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: | Infant, Newborn, Diseases |
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Accession: | DOID:9003548
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browse the term
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Definition: | Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts. |
Synonyms: | exact_synonym: | Neonatal Disease; Neonatal Diseases |
| broad_synonym: | perinatal disease |
| primary_id: | MESH:D007232 |
| alt_id: | RDO:0004815 |
| xref: | EFO:0010238 |
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Fkbp5 |
FKBP prolyl isomerase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25115650 |
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NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29483653 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Ada |
adenosine deaminase |
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ISO |
ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
OMIM ClinVar |
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1680289 PMID:1696926 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:11901152 PMID:14499267 PMID:16199547 PMID:16276484 PMID:16825284 PMID:17001642 PMID:17181544 PMID:17185467 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:23348723 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28492532 PMID:29744787 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 PMID:32888943 PMID:33628209 More...
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NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cd3g |
CD3 gamma subunit of T-cell receptor complex |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 |
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NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Dock8 |
dedicator of cytokinesis 8 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 PMID:25724123 PMID:25741868 PMID:26046366 PMID:26744459 PMID:28492532 PMID:31980526 More...
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NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:32754152 PMID:33365035 More...
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24033266 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:16276422 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18822103 PMID:19178939 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25516070 PMID:25741868 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30778343 PMID:30877075 PMID:33365035 PMID:33628209 More...
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Krt1 |
keratin 1 |
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ISO |
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis |
ClinVar |
PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 PMID:31046801 More...
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NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10 |
keratin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Annular epidermolytic ichthyosis |
CTD ClinVar |
PMID:22035476 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt10 |
keratin 10 |
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ISO |
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OMIM |
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NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt1 |
keratin 1 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 |
OMIM ClinVar |
PMID:10053007 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 More...
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NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963755 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Asphyxia neonatorum |
ClinVar |
PMID:8364588 PMID:25741868 |
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NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IEP |
mRNA:increased expression:brain |
RGD |
PMID:9763211 |
RGD:2302855 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IEP |
mRNA:decreased expression:brain |
RGD |
PMID:9763211 |
RGD:2302855 |
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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Gstm1 |
glutathione S-transferase mu 1 |
severity |
ISO |
DNA:deletion, haplotype:: (human) |
RGD |
PMID:21058530 |
RGD:12792218 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Htra2 |
HtrA serine peptidase 2 |
treatment |
IEP |
protein:increased expression:kidney: |
RGD |
PMID:20704803 |
RGD:10402931 |
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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Map2 |
microtubule-associated protein 2 |
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IEP |
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RGD |
PMID:21858873 |
RGD:6483085 |
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Pdia3 |
protein disulfide isomerase family A, member 3 |
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IEP |
protein:increased expression:hippocampus: |
RGD |
PMID:15453273 |
RGD:9999183 |
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Psen1 |
presenilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963755 |
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NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Psen2 |
presenilin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963755 |
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NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963755 |
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NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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S100b |
S100 calcium binding protein B |
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ISO |
protein:increased expression:urine |
RGD |
PMID:14707571 |
RGD:5508819 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963755 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17963755 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Xrcc1 |
X-ray repair cross complementing 1 |
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IEP |
mRNA:increased expression:brain |
RGD |
PMID:9763211 |
RGD:2302855 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Gjb2 |
gap junction protein, beta 2 |
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ISO |
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant DNA:mutation:cds:p.D50N (human) p.G45E(mouse) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human) |
ClinVar OMIM RGD |
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34335733 PMID:34440441 PMID:35396755 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:20926451 PMID:23924173 PMID:22031297 PMID:18950394 PMID:20307501 More...
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RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 |
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:9536098 PMID:15756637 PMID:17508018 PMID:17576681 PMID:17684380 PMID:19262603 PMID:20672373 PMID:20849526 PMID:22992804 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:31168818 PMID:31586585 PMID:32707200 More...
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NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:9536098 PMID:16116617 PMID:17576681 PMID:18347291 PMID:19131948 PMID:19890349 PMID:23621129 PMID:24033266 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29687370 PMID:31168818 PMID:31642606 PMID:31953843 PMID:33255364 PMID:33435499 PMID:33726816 PMID:34008892 PMID:34379964 More...
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29130490 PMID:29935003 PMID:30270455 PMID:30578701 PMID:31168818 PMID:33435499 PMID:33786896 More...
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Cers3 |
ceramide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:28875980 PMID:30578701 PMID:33492757 |
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NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:16436457 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:27025581 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33786896 More...
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NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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G |
Ebp |
EBP, cholestenol delta-isomerase |
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ISO |
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RGD |
PMID:12668600 |
RGD:2316868 |
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P |
RGD |
PMID:9195225 |
RGD:1601069 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Nipal4 |
NIPA-like domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22098531 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29444371 PMID:29453417 PMID:31046801 PMID:31168818 PMID:31532840 PMID:33786896 More...
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NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
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RGD |
PMID:12668600 |
RGD:2316868 |
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Pnpla1 |
patatin-like phospholipase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:3757302 PMID:22246504 PMID:24344921 PMID:26691440 PMID:26778108 PMID:28093717 PMID:28369476 PMID:28403545 PMID:28492532 More...
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NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
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Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosis of skin |
ClinVar |
PMID:25741868 PMID:28369735 PMID:28492532 PMID:28906551 PMID:31671075 PMID:33422619 More...
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NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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Slc27a4 |
solute carrier family 27 member 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:19631310 PMID:21450060 PMID:22927265 PMID:26783444 PMID:27025581 PMID:28492532 More...
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NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:7581379 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10482949 PMID:10914678 PMID:11407995 PMID:11511296 PMID:14996130 PMID:16968736 PMID:18948357 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19863506 PMID:19890349 PMID:20167857 PMID:20663883 PMID:21895619 PMID:22258055 PMID:22801880 PMID:23096117 PMID:23278109 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:25154629 PMID:25525159 PMID:25741868 PMID:25766764 PMID:26076875 PMID:26594337 PMID:26762237 PMID:27025581 PMID:28403434 PMID:28492532 PMID:30578701 PMID:30693114 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 More...
