|
G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30395363 |
|
NCBI chr 5:25,732,457...25,750,953
Ensembl chr 5:25,732,644...25,750,826
|
|
G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:15717203 PMID:18485326 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
|
RGD |
PMID:11285249 |
RGD:1300320 |
NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
|
|
G |
Fzd4 |
frizzled class receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17103440 |
|
NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
|
|
G |
Gdf5 |
growth differentiation factor 5 |
|
ISO |
DNA:insertion:cds: |
RGD |
PMID:18984342 |
RGD:12738203 |
NCBI chr 3:151,482,672...151,487,129
Ensembl chr 3:151,483,249...151,486,693
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
|
|
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 |
PMID:25267529 |
RGD:12738225 |
NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
popliteal pterygium syndrome, OMIM:119500 |
RGD |
PMID:12219090 |
RGD:1600214 |
NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
|
|
G |
Jag2 |
jagged canonical Notch ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9531541 |
|
NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16207730 |
|
NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
|
|
G |
Nedd4l |
NEDD4 like E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27694961 |
|
NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
|
|
G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Non-syndromic syndactyly |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:85,386,492...85,399,699
Ensembl chr 1:85,386,470...85,399,699
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
DNA:missense mutation: :p.P252R (human) |
RGD |
PMID:7874169, PMID:25251565 |
RGD:11567243, RGD:11567271 |
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
severity treatment |
ISO |
ClinVar Annotator: match by term: Acrocephalosyndactyly type I ClinVar Annotator: match by term: Craniofacial-skeletal-dermatologic dysplasia ClinVar Annotator: match by term: Acrocephaly, skull asymmetry, and mild syndactyly ClinVar Annotator: match by term: Apert syndrome ClinVar Annotator: match by term: Saethre-Chotzen syndrome DNA:missense mutation:cds:p.P253R (human) DNA:missense mutation:cds:p.A172F (human) DNA:missense mutations:cds:p.S252W, p.P253R (human) ClinVar Annotator: match by OMIM:101200 CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar CTD |
PMID:7558045 PMID:7607643 PMID:7655462 PMID:7668257 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8650126 PMID:8651276 PMID:8696350 PMID:8755573 PMID:8946174 PMID:8957519 PMID:9002682 PMID:9150725 PMID:9462761 PMID:9475591 PMID:9502772 PMID:9677057 PMID:9700203 PMID:9719378 PMID:9973282 PMID:10394936 PMID:10618369 PMID:10851026 PMID:11121055 PMID:11390973 PMID:11781872 PMID:12000365 PMID:12124745 PMID:12145519 PMID:12400058 PMID:12900900 PMID:14499350 PMID:15286168 PMID:15316116 PMID:15389579 PMID:15863034 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16531735 PMID:16838304 PMID:16969861 PMID:17251833 PMID:17264867 PMID:17525745 PMID:17694057 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:23431754 PMID:23495007 PMID:23546041 PMID:23786770 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:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:27079505 PMID:27683237 PMID:28492532 PMID:31145570, PMID:10735635, PMID:23532954, PMID:17694057, PMID:9677057, PMID:7668257 |
RGD:12801488, RGD:12801475, RGD:12801474, RGD:12801413, RGD:8547743 |
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
SCS,OMIM:101400;DNA:point mutation:exon:Y103X,Q119P CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15923834 PMID:23354436, PMID:8988166 |
RGD:1624353 |
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
|
|
|
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 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
|
|
|
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 ClinVar Annotator: match by OMIM:610713 |
OMIM ClinVar CTD |
PMID:17236141 PMID:23995701 PMID:24239177 PMID:25741868 |
|
NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
|
|
NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
|
|
G |
Rab23 |
RAB23, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:17503333 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
|
|
|
G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
|
|
NCBI chr 9:38,456,487...38,467,120
Ensembl chr 9:38,456,468...38,467,118
|
|
G |
Rab23 |
RAB23, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 ClinVar Annotator: match by OMIM:201000 |
