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 |
| primary_id: | MESH:D007232; RDO:0004815 |
For additional species annotation, visit the
Alliance of Genome Resources.
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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 chr20:7,976,704...8,097,290
Ensembl chr20:7,976,713...8,019,020
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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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Ada |
adenosine deaminase |
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ISO |
ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET ClinVar Annotator: match by OMIM:102700 ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset |
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:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16276484 PMID:16825284 PMID:17181544 PMID:17185467 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:24033266 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28492532 PMID:29744787 PMID:30290665 PMID:30858051 PMID:31319225 |
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NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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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:22857948 PMID:23233322 PMID:23283745 PMID:24033266 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:28615295 PMID:28790153 |
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NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Bubble boy disease |
ClinVar |
PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:26476733 PMID:26596586 PMID:28492532 PMID:30290665 |
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NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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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 chr18:25,037,668...25,068,380
Ensembl chr18:25,037,625...25,068,389
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Gstm1 |
glutathione S-transferase mu 1 |
severity |
ISO |
DNA:deletion, haplotype:: (human) |
RGD |
PMID:21058530 |
RGD:12792218 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Htra2 |
HtrA serine peptidase 2 |
treatment |
IEP |
protein:increased expression:kidney: |
RGD |
PMID:20704803 |
RGD:10402931 |
NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
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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 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
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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 3:113,376,983...113,400,707
Ensembl chr 3:113,376,983...113,400,707
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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 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
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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 chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
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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 chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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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 chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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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 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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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 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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Lrp1 |
LDL receptor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Vermiculata atrophoderma |
ClinVar |
PMID:26142438 |
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NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
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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, autosomal dominant ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant ClinVar Annotator: match by term: Keratitis, Ichthyosis, and Deafness (KID) Syndrome ClinVar Annotator: match by OMIM:148210 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 |
PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 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:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12072059 PMID:12081719 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12384501 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12865758 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14520102 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15769851 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16532460 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17018967 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:17444514 PMID:17485979 PMID:17553572 PMID:17581693 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18294064 PMID:18414213 PMID:18560174 PMID:18570691 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:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19586875 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19723508 PMID:19814620 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20096468 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20412116 PMID:20497192 PMID:20563649 PMID:20650534 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20981092 PMID:21056478 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21287563 PMID:21292415 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21728791 PMID:21776002 PMID:21811586 PMID:21815880 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22106692 PMID:22281373 PMID:22429511 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23141775 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24033266 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24346070 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26381000 PMID:26399936 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26542351 PMID:26553399 PMID:26681637 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27057829 PMID:27087580 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27623246 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843504 PMID:27884957 PMID:28000701 PMID:28271504 PMID:28489599 PMID:28492532 PMID:29106882 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:32090102 PMID:115556849 PMID:163800907, PMID:20926451, PMID:23924173, PMID:22031297, PMID:18950394, PMID:20307501 |
RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 |
NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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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 |
PMID:15756637 PMID:17508018 PMID:19262603 PMID:20849526 PMID:25741868 PMID:28492532 |
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NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma |
ClinVar |
PMID:16116617 PMID:18347291 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 |
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NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
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Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis |
ClinVar |
PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 PMID:25998749 PMID:26370990 PMID:26762237 PMID:27025581 |
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NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
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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 |
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NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
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Ebp |
EBP, cholestenol delta-isomerase |
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ISO |
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RGD |
PMID:12668600 |
RGD:2316868 |
NCBI chr X:15,049,394...15,055,782
Ensembl chr X:15,049,462...15,055,781
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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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Nipal4 |
NIPA-like domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma |
ClinVar |
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NCBI chr10:31,241,394...31,258,105
Ensembl chr10:31,241,394...31,258,105
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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:152,933,118...152,964,399
Ensembl chr X:152,933,069...152,964,390
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Pnpla1 |
patatin-like phospholipase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma |
ClinVar |
PMID:3757302 PMID:24344921 PMID:28369476 PMID:28403545 |
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NCBI chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
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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 |
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NCBI chr 7:71,152,366...71,169,510
Ensembl chr 7:71,157,664...71,170,511
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Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma ClinVar Annotator: match by term: Lamellar ichthyosis |
ClinVar |
PMID:7581379 PMID:11407995 PMID:11511296 PMID:16968736 PMID:19212342 PMID:19262603 PMID:19863506 PMID:19890349 PMID:20167857 PMID:21895619 PMID:22801880 PMID:23895935 PMID:24033266 PMID:24419105 PMID:25741868 PMID:26076875 PMID:26762237 PMID:27025581 PMID:28403434 PMID:28492532 |
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NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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Abca12 |
ATP binding cassette subfamily A member 12 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16675967, PMID:12915478 |
RGD:1598548 |
NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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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 8:130,973,222...131,001,448
Ensembl chr 8:130,973,201...131,001,458
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Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21739938 |
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NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
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Aloxe3 |
arachidonate lipoxygenase 3 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21739938, PMID:11773004 |
RGD:1599073 |
NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
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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 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
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Tgm1 |
transglutaminase 1 |
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ISO |
ClinVar Annotator: match by term: Lamellar ichthyosis, type 1 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING ClinVar Annotator: match by OMIM:242300 ClinVar Annotator: match by term: Lamellar ichthyosis, UMLS MESH term: Lamellar Ichthyose |
ClinVar OMIM |
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10232404 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: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: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:28492532 PMID:30600594 PMID:30950025, PMID:7824952 |