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NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Ugcg |
UDP-glucose ceramide glucosyltransferase |
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ISO |
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma |
ClinVar |
PMID:29417556 |
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NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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Abca12 |
ATP binding cassette subfamily A member 12 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16675967 PMID:12915478 |
RGD:1598548 |
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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Abhd5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
susceptibility |
ISO |
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RGD |
PMID:11590543 |
RGD:1598668 |
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21739938 |
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21739938 PMID:11773004 |
RGD:1599073 |
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar |
PMID:28575648 |
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NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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G |
Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar OMIM RGD |
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10232404 PMID:10482949 PMID:10694685 PMID:10886517 PMID:10914678 PMID:11251583 PMID:11298529 PMID:11348475 PMID:11407995 PMID:11511296 PMID:12535215 PMID:12542526 PMID:14996130 PMID:16133457 PMID:16199547 PMID:16280294 PMID:16908342 PMID:16968736 PMID:16977323 PMID:17635512 PMID:18669893 PMID:18948357 PMID:19156839 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19278426 PMID:19500103 PMID:19863506 PMID:19890349 PMID:20021785 PMID:20137757 PMID:20167857 PMID:20301779 PMID:20522418 PMID:20663883 PMID:21199492 PMID:21668430 PMID:21895619 PMID:22211879 PMID:22258055 PMID:22311480 PMID:22437313 PMID:22511925 PMID:22622417 PMID:22801880 PMID:22992804 PMID:23096117 PMID:23192619 PMID:23278109 PMID:23621129 PMID:23689228 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:24824130 PMID:25154629 PMID:25525159 PMID:25741868 PMID:25766764 PMID:25998749 PMID:26076875 PMID:26220141 PMID:26594337 PMID:26620441 PMID:26762237 PMID:26990434 PMID:27025581 PMID:27442430 PMID:28403434 PMID:28488422 PMID:28492532 PMID:28747283 PMID:30578701 PMID:30600594 PMID:30693114 PMID:30950025 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 PMID:7824952 More...
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RGD:1599417 |
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 |
ClinVar |
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 |
ClinVar |
PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 PMID:25959266 PMID:26138355 PMID:26704558 PMID:27535030 PMID:28492532 PMID:28733343 PMID:29390993 PMID:29455050 PMID:29852413 PMID:31780880 PMID:32139178 PMID:32917465 PMID:34055682 PMID:34120799 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Pnpla1 |
patatin-like phospholipase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 |
OMIM ClinVar |
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 PMID:25741868 PMID:26424960 PMID:26691440 PMID:26778108 PMID:27884173 PMID:27884779 PMID:28369476 PMID:28403545 PMID:28492532 PMID:30409984 PMID:33727708 More...
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NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
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St14 |
ST14 transmembrane serine protease matriptase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 PMID:25741868 PMID:28492532 PMID:29611532 More...
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NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Casp14 |
caspase 14 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 |
OMIM ClinVar |
PMID:25741868 PMID:27494380 PMID:28492532 |
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NCBI chr 7:10,929,759...10,932,591
Ensembl chr 7:10,926,725...10,933,405
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G |
Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 |
OMIM ClinVar |
PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 PMID:31671075 PMID:33422619 More...
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NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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G |
Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14 |
OMIM ClinVar |
PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648 |
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NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
OMIM ClinVar |
PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 PMID:17576681 PMID:18347291 PMID:18414213 PMID:19131948 PMID:19890349 PMID:20222929 PMID:22622417 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25524567 PMID:25741868 PMID:25998749 PMID:26762237 PMID:26863999 PMID:27025581 PMID:28492532 PMID:29687370 PMID:31046801 PMID:31168818 PMID:31642606 PMID:31953843 PMID:33435499 PMID:33726816 PMID:34008892 PMID:34379964 PMID:35052464 More...
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
CTD ClinVar |
PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 PMID:30578701 PMID:31046801 PMID:31168818 More...
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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G |
Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 |
ClinVar |
PMID:17496163 PMID:28575648 |
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NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 |
OMIM ClinVar |
PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 PMID:19131948 PMID:19890349 PMID:21668430 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:30270455 PMID:30578701 PMID:31046801 PMID:31642606 PMID:32978145 PMID:33435499 PMID:33786896 More...
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Gucy2d |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 |
ClinVar |
PMID:24824130 |
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A |
OMIM ClinVar |
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:19262603 PMID:19664001 PMID:20672373 PMID:22257947 PMID:22992804 PMID:23528209 PMID:25741868 PMID:28295493 PMID:28492532 PMID:29722424 PMID:29880184 PMID:29887490 PMID:30600594 PMID:30916489 PMID:32707200 PMID:32851342 More...
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NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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G |
Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B |
OMIM ClinVar |
PMID:15756637 PMID:16902423 PMID:17684380 PMID:19262603 PMID:19664001 PMID:20672373 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:29543227 PMID:29880184 PMID:30916489 PMID:31168818 PMID:31586585 PMID:34906502 PMID:35216886 More...
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NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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G |
Cst6 |
cystatin E/M |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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G |
Prss8 |
serine protease 8 |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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G |
Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 |
OMIM ClinVar |
PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33223529 PMID:33786896 More...
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NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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G |
Nipal4 |
NIPA-like domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 |
OMIM ClinVar |
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22098531 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29444371 PMID:29453417 PMID:31046801 PMID:31168818 PMID:31532840 PMID:33786896 More...
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NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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G |
Lipn |
lipase, family member N |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
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G |
Cers3 |
ceramide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 |
OMIM ClinVar |
PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532 |
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NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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G |
Robo1 |
roundabout guidance receptor 1 |
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ISO |
ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive |
OMIM ClinVar |
PMID:35348658 |
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NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
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G |
Tnk2 |
tyrosine kinase, non-receptor, 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy |
ClinVar |
PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532 |
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NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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G |
Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
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G |
Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Pitx2 |
paired-like homeodomain 2 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:30457409 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
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NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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G |
Prdm5 |
PR/SET domain 5 |
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ISO |
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 |
ClinVar |
PMID:26489929 |
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NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 |
ClinVar |
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NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia |
OMIM ClinVar |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 PMID:9430594 PMID:9536098 PMID:9872318 PMID:10323247 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14669214 PMID:14985406 PMID:15030501 PMID:15178210 PMID:15249611 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18006581 PMID:18246739 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19818940 PMID:20119593 PMID:20437616 PMID:21913284 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23290024 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29852413 PMID:29933521 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:31019026 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:32139178 PMID:32184343 PMID:32362866 PMID:32860008 PMID:32917465 PMID:33659638 PMID:33754465 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35557555 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 |
ClinVar |
PMID:12742592 PMID:15249611 PMID:17129708 PMID:18625963 PMID:19464834 PMID:28492532 PMID:29314763 PMID:31199083 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 DNA:missense mutation:cds:p.W309R (human) DNA:missense mutation:cds:p.G263V (human) |
OMIM ClinVar RGD |
PMID:1859177 PMID:9425900 PMID:9536098 PMID:10852552 PMID:14534157 PMID:16235065 PMID:16883520 PMID:17576681 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18425618 PMID:18625963 PMID:19167866 PMID:19344764 PMID:19464834 PMID:20437616 PMID:21687499 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25524373 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:26582918 PMID:27888506 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:31785789 PMID:32086284 PMID:33004838 PMID:34356170 PMID:10852552 PMID:9425900 More...