OMIM ClinVar |
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:38,469,784...38,496,185
Ensembl chr 9:38,470,298...38,495,176
|
|
|
G |
Megf8 |
multiple EGF-like-domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 ClinVar Annotator: match by OMIM:614976 |
OMIM ClinVar |
PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII ClinVar Annotator: match by term: Syndactyly Cenani Lenz type ClinVar Annotator: match by OMIM:212780 |
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:24234652 PMID:25119311 PMID:25741868 PMID:26751728 PMID:28492532 PMID:28559208 |
|
NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:225060 |
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 |
|
NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
|
|
|
G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
ClinVar Annotator: match by term: Orstavik Lindemann Solberg syndrome ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly |
ClinVar OMIM |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 |
|
NCBI chr14:106,393,959...106,759,511
Ensembl chr14:106,393,959...106,759,505
|
|
|
G |
Nectin4 |
nectin cell adhesion molecule 4 |
|
ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia-syndactyly syndrome 1 ClinVar Annotator: match by OMIM:613573 |
OMIM ClinVar |
PMID:20691405 PMID:21346770 PMID:24577405 PMID:25529316 PMID:25741868 PMID:28492532 |
|
NCBI chr13:89,755,665...89,774,185
Ensembl chr13:89,755,845...89,774,378
|
|
|
G |
Ckap2l |
cytoskeleton associated protein 2-like |
|
ISO |
ClinVar Annotator: match by term: Filippi syndrome |
ClinVar OMIM |
PMID:8867657 PMID:15365457 PMID:18553552 PMID:25439729 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:121,796,221...121,822,352
Ensembl chr 3:121,796,238...121,822,436
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17163535 |
|
NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
|
|
G |
Frem1 |
Fras1 related extracellular matrix 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
|
NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17163535 |
|
NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISS |
OMIM:219000 |
MouseDO |
|
|
NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
|
|
|
G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
|
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar Annotator: match by term: Cryptophthalmos syndrome ClinVar Annotator: match by term: FRASER SYNDROME 1 ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME ClinVar Annotator: match by OMIM:219000 |
ClinVar OMIM |
PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27280866 PMID:27859469 PMID:28492532 PMID:31319225, PMID:12766769 |
RGD:1598960 |
NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
ISO |
ClinVar Annotator: match by OMIM:219000 ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME |
ClinVar |
PMID:25741868 PMID:26275891 PMID:28492532 |
|
NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by OMIM:219000 ClinVar Annotator: match by term: Cryptophthalmos syndrome ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
|
|
|
G |
Frem2 |
FRAS1 related extracellular matrix 2 |
|
IAGP ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 2 |
ClinVar OMIM |
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 PMID:26275891 PMID:28492532 PMID:29688405 PMID:30802441, PMID:21756877 |
RGD:13464328 |
NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
|
|
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 chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
|
|
G |
Aipl1 |
aryl hydrocarbon receptor-interacting protein-like 1 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
|
|
G |
Aspa |
aspartoacylase |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
|
|
G |
Bclaf1 |
BCL2-associated transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
|
|
G |
Borcs6 |
BLOC-1 related complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
|
|
G |
Gnb5 |
G protein subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
|
|
G |
Grip1 |
glutamate receptor interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar Annotator: match by term: Fraser syndrome 3 |
ClinVar OMIM |
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532 |
|
NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
|
|
G |
Lsm10 |
LSM10, U7 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708
|
|
G |
Med23 |
mediator complex subunit 23 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
|
|
G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
