RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | acquired metabolic disease |
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Accession: | DOID:0060158
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browse the term
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Definition: | A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (DO) |
For additional species annotation, visit the
Alliance of Genome Resources.
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Agtrap |
angiotensin II receptor-associated protein |
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ISS |
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MouseDO |
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NCBI chr 5:158,507,427...158,519,036
Ensembl chr 5:158,508,749...158,519,036
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Cd163 |
CD163 molecule |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:31027316 |
RGD:127345132 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Hsd11b1 |
hydroxysteroid 11-beta dehydrogenase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15199296 |
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NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Ctf1 |
cardiotrophin 1 |
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ISS |
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MouseDO |
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NCBI chr 1:182,328,035...182,336,346
Ensembl chr 1:182,328,090...182,333,335
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Gucy2c |
guanylate cyclase 2C |
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ISS |
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MouseDO |
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NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
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Lep |
leptin |
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ISS |
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MouseDO |
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Neil1 |
nei-like DNA glycosylase 1 |
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ISS |
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MouseDO |
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NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
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Ppara |
peroxisome proliferator activated receptor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15309680 |
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NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Pparg |
peroxisome proliferator-activated receptor gamma |
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ISS |
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MouseDO |
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NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a |
PPARG coactivator 1 alpha |
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IEP |
mRNA:increased expression:gastrocnemius muscle (rat) |
RGD |
PMID:23320128 |
RGD:7241841 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Prkci |
protein kinase C, iota |
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ISS |
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MouseDO |
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NCBI chr 2:112,321,919...112,382,305
Ensembl chr 2:112,321,929...112,382,352
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Sirt3 |
sirtuin 3 |
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ISS |
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MouseDO |
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NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Slc2a9 |
solute carrier family 2 member 9 |
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ISS |
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MouseDO |
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NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
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Atp2a2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
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IDA |
protein:increased oxidation:cardiac muscle cell |
RGD |
PMID:23997093 |
RGD:13782087 |
NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr13:22,689,783...22,853,920
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Fadd |
Fas associated via death domain |
treatment |
IEP |
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RGD |
PMID:27131981 |
RGD:13792503 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fas |
Fas cell surface death receptor |
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IEP |
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RGD |
PMID:30172001 |
RGD:13792561 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Lep |
leptin |
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ISS |
OMIM:605552 |
MouseDO |
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lpl |
lipoprotein lipase |
treatment |
IDA |
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RGD |
PMID:26996629 |
RGD:13794382 |
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Mttp |
microsomal triglyceride transfer protein |
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ISO |
ClinVar Annotator: match by term: Metabolic syndrome, protection against |
OMIM ClinVar |
PMID:16721486 PMID:28492532 |
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NCBI chr 2:226,613,090...226,654,239
Ensembl chr 2:226,613,090...226,654,239
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Tlr2 |
toll-like receptor 2 |
susceptibility |
ISO |
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RGD |
PMID:19841034 |
RGD:15090861 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tp53inp1 |
tumor protein p53 inducible nuclear protein 1 |
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ISS |
OMIM:605552 |
MouseDO |
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NCBI chr 5:24,253,986...24,272,250
Ensembl chr 5:24,260,568...24,267,968
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Ahdc1 |
AT hook, DNA binding motif, containing 1 |
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ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 |
ClinVar |
PMID:25741868 PMID:29696776 PMID:33644933 |
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NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
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Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
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ISO |
ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 3 |
OMIM ClinVar |
PMID:24827035 PMID:25741868 |
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NCBI chr 1:83,479,139...83,497,011
Ensembl chr 1:83,479,147...83,487,169
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Cela2a |
chymotrypsin like elastase 2A |
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ISO |
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OMIM |
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NCBI chr 5:154,126,879...154,136,630
Ensembl chr 5:154,126,878...154,136,632
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ankub1 |
ankyrin repeat and ubiquitin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:141,857,623...141,894,624
Ensembl chr 2:141,856,573...141,894,339
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Clrn1 |
clarin 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
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Commd2 |
COMM domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:141,848,661...141,852,907
Ensembl chr 2:141,848,680...141,852,888
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Cp |
ceruloplasmin |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Hypoceruloplasminemia CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1458725 PMID:2016084 PMID:3574673 PMID:5675426 PMID:5912351 PMID:7539672 PMID:7708681 PMID:7820540 PMID:8641692 PMID:8789443 PMID:9536098 PMID:11756598 PMID:11909923 PMID:12351628 PMID:12572680 PMID:15082597 PMID:15654567 PMID:15885371 PMID:16199547 PMID:16629161 PMID:16775387 PMID:16831606 PMID:17576681 PMID:17710675 PMID:18414213 PMID:19095659 PMID:20301666 PMID:20430895 PMID:20655381 PMID:20801540 PMID:22243965 PMID:22281056 PMID:24033266 PMID:25741868 PMID:25864092 PMID:26777753 PMID:27753142 PMID:28012953 PMID:28258281 PMID:28431603 PMID:28492532 PMID:29482220 PMID:32235485 More...
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Cpa3 |
carboxypeptidase A3 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:102,712,483...102,744,219
Ensembl chr 2:102,712,589...102,744,203
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Cpb1 |
carboxypeptidase B1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:102,755,241...102,785,628
Ensembl chr 2:102,755,241...102,785,628
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Eif2a |
eukaryotic translation initiation factor 2A |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068
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Erich6 |
glutamate-rich 6 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:142,851,905...142,878,010
Ensembl chr 2:142,851,905...142,884,320
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Gpr171 |
G protein-coupled receptor 171 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,360,187...143,366,665
Ensembl chr 2:143,359,564...143,366,698
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Gpr87 |
G protein-coupled receptor 87 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,439,741...143,440,901
Ensembl chr 2:143,439,735...143,458,190
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Gyg1 |
glycogenin 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
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Hltf |
helicase-like transcription factor |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:102,549,724...102,609,492
Ensembl chr 2:102,549,724...102,609,327
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Hps3 |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:18414213 PMID:24033266 PMID:28492532 |
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NCBI chr 2:102,484,574...102,527,580
Ensembl chr 2:102,484,574...102,526,047
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Igsf10 |
immunoglobulin superfamily, member 10 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773
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Med12l |
mediator complex subunit 12L |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
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Mindy4b |
MINDY family member 4B |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,026,685...143,061,966
Ensembl chr 2:143,027,285...143,058,144
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P2ry12 |
purinergic receptor P2Y12 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
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P2ry13 |
purinergic receptor P2Y13 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,470,437...143,476,360
Ensembl chr 2:143,470,425...143,473,434
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P2ry14 |
purinergic receptor P2Y14 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:143,372,697...143,413,213
Ensembl chr 2:143,372,697...143,413,141
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Pfn2 |
profilin 2 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:142,067,102...142,072,938
Ensembl chr 2:142,067,104...142,072,938
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Rnf13 |
ring finger protein 13 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:141,927,887...142,061,801
Ensembl chr 2:141,927,909...142,061,801
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Selenot |
selenoprotein T |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:142,804,387...142,821,438
Ensembl chr 2:142,804,405...142,821,427
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Serp1 |
stress-associated endoplasmic reticulum protein 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:142,757,254...142,761,243
Ensembl chr 2:142,757,270...142,761,116
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Siah2 |
siah E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:142,913,924...142,931,752
Ensembl chr 2:142,914,003...142,931,950
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Slc40a1 |
solute carrier family 40 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20655381 |
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NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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Tm4sf1 |
transmembrane 4 L six family member 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:141,456,950...141,466,146
Ensembl chr 2:141,453,310...141,466,146
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Tm4sf4 |
transmembrane 4 L six family member 4 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:141,570,321...141,621,263
Ensembl chr 2:141,481,902...141,621,200
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Tsc22d2 |
TSC22 domain family, member 2 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:142,646,778...142,697,977
Ensembl chr 2:142,644,744...142,693,606
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Wwtr1 |
WW domain containing transcription regulator 1 |
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ISO |
ClinVar Annotator: match by term: Deficiency of ferroxidase |
ClinVar |
PMID:16629161 PMID:28492532 |
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NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
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Slc39a4 |
solute carrier family 39 member 4 |
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ISO |
DNA:deletions, snp, missense mutations:multiple (human) ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 PMID:12955721 PMID:14709598 PMID:15358787 PMID:16199547 PMID:17483098 PMID:19370757 PMID:20981092 PMID:24033266 PMID:25741868 PMID:28492532 PMID:12068297 More...