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RGD:9686433, RGD:9686418 |
NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia |
ClinVar |
PMID:24375629 PMID:25741868 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1 |
ClinVar |
PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17872363 PMID:17993630 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:20119593 PMID:20437616 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29852413 PMID:29933521 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:31019026 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:32139178 PMID:32184343 PMID:32362866 PMID:32860008 PMID:32917465 PMID:33659638 PMID:33754465 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35557555 More...
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
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ISO |
ClinVar Annotator: match by term: neonatal seizures |
ClinVar |
PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 More...
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NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
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RGD |
PMID:12953268 |
RGD:1358436 |
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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G |
Ccn4 |
cellular communication network factor 4 |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
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G |
Diaph1 |
diaphanous-related formin 1 |
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ISO |
ClinVar Annotator: match by term: Neonatal seizure |
ClinVar |
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NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
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G |
Dnaaf11 |
dynein axonemal assembly factor 11 |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Benign neonatal seizures |
CTD ClinVar |
PMID:18625963 PMID:19380078 PMID:19464834 PMID:26910900 PMID:28492532 |
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NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISS ISO |
OMIM:121200 | OMIM:121201 | OMIM:269720 ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures |
MouseDO ClinVar |
PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 PMID:16883520 PMID:17576681 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:19464834 PMID:20437616 PMID:21687499 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25524373 PMID:25640679 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:26582918 PMID:27888506 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 PMID:29655203 PMID:29778030 PMID:29808309 PMID:29852413 PMID:30348901 PMID:30578330 PMID:31177578 PMID:31238879 PMID:31440727 PMID:31785789 PMID:32086284 PMID:32613771 PMID:33004838 PMID:34356170 More...
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NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Phf20l1 |
PHD finger protein 20-like 1 |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: neonatal seizures |
ClinVar |
PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 PMID:21880868 PMID:25741868 PMID:28471437 PMID:28492532 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Benign Neonatal Epilepsy |
ClinVar |
PMID:20371507 PMID:25741868 PMID:27779742 PMID:28379373 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31904120 PMID:35431799 More...
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NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Sla |
src-like adaptor |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
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G |
Tg |
thyroglobulin |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
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G |
Tmem71 |
transmembrane protein 71 |
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ISO |
ClinVar Annotator: match by term: Benign neonatal seizures |
ClinVar |
PMID:28492532 PMID:29383681 PMID:29852413 |
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NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
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IEP |
mRNA:increased expression:multiple organs (rat) |
RGD |
PMID:18554634 |
RGD:4890426 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Abhd4 |
abhydrolase domain containing 4, N-acyl phospholipase B |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966
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G |
Acin1 |
apoptotic chromatin condensation inducer 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
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G |
Adcy4 |
adenylate cyclase 4 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
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G |
Ajuba |
ajuba LIM protein |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
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G |
Akap6 |
A-kinase anchoring protein 6 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
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G |
Ang |
angiogenin |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:24,317,733...24,323,361
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G |
Ap1g2 |
adaptor related protein complex 1 subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
|
|
G |
Ap4s1 |
adaptor related protein complex 4 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
|
|
G |
Arf6 |
ADP-ribosylation factor 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114
|
|
G |
Arhgap5 |
Rho GTPase activating protein 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
|
|
G |
Arhgef40 |
Rho guanine nucleotide exchange factor 40 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
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|
G |
Baz1a |
bromodomain adjacent to zinc finger domain, 1A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
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|
G |
Bcl2l2 |
Bcl2-like 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
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G |
Brms1l |
BRMS1 like transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:73,266,673...73,300,631
Ensembl chr 6:73,266,691...73,300,631
|
|
G |
C15h14orf119 |
similar to human chromosome 14 open reading frame 119 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
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G |
Carmil3 |
capping protein regulator and myosin 1 linker 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
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G |
Cbln3 |
cerebellin 3 precursor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,361,885...29,364,778
Ensembl chr15:29,362,302...29,364,612
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G |
Cdh24 |
cadherin 24 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
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G |
Cebpe |
CCAAT/enhancer binding protein epsilon |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814
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G |
Cfl2 |
cofilin 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
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G |
Chd8 |
chromodomain helicase DNA binding protein 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
|
|
G |
Cideb |
cell death-inducing DFFA-like effector b |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,252,203...29,256,759
Ensembl chr15:29,252,213...29,256,605
|
|
G |
Clec14a |
C-type lectin domain containing 14A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612
|
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G |
Cma1 |
chymase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
|
|
G |
Cmtm5 |
CKLF-like MARVEL transmembrane domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
|
|
G |
Coch |
cochlin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
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G |
Cpne6 |
copine 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
|
|
G |
Ctsg |
cathepsin G |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
|
|
G |
Dad1 |
defender against cell death 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,677,285...27,697,275
Ensembl chr15:27,677,268...27,697,347
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|
G |
Dcaf11 |
DDB1 and CUL4 associated factor 11 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
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G |
Dhrs1 |
dehydrogenase/reductase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
|
|
G |
Dhrs2 |
dehydrogenase/reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
|
|
G |
Dhrs4 |
dehydrogenase/reductase 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
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|
G |
Dnaaf2 |
dynein, axonemal, assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
|
|
G |
Dtd2 |
D-aminoacyl-tRNA deacylase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
|
|
G |
Eapp |
E2F-associated phosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734
|
|
G |
Eddm3b |
epididymal protein 3B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,343,835...24,346,774
Ensembl chr15:24,345,573...24,346,025
|
|
G |
Efs |
embryonal Fyn-associated substrate |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
|
|
G |
Egln3 |
egl-9 family hypoxia-inducible factor 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
|
|
G |
Emc9 |
ER membrane protein complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
|
|
G |
Fam177a1 |
family with sequence similarity 177, member A1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,632,587...72,647,052
Ensembl chr 6:72,632,623...72,647,553
|
|
G |
Fancm |
FA complementation group M |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
|
|
G |
Fbxo33 |
F-box protein 33 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669
|
|
G |
Fitm1 |
fat storage-inducing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
|
|
G |
Fkbp3 |
FKBP prolyl isomerase 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
|
|
G |
Foxa1 |
forkhead box A1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
|
|
G |
Foxg1 |
forkhead box G1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
|
|
G |
Fscb |
fibrous sheath CABYR binding protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:82,527,849...82,530,641
|
|
G |
G2e3 |
G2/M-phase specific E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
|
|
G |
Gemin2 |
gem (nuclear organelle) associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153
|
|
G |
Gmpr2 |
guanosine monophosphate reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
|
|
G |
Gpr33-ps1 |
G protein-coupled receptor 33, pseudogene 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
|
|
G |
Gzmb |
granzyme B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:30,343,361...30,346,792
Ensembl chr15:30,173,603...30,346,814
|
|
G |
Gzmf |
granzyme F |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
|
|
G |
Haus4 |
HAUS augmin-like complex, subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
|
|
G |
Heatr5a |
HEAT repeat containing 5A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
|
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G |
Hectd1 |
HECT domain E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,181,429...69,267,803
Ensembl chr 6:69,181,436...69,268,053
|
|
G |
Hnrnpc |
heterogeneous nuclear ribonucleoprotein C |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
|
|
G |
Homez |
homeobox and leucine zipper encoding |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
|
|
G |
Il25 |
interleukin 25 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
|
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G |
Insm2 |
INSM transcriptional repressor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,973,897...72,977,777
|
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G |