|
|
G |
Myo18b |
myosin XVIIIb |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
|
|
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 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
|
|
G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
PMID:28492532 |
|
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
|
|
G |
Spata22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
|
|
G |
Tlcd3a |
TLC domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr10:64,360,374...64,367,679
Ensembl chr10:64,360,390...64,366,586
|
|
G |
Wdr81 |
WD repeat domain 81 |
|
ISO |
ClinVar Annotator: match by term: FRASER SYNDROME 3 |
ClinVar |
|
|
NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
|
|
|
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 DNA:mutations:exon, intron:multiple DNA:nonsense mutations, missense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:175700 |
OMIM ClinVar CTD |
PMID:1879832 PMID:6641002 PMID:9302279 PMID:10441342 PMID:10441570 PMID:10678662 PMID:12414818 PMID:12794692 PMID:14608643 PMID:15739154 PMID:15811011 PMID:16740916 PMID:18000979 PMID:18154020 PMID:18241058 PMID:18435847 PMID:19829694 PMID:20583172 PMID:20672375 PMID:24736735 PMID:25606469 PMID:25741868 PMID:26508445 PMID:27231705 PMID:28166811 PMID:28492532, PMID:15739154, PMID:10441342, PMID:24736735, PMID:22903559 |
RGD:12738222, RGD:12738208, RGD:12738205, RGD:12738141 |
NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
|
|
|
G |
Fgf10 |
fibroblast growth factor 10 |
|
ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar Annotator: match by OMIM:149730 |
OMIM ClinVar |
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 |
|
NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar Annotator: match by OMIM:149730 |
OMIM ClinVar |
PMID:7558045 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:15975938 PMID:16158432 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:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570 |
|
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
|
|
G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: LADD syndrome ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar Annotator: match by OMIM:149730 |
OMIM ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11055896 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:17384684 PMID:17875876 PMID:18583390 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26818779 PMID:28483234 PMID:28492532 |
|
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
|
|
|
G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 9 |
OMIM ClinVar |
PMID:9783716 PMID:15039974 PMID:25466284 |
|
NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
|
|
|
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) ClinVar Annotator: match by OMIM:164200 DNA:missense mutation: :p.H194P (human) DNA:missense mutations, duplication:multiple (human) DNA:missense mutation:cds:p.G60S (mouse) |
ClinVar CTD OMIM |
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 |
RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 |
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar OMIM |
PMID:2309863 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16816024 PMID:17901047 PMID:18003637 PMID:18946008 PMID:19057520 PMID:19338053 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:25388818 PMID:25398053 PMID:25741868 PMID:27226478 PMID:28492532 |
|
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
|
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by null |
ClinVar |
PMID:10932188 PMID:11559849 |
|
NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
|
|
|
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 7 |
ClinVar OMIM |
PMID:25741868 PMID:27694961 PMID:32238909 |
|
NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
|
|
|
G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pfeiffer syndrome |
OMIM ClinVar |
PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 PMID:14613973 PMID:16957473 PMID:24127277 PMID:24497711 PMID:25251565 PMID:28492532 |
|
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Pfeiffer syndrome ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 ClinVar Annotator: match by term: ACS V |
OMIM ClinVar |
