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: split hand-foot malformation
Accession: DOID:0090020
browse the term
Definition: A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. (DO)
Synonyms: exact_synonym: lobster-claw deformity; split hand foot deformity; split hand/foot malformation; split-hand deformity
related_synonym: ECD; ectrodactyly
primary_id: MESH:C535777
alt_id: MESH:C574275
xref: GARD:6319 ; MIM:PS183600 ; ORDO:2440
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Btrc
beta-transducin repeat containing E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:21681106
NCBI chr 1:254,159,085...254,324,819
Ensembl chr 1:254,159,124...254,328,357
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Dlx5
distal-less homeobox 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845
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Dpcd
deleted in primary ciliary dyskinesia
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:21681106
NCBI chr 1:254,357,755...254,375,918
Ensembl chr 1:254,357,778...254,375,918
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Fbxw4
F-box and WD repeat domain containing 4
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:21681106
NCBI chr 1:254,375,921...254,465,173
Ensembl chr 1:254,375,923...254,463,277
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:25741868
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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Lbx1
ladybird homeobox 1
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:21681106
NCBI chr 1:254,033,009...254,034,826
Ensembl chr 1:254,033,009...254,034,826
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Lef1
lymphoid enhancer binding factor 1
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:25741868 PMID:35583550
NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:222,340,704...222,453,929
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Map3k20
mitogen-activated protein kinase kinase kinase 20
ISS ISO
ClinVar Annotator: match by term: SPLIT-HAND DEFORMITY
MouseDO ClinVar
PMID:26755636
NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538
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Plaa
phospholipase A2, activating protein
ISO
ClinVar Annotator: match by term: Split hand-foot malformation
ClinVar
PMID:16199547 PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr 5:114,544,327...114,576,023
Ensembl chr 5:114,544,325...114,576,109
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Poll
DNA polymerase lambda
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:21681106
NCBI chr 1:254,349,229...254,357,689
Ensembl chr 1:254,349,231...254,358,020
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Tlx1
T-cell leukemia, homeobox 1
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:21681106
NCBI chr 1:253,954,197...253,960,458
Ensembl chr 1:253,954,197...253,960,458
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Split hand-foot malformation
ClinVar
PMID:25741868
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177
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Uba2
ubiquitin-like modifier activating enzyme 2
ISO
ClinVar Annotator: match by term: Ectrodactyly
ClinVar
PMID:25741868 PMID:34040189
NCBI chr 1:95,912,422...95,939,870
Ensembl chr 1:95,912,430...95,939,901
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Dlx5
distal-less homeobox 5
ISO ISS
OMIM:183600 ClinVar Annotator: match by term: Split hand-foot malformation 1
OMIM MouseDO ClinVar
PMID:24496061 PMID:25196357 PMID:25741868
NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845
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Dlx6
distal-less homeobox 6
ISS ISO
OMIM:183600 ClinVar Annotator: match by term: DLX6-related condition
MouseDO ClinVar
PMID:28492532
NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:35,951,005...35,956,354
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Map3k20
mitogen-activated protein kinase kinase kinase 20
ISO
ClinVar Annotator: match by term: Split-hand/foot malformation 1
ClinVar
PMID:26755636
NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538
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Dlx5
distal-less homeobox 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
OMIM CTD ClinVar
PMID:22121204 PMID:25741868 PMID:28492532
NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845
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Fbxw4
F-box and WD repeat domain containing 4
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:254,375,921...254,465,173
Ensembl chr 1:254,375,923...254,463,277
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Tp63
tumor protein p63
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 4 CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R227Q (c.680G>A) (human) DNA:missense mutation, nonsense mutation, splice-site mutation: :p.K193E, p.Q634X (human)
OMIM ClinVar CTD RGD
PMID:3366140 PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:15736220 PMID:16688749 PMID:17224651 PMID:17576681 PMID:18626511 PMID:18792980 PMID:19353588 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23463580 PMID:24309930 PMID:24449199 PMID:24734328 PMID:25741868 PMID:26882220 PMID:27028492 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30850703 PMID:31050217 PMID:32476291 PMID:34008892 PMID:36099812 PMID:36856110 PMID:23736768 PMID:11462173 More...