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RGD:1599005 |
NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
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Adar |
adenosine deaminase, RNA-specific |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome DNA:mutations:exons: |
CTD ClinVar RGD |
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28139822 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29221912 PMID:29603717 PMID:31772029 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 PMID:23001123 More...
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RGD:11069491 |
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
ClinVar |
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26938784 PMID:28492532 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24686847 |
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NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Rnaseh2a |
ribonuclease H2, subunit A |
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ISS ISO |
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
MouseDO ClinVar |
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:25274781 PMID:25604658 PMID:25741868 PMID:27943079 PMID:28492532 PMID:31130681 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
CTD ClinVar |
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:23165795 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:31130284 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:33258288 More...
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Rnaseh2c |
ribonuclease H2, subunit C |
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ISS ISO |
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846 ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
MouseDO ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:23364794 PMID:24033266 PMID:24183309 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001 More...
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi Goutieres syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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Trex1 |
three prime repair exonuclease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME |
CTD ClinVar |
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26938784 PMID:28492532 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Usp18 |
ubiquitin specific peptidase 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Amigo3 |
adhesion molecule with Ig like domain 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
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Amt |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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Apeh |
acylaminoacyl-peptide hydrolase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
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Arih2 |
ariadne RBR E3 ubiquitin protein ligase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
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Arih2os |
ARIH2 opposite strand lncRNA |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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Atrip |
ATR interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 More...
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NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
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Bsn |
bassoon (presynaptic cytomatrix protein) |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
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Camkv |
CaM kinase-like vesicle-associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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Ccdc71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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Cdhr4 |
cadherin-related family member 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
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Celsr3 |
cadherin, EGF LAG seven-pass G-type receptor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
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Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Dalrd3 |
DALR anticodon binding domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
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Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Gnat1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
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Gpx1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Hyal1 |
hyaluronidase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
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Hyal3 |
hyaluronidase 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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Ifrd2 |
interferon-related developmental regulator 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
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Iho1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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Impdh2 |
inosine monophosphate dehydrogenase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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Inka1 |
inka box actin regulator 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
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Ip6k1 |
inositol hexakisphosphate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,693,068...108,737,278
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Ip6k2 |
inositol hexakisphosphate kinase 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
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Klhdc8b |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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LOC498675 |
hypothetical LOC498675 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
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LOC680045 |
hypothetical protein LOC680045 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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Lsmem2 |
leucine-rich single-pass membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
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Mir191 |
microRNA 191 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,264,098...109,264,188
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Mon1a |
MON1 homolog A, secretory trafficking associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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G |
Mst1 |
macrophage stimulating 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
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Mst1r |
macrophage stimulating 1 receptor |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,596,100...108,611,389
Ensembl chr 8:108,597,299...108,612,455
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Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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Nckipsd |
NCK interacting protein with SH3 domain |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,511,484...109,522,625
Ensembl chr 8:109,511,658...109,522,246
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Ndufaf3 |
NADH:ubiquinone oxidoreductase complex assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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P4htm |
prolyl 4-hydroxylase, transmembrane |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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G |
Pfkfb4 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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Prkar2a |
protein kinase cAMP-dependent type II regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
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G |
Qars1 |
glutaminyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
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Qrich1 |
glutamine-rich 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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G |
Rbm5 |
RNA binding motif protein 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
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G |
Rbm6 |
RNA binding motif protein 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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G |
Rhoa |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Rnf123 |
ring finger protein 123 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
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G |
Sema3b |
semaphorin 3B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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G |
Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
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G |
Shisa5 |
shisa family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,691,476...109,706,409
Ensembl chr 8:109,691,522...109,706,408
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G |
Slc25a20 |
solute carrier family 25 member 20 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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G |
Slc26a6 |
solute carrier family 26 member 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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G |
Slc38a3 |
solute carrier family 38, member 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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G |
Tcta |
T-cell leukemia translocation altered |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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G |
Tmem89 |
transmembrane protein 89 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
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G |
Traip |
TRAF-interacting protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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G |
Trex1 |
three prime repair exonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
OMIM ClinVar |
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22367235 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23918923 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:27604306 PMID:28089741 PMID:28492532 PMID:28750028 PMID:28919362 PMID:29239743 PMID:29387804 PMID:29453956 PMID:30219631 PMID:31130681 PMID:31589614 PMID:31719132 PMID:31980526 PMID:32860008 PMID:33504652 PMID:34426522 PMID:35307828 More...
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NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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Uba7 |
ubiquitin-like modifier activating enzyme 7 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:108,665,289...108,674,099
Ensembl chr 8:108,665,292...108,674,099
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Ucn2 |
urocortin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
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Uqcrc1 |
ubiquinol-cytochrome c reductase core protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
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Usp19 |
ubiquitin specific peptidase 19 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741
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Usp4 |
ubiquitin specific peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
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Wdr6 |
WD repeat domain 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 |
ClinVar |
PMID:16845398 PMID:28492532 |
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NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
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Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:23165795 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:31130284 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32404165 PMID:32488064 PMID:33084218 PMID:33258288 More...
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Serpine3 |
serpin family E member 3 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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Wdfy2 |
WD repeat and FYVE domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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Kat5 |
lysine acetyltransferase 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
ClinVar |
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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Rnaseh2c |
ribonuclease H2, subunit C |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 PMID:19034401 PMID:20131292 PMID:23322642 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29150899 PMID:29239743 PMID:29389947 PMID:30315573 PMID:31529068 PMID:32404165 PMID:34008892 More...
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NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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Best2 |
bestrophin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
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Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Calr |
calreticulin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Dand5 |
DAN domain BMP antagonist family member 5 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
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Dhps |
deoxyhypusine synthase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
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Dnase2 |
deoxyribonuclease 2, lysosomal |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
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Farsa |
phenylalanyl-tRNA synthetase subunit alpha |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
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Fbxw9 |
F-box and WD repeat domain containing 9 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
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Gadd45gip1 |
GADD45G interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
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Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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Get3 |
guided entry of tail-anchored proteins factor 3, ATPase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
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Hook2 |
hook microtubule-tethering protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
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Ier2 |
immediate early response 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
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Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Klf1 |
Kruppel like factor 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Man2b1 |
mannosidase, alpha, class 2B, member 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
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MAST1 |
microtubule associated serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
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Nacc1 |
nucleus accumbens associated 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
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Nfix |
nuclear factor I X |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
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Prdx2 |
peroxiredoxin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Rad23a |
RAD23 homolog A, nucleotide excision repair protein |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
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Rnaseh2a |
ribonuclease H2, subunit A |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
OMIM ClinVar |
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20097664 PMID:20131292 PMID:21183743 PMID:21454563 PMID:23592335 PMID:23831250 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25274781 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:26814174 PMID:27943079 PMID:28007337 PMID:28492532 PMID:29239743 PMID:31130681 PMID:31139143 PMID:31529068 More...