RGD:1599417 |
NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
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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:21199492 PMID:22211879 PMID:28492532 |
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NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
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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 10 ClinVar Annotator: match by OMIM:615024 |
OMIM ClinVar |
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 PMID:25741868 PMID:26424960 PMID:26691440 PMID:27884173 PMID:28369476 PMID:28403545 PMID:28492532 |
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NCBI chr20:6,101,061...6,143,762
Ensembl chr20:6,102,277...6,143,707
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St14 |
ST14 transmembrane serine protease matriptase |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 11 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 PMID:29611532 |
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NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
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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:27494380 PMID:28492532 |
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NCBI chr 7:13,938,376...13,944,286
Ensembl chr 7:13,938,302...13,945,130
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Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
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ISO |
ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 |
ClinVar OMIM |
PMID:25741868 PMID:28173123 PMID:28369735 |
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NCBI chr 7:71,152,366...71,169,510
Ensembl chr 7:71,157,664...71,170,511
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Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 |
ClinVar OMIM |
PMID:17496163 PMID:25741868 PMID:28575648 |
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NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
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Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Nonbullous congenital ichthyosiform erythroderma 1 ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar Annotator: match by OMIM:242100 |
OMIM ClinVar |
PMID:11773004 PMID:16116617 PMID:17139268 PMID:18347291 PMID:18414213 PMID:19131948 PMID:19890349 PMID:20222929 PMID:24033266 PMID:25741868 PMID:26762237 PMID:28492532 |
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NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
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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:25741868 |
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NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
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Sult2b1 |
sulfotransferase family 2B member 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 ClinVar Annotator: match by term: COLLODION BABY, SELF-HEALING |
ClinVar |
PMID:17496163 PMID:28575648 |
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NCBI chr 1:101,712,254...101,774,683
Ensembl chr 1:101,710,959...101,773,508
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Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 ClinVar Annotator: match by OMIM:606545 |
OMIM ClinVar |
PMID:11398099 PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26370990 PMID:26762237 PMID:27025581 PMID:28492532 |
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NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
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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 chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
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Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A ClinVar Annotator: match by OMIM:601277 |
OMIM ClinVar |
PMID:8845852 PMID:10094194 PMID:12915478 PMID:19664001 PMID:25741868 |
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NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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Abca12 |
ATP binding cassette subfamily A member 12 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis congenita, Harlequin fetus type ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B ClinVar Annotator: match by OMIM:242500 |
OMIM ClinVar |
PMID:15756637 PMID:16902423 PMID:19664001 PMID:25741868 |
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NCBI chr 9:78,521,477...78,693,421
Ensembl chr 9:78,522,464...78,693,028
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Cst6 |
cystatin E/M |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
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Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr X:31,786,823...31,799,751
Ensembl chr X:31,786,194...31,799,560
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Prss8 |
serine protease 8 |
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ISS |
OMIM:242500 |
MouseDO |
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NCBI chr 1:199,372,519...199,377,035
Ensembl chr 1:199,372,519...199,377,035
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Cyp4f39 |
cytochrome P450, family 4, subfamily f, polypeptide 39 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 ClinVar Annotator: match by term: Lamellar ichthyosis, type 3 |
OMIM ClinVar |
PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25998749 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:33223529 |
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NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
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Nipal4 |
NIPA-like domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 ClinVar Annotator: match by OMIM:612281 |
OMIM ClinVar |
PMID:15317751 PMID:17557927 PMID:20016120 PMID:20301593 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:28492532 |
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NCBI chr10:31,241,394...31,258,105
Ensembl chr10:31,241,394...31,258,105
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Lipn |
lipase, family member N |
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ISO |
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OMIM |
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NCBI chr 1:252,375,941...252,394,226
Ensembl chr 1:252,375,933...252,396,460
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Cers3 |
ceramide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 ClinVar Annotator: match by OMIM:615023 |
OMIM ClinVar |
PMID:23549421 PMID:23754960 PMID:25741868 |
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NCBI chr 1:127,706,618...127,781,041
Ensembl chr 1:127,648,234...127,781,017
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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 |
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NCBI chr11:71,348,726...71,388,520
Ensembl chr11:71,348,717...71,387,992
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Foxc1 |
forkhead box C1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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Hmgn2 |
high mobility group nucleosomal binding domain 2 |
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ISS |
OMIM:180500 |
MouseDO |
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NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
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Pax6 |
paired box 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14630904 |
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NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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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 ClinVar Annotator: match by OMIM:180500 |
OMIM ClinVar CTD |
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 |
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NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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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 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
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Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 2 ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:9579893 PMID:11179027 PMID:12953268 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22895590 PMID:22985072 PMID:23077016 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23343561 PMID:23532549 PMID:23535490 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24609974 PMID:24661410 PMID:24755245 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25595153 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26384010 PMID:26446061 PMID:26467025 PMID:26544041 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26621826 PMID:26717662 PMID:26876767 PMID:26993267 PMID:27123484 PMID:28074849 PMID:28492532 PMID:29334453 PMID:30980674 |
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NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
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NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
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Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3 DNA: missense mutation: exon 16 : p.N1001K |
OMIM ClinVar |
PMID:3508699 PMID:6660252 PMID:11326335 PMID:11371648 PMID:11738931 PMID:12243921 PMID:12610651 PMID:15048894 PMID:15301839 PMID:15316014 PMID:16884893 PMID:17021166 PMID:18414213 PMID:18479388 PMID:19702560 PMID:19786696 PMID:20371507 PMID:20956790 PMID:21416599 PMID:21692795 PMID:21893419 PMID:22029951 PMID:22495306 PMID:22581653 PMID:22591750 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23360469 PMID:23550958 PMID:23758435 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24848745 PMID:25326635 PMID:25326637 PMID:25348405 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26068938 PMID:26350204 PMID:26467025 PMID:26637798 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27153334 PMID:27159988 PMID:27290639 PMID:27328862 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27854218 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:28867142 PMID:29100083 PMID:29186148 PMID:29215089 PMID:29358611 PMID:29625812 PMID:29655203 PMID:30564305 PMID:30619928 PMID:32860008, PMID:16417554 |
RGD:13207596 |
NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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Scn3a |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 |
ClinVar |
PMID:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 PMID:26068938 PMID:27153334 PMID:28492532 |
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NCBI chr 3:51,530,897...51,643,140
Ensembl chr 3:51,532,627...51,643,140
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Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO |
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5 |
ClinVar |
PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 |
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NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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Scn8a |
sodium voltage-gated channel alpha subunit 8 |
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ISO |
ClinVar Annotator: match by term: Seizures, benign familial infantile, 5 |
