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: distal arthrogryposis
Accession: DOID:0050646
browse the term
Definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)
Synonyms: exact_synonym: distal arthrogryposis multiplex congenita
narrow_synonym: DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT
xref: GARD:786 ; MIM:PS108120 ; ORDO:1147 ; ORDO:97120
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Ecel1
endothelin converting enzyme-like 1
ISS
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065
MouseDO
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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Fbn2
fibrillin 2
ISS
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065
MouseDO
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:18414213 PMID:25741868 PMID:29074562
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Mybpc1
myosin binding protein C1
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:25741868
NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myl11
myosin light chain 11
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:32707087
NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:25741868
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:25741868
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Tnni2
troponin I2, fast skeletal type
ISS ISO
OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis
MouseDO ClinVar
PMID:12592607 PMID:17101001 PMID:17194691 PMID:25741868
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal | ClinVar Annotator: match by term: Distal arthrogryposis
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Usp14
ubiquitin specific peptidase 14
ISO
ClinVar Annotator: match by term: Distal arthrogryposis and CNS involvement
ClinVar
PMID:25741868 PMID:35066879
NCBI chr18:1,018,111...1,057,727
Ensembl chr18:1,019,400...1,057,519
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9605585 PMID:9714438 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 PMID:16199547 PMID:16531736 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24585410 PMID:24833718 PMID:24899048 PMID:25046119 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:27196565 PMID:28166811 PMID:28383543 PMID:28492532 PMID:28518168 PMID:28831199 PMID:29501612 PMID:29742989 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30029678 PMID:30675029 PMID:31096651 PMID:31316167 PMID:31506931 PMID:32123317 PMID:32277046 PMID:32461654 PMID:32534992 PMID:32702406 PMID:33029862 PMID:33190788 PMID:33340101 PMID:33435129 PMID:33571691 PMID:33638605 PMID:33895855 PMID:34008892 PMID:34355836 PMID:35360850 PMID:35419902 PMID:11754102 More...
RGD:1300364
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
ClinVar
PMID:30777867
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Myh8
myosin heavy chain 8
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
ClinVar
PMID:25741868
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I
ClinVar
PMID:17339586 PMID:19155175 PMID:23401156 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 PMID:28492532 PMID:29068549 PMID:32092148 More...
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 11
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:30777867
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Adamts15
ADAM metallopeptidase with thrombospondin type 1 motif, 15
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 12
OMIM ClinVar
PMID:35962790
NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Aqp3
aquaporin 3 (Gill blood group)
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Aqp7
aquaporin 7
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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B4galt1
beta-1,4-galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
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Bag1
BAG cochaperone 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Chmp5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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Cntnap1
contactin associated protein 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
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Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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Dcaf12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
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Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnaja1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
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Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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Fbxo10
F-box protein 10
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
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Frmpd1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
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Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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Kif24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
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Melk
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:30777867
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:25741868
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myh8
myosin heavy chain 8
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:25741868
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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Ndufb6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
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Nfx1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
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Nol6
nucleolar protein 6
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
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Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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Nudt2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
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Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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Pax5
paired box 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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Polr1e
RNA polymerase I subunit E
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
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Prss3
serine protease 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Rnf38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
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Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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Smu1
SMU1, DNA replication regulator and spliceosomal factor
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
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Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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Spink4
serine peptidase inhibitor, Kazal type 4
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
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Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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Tln1
talin 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tmem215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
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Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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Tomm5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
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Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
OMIM ClinVar
PMID:7977374 PMID:9536098 PMID:11738357 PMID:12592607 PMID:16199547 PMID:17194691 PMID:17339586 PMID:17576681 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:18789687 PMID:19047562 PMID:19155175 PMID:20301436 PMID:22084935 PMID:22749895 PMID:22832343 PMID:22980765 PMID:23401156 PMID:23678273 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24214167 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26708479 PMID:26752647 PMID:27726070 PMID:27854218 PMID:28492532 PMID:29068549 PMID:30545627 PMID:31966463 PMID:32092148 PMID:33060286 More...
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Trmt10b
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
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Ubap1
ubiquitin-associated protein 1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
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Ubap2
ubiquitin-associated protein 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
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Ube2r2
ubiquitin-conjugating enzyme E2R 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
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Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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Zbtb5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
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Zcchc7
zinc finger CCHC-type containing 7
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A
ClinVar
PMID:28492532
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
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Mybpc1
myosin binding protein C1
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1B
OMIM ClinVar
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 PMID:25741868 PMID:26287277 PMID:28492532 More...
NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957
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Myl11
myosin light chain 11
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C
OMIM ClinVar
PMID:25741868 PMID:32707087
NCBI chr 1:181,829,703...181,832,546
Ensembl chr 1:181,829,743...181,832,545
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2A (Freeman-Sheldon)
OMIM ClinVar
PMID:16642020 PMID:18695058 PMID:19142688 PMID:25256237 PMID:25741868 PMID:28492532 PMID:30826400 PMID:34136434 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Myh3
myosin heavy chain 3
ISO
DNA:missense mutation:exon:p.A234T (769C>T) (human) ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities
ClinVar RGD
PMID:16642020 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:18695058 More...
