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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11940089 |
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NCBI chr X:20,023,746...20,066,730
Ensembl chr X:20,023,746...20,066,566
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
associated with Kallmann Syndrome;DNA:missense mutations, nonsense mutation:exon:multiple |
RGD |
PMID:25394172 |
RGD:11098154 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Lmna |
lamin A/C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15996213 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Pthlh |
parathyroid hormone-like hormone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20170896 |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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G |
Tp63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11462173 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Acheiropodia |
OMIM ClinVar |
PMID:11090342 PMID:33863876 |
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
ClinVar Annotator: match by term: Brachydactyly syndrome type E |
ClinVar |
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 |
|
ISO |
ClinVar Annotator: match by term: Brachydactyly type E1 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 |
Pthlh |
parathyroid hormone-like hormone |
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ISO |
ClinVar Annotator: match by term: Brachydactyly type E2 |
OMIM 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 |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss |
OMIM ClinVar RGD |
PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:24088041 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28492532 PMID:28637637 PMID:28708303 PMID:29305691 PMID:30071271 PMID:30657467 PMID:32581362 PMID:34008892 PMID:34342181 PMID:35047275 PMID:24468074 More...
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RGD:11576280 |
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Aars1 |
alanyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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G |
Atp2b1 |
ATPase plasma membrane Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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G |
Bltp1 |
bridge-like lipid transfer protein family member 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 PMID:29290337 PMID:31680349 |
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NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Chst14 |
carbohydrate sulfotransferase 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20004762 |
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NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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G |
Col5a1 |
collagen type V alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
DNA:missense mutation:exon:rs1048943 (1384A>G) (p.I462V) (human) |
RGD |
PMID:21254355 |
RGD:11576307 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Talipes equinovarus |
ClinVar |
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25741868 PMID:28492532 PMID:33977142 PMID:35379322 More...
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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G |
Fkbp8 |
FKBP prolyl isomerase 8 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612
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G |
Flnb |
filamin B |
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ISO |
DNA:missense mutations:cds:c.4717G>T (p.D1573Y), c.1897A>G(p.M633V,c.2195A>G (p.Y732C)(human) |
RGD |
PMID:27395407 |
RGD:12791025 |
NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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G |
Fras1 |
Fraser extracellular matrix complex subunit 1 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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G |
Gli3 |
GLI family zinc finger 3 |
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IEP |
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RGD |
PMID:19925654 |
RGD:12738235 |
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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G |
Grip1 |
glutamate receptor interacting protein 1 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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G |
Hoxd12 |
homeo box D12 |
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ISO |
DNA:SNP:5' utr:rs847154 (human) |
RGD |
PMID:16331564 |
RGD:12743594 |
NCBI chr 3:59,577,677...59,578,798
Ensembl chr 3:59,577,677...59,578,798
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G |
Hoxd13 |
homeo box D13 |
|
ISO |
DNA:SNP:exon:rs13392701 (human) |
RGD |
PMID:16331564 |
RGD:12743594 |
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19147669 |
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NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16936070 |
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NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY |
ClinVar |
PMID:25741868 |
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NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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G |
Pitx1 |
paired-like homeodomain 1 |
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ISO |
ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY | ClinVar Annotator: match by term: Clubfoot |
OMIM ClinVar |
PMID:18950742 PMID:22258522 PMID:25741868 PMID:28492532 |
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NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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G |
Ret |
ret proto-oncogene |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital Talipes Equinovarus |
ClinVar |
PMID:18253 PMID:7299413 PMID:16380615 PMID:17033962 PMID:17365175 PMID:17483490 PMID:18253926 PMID:21911697 PMID:25741868 PMID:28492532 PMID:30611313 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
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ISS |
OMIM:119800 |
MouseDO |
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NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Talipes equinovarus |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:21288981 PMID:25741868 PMID:28492532 |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Bilateral talipes equinovarus |
ClinVar |
PMID:23861362 PMID:25741868 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Unc13c |
unc-13 homolog C |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223
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G |
Vangl1 |
VANGL planar cell polarity protein 1 |
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ISO |
ClinVar Annotator: match by term: Clubfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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G |
Bhlha9 |
basic helix-loop-helix family, member a9 |
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ISO |
ClinVar Annotator: match by term: Camptosynpolydactyly, complex |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
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G |
Hoxd10 |
homeo box D10 |
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ISO |
ClinVar Annotator: match by term: Congenital vertical talus |
OMIM ClinVar |
PMID:15146389 PMID:16450407 PMID:25741868 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Gordon syndrome |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:30285720 PMID:31680123 More...
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Tp63 |
tumor protein p63 |
susceptibility |
ISO |
DNA:frameshift mutation, missense mutations: :multiple ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 CTD Direct Evidence: marker/mechanism DNA:nonsense mutation: :p.Q16X (human) DNA:missense mutations:exon:p.R280C, p.R304Q (human) DNA:missense mutation:exon:p.R279H (835G>A) |
ClinVar CTD OMIM RGD |
PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:21078104 PMID:21204238 PMID:21652629 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28166811 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:10535733 PMID:26470833 PMID:12161593 PMID:11903230 More...