ClinVar OMIM |
PMID:18414213 PMID:25741868 PMID:26677014 PMID:27210545 PMID:28492532 |
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NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Benign familial neonatal seizures 1 ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia ClinVar Annotator: match by OMIM:121200 |
OMIM ClinVar |
PMID:3360469 PMID:7980108 PMID:9425895 PMID:9430594 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:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 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: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:25046240 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 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:28133863 PMID:28139826 PMID:28399683 PMID:28492532 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29390993 PMID:29429461 PMID:29655203 PMID:29933521 PMID:30126342 PMID:30185235 PMID:31152295 PMID:31199083 PMID:32860008 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
ClinVar Annotator: match by term: Benign familial neonatal seizures 2 |
ClinVar |
PMID:12742592 PMID:15249611 PMID:17129708 PMID:28492532 PMID:29314763 PMID:31199083 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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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: Benign familial neonatal seizures 2 DNA:missense mutation:cds:p.W309R (human) DNA:missense mutation:cds:p.G263V (human) ClinVar Annotator: match by OMIM:121201 |
OMIM ClinVar |
PMID:1859177 PMID:9425900 PMID:10852552 PMID:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879, PMID:10852552, PMID:9425900 |
RGD:9686433, RGD:9686418 |
NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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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 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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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:16916607 PMID:22275249 PMID:22926866 PMID:23621294 PMID:23692823 PMID:25741868 PMID:25959266 PMID:26544041 PMID:27535030 PMID:27602407 PMID:27779742 PMID:28492532 PMID:30185235 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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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:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 |
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NCBI chr18:51,619,007...51,651,267
Ensembl chr18:51,619,007...51,651,267
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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 chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
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G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19380078 PMID:26910900 |
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NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
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ISO ISS |
ClinVar Annotator: match by term: Benign Neonatal Epilepsy ClinVar Annotator: match by term: Benign familial neonatal seizures OMIM:121200 | OMIM:121201 | OMIM:269720 |
ClinVar MouseDO |
PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:21703448 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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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:28492532 |
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NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile |
ClinVar |
PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008 |
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NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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G |
Nkx2-1 |
NK2 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress 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) ClinVar Annotator: match by OMIM:610978 |
OMIM ClinVar |
PMID:11854318 PMID:11854319 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:18788921 PMID:19176457 PMID:19336474 PMID:24555207 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29538355, PMID:26839702, PMID:18788921, PMID:23379327, PMID:23911641 |
RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 |
NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
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Bax |
BCL2 associated X, apoptosis regulator |
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IEP |
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RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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G |
Bid |
BH3 interacting domain death agonist |
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IEP |
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RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 4:153,439,812...153,465,247
Ensembl chr 4:153,442,218...153,465,203
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G |
Casp3 |
caspase 3 |
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IEP |
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RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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G |
Casp8 |
caspase 8 |
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IEP |
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RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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G |
Casp9 |
caspase 9 |
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IEP |
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RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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G |
Cat |
catalase |
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IDA |
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RGD |
PMID:19693467 |
RGD:5130750 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
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ISO |
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RGD |
PMID:16888287 |
RGD:5130981 |
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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G |
Cd209 |
CD209 molecule |
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ISO |
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RGD |
PMID:20050784 |
RGD:5131185 |
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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G |
Cd209c |
CD209c molecule |
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ISO |
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RGD |
PMID:20050784 |
RGD:5131185 |
NCBI chr12:2,837,991...2,846,709
Ensembl chr12:2,838,128...2,843,772
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G |
Chi3l1 |
chitinase 3 like 1 |
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ISO |
protein:decreased secretion:lung, secretion (human) |
RGD |
PMID:20558631 |
RGD:4892651 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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IEP |
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RGD |
PMID:19951473 |
RGD:5134972 |
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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G |
Dag1 |
dystroglycan 1 |
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ISO |
DNA:SNP: :p.N494H (human) |
RGD |
PMID:17196572 |
RGD:11537474 |
NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
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G |
Edn1 |
endothelin 1 |
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IEP |
protein:increased expression:lung (rat) |
RGD |
PMID:20647310 |
RGD:4144841 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Epas1 |
endothelial PAS domain protein 1 |
treatment |
IEP |
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RGD |
PMID:23065129 |
RGD:10395385 |
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
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RGD |
PMID:22003089 |
RGD:10402122 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:: (human) |
RGD |
PMID:24120392 |
RGD:12792215 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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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 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
DNA:deletion, haplotype:: (human) |
RGD |
PMID:24120392 |
RGD:12792215 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment |
IEP |
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RGD |
PMID:23065129, PMID:26431790 |
RGD:10395385, RGD:11537057 |
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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G |
Il1b |
interleukin 1 beta |
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ISO |
protein:increased expression:lung CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16813970, PMID:15539764 |
RGD:4143172 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Mif |
macrophage migration inhibitory factor |
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ISO |
associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung |
RGD |
PMID:18097062 |
RGD:4891007 |
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO |
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RGD |
PMID:19097983 |
RGD:5129685 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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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 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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G |
Postn |
periostin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22363622 |
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NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
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G |
Scgb1a1 |
secretoglobin family 1A member 1 |
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ISO |
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RGD |
PMID:11435254 |
RGD:5144211 |
NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
associated with Premature Birth;protein:increased expression:blood: |
RGD |
PMID:25140773 |
RGD:13208551 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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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 chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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G |
Sftpb |
surfactant protein B |
susceptibility |
ISO |
DNA:deletion:intron (human) DNA:polymorphism:intron (human) |
RGD |
PMID:15102713, PMID:17264398, PMID:12424586 |
RGD:4143405, RGD:4143384, RGD:4143418 |
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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G |
Sftpd |
surfactant protein D |
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ISO |
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RGD |
PMID:17264398 |
RGD:4143384 |
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tp53 |
tumor protein p53 |
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IEP |
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RGD |
PMID:26431790 |
RGD:11537057 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Txn1 |
thioredoxin 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20812253 |
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NCBI chr 5:75,049,735...75,057,731
Ensembl chr 5:75,049,747...75,057,752