PMID:7558045 PMID:7581378 PMID:7607643 PMID:7655462 PMID:7719333 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7795583 PMID:7874170 PMID:7987400 PMID:8434615 PMID:8528214 PMID:8644708 PMID:8650126 PMID:8651276 PMID:8755573 PMID:8946174 PMID:8957519 PMID:8958319 PMID:9150725 PMID:9385368 PMID:9462761 PMID:9475591 PMID:9586546 PMID:9605588 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:11781872 PMID:11807866 PMID:12124745 PMID:12400058 PMID:12884424 PMID:12884434 PMID:14499350 PMID:15282208 PMID:15286168 PMID:15316116 PMID:15523615 PMID:15975938 PMID:15996217 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 PMID:17525745 PMID:17803937 PMID:18391498 PMID:18552176 PMID:18618990 PMID:19066959 PMID:20133659 PMID:20301628 PMID:20503384 PMID:21367659 PMID:22238366 PMID:22558232 PMID:22664175 PMID:23002168 PMID:23348274 PMID:23431754 PMID:23495007 PMID:23546041 PMID:23786770 PMID:23908597 PMID:24036790 PMID:24127277 PMID:24489893 PMID:24656465 PMID:25157968 PMID:25271085 PMID:25361936 PMID:25741868 PMID:25759925 PMID:25759927 PMID:25867380 PMID:26289989 PMID:26362256 PMID:26380986 PMID:26619011 PMID:27028366 PMID:27481450 PMID:27683237 PMID:27803855 PMID:28492532 PMID:31145570 PMID:270283566 |
|
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
|
|
|
G |
Irf6 |
interferon regulatory factor 6 |
|
ISO |
ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar Annotator: match by OMIM:119500 |
OMIM ClinVar |
PMID:12219090 PMID:14757865 PMID:18478600 PMID:18617879 PMID:19036739 PMID:20803643 PMID:22488974 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:28492532 PMID:29453417 |
|
NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
|
|
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 chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
|
|
|
G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Bartsocas-Papas syndrome ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type ClinVar Annotator: match by OMIM:263650 |
OMIM ClinVar |
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 |
|
NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
|
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Robinow-Sorauf syndrome ClinVar Annotator: match by OMIM:180750 |
OMIM ClinVar |
PMID:1240778 PMID:10465122 PMID:12791045 PMID:16251895 PMID:18391498 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
|
|
|
G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Saethre-Chotzen syndrome ClinVar Annotator: match by term: ACS III |
ClinVar OMIM |
PMID:7558045 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:15975938 PMID:16158432 PMID:16440883 PMID:16838304 PMID:17264867 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:24728327 PMID:25157968 PMID:25271085 PMID:25425289 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26429889 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 |
|
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
|
|
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:22016144 PMID:22622662 PMID:24728327 PMID:25741868 PMID:26740388 PMID:28492532 PMID:32238909 |
|
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
|
|
G |
Twist1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by null ClinVar Annotator: match by term: Saethre-Chotzen syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:8968762 PMID:8988166 PMID:8988167 PMID:9259286 PMID:9934984 PMID:10649491 PMID:11248247 PMID:11474656 PMID:11754069 PMID:11977182 PMID:18391498 PMID:19373776 PMID:20643727 PMID:24127277 PMID:25271085 PMID:25741868 PMID:25741869 PMID:28492532 PMID:31837199 |
|
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
|
|
G |
Sost |
sclerostin |
|
ISO |
DNA:transition: :69C>T (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11179006 |
RGD:68858 |
NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
|
|
|
G |
Sost |
sclerostin |
|
ISO |
ClinVar Annotator: match by term: Sclerosteosis 1 |
ClinVar OMIM |
PMID:9712543 PMID:11179006 PMID:11181578 PMID:28492532 |
|
NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
|
|
|
G |
Lrp4 |
LDL receptor related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Sclerosteosis 2 ClinVar Annotator: match by OMIM:614305 |
OMIM ClinVar |
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:28492532 |
|
NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
|
|
|
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 chr10:76,901,681...77,210,042
Ensembl chr10:76,903,325...76,930,631
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES |
ClinVar OMIM |
PMID:9851982 PMID:10069712 PMID:11160400 PMID:11857750 PMID:12089654 PMID:17668388 PMID:18440889 |
|
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
|
|
|
G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
DNA:duplications |
RGD |
PMID:21167467 |
RGD:12910956 |
NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly type 3 ClinVar Annotator: match by OMIM:186100 |