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RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 |
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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G |
Dse |
dermatan sulfate epimerase |
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ISO |
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2 |
OMIM ClinVar |
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532 |
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NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
DNA:nonsense mutation:exon:p.R485X (c.1656C>T) (human) ClinVar Annotator: match by term: Eiken syndrome |
ClinVar OMIM RGD |
PMID:15525660 PMID:25741868 PMID:28492532 PMID:29987841 PMID:31297790 PMID:15525660 More...
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RGD:12910707 |
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: flatfoot |
ClinVar |
PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 PMID:15642848 PMID:16615913 PMID:18550408 PMID:18925671 PMID:24398345 PMID:24602495 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Pes planus |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Hoxd10 |
homeo box D10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15146389 PMID:16450407 PMID:24239177 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
ClinVar Annotator: match by term: flatfoot |
ClinVar |
PMID:25741868 |
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NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Wnt7a |
Wnt family member 7A |
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ISO |
ClinVar Annotator: match by term: Fuhrmann syndrome |
OMIM ClinVar |
PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532 |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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G |
Hoxa13 |
homeo box A13 |
|
ISO |
hand-foot-genital syndrome, OMIM:140000 ClinVar Annotator: match by term: Hand-foot-genital syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1442892 PMID:2774004 PMID:5450271 PMID:8673126 PMID:9020844 PMID:10839976 PMID:12073020 PMID:12414828 PMID:17935235 PMID:24239177 PMID:25741868 PMID:9020844 More...
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RGD:1599526 |
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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G |
Hoxa9 |
homeobox A9 |
|
ISO |
ClinVar Annotator: match by term: Hand-foot-genital syndrome |
ClinVar |
|
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NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome |
OMIM ClinVar |
PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 PMID:14564217 PMID:14613973 PMID:16957473 PMID:18034870 PMID:23812909 PMID:24127277 PMID:24497711 PMID:25251565 PMID:25741868 PMID:26942290 PMID:28492532 PMID:31837199 More...
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities | ClinVar Annotator: match by term: Jackson-Weiss syndrome DNA:missense mutation:cds:p.R344G (human) |
OMIM ClinVar RGD |
PMID:7581378 PMID:7719329 PMID:7719344 PMID:7719345 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8528214 PMID:8644708 PMID:8651276 PMID:8957519 PMID:9385368 PMID:9462761 PMID:9586546 PMID:9719378 PMID:10633130 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:12884424 PMID:12884434 PMID:14499350 PMID:14695532 PMID:14972326 PMID:15975938 PMID:16158432 PMID:16418739 PMID:16440883 PMID:16838304 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:25271085 PMID:25741868 PMID:25867380 PMID:26362256 PMID:26380986 PMID:26467025 PMID:26619011 PMID:28492532 PMID:31145570 PMID:7874170 More...
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RGD:12801470 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Laurin-Sandrow syndrome |
OMIM ClinVar |
PMID:16059937 PMID:24456159 |
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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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 3:144,454,306...144,458,757
Ensembl chr 3:144,454,338...144,458,612
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G |
Nog |
noggin |
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ISO |
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome DNA:mutation:cds:1426G>C (P.W205C)(Human) |
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 |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
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G |
Smarca2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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ISO |
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:18414213 PMID:19606471 PMID:22366787 PMID:22426308 PMID:22822383 PMID:23752187 PMID:23929686 PMID:25169058 PMID:25169753 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27099726 PMID:27665729 PMID:28333917 PMID:28492532 PMID:28824374 PMID:30459321 PMID:31785789 More...
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NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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G |
Gja1 |
gap junction protein, alpha 1 |
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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...
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RGD:1578474, RGD:12910132, RGD:8662400, RGD:8662375, RGD:8662372 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Gja1 |
gap junction protein, alpha 1 |
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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...
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NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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G |
Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive |
ClinVar |
PMID:28492532 |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar OMIM |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:24777739 PMID:28492532 More...
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Rnf32 |
ring finger protein 32 |
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ISO |
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome |
ClinVar |
PMID:18178630 |
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NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
DNA:duplication:enhancer |
RGD |
PMID:18417549 |
RGD:12801418 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Lmbr1 |
limb development membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II |
OMIM ClinVar |
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:19519794 PMID:20569257 PMID:24777739 PMID:28492532 More...
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NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Polydactyly, preaxial II |
ClinVar |
PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Shh |
sonic hedgehog signaling molecule |
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ISO |
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RGD |
PMID:20569257 PMID:18463159 |
RGD:12801447, RGD:12801448 |
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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G |
Eif4a3 |
eukaryotic translation initiation factor 4A3 |
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ISO |
ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome |
OMIM ClinVar |
PMID:24360810 |
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NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
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G |
Dlx5 |
distal-less homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss |
OMIM ClinVar |
PMID:22121204 |
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NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
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G |
Snx3 |
sorting nexin 3 |
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ISO |
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OMIM |
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NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379
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G |
Fbln1 |
fibulin 1 |
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ISO |
ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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G |
Gdap1 |
ganglioside-induced differentiation-associated-protein 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:28492532 |
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NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:25741868 |
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NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
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NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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G |
Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:7688964 PMID:8644725 PMID:8797476 PMID:10545037 PMID:10581375 PMID:10737979 PMID:11437164 PMID:12221176 PMID:12477701 PMID:19293842 PMID:20215982 PMID:20461396 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29136549 PMID:29687021 PMID:31211173 PMID:31372974 More...