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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 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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G |
Krt2 |
keratin 2 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens ClinVar Annotator: match by OMIM:146800 |
OMIM ClinVar |
PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:9204966 PMID:9804344 PMID:10233323 PMID:10620137 PMID:11531804 PMID:28492532 |
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NCBI chr 7:143,412,858...143,420,463
Ensembl chr 7:143,412,858...143,420,027
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Glaucoma, congenital ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset ClinVar Annotator: match by term: Congenital glaucoma ClinVar Annotator: match by OMIM:231300 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 |
PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 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:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29556725 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489, PMID:12624268 |
RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 |
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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G |
Foxc1 |
forkhead box C1 |
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ISS ISO |
OMIM:231300 ClinVar Annotator: match by term: Congenital glaucoma |
MouseDO ClinVar |
PMID:32832252 |
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NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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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, congenital ClinVar Annotator: match by term: Congenital glaucoma |
ClinVar |
PMID:19656777 PMID:24033266 |
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NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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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:17563717 PMID:22194650 PMID:22736945 |
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NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
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G |
Rmdn2 |
regulator of microtubule dynamics 2 |
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ISO |
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A |
ClinVar |
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NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777
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G |
Tyr |
tyrosinase |
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ISS |
OMIM:231300 |
MouseDO |
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NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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G |
A4galt |
alpha 1,4-galactosyltransferase (P blood group) |
|
ISO |
ClinVar Annotator: match by term: Hyperostosis, Cortical, Congenital |
ClinVar |
PMID:20971946 |
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NCBI chr 7:124,085,832...124,110,440
Ensembl chr 7:124,085,834...124,089,385
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
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 |
PMID:2037280 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:11090261 PMID:11317364 PMID:11432962 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19550437 PMID:20696291 PMID:21249479 PMID:21567126 PMID:21667357 PMID:21884818 PMID:22589248 PMID:22753364 PMID:24147872 PMID:24390061 PMID:24668929 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26633542 PMID:27060301 PMID:27132807 PMID:27509835 PMID:27510842 PMID:27748872 PMID:28378289 PMID:28492532 PMID:29543232 PMID:29946973, PMID:17309652, PMID:15864348 |
RGD:5688296, RGD:11667069 |
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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G |
Col1a2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Infantile cortical hyperostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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G |
Mymk |
myomaker, myoblast fusion factor |
|
ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences |
ClinVar OMIM |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 |
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NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
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G |
Cpt2 |
carnitine palmitoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal ClinVar Annotator: match by OMIM:608836 |
OMIM ClinVar |
PMID:736528 PMID:835844 PMID:2647738 PMID:2762996 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10862092 PMID:11855939 PMID:12560872 PMID:12673791 PMID:12707442 PMID:15642848 PMID:15776096 PMID:16225172 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17709715 PMID:17936304 PMID:18363739 PMID:18550408 PMID:18925671 PMID:20301431 PMID:20810031 PMID:21227726 PMID:21709843 PMID:21913903 PMID:22652984 PMID:22854105 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:24033266 PMID:24398345 PMID:24602495 PMID:25326635 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:27123472 PMID:27629963 PMID:28492532 PMID:28516040 PMID:28779239 |
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NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
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ISO |
ClinVar Annotator: match by term: Child syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:308050 |
OMIM ClinVar CTD |
PMID:10710235 PMID:11907515 PMID:12966526 PMID:18414213 PMID:25526675 PMID:28492532 |
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NCBI chr X:152,933,118...152,964,399
Ensembl chr X:152,933,069...152,964,390
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G |
Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
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ISO |
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: Zunich neuroectodermal syndrome ClinVar Annotator: match by OMIM:280000 |
OMIM ClinVar |
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 |
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NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
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G |
Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Chitayat syndrome |
OMIM ClinVar |
PMID:8418638 PMID:25741868 PMID:27738187 |
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NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
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G |
Iftap |
intraflagellar transport associated protein |
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ISO |
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas |
ClinVar |
PMID:8810255 PMID:25739914 PMID:28492532 |
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NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
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G |
Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar Annotator: match by OMIM:233650 |
OMIM ClinVar |
PMID:8810255 PMID:9630231 PMID:10701853 PMID:10891452 PMID:11133745 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:15908971 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18822103 PMID:19064334 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21624848 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24817258 PMID:24985406 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27609655 PMID:28216420 PMID:28492532 PMID:28747913 PMID:28769923 PMID:28864286 PMID:30290665 PMID:30307608 PMID:30858051 |
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NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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G |
Rag2 |
recombination activating 2 |
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ISO |
ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas |
OMIM ClinVar |
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16111638 PMID:16960852 PMID:17572155 PMID:18033247 PMID:18463379 PMID:19178939 PMID:19414857 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21502542 PMID:21624848 PMID:21625022 PMID:22295088 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:24331380 PMID:24481607 PMID:25707801 PMID:25739914 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30305145 PMID:30307608 |
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NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
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ISO |
ClinVar Annotator: match by term: HYPERINSULINISM, CONGENITAL ClinVar Annotator: match by term: Familial hyperinsulinism ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy 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 Annotator: match by OMIM:256450 ClinVar Annotator: match by term: familial hyperinsulinism ClinVar Annotator: match by term: Congenital Hyperinsulinism |
ClinVar CTD |
PMID:7716548 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9519757 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11457841 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15842514 PMID:15855351 PMID:16186397 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16595597 PMID:16860127 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17668386 PMID:17823772 PMID:18025408 PMID:18339976 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20424228 PMID:20427569 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943781 PMID:21378087 PMID:21422196 PMID:21716120 PMID:21851374 PMID:21992908 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22385882 PMID:22562119 PMID:22704848 PMID:22802590 PMID:22855730 PMID:22902787 PMID:22992668 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23771172 PMID:23771920 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24442125 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24768178 PMID:24937539 PMID:24959012 PMID:25115353 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25525159 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27188453 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:28095440 PMID:28442472 PMID:28492532 PMID:28701683 PMID:29207974 PMID:29644095 PMID:29681852 PMID:30297969 PMID:30352420 PMID:30386300 PMID:30447144 PMID:30462810 PMID:31604004 PMID:32027066, PMID:7716548, PMID:23506826, PMID:23652837, PMID:20573158, PMID:16429405, PMID:24401662, PMID:21422196, PMID:18596924 |
RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 |
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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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 chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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G |
Glud1 |
glutamate dehydrogenase 1 |
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ISO |
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RGD |
PMID:9571255 |
RGD:1302513 |
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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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 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
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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 |
PMID:10227563 PMID:10768098 PMID:10983627 PMID:15281001 PMID:15793260 PMID:15928245 PMID:16883527 PMID:16946562 PMID:18414213 PMID:21105491 PMID:22140441 PMID:22232426 PMID:23247789 PMID:24033266 PMID:24097065 PMID:25041077 PMID:25631608 PMID:25741868 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26740944 PMID:27080136 PMID:27420379 PMID:28492532, PMID:20164212 |
