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
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
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
|
|
G |
Jag2 |
jagged canonical Notch ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9531541 |
|
NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
|
|
G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16207730 |
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
|
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063
|
|
G |
Rab19 |
RAB19, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:68,157,159...68,166,889
Ensembl chr 4:68,156,881...68,166,886
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169 PMID:25251565 |
RGD:11567243, RGD:11567271 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
severity treatment |
ISO |
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 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 CTD RGD |
PMID:7607643 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 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:12357470 PMID:12400058 PMID:12884424 PMID:12900900 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16470531 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17576681 PMID:17693524 PMID:17694057 PMID:18552176 PMID:18726952 PMID:19186770 PMID:20133659 PMID:20301628 PMID:20489451 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23786770 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24127277 PMID:24486773 PMID:24489893 PMID:24656465 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:28166811 PMID:28492532 PMID:28611549 PMID:31145570 PMID:10735635 PMID:23532954 PMID:17694057 PMID:9677057 PMID:7668257 More...
|
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
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
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...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:1240778 PMID:8968762 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11754069 PMID:11977182 PMID:12116251 PMID:12791045 PMID:15923834 PMID:18391498 PMID:19373776 PMID:20643727 PMID:21876555 PMID:22382802 PMID:23354436 PMID:24127277 PMID:25271085 PMID:25741868 PMID:26114524 PMID:28369379 PMID:28492532 PMID:30450715 PMID:31754721 PMID:31837199 PMID:8988166 More...
|
RGD:1624353 |
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects |
ClinVar |
PMID:24084572 |
|
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
|
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 |
OMIM ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
|
|
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
|
|
|
G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 |
OMIM ClinVar |
PMID:25691407 |
|
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
|
|
|
G |
Hoxd13 |
homeo box D13 |
|
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:23995701 PMID:24239177 PMID:25741868 |
|
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
|
|
NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carpenter syndrome |
CTD ClinVar |
|
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
|
|
G |
Rab23 |
RAB23, member RAS oncogene family |
|
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:16199547 PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
|
|
NCBI chr 9:35,970,033...35,980,677
Ensembl chr 9:35,970,033...35,980,721
|
|
G |
Rab23 |
RAB23, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
OMIM ClinVar |
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927
|
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome |
OMIM ClinVar |
PMID:7891385 PMID:9182770 PMID:9536098 PMID:10756427 PMID:11260233 PMID:12868467 PMID:14577675 PMID:17576681 PMID:18978656 PMID:20381006 PMID:21471202 PMID:23636941 PMID:24234652 PMID:24924585 PMID:25119311 PMID:25741868 PMID:26751728 PMID:28492532 PMID:28559208 More...
|
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia 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...
|
|
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
|
|
|
G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
ClinVar Annotator: match by term: Heart defect - tongue hamartoma - polysyndactyly syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 More...
|
|
NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
|
|
|
G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 |
OMIM ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr13:83,802,589...83,821,711
Ensembl chr13:83,803,184...83,821,709
|
|
|
G |
Ckap2l |
cytoskeleton associated protein 2-like |
|
ISO |
ClinVar Annotator: match by term: Filippi syndrome |
OMIM ClinVar |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:116,497,186...116,524,302
Ensembl chr 3:116,498,022...116,524,366
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cryptophthalmos with other malformations |
CTD ClinVar |
PMID:17163535 PMID:18671281 PMID:25741868 PMID:28844315 PMID:34246755 |
|
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
|
NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17163535 |
|
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar OMIM RGD |
PMID:9536098 PMID:12766769 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:31319225 PMID:31738409 PMID:31999076 PMID:33726816 PMID:34246755 PMID:34974531 PMID:35005812 PMID:12766769 More...
|
RGD:1598960 |
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:26275891 PMID:28492532 |
|
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
|
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
IAGP ISO |
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:28492532 PMID:29688405 PMID:30143558 PMID:30773290 PMID:30802441 PMID:21756877 More...
|
RGD:13464328 |
NCBI chr 2:137,602,784...137,740,785
Ensembl chr 2:137,602,784...137,740,785
|
|
G |
Frem2fpl |
Fras1 related extracellular matrix protein 2;fpl mutant |
|
IAGP |
|
RGD |
PMID:21756877 |
RGD:13464328 |
|
|
|
G |
Adamts14 |
ADAM metallopeptidase with thrombospondin type 1 motif, 14 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr20:29,143,029...29,219,846
Ensembl chr20:29,144,354...29,219,866
|
|
G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
|
|
G |
Aspa |
aspartoacylase |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
|
|
G |
Borcs6 |
BLOC-1 related complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
|
|
G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 8:76,076,227...76,104,151
Ensembl chr 8:76,073,306...76,105,069
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
OMIM ClinVar |
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532 More...
