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Adcy9 |
adenylate cyclase 9 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 |
ClinVar |
PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Cdip1 |
cell death-inducing p53 target 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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Coro7 |
coronin 7 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 |
ClinVar OMIM RGD |
PMID:7630403 PMID:8967953 PMID:9536098 PMID:11331617 PMID:12070251 PMID:12114483 PMID:12566391 PMID:14974086 PMID:15706485 PMID:16021471 PMID:16199547 PMID:16359492 PMID:16980541 PMID:17052327 PMID:17576681 PMID:17855048 PMID:18414213 PMID:18792986 PMID:20358623 PMID:20583168 PMID:20684013 PMID:21390126 PMID:21680795 PMID:21796119 PMID:21932317 PMID:21984751 PMID:22591219 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:24088041 PMID:24728327 PMID:25108505 PMID:25388907 PMID:25599811 PMID:25640679 PMID:25741868 PMID:25741869 PMID:25805166 PMID:26087898 PMID:26486927 PMID:26619011 PMID:26633545 PMID:26788536 PMID:27257017 PMID:27257180 PMID:27311832 PMID:28492532 PMID:28523540 PMID:28707430 PMID:28970362 PMID:29460469 PMID:29551561 PMID:33560380 PMID:10673499 More...
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RGD:734820 |
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dnaaf8 |
dynein axonemal assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
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Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
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Dnase1 |
deoxyribonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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Ep300 |
E1A binding protein p300 |
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ISO |
DNA:nonsense mutation, deletions:exons, 5' utr:p.R648X, c.2877_2884del, c.-1200-?_94+?del (human) ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 DNA:nonsense mutation, deletions:multiple (human) |
ClinVar OMIM RGD |
PMID:10700188 PMID:15706485 PMID:16199547 PMID:17299436 PMID:18414213 PMID:18792986 PMID:19353645 PMID:20014264 PMID:20301699 PMID:21679367 PMID:24033266 PMID:24352918 PMID:24476420 PMID:24728327 PMID:25326635 PMID:25712426 PMID:25741868 PMID:26486927 PMID:27159028 PMID:27465822 PMID:27648933 PMID:28166811 PMID:28492532 PMID:29133209 PMID:29300383 PMID:29706646 PMID:30076641 PMID:32860008 PMID:15706485 PMID:17220215 More...
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RGD:1580966, RGD:7296921 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Glis2 |
GLIS family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Hmox2 |
heme oxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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LOC100361104 |
CG10869-like |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,707,529...10,750,893
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Mefv |
MEFV innate immuity regulator, pyrin |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mgrn1 |
mahogunin ring finger 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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Naa60 |
N(alpha)-acetyltransferase 60, NatF catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755
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Nlrc3 |
NLR family, CARD domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398
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Nmral1 |
NmrA like redox sensor 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
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Nudt16l1 |
nudix hydrolase 16 like 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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Olr1356 |
olfactory receptor 1356 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105
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Pam16 |
presequence translocase associated motor 16 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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RGD1561796 |
RGD1561796 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910
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Rogdi |
rogdi atypical leucine zipper |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452
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Septin12 |
septin 12 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581
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Slx4 |
SLX4 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295
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Smim22 |
small integral membrane protein 22 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,572,146...10,574,339
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Srl |
sarcalumenin |
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ISO |
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101
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Tfap4 |
transcription factor AP-4 |
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ISO |
ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:15706485 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386
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Trap1 |
TNF receptor-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981
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Ubald1 |
UBA-like domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518
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Vasn |
vasorin |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532 |
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NCBI chr10:10,917,750...10,928,259
Ensembl chr10:10,917,605...10,928,357
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Zfp174 |
zinc finger protein 174 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312
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Zfp263 |
zinc finger protein 263 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,764,424...11,774,330
Ensembl chr10:11,764,427...11,771,235
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Zfp597 |
zinc finger protein 597 |
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ISO |
ClinVar Annotator: match by term: Rubinstein-Taybi syndrome |
ClinVar |
PMID:12114483 PMID:17052327 PMID:17855048 PMID:18792986 PMID:25805166 PMID:27257017 PMID:28492532 More...
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NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675
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Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Rubinstein Taybi like syndrome |
ClinVar |
PMID:16412590 PMID:30806792 |
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NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Kmt2a |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: Rubinstein Taybi like syndrome |
ClinVar |
PMID:30806792 |
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NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Rubinstein Taybi like syndrome |
ClinVar |
PMID:30806792 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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