RGD:12904701 |
NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
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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, CONGENITAL 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 |
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29681852, PMID:23506826, PMID:23652837, PMID:24401662, PMID:17316607, PMID:24421282 |
RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 |
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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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:29069600 |
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NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
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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 chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
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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:7920640 PMID:8571952 PMID:9238033 PMID:20944642 PMID:23232694 PMID:25620205 PMID:25741868 |
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NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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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 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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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 chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
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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 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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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 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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G |
Frmd7 |
FERM domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Infantile nystagmus, X-linked CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:310700 |
OMIM ClinVar CTD |
PMID:16020310 PMID:17013395 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25741868 PMID:25916882 PMID:28492532 |
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NCBI chr X:138,095,707...138,149,702
Ensembl chr X:138,098,185...138,148,967
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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 ClinVar Annotator: match by OMIM:300814 |
OMIM ClinVar |
PMID:17516023 PMID:18523664 PMID:19390656 PMID:25741868 |
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NCBI chr X:23,668,363...23,693,162
Ensembl chr X:23,668,363...23,693,162
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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:28492532 |
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NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
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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:28492532 |
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NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
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G |
Coro1a |
coronin 1A |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar Annotator: match by OMIM:615401 |
OMIM ClinVar |
PMID:18836449 PMID:19097825 PMID:23522482 PMID:25073507 PMID:25741868 PMID:28492532 |
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NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
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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:28492532 |
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NCBI chr 1:198,199,032...198,209,178
Ensembl chr 1:198,199,622...198,209,150
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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:28492532 |
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NCBI chr 1:198,192,773...198,198,975
Ensembl chr 1:198,192,773...198,198,975
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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:28492532 |
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NCBI chr 1:198,219,012...198,225,775
Ensembl chr 1:198,219,054...198,225,580
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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:28492532 |
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NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
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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:28492532 |
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NCBI chr 1:198,214,797...198,218,706
Ensembl chr 1:198,214,797...198,218,706
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G |
Ypel3 |
yippee-like 3 |
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ISO |
ClinVar Annotator: match by term: Immunodeficiency 8 |
ClinVar |
PMID:18836449 PMID:28492532 |
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NCBI chr 1:198,210,525...198,213,821
Ensembl chr 1:198,210,525...198,213,816
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G |
Krt1 |
keratin 1 |
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ISO |
ClinVar Annotator: match by term: Ichthyosis, cyclic, with epidermolytic hyperkeratosis ClinVar Annotator: match by OMIM:607602 |
OMIM ClinVar |
PMID:8751983 PMID:10053007 PMID:14708600 PMID:31046801 |
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NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
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G |
Krt10 |
keratin 10 |
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ISO |
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OMIM |
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NCBI chr10:87,296,445...87,301,307
Ensembl chr10:87,296,451...87,300,736
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G |
Adrb1 |
adrenoceptor beta 1 |
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ISO |
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RGD |
PMID:20203292 |
RGD:5129107 |
NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
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G |
Adrb2 |
adrenoceptor beta 2 |
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ISO |
DNA:polymorphisms (human) |
RGD |
PMID:20203292, PMID:17502834 |
RGD:5129107, RGD:4145099 |
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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G |
Adrb3 |
adrenoceptor beta 3 |
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ISO |
protein:increased expression:bronchus |
RGD |
PMID:20203292 |
RGD:5129107 |
NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
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G |
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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G |
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 9:94,228,960...94,232,001
Ensembl chr 9:94,228,960...94,232,001
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:16622660 |
RGD:6483578 |
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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G |
C5 |
complement C5 |
severity |
ISO |
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RGD |
PMID:3540828 |
RGD:5130162 |
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
protein:increased expression:paranasal sinus |
RGD |
PMID:17999785 |
RGD:4145455 |
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
mRNA, protein:increased expression:neutrophil |
RGD |
PMID:18026571 |
RGD:4145491 |
NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
|
|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20438838 |
RGD:4143275 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
|
|
G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:20575639, PMID:19386685 |
RGD:5130907, RGD:5130902 |
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
|
|
G |
Ccr3 |
C-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19017998 |
RGD:4145632 |
NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
|
|
G |
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 chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
|
|
G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:15102009 |
RGD:7248443 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
|
|
G |
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 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis ClinVar Annotator: match by OMIM:219700 ClinVar Annotator: match by null 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 |
PMID:754013 PMID:1282900 PMID:1283148 PMID:1283149 PMID:1284466 PMID:1284468 PMID:1284477 PMID:1284478 PMID:1284530 PMID:1284531 PMID:1284534 PMID:1284535 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:1373934 PMID:1373935 PMID:1374052 PMID:1376016 PMID:1376017 PMID:1377276 PMID:1379210 PMID:1379211 PMID:1379413 PMID:1380673 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384326 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1715308 PMID:1718974 PMID:1721624 PMID:1722350 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1879436 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:2475911 PMID:2565038 PMID:2570460 PMID:2915972 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:7506096 PMID:7506605 PMID:7508183 PMID:7508414 PMID:7509231 PMID:7509310 PMID:7509683 PMID:7509684 PMID:7512860 PMID:7512993 PMID:7513292 PMID:7513293 PMID:7513294 PMID:7513889 PMID:7515303 PMID:7516232 PMID:7516234 PMID:7516305 PMID:7517264 PMID:7517268 PMID:7518409 PMID:7518829 PMID:7520022 PMID:7520798 PMID:7520799 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7524909 PMID:7524910 PMID:7524913 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7526927 PMID:7526929 PMID:7527269 PMID:7529319 PMID:7529962 PMID:7530553 PMID:7532150 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7538127 PMID:7539080 PMID:7539342 PMID:7540587 PMID:7541274 PMID:7541510 PMID:7542778 PMID:7543317 PMID:7543385 PMID:7543567 PMID:7544319 PMID:7544320 PMID:7544788 PMID:7545856 PMID:7545869 PMID:7550227 PMID:7550243 PMID:7551394 PMID:7560099 PMID:7573058 PMID:7581390 PMID:7581407 PMID:7599637 PMID:7606851 PMID:7668304 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7682196 PMID:7682884 PMID:7682896 PMID:7682984 PMID:7683628 PMID:7683952 PMID:7683954 PMID:7684641 PMID:7684644 PMID:7684646 PMID:7686336 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7689898 PMID:7689902 PMID:7691344 PMID:7691345 PMID:7691352 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7694298 PMID:7739684 PMID:7757078 PMID:7868128 PMID:8081395 PMID:8097485 PMID:8100293 PMID:8213163 PMID:8262525 PMID:8343799 PMID:8406518 PMID:8421472 PMID:8477260 PMID:8528204 PMID:8530001 PMID:8533846 PMID:8535440 PMID:8556303 PMID:8563237 PMID:8605891 PMID:8627844 PMID:8644755 PMID:8659542 PMID:8662892 PMID:8663008 PMID:8680406 PMID:8680407 PMID:8698344 PMID:8702904 PMID:8707304 PMID:8707306 PMID:8723693 PMID:8723694 PMID:8741733 PMID:8818956 PMID:8825494 PMID:8825927 PMID:8829633 PMID:8829643 PMID:8834261 PMID:8844213 PMID:8863168 PMID:8865181 PMID:8889582 PMID:8910333 PMID:8922636 PMID:8947061 PMID:8956039 PMID:8968585 PMID:8992448 PMID:9003498 PMID:9003508 PMID:9017943 PMID:9039981 PMID:9043501 PMID:9043706 PMID:9056552 PMID:9067754 PMID:9067761 PMID:9084934 PMID:9099843 