Ipo4 |
importin 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
|
|
G |
Irf9 |
interferon regulatory factor 9 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
|
|
G |
Jph4 |
junctophilin 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
|
|
G |
Khnyn |
KH and NYN domain containing |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
|
|
G |
Klhdc1 |
kelch domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424
|
|
G |
Klhdc2 |
kelch domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187
|
|
G |
Klhl28 |
kelch-like family member 28 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
|
|
G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
|
|
G |
LOC103693823 |
epididymal secretory protein E3-beta-like |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
|
|
G |
Lrfn5 |
leucine rich repeat and fibronectin type III domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815
|
|
G |
Lrp10 |
LDL receptor related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,921,105...27,927,507
Ensembl chr15:27,920,259...27,927,505
|
|
G |
Lrr1 |
leucine rich repeat protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
|
|
G |
Ltb4r |
leukotriene B4 receptor |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,263,126...29,265,716
|
|
G |
Ltb4r2 |
leukotriene B4 receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,258,427...29,260,340
Ensembl chr15:29,259,240...29,260,316
|
|
G |
Mbip |
MAP3K12 binding inhibitory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374
|
|
G |
Mdga2 |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126
|
|
G |
Mdp1 |
magnesium-dependent phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,148,994...29,153,091
Ensembl chr15:29,148,994...29,151,905
|
|
G |
Mettl17 |
methyltransferase like 17 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
|
|
G |
Mettl3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
|
|
G |
Mgat2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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G |
Mia2 |
MIA SH3 domain ER export factor 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211
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G |
Mipol1 |
mirror-image polydactyly 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:74,755,314...75,090,403
Ensembl chr 6:74,755,395...75,086,811
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G |
Mir208a |
microRNA 208a |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,425,570...28,425,652
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G |
Mir208b |
microRNA 208b |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
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G |
Mis18bp1 |
MIS18 binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383
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G |
Mmp14 |
matrix metallopeptidase 14 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mrpl52 |
mitochondrial ribosomal protein L52 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
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G |
Myh6 |
myosin heavy chain 6 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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G |
Ndrg2 |
NDRG family member 2 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
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G |
Nedd8 |
NEDD8 ubiquitin like modifier |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
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G |
Nemf |
nuclear export mediator factor |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841
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G |
Nfatc4 |
nuclear factor of activated T-cells 4 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
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G |
Nfkbia |
NFKB inhibitor alpha |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Ngdn |
neuroguidin |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
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G |
Nkx2-1 |
NK2 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome DNA:missense mutation exon:p.L224R (c.671T>G) (human) DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human) DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human) DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:18788921 PMID:19176457 PMID:19336474 PMID:22825795 PMID:22832740 PMID:23379327 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30746413 PMID:26839702 PMID:18788921 PMID:23379327 PMID:23911641 More...
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RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 |
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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G |
Nkx2-8 |
NK2 homeobox 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977
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G |
Nop9 |
NOP9 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
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G |
Nova1 |
NOVA alternative splicing regulator 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:63,780,105...63,905,950
Ensembl chr 6:63,783,489...63,906,289
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G |
Npas3 |
neuronal PAS domain protein 3 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884
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G |
Nrl |
neural retina leucine zipper |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
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G |
Nubpl |
NUBP iron-sulfur cluster assembly factor like |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
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G |
Nynrin |
NYN domain and retroviral integrase containing |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
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G |
Or10g1b |
olfactory receptor family 10 subfamily G member 1B |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188
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G |
Or10g3 |
olfactory receptor family 10 subfamily G member 3 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615
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G |
Or4e2 |
olfactory receptor family 4 subfamily E member 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297
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G |
Or5au1 |
olfactory receptor family 5 subfamily AU member 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
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G |
Oxa1l |
OXA1L, mitochondrial inner membrane protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
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G |
Pabpn1 |
poly(A) binding protein, nuclear 1 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
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G |
Pax9 |
paired box 9 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
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G |
Pck2 |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
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G |
Pnn |
pinin, desmosome associated protein |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
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G |
Pole2 |
DNA polymerase epsilon 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
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G |
Ppp1r3e |
protein phosphatase 1, regulatory subunit 3E |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
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G |
Ppp2r3c |
protein phosphatase 2, regulatory subunit B'', gamma |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
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G |
Prkd1 |
protein kinase D1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
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G |
Prmt5 |
protein arginine methyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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G |
Prorp |
protein only RNase P catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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G |
Prpf39 |
pre-mRNA processing factor 39 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
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G |
Psma6 |
proteasome 20S subunit alpha 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
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G |
Psmb11 |
proteasome subunit beta 11 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,081,148...28,087,326
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G |
Psmb5 |
proteasome 20S subunit beta 5 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
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G |
Psme1 |
proteasome activator subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
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G |
Psme2 |
proteasome activator subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
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G |
Rab2b |
RAB2B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
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G |
Rabggta |
Rab geranylgeranyltransferase subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
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G |
Ralgapa1 |
Ral GTPase activating protein catalytic subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
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G |
Rec8 |
REC8 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
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G |
Rem2 |
RRAD and GEM like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
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G |
RGD1307621 |
hypothetical LOC314168 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
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G |
RGD1565222 |
similar to RIKEN cDNA 4931414P19 |
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ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
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G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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G |
Rn7sl1 |
RNA component of signal recognition particle 7SL1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
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G |
Rnase1 |
ribonuclease A family member 1, pancreatic |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,361,924...24,363,658
Ensembl chr15:24,361,927...24,363,624
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G |
Rnase13 |
ribonuclease A family member 13 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
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G |
Rnase2 |
ribonuclease A family member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
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G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
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G |
Rnase4 |
ribonuclease A family member 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
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G |
Rnase6 |
ribonuclease A family member k6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
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G |
Rnf212b |
ring finger protein 212B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
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G |
Rnf31 |
ring finger protein 31 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
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G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G |
Rpl10l1 |
ribosomal protein L10 like 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
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G |
Rpl36al1 |
ribosomal protein L36A like 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,654,808...87,656,202