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NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
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Rtbdn |
retbindin |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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Syce2 |
synaptonemal complex central element protein 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
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Tnpo2 |
transportin 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
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Trir |
telomerase RNA component interacting RNase |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
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Trmt1 |
tRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
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Wdr83 |
WD repeat domain 83 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
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Wdr83os |
WD repeat domain 83 opposite strand |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 |
ClinVar |
PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 More...
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NCBI chr19:23,075,372...23,076,934
Ensembl chr19:23,075,376...23,076,894
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:26273690 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28454995 PMID:28492532 PMID:29239743 PMID:30275001 PMID:30487145 PMID:32371413 PMID:33683010 More...
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Tldc2 |
TBC/LysM-associated domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
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G |
Adar |
adenosine deaminase, RNA-specific |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 |
OMIM ClinVar |
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 PMID:17576681 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26372505 PMID:26629815 PMID:26802932 PMID:27937139 PMID:28139822 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29185800 PMID:29221912 PMID:29603717 PMID:29691679 PMID:29775506 PMID:29915444 PMID:31772029 PMID:32996714 PMID:33289110 PMID:33307271 PMID:33723056 PMID:34343497 More...
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NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Ifih1 |
interferon induced with helicase C domain 1 |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 |
OMIM ClinVar |
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:28166811 PMID:28319323 PMID:28492532 PMID:28605144 PMID:29782060 PMID:30219631 PMID:30593198 PMID:30965144 PMID:31898846 PMID:34185153 More...
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NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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G |
Lsm11 |
LSM11, U7 small nuclear RNA associated |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 |
OMIM ClinVar |
PMID:33230297 |
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NCBI chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944
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Grcc10 |
gene rich cluster, C10 gene |
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ISO |
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 |
ClinVar |
PMID:7667090 PMID:16547514 PMID:33230297 |
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NCBI chr 4:157,551,276...157,552,924
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Gnas |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A DNA:deletions:exon:multiple DNA:splice-site mutation |
OMIM ClinVar RGD |
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:8072545 PMID:8702665 PMID:9159128 PMID:9727013 PMID:9876352 PMID:11093740 PMID:11412411 PMID:11450852 PMID:11784876 PMID:12024004 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:18553568 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23796510 PMID:23843956 PMID:24033266 PMID:24855271 PMID:24982418 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:28492532 PMID:28708303 PMID:29072892 PMID:30702195 PMID:34614324 PMID:11095461 PMID:11600516 More...
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RGD:11568049, RGD:11568047 |
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Pthlh |
parathyroid hormone-like hormone |
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ISS |
OMIM:103580 |
MouseDO |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Fam20a |
FAM20A, golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
OMIM ClinVar |
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G |
ClinVar |
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 PMID:28492532 More...
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Ager |
advanced glycosylation end product-specific receptor |
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IEP |
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat) |
RGD |
PMID:23497312 |
RGD:7244260 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
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IDA |
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RGD |
PMID:23291307 |
RGD:8549476 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Atp5f1d |
ATP synthase F1 subunit delta |
treatment |
IEP |
associated with Hypercholesterolemia |
RGD |
PMID:26047104 |
RGD:11057945 |
NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
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RGD |
PMID:15625282 |
RGD:13204716 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Sod1 |
superoxide dismutase 1 |
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IEP |
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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IEP |
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta |
RGD |
PMID:25430697 |
RGD:11038653 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Vkorc1 |
vitamin K epoxide reductase complex, subunit 1 |
susceptibility |
IAGP |
DNA:missense mutation: :p.Y139C (416A>G) (rat) |
RGD |
PMID:19884975 |
RGD:2315841 |
NCBI chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25758222 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
DNA:missense mutations:cds:p.G342V, p.Y371F (human) ClinVar Annotator: match by term: Idiopathic infantile arterial calcification CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.V246D (mouse) DNA:mutations:multiple (human) DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human) |
ClinVar CTD RGD |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16609882 PMID:16968801 PMID:24033266 PMID:25741868 PMID:28492532 PMID:15940697 PMID:23798568 PMID:20016754 PMID:12881724 More...
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RGD:1601044, RGD:13204734, RGD:6906932, RGD:731203 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Il6 |
interleukin 6 |
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IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:9566989 |
RGD:1643102 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Amelx |
amelogenin, X-linked |
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IEP |
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RGD |
PMID:15721149 |
RGD:1599092 |
NCBI chr X:25,076,362...25,087,660
Ensembl chr X:25,076,362...25,087,660
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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IEP |
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RGD |
PMID:2106357 |
RGD:6483581 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Casr |
calcium-sensing receptor |
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ISO |
DNA:missense mutation:cds:p.E128A (human) ClinVar Annotator: match by term: Autosomal dominant hypocalcemia DNA:missense mutation:cds:p.T151M (human) DNA:missense mutation:cds:p.L723Q (mouse) DNA:missense mutations:cds:multiple (human) |
ClinVar RGD |
PMID:11136551 PMID:11701698 PMID:12067826 PMID:12574188 PMID:12733714 PMID:14519094 PMID:17039419 PMID:19179454 PMID:20119591 PMID:20668040 PMID:21645025 PMID:22422767 PMID:22789683 PMID:24133354 PMID:24297799 PMID:24823460 PMID:25137426 PMID:25420019 PMID:25741868 PMID:26467025 PMID:28492532 PMID:7874174 PMID:20501971 PMID:15347804 PMID:8813042 More...
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RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
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ISO |
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RGD |
PMID:11416220 |
RGD:734871 |
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Pth |
parathyroid hormone |
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IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:22581996 |
RGD:7242904 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL |
OMIM ClinVar |
PMID:1706284 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9253358 PMID:9422777 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10912749 PMID:10912782 PMID:11102444 PMID:11134112 PMID:11136551 PMID:11152759 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12050233 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14997007 PMID:15531522 PMID:15598778 PMID:15864123 PMID:15879434 PMID:16497624 PMID:16608894 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18756473 PMID:19179454 PMID:19389809 PMID:19694204 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23372019 PMID:24033266 PMID:24133354 PMID:24297799 PMID:24823460 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25420019 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26166472 PMID:26323216 PMID:26467025 PMID:26646938 PMID:27157104 PMID:27957351 PMID:28492532 PMID:29846619 PMID:34008892 More...
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2 |
OMIM ClinVar |
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:28492532 |
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NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
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G |
Casr |
calcium-sensing receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome |
CTD ClinVar |
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868 More...
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Fgf23 |
fibroblast growth factor 23 |
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ISO |
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant DNA:missense mutation:cds:526C>T,p.R176W (human) |
ClinVar OMIM RGD |
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:31486862 PMID:32415663 PMID:11062477 PMID:19655082 More...
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RGD:1598933, RGD:10044239 |
NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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G |
Phex |
phosphate regulating endopeptidase homolog, X-linked |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets |
ClinVar |
PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 More...
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NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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G |
Umod |
uromodulin |
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ISO |
ClinVar Annotator: match by term: Juvenile gout | ClinVar Annotator: match by term: MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: Nephropathy, familial, with gout | ClinVar Annotator: match by term: Uromodulin-associated kidney disease |
ClinVar OMIM RGD |
PMID:7396593 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:16135773 PMID:16883323 PMID:17245395 PMID:19465746 PMID:20172860 PMID:20472742 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24670410 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28166811 PMID:28492532 PMID:28781372 PMID:29204651 PMID:29212948 PMID:30376835 PMID:30773290 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:12471200 More...
