RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Lower Extremity Deformities, Congenital
Accession: DOID:9007794
browse the term
Definition: Congenital structural abnormalities of the LOWER EXTREMITY.
Synonyms: exact_synonym: Lower Limb Deformities, Congenital
primary_id: MESH:D038061 ; RDO:0000381
For additional species annotation, visit the
Alliance of Genome Resources .
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Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9409668
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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Lmbr1
limb development membrane protein 1
ISO
ClinVar Annotator: match by term: Acheiropodia
OMIM ClinVar
PMID:11090342 PMID:33863876
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1
OMIM ClinVar
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 PMID:23610050 PMID:25326635 PMID:25741868 PMID:26752647 PMID:28492532 PMID:28940926 More...
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2
OMIM ClinVar
PMID:25691407
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Brachydactyly syndrome type E
ClinVar
PMID:25741868 PMID:33537682
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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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...
NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963
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Pthlh
parathyroid hormone-like hormone
ISO
ClinVar Annotator: match by term: Brachydactyly type E2
OMIM ClinVar
PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 PMID:31283647 More...
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
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...
RGD:11576280
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Aars1
alanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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Atp2b1
ATPase plasma membrane Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295
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Bltp1
bridge-like lipid transfer protein family member 1
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868 PMID:29290337 PMID:31680349
NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
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Cc2d2a
coiled-coil and C2 domain containing 2A
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:16199547 PMID:19466712 PMID:19777577 PMID:25741868 PMID:26092869 PMID:28492532 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Chst14
carbohydrate sulfotransferase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20004762
NCBI chr 3:105,916,481...105,918,538
Ensembl chr 3:105,916,466...105,918,548
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
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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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...
NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Fkbp8
FKBP prolyl isomerase 8
ISS
OMIM:119800
MouseDO
NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612
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Flnb
filamin B
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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Fras1
Fraser extracellular matrix complex subunit 1
ISS
OMIM:119800
MouseDO
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
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Gli3
GLI family zinc finger 3
IEP
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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Grip1
glutamate receptor interacting protein 1
ISS
OMIM:119800
MouseDO
NCBI chr 7:54,934,856...55,592,274
Ensembl chr 7:54,934,250...55,592,273
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Hoxd12
homeo box D12
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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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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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...
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19147669
NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16936070
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nsd2
nuclear receptor binding SET domain protein 2
ISO
ClinVar Annotator: match by term: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
ClinVar
PMID:25741868
NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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Pitx1
paired-like homeodomain 1
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
NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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Ret
ret proto-oncogene
ISS
OMIM:119800
MouseDO
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Ryr1
ryanodine receptor 1
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...
NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Tcirg1
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3
ISS
OMIM:119800
MouseDO
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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Tnfrsf13b
TNF receptor superfamily member 13B
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...
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:21288981 PMID:25741868 PMID:28492532
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Ttn
titin
ISO
ClinVar Annotator: match by term: Bilateral talipes equinovarus
ClinVar
PMID:23861362 PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Unc13c
unc-13 homolog C
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr 8:74,247,026...74,697,629
Ensembl chr 8:74,247,899...74,673,223
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Vangl1
VANGL planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Clubfoot
ClinVar
PMID:25741868
NCBI chr 2:189,586,681...189,637,609
Ensembl chr 2:189,589,229...189,637,619
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Bhlha9
basic helix-loop-helix family, member a9
ISO
ClinVar Annotator: match by term: Camptosynpolydactyly, complex
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:61,513,609...61,514,301
Ensembl chr10:61,513,609...61,514,301
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Fgd1
FYVE, RhoGEF and PH domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11940089
NCBI chr X:20,023,746...20,066,730
Ensembl chr X:20,023,746...20,066,566
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Fgfr1
Fibroblast growth factor receptor 1
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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Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15996213
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20170896
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11462173
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Hoxd10
homeo box D10
ISO
ClinVar Annotator: match by term: Congenital vertical talus
OMIM ClinVar
PMID:15146389 PMID:16450407 PMID:25741868
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Piezo2
piezo-type mechanosensitive ion channel component 2
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...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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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...
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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Dse
dermatan sulfate epimerase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2
OMIM ClinVar
PMID:23704329 PMID:25703627 PMID:25741868 PMID:28492532
NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992
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Pth1r
parathyroid hormone 1 receptor
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...
RGD:12910707
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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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...