Ensembl chr X:97,766,179...97,768,892 Ensembl chr10:97,766,179...97,768,892
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G |
Rps29 |
ribosomal protein S29 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:87,635,229...87,636,605
Ensembl chr 6:87,635,230...87,636,636
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G |
Sall2 |
spalt-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
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G |
Scfd1 |
sec1 family domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
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G |
Sdr39u1 |
short chain dehydrogenase/reductase family 39U, member 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,378,026...29,381,075
Ensembl chr15:29,378,026...29,381,560
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G |
Sec23a |
Sec23 homolog A, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
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G |
Slc22a17 |
solute carrier family 22, member 17 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
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G |
Slc25a21 |
solute carrier family 25 member 21 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
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G |
Slc39a2 |
solute carrier family 39 member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
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G |
Slc7a7 |
solute carrier family 7 member 7 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
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G |
Slc7a8 |
solute carrier family 7 member 8 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
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G |
Snx6 |
sorting nexin 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911
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|
G |
Sos2 |
SOS Ras/Rho guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
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|
G |
Sptssa |
serine palmitoyltransferase, small subunit A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
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G |
Srp54a |
signal recognition particle 54A |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
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G |
Sstr1 |
somatostatin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
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G |
Strn3 |
striatin 3 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
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G |
Stxbp6 |
syntaxin binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024
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G |
Supt16h |
SPT16 homolog, facilitates chromatin remodeling subunit |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
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G |
Tgm1 |
transglutaminase 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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G |
Thtpa |
thiamine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
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G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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G |
Tm9sf1 |
transmembrane 9 superfamily member 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,127,585...29,135,349
Ensembl chr15:29,127,584...29,135,349
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G |
Tmem253 |
transmembrane protein 253 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
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G |
Togaram1 |
TOG array regulator of axonemal microtubules 1 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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G |
Tox4 |
TOX high mobility group box family member 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
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G |
Tppp2 |
tubulin polymerization-promoting protein family member 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
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G |
Trappc6b |
trafficking protein particle complex subunit 6B |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
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G |
Tssk4 |
testis-specific serine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
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G |
Ttc6 |
tetratricopeptide repeat domain 6 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
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G |
Vcpkmt |
valosin containing protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
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G |
Zfhx2 |
zinc finger homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
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|
G |
Zfp219 |
zinc finger protein 219 |
|
ISO |
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
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G |
Bax |
BCL2 associated X, apoptosis regulator |
|
IEP |
|
RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bid |
BH3 interacting domain death agonist |
|
IEP |
|
RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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G |
Casp3 |
caspase 3 |
|
IEP |
|
RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp8 |
caspase 8 |
|
IEP |
|
RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Casp9 |
caspase 9 |
|
IEP |
|
RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Cat |
catalase |
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IDA |
|
RGD |
PMID:19693467 |
RGD:5130750 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
ISO |
|
RGD |
PMID:16888287 |
RGD:5130981 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Cd209c |
CD209c molecule |
|
ISO |
|
RGD |
PMID:20050784 |
RGD:5131185 |
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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G |
Cd209d |
CD209d molecule |
|
ISO |
|
RGD |
PMID:20050784 |
RGD:5131185 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
protein:decreased secretion:lung, secretion (human) |
RGD |
PMID:20558631 |
RGD:4892651 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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|
G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:19951473 |
RGD:5134972 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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|
G |
Dag1 |
dystroglycan 1 |
|
ISO |
DNA:SNP: :p.N494H (human) |
RGD |
PMID:17196572 |
RGD:11537474 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Edn1 |
endothelin 1 |
|
IEP |
protein:increased expression:lung (rat) |
RGD |
PMID:20647310 |
RGD:4144841 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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|
G |
Epas1 |
endothelial PAS domain protein 1 |
treatment |
IEP |
|
RGD |
PMID:23065129 |
RGD:10395385 |
NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
|
RGD |
PMID:22003089 |
RGD:10402122 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:: (human) |
RGD |
PMID:24120392 |
RGD:12792215 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (human) |
RGD |
PMID:14726935 |
RGD:4142520 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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|
G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:: (human) |
RGD |
PMID:24120392 |
RGD:12792215 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H19 |
H19 imprinted maternally expressed transcript |
ameliorates |
ISO |
|
RGD |
PMID:33285606 |
RGD:242905194 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
IEP |
|
RGD |
PMID:23065129 PMID:26431790 |
RGD:10395385, RGD:11537057 |
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Il1b |
interleukin 1 beta |
|
ISO |
protein:increased expression:lung CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16813970 PMID:15539764 |
RGD:4143172 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
susceptibility |
ISO |
protein:increased expression:lung associated with Premature Birth;DNA:polymorphism:: |
RGD |
PMID:15539764 PMID:22882323 |
RGD:4143172, RGD:12910846 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Itga3 |
integrin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Bronchopulmonary dysplasia |
ClinVar |
PMID:25741868 |
|
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
associated with Premature Birth;DNA:polymorphism:exon: |
RGD |
PMID:22882323 |
RGD:12910846 |
NCBI chr 1:228,016,439...228,024,736
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G |
Mif |
macrophage migration inhibitory factor |
|
ISO |
associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung |
RGD |
PMID:18097062 |
RGD:4891007 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:19097983 |
RGD:5129685 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Muc1 |
mucin 1, cell surface associated |
severity |
ISO |
protein:increased expression:cord plasma |
RGD |
PMID:18025794 |
RGD:5131170 |
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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|
G |
Nfkbia |
NFKB inhibitor alpha |
exacerbates |
ISO |
DNA:SNPs:promoter: (rs2233406, rs2233409) (human) |
RGD |
PMID:23487427 |
RGD:40902982 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Postn |
periostin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363622 |
|
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
|
ISO |
|
RGD |
PMID:11435254 |
RGD:5144211 |
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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|
G |
Serpine1 |
serpin family E member 1 |
|
ISO |
associated with Premature Birth;protein:increased expression:blood: |
RGD |
PMID:25140773 |
RGD:13208551 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Sftpa1 |
surfactant protein A1 |
susceptibility |
ISO |
DNA:snps, haplotypes:multiple (human) DNA:polymorphisms, haplotype: (human) |
RGD |
PMID:17264398 PMID:11105614 |
RGD:4143384, RGD:4144876 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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G |
Sftpb |
surfactant protein B |
susceptibility |
ISO |
DNA:deletion:intron (human) DNA:SNPs:5'UTR,exon: DNA:polymorphism:intron (human) |
RGD |
PMID:15102713 PMID:26045806 PMID:17264398 PMID:12424586 |
RGD:4143405, RGD:11085373, RGD:4143384, RGD:4143418 |
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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G |
Sftpd |
surfactant protein D |
|
ISO |
|
RGD |
PMID:17264398 |
RGD:4143384 |
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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|
G |
Tnf |
tumor necrosis factor |
severity no_association |
ISO |
DNA:SNP:promoter:-238A>G (human) DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:15286263 PMID:15286263 |
RGD:12904049, RGD:12904049 |
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 |
|
IEP |
|
RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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|
G |
Txn1 |
thioredoxin 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20812253 |
|
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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G |
Vdr |
vitamin D receptor |
susceptibility |
ISO |
associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) |
RGD |
PMID:24796371 |
RGD:13432055 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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|
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G |
Krt2 |
keratin 2 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens |
OMIM ClinVar |
PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:9204966 PMID:9804344 PMID:10233323 PMID:10620137 PMID:11531804 PMID:25741868 PMID:28492532 More...