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RGD:737832 |
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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Muc1 |
mucin 1, cell surface associated |
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ISO |
DNA:mutation:: ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:15384011 PMID:23396133 PMID:25741868 PMID:33532864 PMID:23396133 |
RGD:7244289 |
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Ren |
renin |
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ISO |
ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 |
OMIM ClinVar |
PMID:16116425 PMID:19664745 PMID:25741868 PMID:28492532 PMID:32750457 PMID:33532864 More...
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NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 |
ClinVar |
PMID:25741868 PMID:27291889 PMID:28492532 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Sec61a1 |
SEC61 translocon subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 |
ClinVar OMIM |
PMID:27392076 |
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NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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ISO ISS |
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312 |
ClinVar MouseDO |
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NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISS ISO |
OMIM:241520 | OMIM:613312 ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive |
MouseDO ClinVar |
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Slc20a2 |
solute carrier family 20 member 2 |
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ISS |
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 |
MouseDO |
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NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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G |
Baat |
bile acid CoA:amino acid N-acyltransferase |
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ISO |
ClinVar Annotator: match by term: Bile acid conjugation defect 1 |
OMIM ClinVar |
PMID:12704386 PMID:23415802 PMID:25741868 |
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NCBI chr 5:63,851,668...63,860,641
Ensembl chr 5:63,850,705...63,860,685
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G |
Phf6 |
PHD finger protein 6 |
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ISO |
ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS |
OMIM ClinVar |
PMID:12415272 PMID:13871358 PMID:15241480 PMID:15466013 PMID:15994862 PMID:18414213 PMID:23906836 PMID:24728327 PMID:25741868 PMID:25741869 PMID:27633282 PMID:28492532 More...
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NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23308213 |
|
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Cd40lg |
CD40 ligand |
treatment |
IDA |
|
RGD |
PMID:24374105 |
RGD:11352276 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
severity |
ISO |
|
RGD |
PMID:15120829 |
RGD:12910476 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16025100 |
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO |
protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells |
RGD |
PMID:25722432 PMID:25722432 |
RGD:13207434, RGD:13207434 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Pth |
parathyroid hormone |
disease_progression |
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:22634235 |
RGD:7242900 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Slc20a1 |
solute carrier family 20 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23308213 |
|
NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Ahsg |
alpha-2-HS-glycoprotein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16177000 |
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NCBI chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999
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G |
Alpl |
alkaline phosphatase, biomineralization associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21193197 |
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NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
associated with hypertension;protein:undercarboxylated:serum CTD Direct Evidence: marker/mechanism protein:increased expression:dermis: |
CTD RGD |
PMID:21335463 PMID:20197689 PMID:18422975 |
RGD:6483566, RGD:9068449 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Bmp2 |
bone morphogenetic protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30963258 PMID:31843813 |
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NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
C6 |
complement C6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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G |
Casp3 |
caspase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21193197 PMID:21335463 |
|
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl6 |
C-C motif chemokine ligand 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr10:68,381,179...68,385,811
Ensembl chr10:68,380,188...68,384,001
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22267198 |
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Dmd |
dystrophin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18340010 |
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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G |
Epo |
erythropoietin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12148126 |
|
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
associated with Breast Neoplasms;protein:increased expression:breast |
RGD |
PMID:18256879 |
RGD:2289923 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Fcgr1a |
Fc gamma receptor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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G |
Fgf23 |
fibroblast growth factor 23 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
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NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
|
NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Gpx1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human) |
RGD |
PMID:17825092 |
RGD:2306608 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Il18 |
interleukin 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Itgb1 |
integrin subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18340010 |
|
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Jak2 |
Janus kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Kl |
Klotho |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17710231 |
|
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Lsp1 |
lymphocyte-specific protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 1:197,614,585...197,648,414
Ensembl chr 1:197,614,687...197,648,416
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|
G |
Ly86 |
lymphocyte antigen 86 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr17:27,415,807...27,499,695
Ensembl chr17:27,415,830...27,487,260
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G |
Mgp |
matrix Gla protein |
|
ISO |
|
RGD |
PMID:15045141 |
RGD:1582501 |
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15545515 PMID:21193197 |
|
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15545515 PMID:21193197 |
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NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22110751 |
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nr1i2 |
nuclear receptor subfamily 1, group I, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30963258 |
|
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
|
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
|
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6143199 |
|
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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G |
Pycard |
PYD and CARD domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
|
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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G |
Slc20a2 |
solute carrier family 20 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
|
NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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G |
Slc22a6 |
solute carrier family 22 member 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12803500 |
|
NCBI chr 1:205,522,579...205,531,179
Ensembl chr 1:205,522,729...205,531,173
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G |
Snai2 |
snail family transcriptional repressor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
|
NCBI chr11:86,183,800...86,186,109
Ensembl chr11:86,181,909...86,186,200
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G |
Sparc |
secreted protein acidic and cysteine rich |
|
ISO |
protein:increased expression:dermis: |
RGD |
PMID:18422975 |
RGD:9068449 |
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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G |
Spn |
sialophorin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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G |
Spp1 |
secreted phosphoprotein 1 |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:dermis: |
CTD RGD |
PMID:21193197 PMID:21335463 PMID:18390899 PMID:18422975 |
RGD:6903869, RGD:9068449 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24142982 |
|
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21335463 |
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NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24142982 |
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NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30963258 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29358327 |
|
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Xpr1 |
xenotropic and polytropic retrovirus receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938945 |
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NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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G |
F3 |
coagulation factor III, tissue factor |
|
IEP |
|
RGD |
PMID:9916935 |
RGD:11341701 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
Pdgfd |
platelet derived growth factor D |
|
ISO |
|
RGD |
PMID:19213942 |
RGD:9854642 |
NCBI chr 8:3,488,448...3,722,395
Ensembl chr 8:3,488,423...3,722,395
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G |
Bco1 |
beta-carotene oxygenase 1 |
|
ISS |
OMIM:115300 |
MouseDO |
|
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NCBI chr19:45,149,250...45,186,102
Ensembl chr19:45,149,265...45,186,101
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G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
OMIM ClinVar |
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 |
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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G |
Slc12a9 |
solute carrier family 12, member 9 |
|
ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
|
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G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:16199547 PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:25843205 PMID:28492532 PMID:29111009 PMID:29228254 PMID:29481669 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Pfas |
phosphoribosylformylglycinamidine synthase |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:25741868 PMID:28492532 PMID:29111009 |
|
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
|
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
IEP IDA |
mRNA:increased expression:liver: DNA:hypermethylation:liver: |
RGD |
PMID:17724018 PMID:17724018 |
RGD:9588267, RGD:9588267 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dnmt3l |
DNA methyltransferase 3 like |
|
IEP |
mRNA:increased expression:liver: |
RGD |
PMID:17724018 |
RGD:9588267 |
NCBI chr20:10,614,933...10,629,516
Ensembl chr20:10,614,934...10,629,516
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G |
Mbd2 |
methyl-CpG binding domain protein 2 |
|
IEP IDA |
mRNA:increased expression:liver: DNA:hypermethylation:liver: |
RGD |
PMID:17724018 PMID:17724018 |
RGD:9588267, RGD:9588267 |
NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794
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G |
Aff4 |
AF4/FMR2 family, member 4 |
|
ISO |
ClinVar Annotator: match by term: COGNITIVE IMPAIRMENT, COARSE FACIES, HEART DEFECTS, OBESITY, PULMONARY INVOLVEMENT, SHORT STATURE, AND SKELETAL DYSPLASIA | ClinVar Annotator: match by term: Chops syndrome |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25730767 PMID:25741868 PMID:28166811 PMID:28492532 PMID:34782754 More...