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Pes planus
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15146389 PMID:16450407 PMID:24239177
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Jag1
jagged canonical Notch ligand 1
ISO
ClinVar Annotator: match by term: flatfoot
ClinVar
PMID:25741868
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Wnt7a
Wnt family member 7A
ISO
ClinVar Annotator: match by term: Fuhrmann syndrome
OMIM ClinVar
PMID:9128926 PMID:16826533 PMID:25741868 PMID:28492532
NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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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...
RGD:1599526
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
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Hoxa9
homeobox A9
ISO
ClinVar Annotator: match by term: Hand-foot-genital syndrome
ClinVar
NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358
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Sall4
spalt-like transcription factor 4
ISO
DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:30067223 PMID:12843316
RGD:11556209
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Tbx5
T-box transcription factor 5
ISO
ClinVar Annotator: match by term: Holt-Oram syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.G125R (human) DNA:missense mutations, deletion:cds:multiple
OMIM ClinVar CTD RGD
PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 PMID:10842287 PMID:11183182 PMID:11431700 PMID:11555635 PMID:12499378 PMID:12624158 PMID:12789647 PMID:12818525 PMID:14402857 PMID:15096952 PMID:15355425 PMID:15735645 PMID:16183809 PMID:16917909 PMID:17534187 PMID:18451335 PMID:18706711 PMID:19648116 PMID:20450920 PMID:20519243 PMID:21637475 PMID:21897873 PMID:22333898 PMID:24033266 PMID:24664498 PMID:25216260 PMID:25260786 PMID:25263169 PMID:25623069 PMID:25680289 PMID:25741868 PMID:25931334 PMID:26219450 PMID:26401820 PMID:26490186 PMID:26762269 PMID:26859351 PMID:26938784 PMID:28166811 PMID:28492532 PMID:28855715 PMID:29755943 PMID:30552424 PMID:31215120 PMID:32236096 PMID:34917776 PMID:11572777 PMID:18451335 PMID:20519243 More...
RGD:1578428 , RGD:7327219 , RGD:7327217
NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
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Tgfb2
transforming growth factor, beta 2
ISO
ClinVar Annotator: match by term: Holt-Oram syndrome
ClinVar
PMID:24465802 PMID:25741868 PMID:26017485 PMID:28492532 PMID:28633253 PMID:28655553 More...
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Fgfr1
Fibroblast growth factor receptor 1
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...
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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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...
RGD:12801470
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Gpc4
glypican 4
ISO
ClinVar Annotator: match by term: Keipert syndrome
OMIM ClinVar
PMID:4708024 PMID:25741868 PMID:30982611
NCBI chr X:131,644,711...131,755,349
Ensembl chr X:131,644,704...131,755,284
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Lmbr1
limb development membrane protein 1
ISO
ClinVar Annotator: match by term: Laurin-Sandrow syndrome
OMIM ClinVar
PMID:16059937 PMID:24456159
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Fgf9
fibroblast growth factor 9
ISO
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
ClinVar
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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Gdf5
growth differentiation factor 5
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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Nog
noggin
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...
RGD:1600234 , RGD:12801467
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar
PMID:25741868
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Cdkl5
cyclin-dependent kinase-like 5
ISO
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar
PMID:25741868
NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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Rs1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome
ClinVar
PMID:25741868
NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
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...
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Gja1
gap junction protein, alpha 1
ISO
DNA:missense mutation:cds:p.P59H (human) ClinVar Annotator: match by term: Oculodentodigital dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:cd:p.G138R(mouse) DNA:missense mutation: :p.H194P (human) DNA:missense mutations, duplication:multiple (human) DNA:missense mutation:cds:p.G60S (mouse)
ClinVar CTD OMIM RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:25741868 PMID:28492532 PMID:16219735 PMID:18003637 PMID:15637728 PMID:12457340 PMID:16155213 More...
RGD:1578474 , RGD:12910132 , RGD:8662400 , RGD:8662375 , RGD:8662372
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
OMIM ClinVar
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 PMID:15192806 PMID:16816024 PMID:18079109 PMID:19057520 PMID:19615768 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23951358 PMID:25398053 PMID:25741868 PMID:28492532 PMID:30653986 More...
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Tbc1d32
TBC1 domain family, member 32
ISO
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive
ClinVar
PMID:28492532
NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Met
MET proto-oncogene, receptor tyrosine kinase
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteofibrous dysplasia
CTD ClinVar OMIM
PMID:1270474 PMID:9234973 PMID:11042681 PMID:12920089 PMID:14559814 PMID:15592501 PMID:16203897 PMID:21774103 PMID:21970370 PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26637977 PMID:28259294 PMID:28492532 PMID:29641532 PMID:32830346 More...