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|
NCBI chr 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
|
|
|
G |
Atl2 |
atlastin GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
|
NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421
|
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset DNA:missense mutation:cds:p.A388T (human) DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human) DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human) DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human) DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human) DNA:deletion, snp:exons:g.4339delG, p.G61E (human) DNA:snp:cds:p.E387K (human) DNA:polymorphisms:multiple (human) |
OMIM ClinVar RGD |
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30662834 PMID:30788381 PMID:31024815 PMID:31251480 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:32883240 PMID:34956319 PMID:94927261 PMID:16490498 PMID:19247456 PMID:12567107 PMID:19597567 PMID:19593207 PMID:20664688 PMID:10227395 PMID:23922489 PMID:12624268 More...
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RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 |
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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G |
Foxc1 |
forkhead box C1 |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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G |
Galm |
galactose mutarotase |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310
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G |
Hnrnpll |
heterogeneous nuclear ribonucleoprotein L-like |
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ISO |
ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 |
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NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745
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G |
Ltbp2 |
latent transforming growth factor beta binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
PMID:19656777 |
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NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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G |
Myoc |
myocilin |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic |
ClinVar |
PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:16466712 PMID:17563717 PMID:22194650 PMID:22736945 PMID:25741868 PMID:28492532 PMID:35196929 More...
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NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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G |
Tyr |
tyrosinase |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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G |
A4galt |
alpha 1,4-galactosyltransferase (P blood group) |
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ISO |
ClinVar Annotator: match by term: Infantile cortical hyperostosis |
ClinVar |
PMID:20971946 |
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NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
DNA:mutation:exon:3040C>T (human) ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis DNA:missense mutation:exon:c.3040C>T(p.R836C)(human) |
ClinVar OMIM RGD |
PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16474405 PMID:16773572 PMID:16786509 PMID:16879195 PMID:17056636 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23443412 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27011056 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:17309652 PMID:15864348 More...
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RGD:5688296, RGD:11667069 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences |
ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
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NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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G |
Mymk |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 |
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NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
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G |
Mymx |
myomixer, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 |
OMIM ClinVar |
PMID:35642635 |
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NCBI chr 9:15,396,638...15,398,264
Ensembl chr 9:15,397,144...15,398,263
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G |
Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 |
ClinVar |
PMID:35642635 |
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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 |
Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal |
ClinVar OMIM |
PMID:736528 PMID:835844 PMID:1528846 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10862092 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20810031 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22652984 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27525900 PMID:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:31372341 PMID:32295037 PMID:32528171 PMID:33123633 PMID:33532864 PMID:34063237 More...
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NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
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G |
Abcg4 |
ATP binding cassette subfamily G member 4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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G |
Apoa1 |
apolipoprotein A1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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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 |
Apoa4 |
apolipoprotein A4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Apoc3 |
apolipoprotein C3 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Arcn1 |
archain 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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G |
Arhgef12 |
Rho guanine nucleotide exchange factor 12 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
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G |
Atp5mg |
ATP synthase membrane subunit G |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
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G |
Bace1 |
beta-secretase 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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G |
Bcl9l |
BCL9 like |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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G |
C1qtnf5 |
C1q and TNF related 5 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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G |
C2cd2l |
C2CD2-like |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
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G |
Cbl |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Ccdc153 |
coiled-coil domain containing 153 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
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G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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G |
Cd3e |
CD3 epsilon subunit of T-cell receptor complex |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
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G |
Cd3g |
CD3 gamma subunit of T-cell receptor complex |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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G |
Cenatac |
centrosomal AT-AC splicing factor |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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G |
Cep164 |
centrosomal protein 164 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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G |
Ddx6 |
DEAD-box helicase 6 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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G |
Dscaml1 |
DS cell adhesion molecule-like 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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G |
Foxr1 |
forkhead box R1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
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G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
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G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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G |
Grik4 |
glutamate ionotropic receptor kainate type subunit 4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
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G |
H2ax |
H2A.X variant histone |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
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G |
Hinfp |
histone H4 transcription factor |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
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Hmbs |
hydroxymethylbilane synthase |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hyou1 |
hypoxia up-regulated 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Ift46 |
intraflagellar transport 46 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
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Il10ra |
interleukin 10 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Jaml |
junction adhesion molecule like |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
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Kmt2a |
lysine methyltransferase 2A |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Mcam |
melanoma cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Mfrp |
membrane frizzled-related protein |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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Mpzl2 |
myelin protein zero-like 2 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
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Mpzl3 |
myelin protein zero-like 3 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
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Nectin1 |
nectin cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Nherf4 |
NHERF family PDZ scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
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Nlrx1 |
NLR family member X1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
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Oaf |
out at first homolog |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
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Pafah1b2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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Pou2f3 |
POU class 2 homeobox 3 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
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Rnf214 |
ring finger protein 214 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
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Rnf26 |
ring finger protein 26 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
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Rps25 |
ribosomal protein s25 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
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Sc5d |
sterol-C5-desaturase |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
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Scn2b |
sodium voltage-gated channel beta subunit 2 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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Scn4b |
sodium voltage-gated channel beta subunit 4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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Sidt2 |
SID1 transmembrane family, member 2 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sik3 |
SIK family kinase 3 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Slc37a4 |
solute carrier family 37 member 4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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Sorl1 |
sortilin related receptor 1 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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Tagln |
transgelin |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tbcel |
tubulin folding cofactor E-like |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
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Tecta |
tectorin alpha |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Thy1 |
Thy-1 cell surface antigen |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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Tlcd5 |
TLC domain containing 5 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
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Tmem25 |
transmembrane protein 25 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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Tmprss13 |
transmembrane serine protease 13 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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Tmprss4 |
transmembrane serine protease 4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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Trappc4 |
trafficking protein particle complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Treh |
trehalase |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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Trim29 |
tripartite motif-containing 29 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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Ttc36 |
tetratricopeptide repeat domain 36 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,112,737...45,116,345
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Ube4a |
ubiquitination factor E4A |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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Upk2 |
uroplakin 2 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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Usp2 |
ubiquitin specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
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ISO |
ClinVar Annotator: match by term: CD3epsilon deficiency |
ClinVar |
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
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NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT | ClinVar Annotator: match by term: Lymphatic malformation 7 |
OMIM ClinVar |
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 PMID:30578106 PMID:32267001 PMID:33240318 More...