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NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
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G |
Ager |
advanced glycosylation end product-specific receptor |
treatment |
IEP |
|
RGD |
PMID:22217518 PMID:23769041 |
RGD:7245568, RGD:8695995 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
C3 |
complement C3 |
treatment |
IDA |
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RGD |
PMID:25122638 |
RGD:11040803 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cd40 |
CD40 molecule |
treatment |
IDA |
|
RGD |
PMID:22826618 |
RGD:11352297 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
treatment |
IDA |
liver |
RGD |
PMID:22826618 |
RGD:11352297 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
F7 |
coagulation factor VII |
treatment |
ISO |
human protein in a rat model |
RGD |
PMID:12095034 |
RGD:11049508 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Hmgb1 |
high mobility group box 1 |
treatment |
IEP |
|
RGD |
PMID:22217518 |
RGD:7245568 |
NCBI chr12:5,973,062...5,978,565
Ensembl chr12:5,901,586...5,978,565
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G |
Mtor |
mechanistic target of rapamycin kinase |
treatment |
IDA |
|
RGD |
PMID:23985719 |
RGD:10041002 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Tnf |
tumor necrosis factor |
treatment |
IMP |
|
RGD |
PMID:24598936 |
RGD:10450586 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Aco1 |
aconitase 1 |
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IEP |
|
RGD |
PMID:20176611 |
RGD:11541086 |
NCBI chr 5:55,259,841...55,315,872
Ensembl chr 5:55,259,827...55,316,391
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G |
Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:24370342 |
RGD:11035281 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
|
RGD |
PMID:17298994 |
RGD:7241819 |
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccn2 |
cellular communication network factor 2 |
disease_progression |
IEP |
mRNA, protein:increased expression:kidney (rat) |
RGD |
PMID:19921985 |
RGD:150517553 |
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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G |
Clu |
clusterin |
treatment |
IEP |
|
RGD |
PMID:22494435 |
RGD:9068431 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
|
RGD |
PMID:22845765 |
RGD:7241226 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
treatment |
IDA |
|
RGD |
PMID:18209025 |
RGD:9685339 |
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Pdgfa |
platelet derived growth factor subunit A |
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IEP |
|
RGD |
PMID:11889420 |
RGD:11080974 |
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
IEP |
mRNA:increased expression:kidney: |
RGD |
PMID:15785371 PMID:11889420 |
RGD:10449491, RGD:11080974 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
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IEP |
|
RGD |
PMID:11889420 |
RGD:11080974 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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IEP |
|
RGD |
PMID:11889420 |
RGD:11080974 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
protein:increased secretion:T lymphocyte (human) |
RGD |
PMID:16387096 |
RGD:7241259 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
protein:increased expression:kidney: |
RGD |
PMID:16221712 |
RGD:13208600 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Serpine1 |
serpin family E member 1 |
treatment |
ISO |
protein:increased expression:kidney: |
RGD |
PMID:16221712 PMID:18192922 |
RGD:13208600, RGD:13208601 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Epas1 |
endothelial PAS domain protein 1 |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:22305384 |
RGD:10395369 |
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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G |
Trip12 |
thyroid hormone receptor interactor 12 |
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ISO |
ClinVar Annotator: match by term: Clark-Baraitser syndrome |
OMIM ClinVar |
PMID:3812552 PMID:25363768 PMID:25741868 PMID:27848077 PMID:28251352 PMID:28660352 PMID:31814248 More...
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NCBI chr 9:85,916,691...86,043,312
Ensembl chr 9:85,916,691...86,051,403
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G |
Ankrd46 |
ankyrin repeat domain 46 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,647,202...67,668,180
Ensembl chr 7:67,647,204...67,668,132
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G |
Atp6v1c1 |
ATPase H+ transporting V1 subunit C1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
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G |
Azin1 |
antizyme inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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G |
Baalc |
BAALC binder of MAP3K1 and KLF4 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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G |
Cox6c |
cytochrome c oxidase subunit 6C |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
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G |
Cthrc1 |
collagen triple helix repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,122,474...70,132,756
Ensembl chr 7:70,122,474...70,132,756
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G |
Dcaf13 |
DDB1 and CUL4 associated factor 13 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,160,983...70,196,142
Ensembl chr 7:70,160,941...70,196,142
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G |
Dcstamp |
dendrocyte expressed seven transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,807,455...70,822,067
Ensembl chr 7:70,807,581...70,822,078
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G |
Dpys |
dihydropyrimidinase |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
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G |
Fbxo43 |
F-box protein 43 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,333,161...67,346,751
Ensembl chr 7:67,333,162...67,346,751
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G |
Fzd6 |
frizzled class receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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G |
Grhl2 |
grainyhead-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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G |
Kcns2 |
potassium voltage-gated channel, modifier subfamily S, member 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,022,352...66,028,422
Ensembl chr 7:66,022,352...66,028,422
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G |
Klf10 |
Kruppel-like factor 10 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,467,658...69,473,726
Ensembl chr 7:69,465,619...69,473,994
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G |
Lrp12 |
LDL receptor related protein 12 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,941,068...71,012,409
Ensembl chr 7:70,941,068...71,012,441
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G |
Mir875 |
microRNA 875 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:15141358 PMID:16648375 PMID:28492532 |
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NCBI chr 7:66,861,955...66,862,027
Ensembl chr 7:66,861,955...66,862,027
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G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G |
Ncald |
neurocalcin delta |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:68,532,671...68,964,740
Ensembl chr 7:68,534,421...68,964,496
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G |
Nipal2 |
NIPA-like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,774,477...65,884,807
Ensembl chr 7:65,774,477...65,884,807
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G |
Odf1 |
outer dense fiber of sperm tails 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,377,427...69,389,662
Ensembl chr 7:69,380,116...69,389,664
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G |
Osr2 |
odd-skipped related transciption factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,487,841...66,495,003
Ensembl chr 7:66,487,839...66,495,224
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G |
Pabpc1 |
poly(A) binding protein, cytoplasmic 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
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G |
Polr2k |
RNA polymerase II, I and III subunit K |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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G |
Pop1 |
POP1 homolog, ribonuclease P/MRP subunit |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141
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G |
Rgs22 |
regulator of G-protein signaling 22 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,188,531...67,308,805
Ensembl chr 7:67,188,519...67,308,875
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G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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G |
Rnf19a |
ring finger protein 19A, RBR E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,425,833...67,465,214
Ensembl chr 7:67,425,837...67,465,222
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Slc25a32 |
solute carrier family 25 member 32 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:70,142,958...70,160,726
Ensembl chr 7:70,142,964...70,160,770
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G |
Snx31 |
sorting nexin 31 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,676,514...67,776,925
Ensembl chr 7:67,676,524...67,732,086
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G |
Spag1 |
sperm associated antigen 1 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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G |
Stk3 |
serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:66,053,209...66,323,292
Ensembl chr 7:66,052,345...66,323,233
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G |
Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:69,116,758...69,224,490
Ensembl chr 7:69,116,761...69,224,903
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: Pepper syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:16199547 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:19763152 PMID:20307669 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22406018 PMID:22527104 PMID:22700954 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334746 PMID:24334764 PMID:25060287 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25640679 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28631888 PMID:28832562 PMID:29149870 PMID:29431110 PMID:29453417 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30602132 PMID:30843084 PMID:31580008 PMID:31736247 PMID:31943017 PMID:31965297 PMID:32384097 PMID:32505691 PMID:32581362 PMID:32860008 PMID:32919079 PMID:33023636 PMID:33025479 More...