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 |
|
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
|
|
|
G |
Lmbr1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:1849351 PMID:18417549 PMID:19847792 |
|
NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
|
|
G |
Shh |
sonic hedgehog signaling molecule |
|
ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
|
|
|
G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly, type V |
ClinVar |
|
|
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISO |
ClinVar Annotator: match by term: Syndactyly, type V DNA:missense mutation:exon:p.Q317R (c.950A>G) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:186300 |
OMIM ClinVar CTD |
PMID:9207113 PMID:15333588 PMID:16222680 PMID:17236141 PMID:24239177 PMID:25741868, PMID:17236141 |
RGD:12738470 |
NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
|
|
|
G |
Fgf16 |
fibroblast growth factor 16 |
|
ISO |
ClinVar Annotator: match by term: Metacarpal 4-5 fusion |
OMIM ClinVar |
PMID:23709756 PMID:24878828 |
|
NCBI chr X:76,786,728...76,796,311
Ensembl chr X:76,786,466...76,797,069
|
|
|
G |
Ccnq |
cyclin Q |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:300707 |
OMIM CTD ClinVar |
PMID:8818947 PMID:18297069 |
|
NCBI chr10:66,019,519...66,020,682
Ensembl chr10:66,019,520...66,020,682
|
|
|
G |
Chst11 |
carbohydrate sulfotransferase 11 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly |
ClinVar |
PMID:29514872 |
|
NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716
|
|
G |
Fbln1 |
fibulin 1 |
|
ISS |
OMIM:186000 | OMIM:608180 | OMIM:610234 |
MouseDO |
|
|
NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
|
|
G |
Hoxd13 |
homeo box D13 |
|
ISS |
OMIM:186000 | OMIM:608180 | OMIM:610234 |
MouseDO |
|
|
NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
|
|
|
G |
Chst11 |
carbohydrate sulfotransferase 11 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly 1 |
ClinVar |
PMID:29514872 |
|
NCBI chr 7:26,641,856...26,890,503
Ensembl chr 7:26,645,422...26,859,716
|
|
G |
Hoxd13 |
homeo box D13 |
severity |
ISO |
DNA:duplication:CDS ClinVar Annotator: match by term: Synpolydactyly 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 Annotator: match by OMIM:186000 |
ClinVar OMIM CTD |
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:8817328, PMID:27254532, PMID:9207113, PMID:22374128, PMID:12620993, PMID:24055421, PMID:21814222, PMID:11543619, PMID:15952114, PMID:23948678 |
RGD:1599534, RGD:12743595, RGD:12743592, RGD:11098998, RGD:12738399, RGD:11098055, RGD:11098032, RGD:12738377, RGD:12738375, RGD:11098288 |
NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
|
|
|
G |
Fbln1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Synpolydactyly 2 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
|
|
|
G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Tarsal carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human) ClinVar Annotator: match by OMIM:186570 |
OMIM ClinVar |
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:25741868, PMID:26211601 |
RGD:12801450 |
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
|
|
|
G |
Cacna1c |
calcium voltage-gated channel subunit alpha1 C |
|
ISO |
DNA:missense mutations:exon:p.G406R, p.G402S (human) ClinVar Annotator: match by term: Timothy syndrome ClinVar Annotator: match by term: Long QT syndrome 8 ClinVar Annotator: match by OMIM:601005 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:15454078 PMID:15863612 PMID:17224476 PMID:18250309 PMID:19074970 PMID:20817017 PMID:21307850 PMID:21685391 PMID:21878566 PMID:21910241 PMID:22106044 PMID:22581653 PMID:23174487 PMID:23414114 PMID:23578275 PMID:23580742 PMID:23631430 PMID:23677916 PMID:23690510 PMID:23861362 PMID:24033266 PMID:24183960 PMID:24690944 PMID:24728418 PMID:25184293 PMID:25333069 PMID:25633834 PMID:25691416 PMID:25741868 PMID:25974115 PMID:26227324 PMID:26230511 PMID:26386135 PMID:26822303 PMID:27218670 PMID:27231019 PMID:27502440 PMID:27711072 PMID:27930701 PMID:28166811 PMID:28341588 PMID:28492532 PMID:28600387 PMID:28616568 PMID:29016939 PMID:29046645 PMID:29071820 PMID:30279520 PMID:30345660 PMID:31539150, PMID:15863612 |
RGD:1580173 |
NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
|
|
|
G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
ClinVar Annotator: match by term: Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development |
OMIM ClinVar |
PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 |
|
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
|
|