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Mdfic |
MyoD family inhibitor domain containing |
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ISS |
OMIM:617300 |
MouseDO |
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NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Slc12a9 |
solute carrier family 12, member 9 |
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ISO |
ClinVar Annotator: match by term: Lymphatic malformation 7 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Child syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 PMID:18414213 PMID:18825599 PMID:19906044 PMID:21290788 PMID:25093865 PMID:25526675 PMID:25741868 PMID:26459993 PMID:28492532 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
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ISO |
DNA:missense mutation:CDS:c.500T>C (p.L167P) (human) ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome |
OMIM ClinVar RGD |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 PMID:29473937 PMID:30023290 PMID:31535386 PMID:22444671 More...
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RGD:243048422 |
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Chitayat syndrome |
OMIM ClinVar |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:30569521 PMID:30728880 PMID:32592542 More...
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Abcc8 |
ATP binding cassette subfamily C member 8 |
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ISO |
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:mutations:exon:multiple DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human) DNA:mutations:exon, intron:multiple DNA:deletion: :p.S1387del (human) CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9536098 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10194514 PMID:10334322 PMID:10338089 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11692183 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15807877 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20943781 PMID:21199866 PMID:21321069 PMID:21378087 PMID:21716120 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21989597 PMID:21992908 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22591706 PMID:22704848 PMID:22802590 PMID:22855730 PMID:23067144 PMID:23261959 PMID:23275527 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:24145932 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24937539 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25639667 PMID:25741868 PMID:25781672 PMID:25931474 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:26740944 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27908292 PMID:28270372 PMID:28439221 PMID:28442472 PMID:28492532 PMID:29082728 PMID:29893194 PMID:30114684 PMID:30186238 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30462810 PMID:30487145 PMID:31218401 PMID:31464105 PMID:32027066 PMID:32670376 PMID:32792356 PMID:33046911 PMID:33240318 PMID:33410562 PMID:33587123 PMID:34566892 PMID:34764980 PMID:7716548 PMID:23506826 PMID:23652837 PMID:20573158 PMID:16429405 PMID:24401662 PMID:21422196 PMID:18596924 More...
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RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 |
NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
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G |
Gck |
glucokinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15277402 |
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NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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G |
Glud1 |
glutamate dehydrogenase 1 |
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ISO |
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RGD |
PMID:9571255 |
RGD:1302513 |
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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G |
Hadh |
hydroxyacyl-CoA dehydrogenase |
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ISO |
DNA:deletion:cds (human) |
RGD |
PMID:14693719 |
RGD:2306664 |
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
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G |
Hnf4a |
hepatocyte nuclear factor 4, alpha |
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ISO |
DNA:mutations: : ClinVar Annotator: match by term: Familial hyperinsulinism |
ClinVar RGD |
PMID:10227563 PMID:10447526 PMID:10768098 PMID:10983627 PMID:12669197 PMID:15281001 PMID:15793260 PMID:15928245 PMID:16883527 PMID:16946562 PMID:17563455 PMID:18268044 PMID:18414213 PMID:20164212 PMID:21105491 PMID:22140441 PMID:22232426 PMID:23227446 PMID:23247789 PMID:24033266 PMID:24097065 PMID:24476040 PMID:25041077 PMID:25631608 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26740944 PMID:26981542 PMID:27080136 PMID:27420379 PMID:27884173 PMID:28492532 PMID:29207974 PMID:29355436 PMID:29792621 PMID:30191603 PMID:31264968 PMID:31595705 PMID:32583173 PMID:34805411 PMID:35052457 PMID:35118593 PMID:20164212 More...
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RGD:12904701 |
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:SNPs:exon:c.151G>T, c.1017G>T (human) DNA:missense mutations, frameshift mutations:CDS:multiple DNA:deletion, frameshift mutation, missense mutations:exon:multiple DNA:deletion, insertion:exon DNA:missense mutation:exon:p.R34H (c.101G>A) (human) |
CTD ClinVar RGD |
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 PMID:29893194 PMID:32935446 PMID:23506826 PMID:23652837 PMID:24401662 PMID:17316607 PMID:24421282 More...
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RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 |
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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G |
Kcnt2 |
potassium sodium-activated channel subfamily T member 2 |
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ISO |
ClinVar Annotator: match by term: KCNT2-related condition |
ClinVar |
PMID:25741868 PMID:29069600 |
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NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
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ISO |
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RGD |
PMID:19470471 |
RGD:7248544 |
NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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G |
Ucp2 |
uncoupling protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial hyperinsulinism |
ClinVar |
PMID:25741868 |
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NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS |
ClinVar |
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9651581 PMID:15982307 PMID:19931493 PMID:20944642 PMID:22234153 PMID:23039039 PMID:23221806 PMID:23232694 PMID:24033266 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26884178 PMID:27504877 PMID:28492532 PMID:29607586 PMID:31282071 PMID:31803976 More...
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NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ahr |
aryl hydrocarbon receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23301081 |
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NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Atf6 |
activating transcription factor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26029869 |
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NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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G |
Myo7a |
myosin VIIA |
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ISO |
associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) |
RGD |
PMID:21901789 |
RGD:11537385 |
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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G |
Pax6 |
paired box 6 |
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ISO |
DNA:snp:intron:IVS4+5G>C (human) |
RGD |
PMID:15629294 |
RGD:8552281 |
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Robo1 |
roundabout guidance receptor 1 |
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ISO |
ClinVar Annotator: match by term: Congenital nystagmus |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
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G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32971638 |
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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G |
Frmd7 |
FERM domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:25678693 PMID:25741868 PMID:25916882 PMID:27081518 PMID:28492532 PMID:30025138 PMID:30942644 More...