|
|
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
|
|
G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 5:138,365,983...138,375,856
Ensembl chr 5:138,373,119...138,377,505
|
|
G |
Med23 |
mediator complex subunit 23 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
|
|
G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
|
|
G |
Myo18b |
myosin XVIIIb |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
|
|
G |
Odad1 |
outer dynein arm docking complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
|
|
G |
Spata22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
|
|
G |
Tlcd3a |
TLC domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr10:61,057,470...61,065,293
Ensembl chr10:61,058,042...61,065,283
|
|
G |
Wdr81 |
WD repeat domain 81 |
|
ISO |
ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar |
|
|
NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296
|
|
|
G |
Adcy9 |
adenylate cyclase 9 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
|
|
G |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
|
|
G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
|
|
G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
|
|
G |
Dnase1 |
deoxyribonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
|
|
G |
Gli3 |
GLI family zinc finger 3 |
|
ISO |
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 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 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:18435847 PMID:19829694 PMID:20583172 PMID:22903559 PMID:24736735 PMID:25606469 PMID:25741868 PMID:26508445 PMID:28166811 PMID:28224613 PMID:28492532 PMID:30773290 PMID:32591344 PMID:33304378 PMID:34906502 PMID:15739154 PMID:10441342 PMID:24736735 PMID:22903559 More...
|
RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
|
|
G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
|
|
G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
|
|
G |
Srl |
sarcalumenin |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
|
|
G |
Tfap4 |
transcription factor AP-4 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
|
|
G |
Trap1 |
TNF receptor-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
|
|
G |
Vasn |
vasorin |
|
ISO |
ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
|
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 More...
|
|
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16501574 PMID:16838304 PMID:17525745 PMID:18056630 PMID:18414213 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8723106 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10471491 PMID:10671061 PMID:10696568 PMID:10861678 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15772091 PMID:15915095 PMID:16501574 PMID:16841094 PMID:17552943 PMID:18076102 PMID:18642369 PMID:19215249 PMID:19381019 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20453470 PMID:21510009 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:26740388 PMID:28483234 PMID:28492532 PMID:32238909 More...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
|
OMIM |
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
|
OMIM |
|
|
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
|
|
|
G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction |
OMIM ClinVar |
PMID:9783716 PMID:15039974 PMID:25466284 PMID:25741868 PMID:28492532 |
|
NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia 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 CTD OMIM RGD |
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 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:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:25741868 PMID:28492532 PMID:16219735 PMID:18003637 PMID:15637728 PMID:12457340 PMID:16155213 More...
|
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
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:16816024 PMID:18079109 PMID:19057520 PMID:19615768 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23951358 PMID:25398053 PMID:25741868 PMID:28492532 PMID:30653986 More...
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Tbc1d32 |
TBC1 domain family, member 32 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
|
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Orofacial cleft 7 |
ClinVar |
PMID:10932188 PMID:11559849 |
|
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
|
|
|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
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:32238909 |
|
NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome |
OMIM ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:11173846 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15605412 PMID:15793702 PMID:16764984 PMID:16957473 PMID:18034870 PMID:23657145 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25064402 PMID:25251565 PMID:25741868 PMID:26931467 PMID:26942290 PMID:28492532 PMID:31837199 More...
|
|
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 | ClinVar Annotator: match by term: Pfeiffer syndrome DNA:mutations:CDS:multiple (human) DNA:SNPs, missense mutation:splice junction, CDS:multiple (human) |
OMIM ClinVar RGD |
PMID:7581378 PMID:7607643 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8755573 PMID:8957519 PMID:8958319 PMID:9150725 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9536098 PMID:9586546 PMID:9605588 PMID:9714439 PMID:9719378 PMID:10076886 PMID:10076887 PMID:10394936 PMID:10406670 PMID:10633130 PMID:10851026 PMID:10945669 PMID:11121055 PMID:11325814 PMID:11390973 PMID:11781872 PMID:11807866 PMID:12124745 PMID:12400058 PMID:12884424 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:17576681 PMID:17803937 PMID:18541976 PMID:18552176 PMID:20133659 PMID:20301628 PMID:20643727 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23754559 PMID:23786770 PMID:23787031 PMID:23908597 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25361936 PMID:25741868 PMID:25867380 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:27803855 PMID:28492532 PMID:31145570 PMID:33074973 PMID:7795583 More...
|
RGD:155782906, RGD:155663661 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome |
OMIM ClinVar |
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19734457 PMID:20803643 PMID:22440537 PMID:22488974 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO ISS |
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650 |
ClinVar MouseDO |
|
|
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
|
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome |
OMIM ClinVar |
PMID:1240778 PMID:10465122 PMID:12791045 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chotzen syndrome | ClinVar Annotator: match by term: Saethre-Chotzen syndrome |
OMIM ClinVar |
PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9462761 PMID:9585583 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12124745 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17264867 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23430493 PMID:23495007 PMID:23546041 PMID:23632174 PMID:23787031 PMID:24016645 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25425289 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:28166811 PMID:28492532 PMID:31145570 More...
|
|
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
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...