PMID:9101293 PMID:9101301 PMID:9135274 PMID:9150159 PMID:9150843 PMID:9163660 PMID:9164051 PMID:9222768 PMID:9239681 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9298826 PMID:9305991 PMID:9374552 PMID:9375855 PMID:9379898 PMID:9383031 PMID:9401006 PMID:9401110 PMID:9429141 PMID:9435322 PMID:9439669 PMID:9452112 PMID:9459003 PMID:9482579 PMID:9499426 PMID:9507391 PMID:9521595 PMID:9550361 PMID:9550362 PMID:9554753 PMID:9557894 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9678705 PMID:9683582 PMID:9691989 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9797105 PMID:9804160 PMID:9806422 PMID:9822639 PMID:9842999 PMID:9849891 PMID:9853928 PMID:9881185 PMID:9915972 PMID:9917439 PMID:9920885 PMID:9921909 PMID:9950364 PMID:9950763 PMID:10026154 PMID:10077727 PMID:10094564 PMID:10103316 PMID:10200050 PMID:10204861 PMID:10206682 PMID:10225950 PMID:10341008 PMID:10362539 PMID:10376575 PMID:10386624 PMID:10388469 PMID:10401194 PMID:10425036 PMID:10425081 PMID:10439967 PMID:10445602 PMID:10447267 PMID:10453741 PMID:10462611 PMID:10480369 PMID:10515411 PMID:10517260 PMID:10556281 PMID:10562297 PMID:10562541 PMID:10571949 PMID:10571955 PMID:10601093 PMID:10605524 PMID:10612827 PMID:10612849 PMID:10636451 PMID:10651488 PMID:10652351 PMID:10653140 PMID:10653141 PMID:10653145 PMID:10668931 PMID:10671057 PMID:10719683 PMID:10746558 PMID:10755189 PMID:10762539 PMID:10764788 PMID:10777364 PMID:10782933 PMID:10790220 PMID:10790222 PMID:10794365 PMID:10798353 PMID:10798368 PMID:10801389 PMID:10812063 PMID:10834512 PMID:10852925 PMID:10862786 PMID:10869121 PMID:10875853 PMID:10875876 PMID:10878476 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10922396 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10970190 PMID:10980579 PMID:10982968 PMID:10993719 PMID:11001817 PMID:11005149 PMID:11022925 PMID:11025834 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11102992 PMID:11118444 PMID:11119745 PMID:11137998 PMID:11158459 PMID:11168023 PMID:11168024 PMID:11171377 PMID:11180668 PMID:11186891 PMID:11219165 PMID:11242048 PMID:11276378 PMID:11278813 PMID:11280952 PMID:11288708 PMID:11288718 PMID:11303517 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11390899 PMID:11401894 PMID:11427889 PMID:11430710 PMID:11446424 PMID:11448786 PMID:11462247 PMID:11466205 PMID:11471192 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11555145 PMID:11585852 PMID:11589722 PMID:11668613 PMID:11729110 PMID:11733566 PMID:11737931 PMID:11746017 PMID:11781704 PMID:11786964 PMID:11788090 PMID:11788091 PMID:11788611 PMID:11796430 PMID:11796434 PMID:11796591 PMID:11810271 PMID:11823443 PMID:11845002 PMID:11882668 PMID:11883825 PMID:11888281 PMID:11924117 PMID:11933191 PMID:11938353 PMID:11938439 PMID:11950844 PMID:12000363 PMID:12007216 PMID:12014388 PMID:12070257 PMID:12070264 PMID:12084728 PMID:12089190 PMID:12116247 PMID:12120234 PMID:12124743 PMID:12127423 PMID:12133923 PMID:12166651 PMID:12167682 PMID:12172395 PMID:12183675 PMID:12200467 PMID:12215837 PMID:12357328 PMID:12361483 PMID:12394343 PMID:12397022 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12521276 PMID:12529365 PMID:12530290 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12651858 PMID:12651880 PMID:12658038 PMID:12679372 PMID:12719375 PMID:12732620 PMID:12752573 PMID:12759680 PMID:12767731 PMID:12783301 PMID:12815607 PMID:12820707 PMID:12825076 PMID:12829453 PMID:12833420 PMID:12843327 PMID:12843337 PMID:12865275 PMID:12874665 PMID:12900515 PMID:12913074 PMID:12919146 PMID:12938099 PMID:12939655 PMID:12939925 PMID:12940920 PMID:12952861 PMID:12955726 PMID:14526128 PMID:14551163 PMID:14623323 PMID:14641997 PMID:14685259 PMID:14685937 PMID:14696845 PMID:14872121 PMID:14963811 PMID:14993601 PMID:14998948 PMID:15008989 PMID:15017334 PMID:15024729 PMID:15025720 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 PMID:15130785 PMID:15141088 PMID:15151509 PMID:15176679 PMID:15181619 PMID:15218997 PMID:15246977 PMID:15284228 PMID:15287992 PMID:15300780 PMID:15333598 PMID:15354332 PMID:15357566 PMID:15365999 PMID:15367919 PMID:15371902 PMID:15371903 PMID:15371907 PMID:15371908 PMID:15390350 PMID:15463840 PMID:15463866 PMID:15463882 PMID:15463898 PMID:15463906 PMID:15463907 PMID:15463919 PMID:15480987 PMID:15482777 PMID:15486385 PMID:15502086 PMID:15504721 PMID:15507674 PMID:15509635 PMID:15520400 PMID:15536480 PMID:15537723 PMID:15591474 PMID:15614862 PMID:15619635 PMID:15638824 PMID:15645635 PMID:15666307 PMID:15681482 PMID:15698945 PMID:15698946 PMID:15705292 PMID:15716623 PMID:15727251 PMID:15738290 PMID:15744517 PMID:15744523 PMID:15744829 PMID:15758663 PMID:15772171 PMID:15776432 PMID:15784035 PMID:15829248 PMID:15841482 PMID:15853950 PMID:15857421 PMID:15858154 PMID:15880796 PMID:15905293 PMID:15948195 PMID:15952991 PMID:15987793 PMID:15994263 PMID:16020494 PMID:16049310 PMID:16051530 PMID:16126774 PMID:16128988 PMID:16132229 PMID:16134171 PMID:16137181 PMID:16141195 PMID:16187186 PMID:16189704 PMID:16193325 PMID:16196493 PMID:16202790 PMID:16240056 PMID:16244288 PMID:16251901 PMID:16263954 PMID:16272798 PMID:16283068 PMID:16339147 PMID:16362824 PMID:16379540 PMID:16417523 PMID:16423550 PMID:16429425 PMID:16435054 PMID:16436643 PMID:16436646 PMID:16442101 PMID:16443646 PMID:16454991 PMID:16463024 PMID:16478680 PMID:16481891 PMID:16484308 PMID:16488363 PMID:16493442 PMID:16572913 PMID:16596947 PMID:16617247 PMID:16635477 PMID:16678503 PMID:16714368 PMID:16741161 PMID:16763370 PMID:16778407 PMID:16778595 PMID:16784904 PMID:16786510 PMID:16801189 PMID:16822950 PMID:16837565 PMID:16840743 PMID:16915933 PMID:16931591 PMID:16963320 PMID:16980811 PMID:16989640 PMID:17003641 PMID:17015492 PMID:17020467 PMID:17020473 PMID:17035430 PMID:17062471 PMID:17095337 PMID:17098482 PMID:17098864 PMID:17137500 PMID:17175965 PMID:17206681 PMID:17234733 PMID:17235394 PMID:17244607 PMID:17272608 PMID:17290305 PMID:17314234 PMID:17329263 PMID:17331079 PMID:17347447 PMID:17353351 PMID:17378246 PMID:17380060 PMID:17398169 PMID:17407489 PMID:17413420 PMID:17440499 PMID:17448246 PMID:17449517 PMID:17475917 PMID:17481968 PMID:17489851 PMID:17495464 PMID:17507277 PMID:17516627 PMID:17525091 PMID:17539902 PMID:17541014 PMID:17560176 PMID:17572159 PMID:17580535 PMID:17594397 PMID:17594398 PMID:17662673 PMID:17663888 PMID:17673962 PMID:17678620 PMID:17681820 PMID:17692578 PMID:17716958 PMID:17718859 PMID:17719933 PMID:17825628 PMID:17850636 PMID:17890437 PMID:17901983 PMID:17949679 PMID:17968991 PMID:17968998 PMID:17975025 PMID:17981921 PMID:18178635 PMID:18195584 PMID:18230692 PMID:18279436 PMID:18301294 PMID:18304229 PMID:18305154 PMID:18306312 PMID:18344710 PMID:18373402 PMID:18421494 PMID:18449561 PMID:18455968 PMID:18456578 PMID:18467194 PMID:18493878 PMID:18497194 PMID:18500736 PMID:18501000 PMID:18507830 PMID:18556774 PMID:18567645 PMID:18597042 PMID:18676185 PMID:18683213 PMID:18685558 PMID:18687795 PMID:18703181 PMID:18703788 PMID:18716917 PMID:18722008 PMID:18769034 PMID:18782298 PMID:18796364 PMID:18832460 PMID:18937943 PMID:18951463 PMID:18955805 PMID:19014821 PMID:19017867 PMID:19019741 PMID:19019984 PMID:19092437 PMID:19092444 PMID:19166122 PMID:19181743 PMID:19181854 PMID:19202204 PMID:19236881 PMID:19265749 PMID:19309154 PMID:19318035 PMID:19318346 PMID:19324992 PMID:19339519 PMID:19359498 PMID:19369536 PMID:19372188 PMID:19381710 PMID:19383231 PMID:19406970 PMID:19445912 PMID:19447078 PMID:19457724 PMID:19491324 PMID:19540513 PMID:19587087 PMID:19625452 PMID:19645745 PMID:19652440 PMID:19707853 PMID:19710401 PMID:19715466 PMID:19724303 PMID:19734129 PMID:19734299 PMID:19759008 PMID:19763152 PMID:19774621 PMID:19810821 PMID:19812525 PMID:19833837 PMID:19843100 PMID:19845690 PMID:19846789 PMID:19858235 PMID:19880712 PMID:19883345 PMID:19885835 PMID:19893581 PMID:19897426 PMID:19910674 PMID:19914431 PMID:19914443 PMID:20021716 PMID:20031113 PMID:20052365 PMID:20052366 PMID:20052766 PMID:20059485 PMID:20100616 PMID:20110398 PMID:20144563 PMID:20163773 PMID:20167849 PMID:20190016 PMID:20217271 PMID:20233062 PMID:20301428 PMID:20307669 PMID:20351098 PMID:20351101 PMID:20381036 PMID:20416310 PMID:20435887 PMID:20448091 PMID:20460946 PMID:20460947 PMID:20510657 PMID:20522854 PMID:20538955 PMID:20551465 PMID:20558957 PMID:20560922 PMID:20562583 PMID:20571109 PMID:20580320 PMID:20595578 PMID:20616359 PMID:20622033 PMID:20639189 PMID:20651897 PMID:20657600 PMID:20659818 PMID:20691141 PMID:20705837 PMID:20706124 PMID:20714932 PMID:20717170 PMID:20722470 PMID:20797923 PMID:20837875 PMID:20846557 PMID:20849526 PMID:20865572 PMID:20875776 PMID:20879059 PMID:20880762 PMID:20920895 PMID:20932301 PMID:20932506 PMID:20949073 PMID:20952391 PMID:20972246 PMID:20976528 PMID:20977904 PMID:20981092 PMID:21068670 PMID:21083385 PMID:21097845 PMID:21131649 PMID:21184098 PMID:21198395 PMID:21228398 PMID:21233271 PMID:21254931 PMID:21303308 PMID:21317048 PMID:21388895 PMID:21416780 PMID:21429822 PMID:21455600 PMID:21474639 PMID:21483833 PMID:21499205 PMID:21507732 PMID:21514289 PMID:21520337 PMID:21521896 PMID:21538969 PMID:21602569 PMID:21636331 PMID:21642448 PMID:21658649 PMID:21679131 PMID:21708286 PMID:21716075 PMID:21779199 PMID:21783433 PMID:21796730 PMID:21804385 PMID:21811577 PMID:21825083 PMID:21837768 PMID:21858268 PMID:21909392 PMID:21917531 PMID:21931512 PMID:21948798 PMID:21976485 PMID:21983161 PMID:22020151 PMID:22043142 PMID:22047557 PMID:22094894 PMID:22119790 PMID:22137130 PMID:22138447 PMID:22138491 PMID:22148899 PMID:22156145 PMID:22160394 PMID:22194755 PMID:22210114 PMID:22271776 PMID:22274833 PMID:22293084 PMID:22299590 PMID:22318583 PMID:22324837 PMID:22326559 PMID:22362925 PMID:22383668 PMID:22395041 PMID:22406018 PMID:22423042 PMID:22427236 PMID:22438829 PMID:22439019 PMID:22442927 PMID:22468138 PMID:22483971 PMID:22490504 PMID:22504961 PMID:22572733 PMID:22591852 PMID:22608296 PMID:22612315 PMID:22627569 PMID:22658665 PMID:22664493 PMID:22678879 PMID:22724884 PMID:22768251 PMID:22842702 PMID:22859523 PMID:22874010 PMID:22892530 PMID:22942289 PMID:22950544 PMID:22973227 PMID:22975760 PMID:22981120 PMID:22981294 PMID:22992393 PMID:22992668 PMID:22995991 PMID:23017188 PMID:23027855 PMID:23055971 PMID:23065710 PMID:23076339 PMID:23082198 PMID:23083715 PMID:23089694 PMID:23104983 PMID:23168765 PMID:23217326 PMID:23276700 PMID:23302613 PMID:23313410 PMID:23343000 PMID:23349053 PMID:23361109 PMID:23378595 PMID:23378603 PMID:23381846 PMID:23405520 PMID:23420618 PMID:23430892 PMID:23466340 PMID:23470247 PMID:23483918 PMID:23503723 PMID:23514810 PMID:23523379 PMID:23555973 PMID:23590265 PMID:23613805 PMID:23666117 PMID:23670503 PMID:23687349 PMID:23712087 PMID:23716676 PMID:23721890 PMID:23727931 PMID:23751316 PMID:23757359 PMID:23757361 PMID:23758905 PMID:23765052 PMID:23775370 PMID:23781395 PMID:23810505 PMID:23837941 PMID:23846440 PMID:23857699 PMID:23883480 PMID:23891399 PMID:23924900 PMID:23933162 PMID:23951356 PMID:23953609 PMID:23955087 PMID:23974870 PMID:24019231 PMID:24022636 PMID:24033266 PMID:24058550 PMID:24066763 PMID:24081349 PMID:24106596 PMID:24129438 PMID:24204751 PMID:24225052 PMID:24243928 PMID:24269240 PMID:24272871 PMID:24375076 PMID:24388274 PMID:24418186 PMID:24419263 PMID:24433235 PMID:24434749 PMID:24440181 PMID:24440239 PMID:24451227 PMID:24461666 PMID:24517344 PMID:24525081 PMID:24559724 PMID:24561283 PMID:24586523 PMID:24631642 PMID:24633926 PMID:24649380 PMID:24696795 PMID:24697796 PMID:24727426 PMID:24762087 PMID:24784896 PMID:24813944 PMID:24816901 PMID:24836205 PMID:24958810 