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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G |
Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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G |
Zfp706 |
zinc finger protein 706 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:68,167,499...68,174,042
Ensembl chr 7:68,166,323...68,174,148
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G |
Zfpm2 |
zinc finger protein, multitype 2 |
|
ISO |
ClinVar Annotator: match by term: Cohen syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Cole disease | ClinVar Annotator: match by term: GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION |
OMIM ClinVar |
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16609882 PMID:16968801 PMID:19380683 PMID:24033266 PMID:24075184 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Mrps16 |
mitochondrial ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 |
OMIM ClinVar |
PMID:15505824 |
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NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
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G |
Avil |
advillin |
|
ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
OMIM ClinVar |
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Pc |
pyruvate carboxylase |
|
ISO |
ClinVar Annotator: match by term: Congenital lactic acidosis |
ClinVar |
PMID:32581362 |
|
NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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G |
Pet100 |
PET100 cytochrome c oxidase chaperone |
|
ISO |
ClinVar Annotator: match by term: Congenital lactic acidosis |
ClinVar |
PMID:25293719 PMID:25741868 |
|
NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
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G |
Ppp1r12b |
protein phosphatase 1, regulatory subunit 12B |
|
ISO |
ClinVar Annotator: match by term: Congenital lactic acidosis |
ClinVar |
|
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NCBI chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108
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G |
Dld |
dihydrolipoamide dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 |
OMIM ClinVar |
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:27144126 PMID:27290639 PMID:27544700 PMID:27896107 PMID:28492532 More...
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NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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G |
Cblif |
cobalamin binding intrinsic factor |
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ISO |
ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency DNA:mutations:cds:c.68A>G,67C>G, deletion,p.Q5R,p.Q5G(human) |
OMIM ClinVar RGD |
PMID:14576042 PMID:14695536 PMID:15738392 PMID:19036097 PMID:20408840 PMID:22854512 PMID:22929189 PMID:24033266 PMID:25308559 PMID:25741868 PMID:27577878 PMID:28492532 PMID:14695536 More...
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RGD:11049582 |
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
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G |
Lep |
leptin |
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ISO |
ClinVar Annotator: match by term: Leptin dysfunction | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency |
OMIM ClinVar |
PMID:9202122 PMID:9500540 PMID:9745435 PMID:12393845 PMID:15070752 PMID:15472169 PMID:15937081 PMID:20140086 PMID:25551525 PMID:25741868 PMID:28209183 PMID:28492532 More...
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
severity |
ISO |
associated with Kidney Failure, Chronic |
RGD |
PMID:22943310 |
RGD:7205482 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Cenpc |
centromere protein C |
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ISO |
associated with Anticentromere antibody positivity |
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476
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G |
Fbn1 |
fibrillin 1 |
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ISO |
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RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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G |
Cth |
cystathionine gamma-lyase |
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ISO |
ClinVar Annotator: match by term: Cystathioninuria | ClinVar Annotator: match by term: Gamma-cystathionase deficiency |
OMIM ClinVar |
PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 PMID:20584029 PMID:23555315 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema |
ClinVar |
PMID:25741868 |
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NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH |
OMIM ClinVar |
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29576450 PMID:29952828 More...
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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G |
Irak1bp1 |
interleukin-1 receptor-associated kinase 1 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features |
ClinVar |
PMID:23033978 PMID:25741868 PMID:28492532 PMID:29209020 |
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NCBI chr 8:83,731,512...83,748,289
Ensembl chr 8:83,731,507...83,748,289
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G |
Phip |
pleckstrin homology domain interacting protein |
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ISO |
ClinVar Annotator: match by term: Developmental delay, intellectual disability, obesity, and dysmorphic features | ClinVar Annotator: match by term: PHIP-Related Disorder |
OMIM ClinVar |
PMID:16199547 PMID:23033978 PMID:25741868 PMID:27479843 PMID:27900362 PMID:28263302 PMID:28492532 PMID:29209020 More...
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NCBI chr 8:83,776,802...83,891,192
Ensembl chr 8:83,781,465...83,894,283
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G |
Aqp2 |
aquaporin 2 |
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ISO |
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RGD |
PMID:12021537 |
RGD:2314345 |
NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
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G |
Ins2 |
insulin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11430560 |
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NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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G |
Insr |
insulin receptor |
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ISO |
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RGD |
PMID:15254588 |
RGD:1302526 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Pax4 |
paired box 4 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone, susceptibility to |
OMIM ClinVar |
PMID:15509590 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
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G |
Serpina7 |
serpin family A member 7 |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:6768790 |
RGD:2312332 |
NCBI chr X:102,663,242...102,722,319
Ensembl chr X:102,663,405...102,669,040
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G |
Slc29a1 |
solute carrier family 29 member 1 |
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ISS |
OMIM:106400 |
MouseDO |
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NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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G |
Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia |
ClinVar |
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2983592 PMID:3966479 PMID:7054696 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9217223 PMID:9253359 PMID:9395465 PMID:9422777 PMID:9536098 PMID:9661634 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10488104 PMID:10770217 PMID:10843194 PMID:10885494 PMID:10912749 PMID:10912782 PMID:10971459 PMID:11013439 PMID:11102444 PMID:11136551 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11701698 PMID:11733622 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12114500 PMID:12162500 PMID:12239240 PMID:12574188 PMID:12574201 PMID:12580936 PMID:12733714 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14519094 PMID:14714270 PMID:14997007 PMID:15292296 PMID:15531522 PMID:15551332 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15751724 PMID:15864123 PMID:15879434 PMID:15963484 PMID:16199547 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16649980 PMID:16740594 PMID:16918956 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17576681 PMID:17698911 PMID:17803689 PMID:17974727 PMID:18219222 PMID:18296474 PMID:18328986 PMID:18410554 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18887540 PMID:19073830 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19763152 PMID:19779033 PMID:19789209 PMID:20034274 PMID:20119591 PMID:20164288 PMID:20307669 PMID:20335782 PMID:20335783 PMID:20374733 PMID:20602573 PMID:20631026 PMID:20668040 PMID:20798521 PMID:20972686 PMID:21175100 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21441391 PMID:21521328 PMID:21645025 PMID:21844754 PMID:22024717 PMID:22142470 PMID:22187299 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22406018 PMID:22422767 PMID:22620673 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23265383 PMID:23372019 PMID:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24244430 PMID:24297799 PMID:24394414 PMID:24517148 PMID:24735972 PMID:24763815 PMID:24823460 PMID:24854525 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25765207 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26290606 PMID:26323216 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27390877 PMID:27418061 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:28870973 PMID:29026550 PMID:29846619 PMID:29848507 PMID:30019023 PMID:30052933 PMID:30306783 PMID:30407919 PMID:31433865 PMID:31433868 PMID:31672324 PMID:32160303 PMID:32347971 PMID:32386559 PMID:32638038 More...
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NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Casr |
calcium-sensing receptor |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.A213E (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human) |
ClinVar CTD OMIM RGD |
PMID:791660 PMID:1302026 PMID:1706284 PMID:2211966 PMID:3966479 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8878438 PMID:9011580 PMID:9109436 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10770217 PMID:10843194 PMID:10912749 PMID:10912782 PMID:11013439 PMID:11102444 PMID:11134112 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11733622 PMID:11762699 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12095982 PMID:12114500 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14997007 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15579740 PMID:15598778 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16199547 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:16740594 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18887540 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19953642 PMID:20164288 PMID:20290361 PMID:20602573 PMID:20798521 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22798347 PMID:23077345 PMID:23372019 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24735972 PMID:25091521 PMID:25104082 PMID:25292184 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25766501 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27390877 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30407919 PMID:32347971 PMID:7493018 PMID:21034470 PMID:7726161 PMID:7916660 More...