RGD:12792960
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Tnni2
troponin I2, fast skeletal type
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B
ClinVar
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 PMID:25337069 PMID:25741868 PMID:31974414 More...
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1
ClinVar
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Tnni2
troponin I2, fast skeletal type
ISO
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1
OMIM ClinVar
PMID:12592607 PMID:17101001 PMID:17194691 PMID:23401156 PMID:23850728 PMID:25340332 PMID:25741868 PMID:26526134 PMID:27790376 PMID:28492532 More...
NCBI chr 1:197,595,012...197,597,554
Ensembl chr 1:197,594,813...197,597,560
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Distal arthrogryposis type 2B1
ClinVar
PMID:25741868
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2
OMIM ClinVar
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:24319099 PMID:25337069 PMID:25741868 PMID:31974414 More...
NCBI chr 1:197,652,535...197,669,736
Ensembl chr 1:197,652,431...197,669,535
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Myh3
myosin heavy chain 3
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B3 (Sheldon-Hall)
OMIM ClinVar
PMID:16642020 PMID:18414213 PMID:18695058 PMID:25256237 PMID:25741868 PMID:26578207 PMID:28492532 PMID:29625835 PMID:29805041 PMID:30826400 PMID:31030430 PMID:34136434 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4
ClinVar
PMID:17339586 PMID:23678273 PMID:24692096 PMID:25741868 PMID:27726070 PMID:28492532 PMID:29068549 PMID:30285720 PMID:32092148 More...
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome
OMIM ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 PMID:27714920 PMID:27843126 PMID:28492532 PMID:30285720 PMID:31680123 PMID:36474027 PMID:39033378 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
OMIM ClinVar
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:28492532 PMID:31680123 PMID:32860008 PMID:32901917 PMID:39033378 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Ecel1
endothelin converting enzyme-like 1
ISO
ClinVar Annotator: match by term: Distal arthrogryposis type 5D
OMIM ClinVar
PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 PMID:25173900 PMID:25741868 PMID:26752647 PMID:28492532 PMID:30792901 PMID:31694722 PMID:32566668 PMID:33060286 PMID:33672664 PMID:33820833 PMID:33966749 PMID:39033378 More...
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition
ClinVar
PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 PMID:16199547 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:26257771 PMID:28166811 PMID:28492532 PMID:28518168 PMID:28831199 PMID:29907982 PMID:29910053 PMID:29926239 PMID:30675029 PMID:31096651 PMID:31316167 PMID:32277046 PMID:32461654 PMID:33029862 PMID:33190788 PMID:33435129 PMID:33571691 PMID:34008892 More...
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Myh8
myosin heavy chain 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
OMIM CTD ClinVar RGD
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532 PMID:17041932 More...
RGD:12914760
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch
OMIM ClinVar
PMID:8423615 PMID:9536098 PMID:11152147 PMID:17576681 PMID:24726473 PMID:25741868 PMID:27607563 PMID:27653382 PMID:27714920 PMID:27843126 PMID:27974811 PMID:28492532 PMID:31680123 PMID:39033378 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Myh3
myosin heavy chain 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniocarpotarsal dysplasia | ClinVar Annotator: match by term: Freeman-Sheldon syndrome
CTD ClinVar
PMID:9536098 PMID:16642020 PMID:17576681 PMID:18414213 PMID:18695058 PMID:19142688 PMID:20924721 PMID:23265383 PMID:25256237 PMID:25740846 PMID:25741868 PMID:26945064 PMID:26996280 PMID:28492532 PMID:28584669 PMID:30379605 PMID:30826400 PMID:31030430 PMID:32732226 PMID:34136434 PMID:35169139 More...
NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992
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Cyfip1
cytoplasmic FMR1 interacting protein 1
ISO
associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human)
RGD
PMID:17435464
RGD:11558012
NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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Magel2
MAGE family member L2
ISO
ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome
OMIM ClinVar
PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 PMID:25741868 PMID:26365340 PMID:26633545 PMID:27195816 PMID:27632685 PMID:28281571 PMID:28492532 PMID:29581464 PMID:29599419 PMID:29660409 PMID:30302899 PMID:31152388 PMID:31397880 PMID:31680349 PMID:32860008 PMID:33371171 More...
NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250
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Sim1
SIM bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar
PMID:25741868
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
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Uba1
ubiquitin-like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 PMID:25075304 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29034082 PMID:32181232 PMID:33108101 PMID:33369814 PMID:33690815 PMID:33789873 PMID:34048852 PMID:34647982 PMID:34649277 PMID:35793467 PMID:36038944 PMID:36662445 More...
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
G
Zc4h2
zinc finger C4H2-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23623388
NCBI chr X:60,525,706...60,546,519
Ensembl chr X:60,525,712...60,546,488
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all