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G
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Fbn1
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fibrillin 1
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arachnodactyly
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CTD ClinVar |
PMID:7611299 PMID:8040326 PMID:8541880 PMID:8791520 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11143906 PMID:11700157 PMID:11826022 PMID:12203987 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16220557 PMID:16222657 PMID:16835936 PMID:16971892 PMID:17253931 PMID:17576681 PMID:17657824 PMID:17663468 PMID:17679947 PMID:18087243 PMID:18615205 PMID:19089573 PMID:19159394 PMID:19293843 PMID:19328768 PMID:19839986 PMID:21542060 PMID:21895641 PMID:21932315 PMID:22772368 PMID:22772377 PMID:24033266 PMID:24161884 PMID:24199744 PMID:25053872 PMID:25741868 PMID:26133393 PMID:28492532 PMID:29357934 PMID:31098894 PMID:37684520 More...
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
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G
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Fzd4
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frizzled class receptor 4
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ISO
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CTD Direct Evidence: marker/mechanism
|
CTD |
PMID:17103440 |
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NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372
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G
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Npr3
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natriuretic peptide receptor 3
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ISO
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ClinVar Annotator: match by term: Boudin-Mortier syndrome | ClinVar Annotator: match by term: NPR3-related condition
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OMIM ClinVar |
PMID:24559625 PMID:25741868 PMID:28492532 PMID:30032985 PMID:35233476 PMID:40171685 More...
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NCBI chr 2:62,592,557...62,660,497
Ensembl chr 2:62,597,668...62,660,066
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G
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Fbn2
|
fibrillin 2
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ISO
|
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: 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
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ClinVar CTD OMIM RGD |
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7606779 PMID:7633409 PMID:8653794 PMID:8900230 PMID:9054436 PMID:9106527 PMID:9199560 PMID:9536098 PMID:9605585 PMID:9714438 PMID:9737771 PMID:10797416 PMID:11285249 PMID:11470817 PMID:11536364 PMID:11754102 PMID:12511552 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:24035709 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:32381728 PMID:32461654 PMID:32534992 PMID:32702406 PMID:33029862 PMID:33190788 PMID:33243733 PMID:33340101 PMID:33435129 PMID:33571691 PMID:33638605 PMID:33895855 PMID:34008892 PMID:34355836 PMID:35360850 PMID:35419902 PMID:35583931 PMID:35753512 PMID:35830949 PMID:37342443 PMID:11754102 More...
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RGD:1300364 |
NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191
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G
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Piezo2
|
piezo-type mechanosensitive ion channel component 2
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|
ISO
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ClinVar Annotator: match by term: Connective tissue disorder Marden Walker type | ClinVar Annotator: match by term: Marden-Walker syndrome CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:24726473 PMID:25741868 PMID:28492532 PMID:30988732 PMID:31589614 PMID:33422128 More...
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NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215
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G
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Acap3
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ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191
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G
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Actrt2
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actin-related protein T2
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|
ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164
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G
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Agrn
|
agrin
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
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NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539
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G
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Ankrd65
|
ankyrin repeat domain 65
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431
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G
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Arhgef16
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Rho guanine nucleotide exchange factor 16
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624
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G
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Atad3a
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ATPase family, AAA domain containing 3A
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725
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G
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B3galt6
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Beta-1,3-galactosyltransferase 6
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789
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G
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C1qtnf12
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C1q and TNF related 12
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800
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G
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C5h1orf159
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similar to human chromosome 1 open reading frame 159
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
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NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373
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G
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Ccdc27
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coiled-coil domain containing 27
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888
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G
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Ccnl2
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cyclin L2
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|
ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231
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G
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Cdk11b
|
cyclin-dependent kinase 11B
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145
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G
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Cep104
|
centrosomal protein 104
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695
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G
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Cfap74
|
cilia and flagella associated protein 74
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349
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|
G
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Cptp
|
ceramide-1-phosphate transfer protein
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266
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|
G
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Dvl1
|
dishevelled segment polarity protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966
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|
G
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Faap20
|
FA core complex associated protein 20
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599
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G
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Fndc10
|
fibronectin type III domain containing 10
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399
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|
G
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Gabrd
|
gamma-aminobutyric acid type A receptor subunit delta
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094
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|
G
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Gnb1
|
G protein subunit beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488
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G
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Hes5
|
hes family bHLH transcription factor 5
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021
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G
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Ints11
|
integrator complex subunit 11
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|
ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883
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G
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Kifbp
|
kinesin family binding protein
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|
ISO
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ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome
|
ClinVar |
PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 PMID:25741868 PMID:26467025 PMID:28277559 PMID:28492532 PMID:32939943 PMID:39033378 More...