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Lmbr1
limb development membrane protein 1
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...
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar
PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rnf32
ring finger protein 32
ISO
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar
PMID:18178630
NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257
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Shh
sonic hedgehog signaling molecule
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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Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM ClinVar
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19734457 PMID:20803643 PMID:22440537 PMID:22488974 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 More...
NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO ISS
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650
ClinVar MouseDO
NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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Lmbr1
limb development membrane protein 1
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...
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Polydactyly, preaxial II
ClinVar
PMID:12204003 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Shh
sonic hedgehog signaling molecule
ISO
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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Eif4a3
eukaryotic translation initiation factor 4A3
ISO
ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome
OMIM ClinVar
PMID:24360810
NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
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Dlx5
distal-less homeobox 5
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
OMIM ClinVar
PMID:22121204
NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
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Snx3
sorting nexin 3
ISO
OMIM
NCBI chr20:45,992,446...46,025,361
Ensembl chr20:45,992,720...46,025,379
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Fbln1
fibulin 1
ISO
ClinVar Annotator: match by term: SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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Gdap1
ganglioside-induced differentiation-associated-protein 1
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
PMID:28492532
NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
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Gjb1
gap junction protein, beta 1
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
PMID:25741868
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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Hars1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
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Mpz
myelin protein zero
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...
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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Nefl
neurofilament light chain
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...
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Pes cavus
ClinVar
PMID:25741868 PMID:26392352 PMID:26467025 PMID:26872463 PMID:28492532
NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Rbm10
RNA binding motif protein 10
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...
NCBI chr X:1,540,399...1,572,571
Ensembl chr X:1,540,398...1,572,575
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Nog
noggin
ISO
ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
OMIM ClinVar RGD
PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:17245852 PMID:25741868 PMID:26211601 More...
RGD:12801450
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
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...
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Mid1
midline 1
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...
NCBI chr X:24,116,674...24,491,205
Ensembl chr X:24,120,293...24,248,353
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
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...
NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665
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Cdh11
cadherin 11
ISO
ClinVar Annotator: match by term: Teebi hypertelorism syndrome 2
ClinVar OMIM
PMID:33811546
NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
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Flna
filamin A
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...
NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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Aard
alanine and arginine rich domain containing protein
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...
NCBI chr 7:83,364,478...83,369,319
Ensembl chr 7:83,364,204...83,369,317
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Ccn3
cellular communication network factor 3
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...
NCBI chr 7:86,094,000...86,101,022
Ensembl chr 7:86,094,000...86,101,019
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Colec10
collectin subfamily member 10
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...
NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
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Eif3h
eukaryotic translation initiation factor 3, subunit H
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...
NCBI chr 7:83,091,045...83,174,436
Ensembl chr 7:83,091,039...83,174,451
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Enpp2
ectonucleotide pyrophosphatase/phosphodiesterase 2
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...
NCBI chr 7:86,202,345...86,325,050
Ensembl chr 7:86,202,350...86,324,827
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Ext1
exostosin glycosyltransferase 1
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...
NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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Mal2
mal, T-cell differentiation protein 2
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...
NCBI chr 7:85,900,453...85,933,433
Ensembl chr 7:85,900,453...85,933,429
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Med30
mediator complex subunit 30
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...
NCBI chr 7:84,004,710...84,028,064
Ensembl chr 7:84,004,722...84,026,595
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Rad21
RAD21 cohesin complex component
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...
NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Samd12
sterile alpha motif domain containing 12
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...
NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766
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Slc30a8
solute carrier family 30 member 8
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...
NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305
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Taf2
TATA-box binding protein associated factor 2
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...
NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
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Tnfrsf11b
TNF receptor superfamily member 11B
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...
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
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...
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
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...
NCBI chr 7:83,185,187...83,196,652
Ensembl chr 7:83,189,656...83,196,655
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Dchs1
dachsous cadherin-related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24056717
NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Van Maldergem syndrome
CTD ClinVar
PMID:24033266 PMID:24056717
NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
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Dchs1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Van Maldergem syndrome 1
OMIM ClinVar
PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532
NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Van Maldergem syndrome 1
ClinVar
PMID:28492532
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
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...
NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all