PMID:24973281 PMID:25016221 PMID:25024266 PMID:25033378 PMID:25042876 PMID:25049054 PMID:25060775 PMID:25066652 PMID:25087612 PMID:25097766 PMID:25122143 PMID:25145599 PMID:25148434 PMID:25171465 PMID:25192979 PMID:25203624 PMID:25251442 PMID:25266159 PMID:25266997 PMID:25274949 PMID:25277268 PMID:25287046 PMID:25304080 PMID:25308578 PMID:25311995 PMID:25326635 PMID:25346962 PMID:25383785 PMID:25404111 PMID:25443471 PMID:25452595 PMID:25473543 PMID:25489051 PMID:25492507 PMID:25525159 PMID:25556971 PMID:25569187 PMID:25569440 PMID:25580864 PMID:25583415 PMID:25636364 PMID:25651269 PMID:25667564 PMID:25674778 PMID:25682022 PMID:25688174 PMID:25697318 PMID:25698453 PMID:25704068 PMID:25735457 PMID:25739099 PMID:25741868 PMID:25741869 PMID:25754095 PMID:25755212 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824381 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25887396 PMID:25892339 PMID:25900089 PMID:25905921 PMID:25910067 PMID:25922769 PMID:25956447 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26003067 PMID:26014425 PMID:26070913 PMID:26075213 PMID:26087176 PMID:26089335 PMID:26095523 PMID:26098992 PMID:26100556 PMID:26135562 PMID:26146130 PMID:26160248 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26277102 PMID:26293390 PMID:26324139 PMID:26334177 PMID:26335950 PMID:26348465 PMID:26354092 PMID:26358851 PMID:26364555 PMID:26385858 PMID:26399542 PMID:26429520 PMID:26436105 PMID:26437683 PMID:26467025 PMID:26471113 PMID:26474553 PMID:26493493 PMID:26494713 PMID:26496611 PMID:26500004 PMID:26526220 PMID:26538069 PMID:26540286 PMID:26568242 PMID:26574590 PMID:26618866 PMID:26631874 PMID:26651825 PMID:26656651 PMID:26671754 PMID:26684250 PMID:26708955 PMID:26755536 PMID:26795017 PMID:26800689 PMID:26823392 PMID:26826884 PMID:26846474 PMID:26847993 PMID:26856987 PMID:26864378 PMID:26888287 PMID:26898888 PMID:26900683 PMID:26911355 PMID:26946416 PMID:26948992 PMID:26968770 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27026144 PMID:27049043 PMID:27081564 PMID:27086061 PMID:27131402 PMID:27143075 PMID:27145507 PMID:27158673 PMID:27160424 PMID:27171515 PMID:27175795 PMID:27195969 PMID:27209008 PMID:27214033 PMID:27214204 PMID:27222777 PMID:27261451 PMID:27264265 PMID:27298017 PMID:27311679 PMID:27324553 PMID:27334259 PMID:27449771 PMID:27469177 PMID:27518913 PMID:27533158 PMID:27535533 PMID:27555793 PMID:27578509 PMID:27625827 PMID:27659740 PMID:27706244 PMID:27707539 PMID:27717243 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27787503 PMID:27805836 PMID:27812499 PMID:27870577 PMID:27898234 PMID:27917292 PMID:28027573 PMID:28040058 PMID:28116329 PMID:28129809 PMID:28129813 PMID:28174639 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28242630 PMID:28325531 PMID:28332257 PMID:28348582 PMID:28371569 PMID:28408918 PMID:28419121 PMID:28440306 PMID:28456595 PMID:28465863 PMID:28469871 PMID:28475858 PMID:28492532 PMID:28502372 PMID:28536625 PMID:28544683 PMID:28546993 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28651844 PMID:28655774 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28805948 PMID:28830496 PMID:28863137 PMID:28947035 PMID:28957316 PMID:29035608 PMID:29099333 PMID:29124052 PMID:29126871 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29202459 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29279204 PMID:29307731 PMID:29327948 PMID:29431110 PMID:29451946 PMID:29484681 PMID:29497617 PMID:29504914 PMID:29520692 PMID:29589582 PMID:29590070 PMID:29669919 PMID:29685811 PMID:29779145 PMID:29782810 PMID:29805046 PMID:29807875 PMID:29859674 PMID:29879995 PMID:29936070 PMID:29944384 PMID:29951967 PMID:29997923 PMID:30046002 PMID:30081288 PMID:30134826 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30366773 PMID:30374031 PMID:30419605 PMID:30444886 PMID:30488522 PMID:30509709 PMID:30548586 PMID:30558651 PMID:30561903 PMID:30595473 PMID:30600261 PMID:30609409 PMID:30617673 PMID:30698611 PMID:30726326 PMID:30763667 PMID:30805437 PMID:30805499 PMID:30811104 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30992994 PMID:30996306 PMID:31005549 PMID:31088717 PMID:31126253 PMID:31136843 PMID:31245908 PMID:31251792 PMID:31310009 PMID:31311920 PMID:31423445 PMID:31561038 PMID:31589614 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31697873 PMID:31709488 PMID:31759907 PMID:31776420 PMID:31788424 PMID:31808782 PMID:31872980 PMID:31882543 PMID:31883651 PMID:31916691 PMID:31940241 PMID:31978131 PMID:32025909 PMID:32352720 PMID:32357917 PMID:32429104 PMID:32819855 PMID:63921865 PMID:238191399, PMID:1370365, PMID:24608905, PMID:11823443, PMID:2344617, PMID:19880712, PMID:1283149, PMID:11504703, PMID:9254853, PMID:17099022, PMID:19202204, PMID:1380943, PMID:11732487, PMID:9439669, PMID:7560099, PMID:9429141, PMID:1284535, PMID:1379413, PMID:19620404, PMID:1380723, PMID:17902144 |
RGD:4140436, RGD:11566051, RGD:734772, RGD:4140394, RGD:4140393, RGD:4140439, RGD:4140481, RGD:4140401, RGD:4140392, RGD:4140429, RGD:4140440, RGD:4140450, RGD:4140464, RGD:4140428, RGD:4140465, RGD:4140438, RGD:4140442, RGD:4140422, RGD:4139910, RGD:4140435 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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G |
Clca1 |
chloride channel accessory 1 |
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ISO |
mRNA, protein:increased expression:respiratory system mucosa |
RGD |
PMID:15218996 |
RGD:4145657 |
NCBI chr 2:250,897,980...250,923,711
Ensembl chr 2:250,897,969...250,923,744
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G |
Clcn2 |
chloride voltage-gated channel 2 |
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IDA |
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RGD |
PMID:8811102 |
RGD:704390 |
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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G |
Csf3r |
colony stimulating factor 3 receptor |
|
ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19293384 |
RGD:5133738 |
NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum |
RGD |
PMID:20818377, PMID:20818377 |
RGD:5135034, RGD:5135034 |
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion protein:increased expression:sputum |
RGD |
PMID:20818377, PMID:20818377 |
RGD:5135034, RGD:5135034 |
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
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ISO |
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RGD |
PMID:19597126 |
RGD:5135456 |
NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
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RGD |
PMID:19597126 |
RGD:5135456 |
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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G |
Cxcr2 |
C-X-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:20818377 |
RGD:5135034 |
NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion, neutrophil |
RGD |
PMID:19017998 |
RGD:4145632 |
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
severity |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:14593914 |
RGD:4889126 |
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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G |
Dctn4 |
dynactin subunit 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22772370 |
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NCBI chr18:55,797,188...55,824,195
Ensembl chr18:55,797,198...55,822,036
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G |
Defb4 |
defensin beta 4 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:9843998 |
RGD:4892267 |
NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
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G |
Edn1 |
endothelin 1 |
|
ISO |
protein:increased expression:sputum (human) |
RGD |
PMID:10445603 |
RGD:4145062 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Eng |
endoglin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30806029 |
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NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Ephx1 |
epoxide hydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:7516776 PMID:7892276 PMID:9288046 PMID:11283205 PMID:11406608 PMID:12704386 PMID:15692831 PMID:17532303 PMID:19017876 PMID:19620853 PMID:22188362 PMID:22992668 PMID:23252947 PMID:23426996 PMID:26314341 PMID:26555147 |
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NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
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G |
Fas |
Fas cell surface death receptor |
severity |
ISO |
|
RGD |
PMID:18685642 |
RGD:12903971 |
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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G |
Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:10567629 |
RGD:12904024 |
NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
|
ISO |
ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis |
OMIM ClinVar |
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:18347005 PMID:19915573 PMID:19965803 PMID:21109570 PMID:22992668 PMID:24033266 |
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NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
|
ISO |
|
RGD |
PMID:16690975 |
RGD:5134682 |
NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
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G |
Gstm1 |
glutathione S-transferase mu 1 |
no_association severity |
ISO |
DNA:deletion:: (human) DNA:deletion: : (human) DNA:deletion, haplotype:: (human) |
RGD |
PMID:24593045, PMID:22407040, PMID:10195071, PMID:20140303, PMID:23758905 |
RGD:10401929, RGD:14700942, RGD:12798506, RGD:12792246, RGD:12792207 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstm3 |
glutathione S-transferase mu 3 |
|
ISO |
|
RGD |
PMID:15115915 |
RGD:5135040 |
NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
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ISO |
|
RGD |
PMID:15115915 |
RGD:5135040 |
NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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G |
Gstt1 |
glutathione S-transferase theta 1 |
severity no_association |
ISO |
DNA:deletion, haplotype:: (human) DNA:deletion: : (human) DNA:deletion:: (human) |
RGD |
PMID:23758905, PMID:22407040, PMID:20140303, PMID:24593045 |
RGD:12792207, RGD:14700942, RGD:12792246, RGD:10401929 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
|
ISO |
|
RGD |
PMID:21263071 |
RGD:5135530 |
NCBI chr10:31,561,838...31,590,624
Ensembl chr10:31,561,895...31,588,943
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G |
Hfe |
homeostatic iron regulator |
severity |
ISO |
DNA:missense mutations: :p.H63D, p.C282Y (human) ClinVar Annotator: match by term: Mucoviscidosis |
ClinVar |
PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 PMID:9356458 PMID:9462220 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12429850 PMID:12885340 PMID:14673107 PMID:15347835 PMID:15858186 PMID:16132052 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:20301613 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26365338 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083, PMID:30291871 |
RGD:14701045 |
NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
mRNA:protein:increased expression:lung |
RGD |
PMID:15184199 |
RGD:4145410 |
NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
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G |
Hspa1a |
heat shock protein family A (Hsp70) member 1A |
severity |
ISO |
DNA:polymorphism, haplotype: :1267A>G (human) |
RGD |
PMID:21993476, PMID:21993476 |