RGD:11568644 , RGD:11568638
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177
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Agps
alkylglycerone phosphate synthase
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:81,154,599...81,253,099
Ensembl chr 3:81,154,604...81,258,277
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Atf2
activating transcription factor 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:79,125,814...79,202,896
Ensembl chr 3:79,126,705...79,202,745
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Atp5mc3
ATP synthase membrane subunit c locus 3
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:79,218,014...79,220,664
Ensembl chr 3:79,218,014...79,220,664
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Cdca7
cell division cycle associated 7
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:77,730,315...77,740,950
Ensembl chr 3:77,729,970...77,740,947
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Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,917,329...79,084,040
Ensembl chr 3:78,917,329...79,084,197
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:78,862,286...78,877,353
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Cir1
corepressor interacting with RBPJ, CIR1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,566,438...78,596,309
Ensembl chr 3:78,566,438...78,596,309
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Cybrd1
cytochrome b reductase 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,342,231...76,369,846
Ensembl chr 3:76,342,404...76,370,061
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Dcaf17
DDB1 and CUL4 associated factor 17
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,271,503...76,303,321
Ensembl chr 3:76,271,519...76,303,320
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Dlx1
distal-less homeobox 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,763,864...76,768,454
Ensembl chr 3:76,763,500...76,768,447
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Dlx2
distal-less homeobox 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,777,912...76,781,255
Ensembl chr 3:76,777,912...76,781,255
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Dync1i2
dynein cytoplasmic 1 intermediate chain 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,441,621...76,492,782
Ensembl chr 3:76,424,469...76,492,782
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Erich2
glutamate-rich 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:75,718,573...75,755,447
Ensembl chr 3:75,718,720...75,755,446
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Evx2
even-skipped homeobox 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:79,965,630...79,969,700
Ensembl chr 3:79,965,630...79,969,305
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Gad1
glutamate decarboxylase 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759
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Gorasp2
golgi reassembly stacking protein 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:75,882,607...75,911,322
Ensembl chr 3:75,882,515...75,911,328
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Gpr155
G protein-coupled receptor 155
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,623,931...78,677,803
Ensembl chr 3:78,607,976...78,677,803
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Hat1
histone acetyltransferase 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,624,442...76,672,701
Ensembl chr 3:76,624,869...76,672,696
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Hnrnpa3
heterogeneous nuclear ribonucleoprotein A3
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,984,470...80,999,413
Ensembl chr 3:80,985,969...80,996,043
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Hoxd1
homeo box D1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,073,041...80,075,180
Ensembl chr 3:80,073,041...80,075,180
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Hoxd10
homeo box D10
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,001,947...80,005,156
Ensembl chr 3:80,001,689...80,005,156
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Hoxd11
homeobox D11
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:79,992,394...79,994,688
Ensembl chr 3:79,992,394...79,994,688
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Hoxd12
homeo box D12
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:79,985,106...79,986,227
Ensembl chr 3:79,985,106...79,986,227
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Hoxd13
homeo box D13
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393
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Hoxd3
homeo box D3
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,041,598...80,057,700
Ensembl chr 3:80,046,126...80,057,700
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Hoxd4
homeo box D4
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,021,886...80,041,462
Ensembl chr 3:80,036,900...80,038,948
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Hoxd8
homeobox D8
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,015,223...80,017,789
Ensembl chr 3:80,014,735...80,018,765
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Hoxd9
homeo box D9
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,008,006...80,010,186
Ensembl chr 3:80,007,668...80,010,171
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Ift70a2