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NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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G |
Nefl |
neurofilament light chain |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:2288874 PMID:12481988 PMID:15111691 PMID:16452125 PMID:19286384 PMID:20421365 PMID:21168446 PMID:21493625 PMID:23230147 PMID:25741868 PMID:28492532 PMID:31574566 More...
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NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Pes cavus |
ClinVar |
PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532 |
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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G |
Rbm10 |
RNA binding motif protein 10 |
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ISO |
ClinVar Annotator: match by term: TARP syndrome |
OMIM ClinVar |
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 PMID:28492532 PMID:30462380 PMID:32812661 More...
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NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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G |
Nog |
noggin |
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ISO |
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...
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RGD:12801450 |
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
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ISO |
ClinVar Annotator: match by term: Teebi hypertelorism syndrome |
ClinVar |
PMID:17506099 PMID:25412741 PMID:25741868 PMID:25741869 PMID:26111080 PMID:28492532 PMID:30472488 PMID:31953237 More...
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NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Mid1 |
midline 1 |
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ISO |
ClinVar Annotator: match by term: Opitz-Frias syndrome |
ClinVar |
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:20671548 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25741868 PMID:25874572 PMID:28492532 PMID:29456483 More...
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NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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G |
Specc1l |
sperm antigen with calponin homology and coiled-coil domains 1-like |
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ISO |
ClinVar Annotator: match by term: Teebi hypertelorism syndrome 1 |
ClinVar OMIM |
PMID:3228142 PMID:25412741 PMID:25741868 PMID:30472488 PMID:31953237 PMID:32954677 More...
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NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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G |
Cdh11 |
cadherin 11 |
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ISO |
ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2 |
ClinVar OMIM |
PMID:33811546 |
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NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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G |
Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome |
OMIM ClinVar |
PMID:9800904 PMID:10982489 PMID:10982965 PMID:12612583 PMID:15864382 PMID:16417552 PMID:16822260 PMID:17152064 PMID:18414213 PMID:20301567 PMID:20598277 PMID:22522697 PMID:25614868 PMID:25741868 PMID:26059211 PMID:26061098 PMID:26467025 PMID:28492532 PMID:30561107 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Aard |
alanine and arginine rich domain containing protein |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317
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G |
Ccn3 |
cellular communication network factor 3 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019
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G |
Colec10 |
collectin subfamily member 10 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
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G |
Eif3h |
eukaryotic translation initiation factor 3, subunit H |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:83,091,045...83,174,436
Ensembl chr 7:83,091,039...83,174,451
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G |
Enpp2 |
ectonucleotide pyrophosphatase/phosphodiesterase 2 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827
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G |
Ext1 |
exostosin glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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G |
Mal2 |
mal, T-cell differentiation protein 2 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429
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G |
Med30 |
mediator complex subunit 30 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:84,004,710...84,028,064
Ensembl chr 7:84,004,722...84,026,595
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G |
Rad21 |
RAD21 cohesin complex component |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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G |
Samd12 |
sterile alpha motif domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766
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G |
Slc30a8 |
solute carrier family 30 member 8 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305
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G |
Taf2 |
TATA-box binding protein associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Trps1 |
transcriptional repressor GATA binding 1 |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
OMIM ClinVar |
PMID:9536098 PMID:10615131 PMID:10679937 PMID:11112658 PMID:11391482 PMID:11807863 PMID:11950061 PMID:14560312 PMID:15367484 PMID:17576681 PMID:19810120 PMID:20394624 PMID:23451857 PMID:23621477 PMID:24945424 PMID:25741868 PMID:25792522 PMID:26113321 PMID:28170084 PMID:28492532 PMID:29126381 PMID:29499646 PMID:30143558 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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Utp23 |
UTP23, small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III |
ClinVar |
PMID:10679937 PMID:11112658 PMID:11391482 PMID:19810120 PMID:25792522 PMID:28492532 PMID:29126381 More...
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NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
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G |
Dchs1 |
dachsous cadherin-related 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24056717 |
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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G |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Van Maldergem syndrome |
CTD ClinVar |
PMID:24033266 PMID:24056717 |
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NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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G |
Dchs1 |
dachsous cadherin-related 1 |
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ISO |
ClinVar Annotator: match by term: Van Maldergem syndrome 1 |
OMIM ClinVar |
PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 |
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NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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G |
Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Van Maldergem syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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Fat4 |
FAT atypical cadherin 4 |
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ISO |
ClinVar Annotator: match by term: Van Maldergem syndrome 2 |
OMIM ClinVar |
PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868 PMID:28492532 PMID:28878612 PMID:30143558 PMID:31384091 More...
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NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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