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NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
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G |
Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked |
OMIM ClinVar |
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
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NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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G |
Robo1 |
roundabout guidance receptor 1 |
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ISO |
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OMIM |
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NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
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G |
RT1-Ba |
RT1 class II, locus Ba |
susceptibility |
ISO |
DNA:polymorphisms: :HLA-DQA1*01:03, HLA-DQA1*03:02 (human) |
RGD |
PMID:26856406 |
RGD:126928144 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:25073507 PMID:28492532 |
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NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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G |
Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
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G |
Bola2 |
bolA family member 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:181,291,777...181,292,836
Ensembl chr 1:181,291,398...181,292,676
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G |
C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,434,524...181,441,000
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G |
Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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G |
Coro1a |
coronin 1A |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:23522482 PMID:24033266 PMID:24372385 PMID:24811917 PMID:25073507 PMID:25666293 PMID:25741868 PMID:27577878 PMID:28492532 PMID:30899265 More...
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NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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G |
Doc2a |
double C2 domain alpha |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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G |
Hirip3 |
HIRA interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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G |
Ino80e |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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G |
Kctd13 |
potassium channel tetramerization domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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G |
Kif22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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G |
Lrba |
LPS responsive beige-like anchor protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:16199547 PMID:25741868 PMID:26206937 PMID:26768763 PMID:28492532 |
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NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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G |
Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Maz |
MYC associated zinc finger protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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G |
Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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G |
Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,622,708...181,624,996
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G |
Ppp4c |
protein phosphatase 4, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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G |
Rhoh |
ras homolog family member H |
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ISO |
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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G |
Sez6l2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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G |
Slx1b |
SLX1 homolog B, structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION |
ClinVar |
PMID:28492532 |
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NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775
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G |
Taok2 |
TAO kinase 2 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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G |
Tbx6 |
T-box transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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Tlcd3b |
TLC domain containing 3B |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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Tmem219 |
transmembrane protein 219 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
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NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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Ypel3 |
yippee-like 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
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NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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Adrb1 |
adrenoceptor beta 1 |
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ISO |
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RGD |
PMID:20203292 |
RGD:5129107 |
NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
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Adrb2 |
adrenoceptor beta 2 |
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ISO |
DNA:polymorphisms (human) |
RGD |
PMID:20203292 PMID:17502834 |
RGD:5129107, RGD:4145099 |
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Adrb3 |
adrenoceptor beta 3 |
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ISO |
protein:increased expression:bronchus |
RGD |
PMID:20203292 |
RGD:5129107 |
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Ager |
advanced glycosylation end product-specific receptor |
severity |
ISO |
DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human) |
RGD |
PMID:21993476 PMID:24127697 |
RGD:6767553, RGD:8695959 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Akp3 |
alkaline phosphatase 3, intestine, not Mn requiring |
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ISO |
mRNA,protein:decreased expression:intestine: |
RGD |
PMID:21970994 |
RGD:14349050 |
NCBI chr 9:87,804,749...87,807,866
Ensembl chr 9:87,804,749...87,807,913
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Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:16622660 |
RGD:6483578 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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C5 |
complement C5 |
severity |
ISO |
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RGD |
PMID:3540828 |
RGD:5130162 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
protein:increased expression:paranasal sinus |
RGD |
PMID:17999785 |
RGD:4145455 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
mRNA, protein:increased expression:neutrophil |
RGD |
PMID:18026571 |
RGD:4145491 |
NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20438838 |
RGD:4143275 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
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RGD |
PMID:20575639 PMID:19386685 |
RGD:5130907, RGD:5130902 |
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19017998 |
RGD:4145632 |
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cd14 |
CD14 molecule |
susceptibility |
ISO |
protein:increased expression:Macrophages, Alveolar DNA:polymorphism:promoter:c. -159 C>T |
RGD |
PMID:20302606 PMID:19466271 |
RGD:4144794, RGD:4144796 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:blood |
RGD |
PMID:15102009 |
RGD:7248443 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cftr |
CF transmembrane conductance regulator |
severity no_association disease_progression |
ISO IMP |
DNA:missense mutation:exon:p.W1282X(human) ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis CTD Direct Evidence: marker/mechanism DNA,protein:mutations,substitutions:exon: DNA:mutation:exon:p.R117H(human) DNA:nonsense mutation:cds;c. 2143delT (human) DNA:mutation:cds:p.G551D (mouse) DNA:insertion:exon:c.3904_3905insT (human) DNA:mutations:multiple DNA:mutation: :p.N1303K (human) DNA:splice-site mutation:intron: 3272-26A>G (human) DNA:mutations: : DNA:deletion:exon:p.F508del(mouse) DNA:missense mutations: :p.F508C, S1251N DNA:missende mutation:exon:p.G551D (human) protein:altered expression:lung |
ClinVar CTD OMIM RGD |
PMID:754013 PMID:1282900 PMID:1283148 PMID:1283149 PMID:1283151 PMID:1284466 PMID:1284468 PMID:1284471 PMID:1284477 PMID:1284478 PMID:1284529 PMID:1284530 PMID:1284531 PMID:1284534 PMID:1284535 PMID:1284537 PMID:1284538 PMID:1284539 PMID:1284540 PMID:1284541 PMID:1284542 PMID:1284627 PMID:1284639 PMID:1284889 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1372093 PMID:1373934 PMID:1373935 PMID:1374052 PMID:1376016 PMID:1376017 PMID:1377276 PMID:1379210 PMID:1379211 PMID:1379413 PMID:1380673 PMID:1380689 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384326 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1712984 PMID:1715308 PMID:1716180 PMID:1718974 PMID:1721624 PMID:1722350 PMID:1723032 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1867536 PMID:1903761 PMID:1937486 PMID:1944451 PMID:1977306 PMID:1990834 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2395135 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:2915972 PMID:3716676 PMID:5371902 PMID:6963320 PMID:7472820 PMID:7475569 PMID:7477025 PMID:7493947 PMID:7504969 PMID:7504970 PMID:7505689 PMID:7505690 PMID:7505693 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7506605 PMID:7508183 PMID:7508414 PMID:7509231 PMID:7509310 PMID:7509683 PMID:7509684 PMID:7509685 PMID:7512860 PMID:7512993 PMID:7513292 PMID:7513293 PMID:7513294 PMID:7513889 PMID:7515303 PMID:7516232 PMID:7516233 PMID:7516234 PMID:7516305 PMID:7517264 PMID:7517267 PMID:7517268 PMID:7518409 PMID:7518829 PMID:7519167 PMID:7520022 PMID:7520798 PMID:7520799 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 | |