intraflagellar transport 70A2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:81,306,455...81,308,896
Ensembl chr 3:81,307,245...81,320,093
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Ift70b
intraflagellar transport 70B
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:81,263,074...81,265,645
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Itga6
integrin subunit alpha 6
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:77,012,168...77,097,076
Ensembl chr 3:77,017,766...77,097,076
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Lnpk
lunapark, ER junction formation factor
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:79,826,318...79,894,514
Ensembl chr 3:79,832,753...79,894,403
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Map3k20
mitogen-activated protein kinase kinase kinase 20
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538
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Metap1d
methionyl aminopeptidase type 1D (mitochondrial)
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,687,149...76,759,681
Ensembl chr 3:76,687,171...76,759,655
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Mettl8
methyltransferase 8, tRNA N3-cytidine
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,140,465...76,271,367
Ensembl chr 3:76,144,178...76,271,400
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Mir10b
microRNA 10b
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,035,859...80,035,967
Ensembl chr 3:80,035,859...80,035,967
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Mtx2
metaxin 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:80,137,556...80,199,547
Ensembl chr 3:80,137,581...80,271,684
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090
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Ola1
Obg-like ATPase 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,374,440...78,493,401
Ensembl chr 3:78,374,441...78,492,012
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Pde11a
phosphodiesterase 11A
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:81,320,822...81,704,397
Ensembl chr 3:81,320,822...81,680,612
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Pdk1
pyruvate dehydrogenase kinase 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:77,113,464...77,144,145
Ensembl chr 3:77,113,473...77,144,145
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Rapgef4
Rap guanine nucleotide exchange factor 4
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:77,217,024...77,509,933
Ensembl chr 3:77,217,039...77,509,978
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Scrn3
secernin 3
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,596,330...78,621,132
Ensembl chr 3:78,596,386...78,621,132
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Slc25a12
solute carrier family 25 member 12
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:76,504,868...76,599,536
Ensembl chr 3:76,504,868...76,599,536
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Sp3
Sp3 transcription factor
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,219,421...78,272,318
Ensembl chr 3:78,219,426...78,264,517
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Sp5
Sp5 transcription factor
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:75,682,677...75,685,479
Ensembl chr 3:75,682,677...75,685,479
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Sp9
Sp9 transcription factor
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,554,345...78,556,875
Ensembl chr 3:78,554,206...78,558,072
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Tlk1
tousled-like kinase 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:75,928,303...76,035,246
Ensembl chr 3:75,928,303...76,035,059
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Wipf1
WAS/WASL interacting protein family, member 1
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 5
ClinVar
PMID:25741868
NCBI chr 3:78,721,486...78,824,199
Ensembl chr 3:78,714,299...78,780,277
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Wnt10b
Wnt family member 10B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Split hand-foot malformation 6 | ClinVar Annotator: match by term: WNT10B-related condition
OMIM CTD ClinVar
PMID:12072797 PMID:18515319 PMID:20635353 PMID:25741868 PMID:27321946 PMID:28492532 PMID:29364501 PMID:31050392 PMID:31502745 PMID:34394812 More...
NCBI chr 7:131,801,046...131,806,850
Ensembl chr 7:131,801,046...131,806,850
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Map3k20
mitogen-activated protein kinase kinase kinase 20
ISO
ClinVar Annotator: match by term: Split-foot malformation with mesoaxial polydactyly
OMIM ClinVar
PMID:25741868 PMID:26755636 PMID:27816943 PMID:28492532 PMID:30237576 PMID:31130284 PMID:36135330 PMID:39825153 More...
NCBI chr 3:77,538,146...77,697,540
Ensembl chr 3:77,537,956...77,697,538
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Bhlha9
basic helix-loop-helix family, member a9
ISO
ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome
ClinVar
PMID:25741868
NCBI chr10:62,011,787...62,012,908
Ensembl chr10:62,011,787...62,012,908
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Trarg1
trafficking regulator of GLUT4 (SLC2A4) 1
ISO
ClinVar Annotator: match by term: Chromosome 17P13.3, telomeric, duplication syndrome
ClinVar
PMID:25741868
NCBI chr10:62,019,281...62,039,666
Ensembl chr10:62,019,189...62,039,648
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all