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NCBI chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201
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G
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Lrrc47
|
leucine rich repeat containing 47
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598
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G
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Megf6
|
multiple EGF-like-domains 6
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554
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G
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Mib2
|
MIB E3 ubiquitin protein ligase 2
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910
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G
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Mir200a
|
microRNA 200a
|
|
ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,930,717...171,930,805
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G
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Mir200b
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microRNA 200b
|
|
ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,931,495...171,931,589
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G
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Mir429
|
microRNA 429
|
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:171,929,682...171,929,766
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G
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Mmel1
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membrane metallo-endopeptidase-like 1
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058
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G
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Mmp23
|
matrix metallopeptidase 23
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695
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G
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Morn1
|
MORN repeat containing 1
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218
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G
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Mrpl20
|
mitochondrial ribosomal protein L20
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728
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G
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Mxra8
|
matrix remodeling associated 8
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879
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G
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Nadk
|
NAD kinase
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|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579
|
|
G
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Nek9
|
NIMA-related kinase 9
|
|
ISO
|
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome
|
ClinVar |
PMID:25741868 |
|
NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586
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G
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Pank4
|
pantothenate kinase 4
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477
|
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G
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Pex10
|
peroxisomal biogenesis factor 10
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685
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G
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Plch2
|
phospholipase C, eta 2
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152
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G
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Prdm16
|
PR/SET domain 16
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804
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G
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Prkcz
|
protein kinase C, zeta
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674
|
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G
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Prxl2b
|
peroxiredoxin like 2B
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556
|
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G
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Pusl1
|
pseudouridine synthase like 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339
|
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G
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Rer1
|
retention in endoplasmic reticulum sorting receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980
|
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G
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Rnf223
|
ring finger protein 223
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:28492532 |
|
NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458
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G
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Sdf4
|
stromal cell derived factor 4
|
|
ISO
|
ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
|
ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
|
NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884
|
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G
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Ski
|
Ski proto-oncogene
|
|
ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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OMIM CTD ClinVar |
PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 PMID:16199547 PMID:16327884 PMID:17576681 PMID:19112531 PMID:19114989 PMID:21699693 PMID:23023332 PMID:23103230 PMID:23892090 PMID:24033266 PMID:24357594 PMID:24736733 PMID:25326635 PMID:25326637 PMID:25741868 PMID:27146836 PMID:28252636 PMID:28492532 PMID:28667723 PMID:28750028 PMID:28757364 PMID:28857439 PMID:29168297 PMID:29543232 PMID:31322791 PMID:31602316 PMID:31754721 PMID:31980905 PMID:32123317 PMID:33416497 PMID:33436942 PMID:33824467 PMID:38177409 More...
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NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957
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G
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Slc35e2b
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solute carrier family 35, member E2B
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315
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G
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Smim1
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small integral membrane protein 1 (Vel blood group)
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942
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G
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Ssu72
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SSU72 homolog, RNA polymerase II CTD phosphatase
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268
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G
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Tas1r3
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taste 1 receptor member 3
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993
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G
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Tmem240
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transmembrane protein 240
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044
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G
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Tmem278
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transmembrane protein 278
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143
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G
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Tmem52
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transmembrane protein 52
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704
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G
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Tnfrsf14
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TNF receptor superfamily member 14
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046
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G
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Tnfrsf18
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TNF receptor superfamily member 18
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
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G
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Tnfrsf4
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TNF receptor superfamily member 4
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616
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G
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Tp73
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tumor protein p73
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
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G
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Tprg1l
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tumor protein p63 regulated 1-like
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983
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G
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Ttc34
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tetratricopeptide repeat domain 34
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368
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G
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Ttll10
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tubulin tyrosine ligase like 10
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:28492532 |
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NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337
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G
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Ube2j2
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ubiquitin-conjugating enzyme E2, J2
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034
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G
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Vwa1
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von Willebrand factor A domain containing 1
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880
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G
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Wrap73
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WD repeat containing, antisense to TP73
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ISO
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ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
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ClinVar |
PMID:23892090 PMID:28492532 PMID:31602316 |
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NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069
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G
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Scarf2
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scavenger receptor class F, member 2
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ISO
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ClinVar Annotator: match by term: SCARF2-related condition | ClinVar Annotator: match by term: Van den Ende-Gupta syndrome CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 PMID:28492532 PMID:33783941 PMID:35256560 More...
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NCBI chr11:96,680,237...96,691,686
Ensembl chr11:96,680,243...96,691,626
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