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RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 |
OMIM ClinVar |
PMID:23802516 PMID:26729423 |
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NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
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G |
Ap2s1 |
adaptor related protein complex 2 subunit sigma 1 |
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ISO |
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1524075 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 PMID:25741868 PMID:26082470 PMID:27050234 PMID:27761240 PMID:27913609 PMID:28492532 PMID:29325022 PMID:29420171 More...
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NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905
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G |
Fgf23 |
fibroblast growth factor 23 |
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TAS |
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RGD |
PMID:12419819 |
RGD:1303356 |
NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Phex |
phosphate regulating endopeptidase homolog, X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets |
CTD ClinVar |
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904 More...
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NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
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NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Prss1 |
serine protease 1 |
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ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:24002981 PMID:24458023 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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G |
Vdr |
vitamin D receptor |
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ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:23180655 PMID:24033266 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 More...
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NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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G |
Apoa1 |
apolipoprotein A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18458655 |
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NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apob |
apolipoprotein B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18458655 |
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NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Ttpa |
alpha tocopherol transfer protein |
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ISO |
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3477125 PMID:3837850 PMID:7566022 PMID:7719340 PMID:8602747 PMID:8965888 PMID:9270601 PMID:9463307 PMID:9536098 PMID:9588854 PMID:9931538 PMID:10360777 PMID:10896705 PMID:11013295 PMID:11752462 PMID:11916749 PMID:12039660 PMID:12112220 PMID:12470185 PMID:12899840 PMID:12907280 PMID:14657365 PMID:15065857 PMID:15300460 PMID:15953402 PMID:16199547 PMID:16819822 PMID:17049453 PMID:17576681 PMID:18414213 PMID:18458085 PMID:18458655 PMID:19566498 PMID:21228398 PMID:22479462 PMID:22696689 PMID:23077608 PMID:23445347 PMID:23599266 PMID:23713716 PMID:24033266 PMID:24369383 PMID:25066259 PMID:25614784 PMID:25741868 PMID:26068213 PMID:26467025 PMID:27274910 PMID:27307040 PMID:28492532 PMID:31970222 PMID:34563650 More...
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NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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G |
Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease |
ClinVar |
PMID:12161522 PMID:17878605 PMID:25536396 PMID:25700310 PMID:25741868 PMID:33532864 More...
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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G |
Ren |
renin |
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ISS |
OMIM:162000 | OMIM:613092 | OMIM:614227 |
MouseDO |
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NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
Sec63 |
SEC63 homolog, protein translocation regulator |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease |
ClinVar |
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NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
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G |
Umod |
uromodulin |
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ISS ISO |
OMIM:162000 | OMIM:613092 | OMIM:614227 ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease |
MouseDO ClinVar |
PMID:20172860 PMID:23748428 PMID:25741868 PMID:29204651 PMID:30773290 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32926855 More...
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NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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G |
Ermap |
erythroblast membrane associated protein (Scianna blood group) |
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ISO |
ClinVar Annotator: match by term: Radin blood group |
ClinVar |
PMID:12393480 |
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NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
DNA:polymorphism: : |
RGD |
PMID:19129718 |
RGD:11100009 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Slc29a1 |
solute carrier family 29 member 1 |
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ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
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NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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G |
Maoa |
monoamine oxidase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22340208 |
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NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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G |
Dhfr |
dihydrofolate reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21310277 |
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NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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G |
Igf1 |
insulin-like growth factor 1 |
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IEP |
protein:decreased expression:serum, cranial bone (rat) |
RGD |
PMID:16111879 |
RGD:12910463 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
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IEP |
mRNA,protein:decreased expression:stomach: |
RGD |
PMID:20040059 |
RGD:12911222 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Kitlg |
KIT ligand |
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IEP |
mRNA:decreased expression:stomach: |
RGD |
PMID:20040059 |
RGD:12911222 |
NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 |
OMIM ClinVar |
PMID:8960499 PMID:9536098 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11159191 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:15940697 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:17576681 PMID:19206175 PMID:19229237 PMID:20016754 PMID:20137773 PMID:22209248 PMID:22539483 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27467858 PMID:28492532 PMID:29141319 PMID:29244957 PMID:31826312 PMID:32573669 More...
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NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 |
OMIM ClinVar |
PMID:10811882 PMID:10835642 PMID:11179012 PMID:11439001 PMID:11536079 PMID:12176944 PMID:12384774 PMID:12673275 PMID:12714611 PMID:16086317 PMID:16199547 PMID:16541094 PMID:16573612 PMID:16835894 PMID:17617515 PMID:18157818 PMID:18253096 PMID:18800149 PMID:19339160 PMID:20034067 PMID:21935449 PMID:22209248 PMID:23483032 PMID:24008425 PMID:24088041 PMID:25264593 PMID:25265166 PMID:25741868 PMID:26633545 PMID:26982014 PMID:27994049 PMID:28102862 PMID:28492532 PMID:28655553 PMID:29722917 PMID:30154241 PMID:30537162 PMID:30805891 PMID:32873932 More...
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28427446 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 More...
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia DNA:mutations:cds:multiple (human) |
OMIM ClinVar RGD |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28166811 PMID:28492532 PMID:30518689 PMID:30561119 PMID:32827848 PMID:21327084 More...
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RGD:9588626 |
NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
ClinVar Annotator: match by term: Heme oxygenase 1 deficiency |
OMIM ClinVar |
PMID:9884342 PMID:21088618 PMID:22023467 PMID:26526137 PMID:28492532 PMID:32587840 PMID:33066778 More...
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Akr1d1 |
aldo-keto reductase family 1, member D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18624455 |
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NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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G |
Alad |
aminolevulinate dehydratase |
treatment |
IDA |
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RGD |
PMID:3679087 |
RGD:12904688 |
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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G |
Alas2 |
5'-aminolevulinate synthase 2 |
severity |
ISO |
DNA:mutation:cds:c.15599C>T,p.520L(human) |
RGD |
PMID:16446107 |
RGD:11035246 |
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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G |
B2m |
beta-2 microglobulin |
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ISS |
OMIM:231100 |
MouseDO |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Bmp2 |
bone morphogenetic protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Bmp6 |
bone morphogenetic protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19252486 PMID:19252488 |
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NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
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G |
Cp |
ceruloplasmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17258727 |
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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G |
Hamp |
hepcidin antimicrobial peptide |
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ISO |
juvenile hereditary hemochromatosis, HFE2B, OMIM:602390 ClinVar Annotator: match by term: Hemochromatosis, juvenile, digenic | ClinVar Annotator: match by term: Hereditary hemochromatosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:12469120 PMID:12915468 PMID:14630809 PMID:14670915 PMID:15024747 PMID:15082576 PMID:15099344 PMID:16574947 PMID:16627556 PMID:17255318 PMID:17576681 PMID:19214511 PMID:19252486 PMID:19787796 PMID:21088809 PMID:21411349 PMID:22297252 PMID:22383097 PMID:25741868 PMID:28492532 PMID:33016646 PMID:12469120 More...