|
|
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
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 |
CTD ClinVar OMIM |
PMID:1240778 PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9585583 PMID:9792856 PMID:9934984 PMID:10649491 PMID:10749989 PMID:11248247 PMID:11474656 PMID:11754069 PMID:11854168 PMID:11977182 PMID:12116251 PMID:12791045 PMID:15099347 PMID:15923834 PMID:16251895 PMID:17651129 PMID:18391498 PMID:19373776 PMID:19952666 PMID:20643727 PMID:21876555 PMID:22382802 PMID:22995991 PMID:23527594 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741869 PMID:26114524 PMID:26416026 PMID:28369379 PMID:28492532 PMID:28617965 PMID:29304373 PMID:29597095 PMID:30450715 PMID:31754721 PMID:31837199 More...
|
|
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
G |
Sost |
sclerostin |
|
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
|
|
|
G |
Sost |
sclerostin |
|
ISO |
ClinVar Annotator: match by term: Sclerosteosis 1 |
OMIM ClinVar |
PMID:11179006 PMID:11181578 PMID:19072561 PMID:25741868 PMID:25984533 PMID:28492532 More...
|
|
NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Sclerosteosis 2 |
OMIM ClinVar |
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
|
|
|
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 |
|
|
NCBI chr10:74,214,143...74,602,825
Ensembl chr10:74,218,915...74,663,295
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Stapes ankylosis with broad thumbs and toes |
OMIM ClinVar |
PMID:9851982 PMID:10069712 PMID:11160400 PMID:11857750 PMID:12089654 PMID:17668388 PMID:18440889 More...
|
|
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
|
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
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
|
|
G |
Nhej1 |
nonhomologous end-joining factor 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 1 |
ClinVar |
|
|
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 3 |
OMIM 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...
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
|
G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 4 |
OMIM ClinVar |
PMID:1849351 PMID:18417549 PMID:19847792 |
|
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
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
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 5 |
ClinVar |
|
|
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 5 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...
|
RGD:12738470 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
|
G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 8 |
OMIM ClinVar |
PMID:23709756 PMID:24878828 |
|
NCBI chr X:70,816,658...70,827,270
Ensembl chr X:70,817,433...70,878,717
|
|
|
G |
Ccnq |
cyclin Q |
|
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 |
|
NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
|
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISS ISO |
OMIM:186000 | OMIM:608180 | OMIM:610234 ClinVar Annotator: match by term: Synpolydactyly |
MouseDO ClinVar |
PMID:25741868 |
|
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
|
|
|
G |
Chst11 |
carbohydrate sulfotransferase 11 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly type 1 |
ClinVar |
PMID:29514872 |
|
NCBI chr 7:20,524,535...20,743,008
Ensembl chr 7:20,528,100...20,743,111
|
|
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: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...
|
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
|
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
|
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human) |
OMIM ClinVar RGD |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:25741868 PMID:26211601 More...
|
RGD:12801450 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
|
|
|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
DNA:missense mutations:exon:p.G406R, p.G402S (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: Long qt syndrome 8 | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1 |
OMIM CTD ClinVar RGD |
PMID:9536098 PMID:15454078 PMID:15863612 PMID:16360093 PMID:17224476 PMID:17576681 PMID:18250309 PMID:19074970 PMID:19225208 PMID:20031608 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22106044 PMID:22581653 PMID:22584458 PMID:22840528 PMID:23174487 PMID:23313911 PMID:23414114 PMID:23575362 PMID:23580742 PMID:23631430 PMID:23677916 PMID:23678275 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24439875 PMID:24690944 PMID:24728418 PMID:25184293 PMID:25260352 PMID:25333069 PMID:25341504 PMID:25447171 PMID:25500949 PMID:25633834 PMID:25661095 PMID:25691416 PMID:25741868 PMID:25974115 PMID:26227324 PMID:26230511 PMID:26253506 PMID:26383259 PMID:26386135 PMID:26498160 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27593853 PMID:27711072 PMID:27868338 PMID:27920829 PMID:27925203 PMID:27930701 PMID:28166811 PMID:28211989 PMID:28341588 PMID:28371864 PMID:28492532 PMID:28600387 PMID:28616568 PMID:28704380 PMID:28878402 PMID:29016939 PMID:29046645 PMID:29071820 PMID:29568937 PMID:29754768 PMID:29915097 PMID:30023270 PMID:30025578 PMID:30027834 PMID:30172029 PMID:30279520 PMID:30345660 PMID:30513141 PMID:30530868 PMID:30847666 PMID:30984024 PMID:31004778 PMID:31110529 PMID:31293105 PMID:31376648 PMID:31408100 PMID:31430211 PMID:31539150 PMID:31729605 PMID:31737537 PMID:32145446 PMID:32161207 PMID:33488405 PMID:15863612 More...
|
RGD:1580173 |
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
|
|
|
G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
ClinVar Annotator: match by term: Curry-Jones syndrome |
OMIM ClinVar |
PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 More...
|
|
NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
|
|