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G |
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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G |
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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G |
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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G |
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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G |
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 |
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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 |
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 |
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 |
|
ISO |
ClinVar Annotator: match by term: Brachydactyly type A2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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: Brachydactyly type A2 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: Brachydactyly type A2 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 |
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 |
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 |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Familial digital arthropathy-brachydactyly CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 |
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 |
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 |
Runx2 |
RUNX family transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition |
OMIM CTD ClinVar |
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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G |
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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G |
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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G |
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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G |
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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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 |
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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