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RGD:1599358 |
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hfe |
homeostatic iron regulator |
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ISO |
ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis DNA:missense mutation: :p.C282Y (rs1800562) (human) CTD Direct Evidence: marker/mechanism associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human) DNA:missense mutation:cds:p.S65C (human) |
ClinVar CTD RGD |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9546397 PMID:9585606 PMID:9851896 PMID:9851897 PMID:9858853 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10545942 PMID:10545944 PMID:10575540 PMID:10610176 PMID:10612845 PMID:10660483 PMID:10930379 PMID:10953950 PMID:11040194 PMID:11050162 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11903354 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12537660 PMID:12542741 PMID:12584229 PMID:12681966 PMID:12707220 PMID:12737937 PMID:12885340 PMID:12915468 PMID:12952143 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15025725 PMID:15046077 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15477198 PMID:15546588 PMID:15775762 PMID:15858186 PMID:15965644 PMID:16132052 PMID:16186539 PMID:16199547 PMID:16793930 PMID:16879202 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17079357 PMID:17119292 PMID:17210810 PMID:17236123 PMID:17255318 PMID:17258727 PMID:17308297 PMID:17376729 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18317567 PMID:18499578 PMID:18504828 PMID:18566337 PMID:18762941 PMID:19084217 PMID:19159930 PMID:19214108 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:19759876 PMID:19787796 PMID:20107990 PMID:20160468 PMID:20301613 PMID:20560808 PMID:20843714 PMID:21228038 PMID:21243428 PMID:21349849 PMID:21411349 PMID:21452290 PMID:22383097 PMID:22531912 PMID:22624560 PMID:22890139 PMID:23178241 PMID:23429074 PMID:23705020 PMID:23953397 PMID:24033266 PMID:24442307 PMID:24604426 PMID:24729993 PMID:24872867 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:25874029 PMID:26153218 PMID:26365338 PMID:26456104 PMID:26799139 PMID:26975792 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27667161 PMID:27890643 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:29590070 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31436889 PMID:31980526 PMID:32153640 PMID:8696333 PMID:30651232 PMID:12850493 PMID:12190960 PMID:10194428 More...
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RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hjv |
hemojuvelin BMP co-receptor |
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ISO |
juvenile hemochromatosis, type 2A, OMIM:602390 CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 |
RGD:1599478 |
NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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G |
Hmox1 |
heme oxygenase 1 |
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ISS |
OMIM:231100 |
MouseDO |
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NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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G |
Slc11a2 |
solute carrier family 11 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11439223 |
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NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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G |
Slc40a1 |
solute carrier family 40 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary hemochromatosis |
CTD ClinVar |
PMID:16457665 PMID:21411349 |
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NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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G |
Tfr2 |
transferrin receptor 2 |
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ISO |
hemochromatosis, type 3, HFE3, OMIM:604250 ClinVar Annotator: match by term: Hereditary hemochromatosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:11313241 PMID:12130528 PMID:12150153 PMID:14633868 PMID:15147384 PMID:16199547 PMID:16424658 PMID:16935854 PMID:17241880 PMID:17562347 PMID:17576681 PMID:17951290 PMID:18245657 PMID:18450729 PMID:18762941 PMID:20301523 PMID:21411349 PMID:21770687 PMID:21901660 PMID:22383097 PMID:22890139 PMID:23556518 PMID:23600741 PMID:24055163 PMID:25741868 PMID:26029709 PMID:26408288 PMID:27667161 PMID:28276324 PMID:28492532 PMID:10802645 More...
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RGD:1599386 |
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-238G>A (rs361525) (human) DNA:SNP:promoter:-308G>A (human) |
CTD RGD |
PMID:16793930 PMID:11389006 PMID:16793930 |
RGD:12904656, RGD:12904050 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Bmp2 |
bone morphogenetic protein 2 |
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ISO |
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OMIM |
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NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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G |
Hamp |
hepcidin antimicrobial peptide |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 1 |
ClinVar |
PMID:9536098 PMID:12469120 PMID:12915468 PMID:17576681 PMID:19214511 PMID:22297252 PMID:28492532 More...
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NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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G |
Hfe |
homeostatic iron regulator |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 1 |
OMIM ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9546397 PMID:9585606 PMID:9851896 PMID:9851897 PMID:9858853 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10612845 PMID:10660483 PMID:10930379 PMID:10950943 PMID:10953950 PMID:11040194 PMID:11336458 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12537660 PMID:12542741 PMID:12584229 PMID:12681966 PMID:12707220 PMID:12737937 PMID:12885340 PMID:12915468 PMID:12952143 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15025725 PMID:15046077 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15477198 PMID:15546588 PMID:15775762 PMID:15858186 PMID:15965644 PMID:16132052 PMID:16186539 PMID:16879202 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17079357 PMID:17210810 PMID:17240320 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:18762941 PMID:19084217 PMID:19159930 PMID:19214108 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:19681031 PMID:19759876 PMID:19787796 PMID:20107990 PMID:20301613 PMID:20560808 PMID:20609690 PMID:20722017 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:22624560 PMID:23178241 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:24872867 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26456104 PMID:26799139 PMID:26975792 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27667161 PMID:27890643 PMID:28443246 PMID:28492532 PMID:28617828 PMID:29404719 PMID:29590070 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31436889 PMID:31980526 PMID:32153640 More...
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NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hjv |
hemojuvelin BMP co-receptor |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 1 |
ClinVar |
PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 PMID:15254010 PMID:15610558 PMID:15811010 PMID:16103117 PMID:17339196 PMID:18827264 PMID:19796184 PMID:22408404 PMID:24033266 PMID:28492532 More...
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NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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G |
Slc40a1 |
solute carrier family 40 member 1 |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
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G |
Tfr2 |
transferrin receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 1 | ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of |
ClinVar |
PMID:12150153 PMID:16424658 PMID:22890139 PMID:23600741 PMID:24055163 PMID:26029709 PMID:28492532 More...
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NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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G |
Hamp |
hepcidin antimicrobial peptide |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of | ClinVar Annotator: match by term: Juvenile hemochromatosis |
ClinVar |
PMID:12915468 PMID:19214511 PMID:28492532 |
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NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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G |
Hfe |
homeostatic iron regulator |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 2 |
ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10381492 PMID:10401000 PMID:10431233 PMID:11040194 PMID:11532995 PMID:11812557 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:20301613 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27659401 PMID:27890643 PMID:28492532 PMID:31061747 PMID:31436889 PMID:31980526 PMID:32153640 More...
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NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hjv |
hemojuvelin BMP co-receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemochromatosis type 2 | ClinVar Annotator: match by term: Juvenile hemochromatosis |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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G |
Ankrd34a |
ankyrin repeat domain 34A |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 2A |
ClinVar |
PMID:28492532 |
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NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
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G |
Hjv |
hemojuvelin BMP co-receptor |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 2A |
OMIM ClinVar |
PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 PMID:15254010 PMID:15461631 PMID:15610558 PMID:15775751 PMID:15811010 PMID:16103117 PMID:17339196 PMID:17490902 PMID:17726683 PMID:17938254 PMID:18492090 PMID:18827264 PMID:18976966 PMID:19342478 PMID:19796184 PMID:19907145 PMID:20301349 PMID:21411349 PMID:21901660 PMID:22408404 PMID:24033266 PMID:25741868 PMID:27753142 PMID:28363629 PMID:28492532 PMID:30166352 PMID:30195625 PMID:30389309 More...
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NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
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G |
Polr3gl |
RNA polymerase III subunit G like |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 2A |
ClinVar |
PMID:28492532 |
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NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
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G |
Txnip |
thioredoxin interacting protein |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 2A |
ClinVar |
PMID:28492532 |
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NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
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G |
Hamp |
hepcidin antimicrobial peptide |
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ISO |
ClinVar Annotator: match by term: Hemochromatosis type 2B |
OMIM ClinVar |
PMID:12469120 PMID:12915468 PMID:15082576 PMID:15198949 PMID:19214511 PMID:21088809 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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