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G |
Ecel1 |
endothelin converting enzyme-like 1 |
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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 |
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NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
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Fbn2 |
fibrillin 2 |
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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 |
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NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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Klhl7 |
kelch-like family member 7 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:18414213 PMID:25741868 PMID:29074562 |
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NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
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G |
Mybpc1 |
myosin binding protein C1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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Mylpf |
myosin light chain, phosphorylatable, fast skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:32707087 |
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NCBI chr 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
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Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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Tnni2 |
troponin I2, fast skeletal type |
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ISO ISS |
ClinVar Annotator: match by term: Distal arthrogryposis ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal 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 MouseDO |
PMID:12592607 PMID:17101001 PMID:25741868 |
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NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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Tnnt3 |
troponin T3, fast skeletal type |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 |
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NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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G |
Fbn2 |
fibrillin 2 |
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ISO |
ClinVar Annotator: match by term: Congenital contractural arachnodactyly ClinVar Annotator: match by OMIM:121050 ClinVar Annotator: match by null |
ClinVar OMIM |
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9106527 PMID:9199560 PMID:9737771 PMID:10612827 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11754102 PMID:15121784 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:20301560 PMID:20799338 PMID:22325249 PMID:22438950 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:27196565 PMID:28492532 PMID:29907982 PMID:29926239 PMID:30675029 PMID:31316167, PMID:11754102 |
RGD:1300364 |
NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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Cntnap1 |
contactin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25326635 PMID:25741868 PMID:28374019 PMID:32214227 |
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NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
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NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Myh8 |
myosin heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1A |
OMIM ClinVar |
PMID:7977374 PMID:11738357 PMID:12592607 PMID:17194691 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 PMID:19047562 PMID:22084935 PMID:22832343 PMID:22980765 PMID:23689010 PMID:23757202 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:26467025 PMID:26752647 PMID:28492532 |
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NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Mybpc1 |
myosin binding protein C1 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 1B ClinVar Annotator: match by OMIM:614335 |
OMIM ClinVar |
PMID:18414213 PMID:20045868 PMID:22415774 PMID:23657818 PMID:23873045 PMID:25741868 PMID:26287277 PMID:28492532 |
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NCBI chr 7:29,086,159...29,171,909
Ensembl chr 7:29,086,156...29,171,783
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G |
Mylpf |
myosin light chain, phosphorylatable, fast skeletal muscle |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 1C |
OMIM ClinVar |
PMID:32707087 |
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NCBI chr 1:198,655,835...198,658,590
Ensembl chr 1:198,655,742...198,658,583
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
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OMIM |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
DNA:missense mutation:exon:p.A234T (769C>T) (human) ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
ClinVar |
PMID:16642020 PMID:18414213 PMID:19142688 PMID:25741868 PMID:28492532 PMID:28779239 PMID:29805041, PMID:18695058 |
RGD:12792960 |
NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Tnni2 |
troponin I2, fast skeletal type |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
CTD ClinVar |
PMID:12592607 PMID:17101001 PMID:23850728 PMID:25741868 PMID:28492532 |
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NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B ClinVar Annotator: match by term: Arthyrgryposis, distal, type 2B |
ClinVar |
PMID:10525521 PMID:12865991 PMID:18414213 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 PMID:28492532 |
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NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 2B |
ClinVar |
PMID:25741868 |
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NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Tnni2 |
troponin I2, fast skeletal type |
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ISO |
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OMIM |
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NCBI chr 1:215,609,110...215,611,652
Ensembl chr 1:215,609,036...215,611,658
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G |
Tnnt3 |
troponin T3, fast skeletal type |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 |
ClinVar OMIM |
PMID:10525521 PMID:12865991 PMID:19142688 PMID:21402185 PMID:25337069 PMID:25741868 |
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NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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G |
Myh3 |
myosin heavy chain 3 |
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ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 |
OMIM ClinVar |
PMID:16642020 PMID:18695058 PMID:25741868 PMID:28492532 PMID:29625835 PMID:29805041 PMID:30826400 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 |
ClinVar |
PMID:17339586 PMID:23678273 PMID:27726070 PMID:30285720 |
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NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA ClinVar Annotator: match by OMIM:114300 |
OMIM ClinVar |
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:30285720 PMID:31680123 |
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NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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G |
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 ClinVar Annotator: match by term: Oculomelic amyoplasia ClinVar Annotator: match by OMIM:108145 |
OMIM ClinVar |
PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 PMID:23487782 PMID:24726473 PMID:25741868 PMID:27714920 PMID:31680123 PMID:32860008 |
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NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISO |
ClinVar Annotator: match by term: Distal arthrogryposis type 5D ClinVar Annotator: match by term: Arthrogryposis, distal, type 5d ClinVar Annotator: match by OMIM:615065 |
OMIM ClinVar |
PMID:23236030 PMID:23261301 PMID:25099528 PMID:25741868 PMID:26752647 |
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NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
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G |
Fbn2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Beals-Hecht syndrome ClinVar Annotator: match by term: Hecht syndrome |
ClinVar |
PMID:3495735 PMID:4750422 PMID:8653794 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28492532 PMID:29926239 |
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NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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G |
Myh8 |
myosin heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: Hecht syndrome DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human) ClinVar Annotator: match by OMIM:158300 |
OMIM ClinVar |
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 |
RGD:12914760 |
NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Arthrogryposis, distal, with impaired proprioception and touch |
ClinVar OMIM |
PMID:25741868 PMID:27607563 PMID:27653382 PMID:27843126 PMID:27974811 PMID:28492532 PMID:31680123 |
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NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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G |
Myh3 |
myosin heavy chain 3 |
|
ISO |
ClinVar Annotator: match by OMIM:193700 ClinVar Annotator: match by term: Freeman-Sheldon syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16642020 PMID:18414213 PMID:18695058 PMID:19142688 PMID:25741868 PMID:28492532 PMID:29805041 PMID:30379605 PMID:30826400 |
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NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
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G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
|
ISO |
associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) |
RGD |
PMID:17435464 |
RGD:11558012 |
NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
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G |
Magel2 |
MAGE family member L2 |
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ISO |
ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar Annotator: match by OMIM:615547 |
OMIM ClinVar |
PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25741868 PMID:26365340 PMID:26633545 PMID:27195816 PMID:28281571 PMID:29581464 PMID:29599419 PMID:31397880 PMID:31680349 PMID:32860008 |
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NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
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G |
Sim1 |
SIM bHLH transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Schaaf-yang syndrome |
ClinVar |
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NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
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G |
Uba1 |
ubiquitin-like modifier activating enzyme 1 |
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ISO |
ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2 ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, X-linked ClinVar Annotator: match by OMIM:301830 |
OMIM ClinVar |
PMID:18179898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33108101 |
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NCBI chr X:1,723,135...1,745,147
Ensembl chr X:1,723,174...1,741,701
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G |
Zc4h2 |
zinc finger C4H2-type containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23623388 |
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NCBI chr X:64,887,978...64,908,682
Ensembl chr X:64,887,978...64,908,682
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