RGD:6767553, RGD:6767553 |
NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:8255671 |
RGD:12910480 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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G |
Igf1 |
insulin-like growth factor 1 |
|
ISO |
protein:increased expression:respiratory tract epithelium (rat) |
RGD |
PMID:22461702 |
RGD:12904899 |
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:15310308 |
RGD:12743589 |
NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
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G |
Il13 |
interleukin 13 |
|
ISO |
mRNA:increased expression:bronchoalveolar lavage fluid |
RGD |
PMID:15463872 |
RGD:4312589 |
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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G |
Il17a |
interleukin 17A |
|
ISO |
protein:increased expression:serum protein:increased expression:lung |
RGD |
PMID:19342416, PMID:21109552 |
RGD:4889105, RGD:4889130 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Il18 |
interleukin 18 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20026745 |
RGD:4889551 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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G |
Il18bp |
interleukin 18 binding protein |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:20026745 |
RGD:4889551 |
NCBI chr 1:167,091,521...167,095,727
Ensembl chr 1:167,091,522...167,093,560
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G |
Il1a |
interleukin 1 alpha |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:8333775 |
RGD:4142849 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Il1b |
interleukin 1 beta |
severity |
ISO |
DNA:SNPs: :rs1143634, rs1143639 (human) protein:increased expression:sputum |
RGD |
PMID:19431193, PMID:10515411 |
RGD:4142844, RGD:4143181 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:increased expression:sputum protein:decreased expression:blood, neutrophil |
RGD |
PMID:10515411, PMID:12547728 |
RGD:4143181, RGD:4143175 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:blood protein:increased expression:lung |
RGD |
PMID:16403491, PMID:20438838 |
RGD:5128672, RGD:4143275 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Il9 |
interleukin 9 |
|
ISO |
protein:increased expression:respiratory system mucosa |
RGD |
PMID:12782818 |
RGD:5128699 |
NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
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|
G |
Il9r |
interleukin 9 receptor |
|
ISO |
protein:increased expression:respiratory system mucosa |
RGD |
PMID:12782818 |
RGD:5128699 |
NCBI chr10:15,697,216...15,708,684
Ensembl chr10:15,696,824...15,710,423
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|
G |
Irf1 |
interferon regulatory factor 1 |
|
ISO |
protein:decreased expression:intestine epithelium, nasal cavity epithelium |
RGD |
PMID:10930443 |
RGD:5128720 |
NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
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|
G |
Lep |
leptin |
severity |
ISO |
|
RGD |
PMID:18353734 |
RGD:5128819 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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|
G |
LOC299277 |
similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B |
severity |
ISO |
|
RGD |
PMID:11120905 |
RGD:5147439 |
NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
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|
G |
Lta |
lymphotoxin alpha |
severity |
ISO |
DNA:polymorphism, haplotype: :252A>G (human) |
RGD |
PMID:21993476 |
RGD:6767553 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
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|
G |
Mbl2 |
mannose binding lectin 2 |
severity |
ISO |
protein:decreased secretion:serum (human) ClinVar Annotator: match by term: Cystic fibrosis DNA:polymorphisms:5' utr, exon:multiple (human) |
ClinVar |
PMID:7707811 PMID:8206524 PMID:10071515 PMID:10449435 PMID:15674393 PMID:16912583 PMID:18292811 PMID:20068595 PMID:22323042 PMID:22377282 PMID:22940091 PMID:24753481 PMID:25178872, PMID:16879250, PMID:10449435 |
RGD:4889443, RGD:4889447 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Mif |
macrophage migration inhibitory factor |
severity |
ISO |
DNA:repeats:promoter |
RGD |
PMID:16179637 |
RGD:4891053 |
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:serum |
RGD |
PMID:27689251 |
RGD:25671378 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:bronchoalveolar lavage fluid protein:increased expression:serum |
RGD |
PMID:17526676, PMID:25545245 |
RGD:5130723, RGD:13204794 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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|
G |
Mpo |
myeloperoxidase |
severity |
ISO |
DNA:polymorphism:promoter:-463G>A (human) |
RGD |
PMID:20954832, PMID:16883063 |
RGD:5130986, RGD:5130968 |
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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G |
Muc1 |
mucin 1, cell surface associated |
|
IEP |
protein:increased expression:serum |
RGD |
PMID:19960788 |
RGD:5131272 |
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
IEP |
mRNA:increased expression:nasal mucosa |
RGD |
PMID:9155717 |
RGD:5131426 |
NCBI chr 1:214,663,929...214,693,197
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|
G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:17255563 |
RGD:5131191 |
NCBI chr 1:214,725,482...214,756,653
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|
G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
protein:altered glycosylation:saliva |
RGD |
PMID:17255563, PMID:11845304 |
RGD:5131191, RGD:5131194 |
NCBI chr 1:214,778,459...214,811,237
Ensembl chr 1:214,778,496...214,810,720
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|
G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:20309575 |
RGD:7364748 |
NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938
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|
G |
Ndufs1 |
NADH:ubiquinone oxidoreductase core subunit S1 |
|
ISO |
protein:increased oxidation:colonic epithelium, mitochondrion (mouse) |
RGD |
PMID:21518732 |
RGD:6484688 |
NCBI chr 9:69,919,863...69,953,182
Ensembl chr 9:69,919,867...69,953,182
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|
G |
Nos1 |
nitric oxide synthase 1 |
disease_progression |
ISO |
mRNA:decreased expression:lung DNA:repeats:5'utr |
RGD |
PMID:12064512, PMID:14760158, PMID:11890749 |
RGD:5132865, RGD:5132627, RGD:5132868 |
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
mRNA,protein:decreased expression:respiratory mucosa |
RGD |
PMID:16517573 |
RGD:4891958 |
NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
DNA:polymorphism:exon: c. 894G>T (human) |
RGD |
PMID:12406848 |
RGD:4892049 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Plg |
plasminogen |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099 |
|
NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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G |
Ppara |
peroxisome proliferator activated receptor alpha |
|
ISO |
mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes (human) |
RGD |
PMID:16875506 |
RGD:5683626 |
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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G |
Prss1 |
serine protease 1 |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:8625754 |
RGD:1599967 |
NCBI chr 4:70,776,046...70,779,249
Ensembl chr 4:70,776,046...70,779,249
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G |
Ptgdr2 |
prostaglandin D2 receptor 2 |
|
ISO |
|
RGD |
PMID:18334635 |
RGD:5135022 |
NCBI chr 1:226,976,455...226,995,641
Ensembl chr 1:226,993,250...226,994,849
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
DNA:SNPs: :-765G>C and 8473T>C (human) protein:increased expression:nasal mucosa |
RGD |
PMID:20720307, PMID:18711055 |
RGD:5135298, RGD:5135523 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Ptx3 |
pentraxin 3 |
susceptibility |
ISO |
DNA:SNP:exon:rs35948036(human) |
RGD |
PMID:20927127 |
RGD:35673347 |
NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
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G |
RT1-M3-1 |
RT1 class Ib, locus M3, gene 1 |
|
ISO |
mRNA:decreased expression::decreased clearance of pathogens? |
RGD |
PMID:20044437 |
RGD:5144066 |
NCBI chr20:1,814,661...1,833,033
Ensembl chr20:1,814,661...1,818,800
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15077107 PMID:19462466 |
|
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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G |
Scnn1b |
sodium channel epithelial 1 subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16207733 PMID:16463024 |
|
NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
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G |
Scnn1g |
sodium channel epithelial 1 subunit gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16463024 |
|
NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
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G |
Serpina1 |
serpin family A member 1 |
|
ISO |
ClinVar Annotator: match by term: Cystic fibrosis |
ClinVar |
PMID:301355 PMID:1082356 PMID:1889260 PMID:2567291 PMID:6093867 PMID:6602622 PMID:8970361 PMID:10194472 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16608528 PMID:18565211 PMID:18566672 PMID:19956452 PMID:20301692 PMID:20981092 PMID:22426792 PMID:22933512 PMID:22975760 PMID:23632999 PMID:23837941 PMID:24033266 PMID:24055113 PMID:25454901 PMID:25741868 PMID:26141072 PMID:26672964 PMID:26831755 PMID:27465791 PMID:28492532 PMID:30585791 |
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NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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G |
Serpina3n |
serine (or cysteine) peptidase inhibitor, clade A, member 3N |
severity |
ISO |
|
RGD |
PMID:11120905 |
RGD:5147439 |
NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
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G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:15271694 |
RGD:4143403 |
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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G |
Sftpb |
surfactant protein B |
|
ISO |
mRNA:increased expression:respiratory system mucosa |
RGD |
PMID:17507829 |
RGD:4143381 |
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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G |
Sftpc |
surfactant protein C |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:15271694 |
RGD:4143403 |
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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G |
Sftpd |
surfactant protein D |
|
ISO |
protein:decreased expression, altered degradation:lung |
RGD |
PMID:18211966 |
RGD:4143502 |
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
protein:increased expression:lung ClinVar Annotator: match by OMIM:219700 |
ClinVar OMIM |
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868, PMID:19830844 |
RGD:4145125 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:25545245 |
RGD:13204794 |
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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G |
Tlr4 |
toll-like receptor 4 |
severity |
ISO |
protein:increased expression:monocyte |
RGD |
PMID:20717938, PMID:20522639 |
RGD:4144105, RGD:4144179 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tlr5 |
toll-like receptor 5 |
resistance |
ISO |
protein:increased expression:lung, sputum, neutrophil (human) DNA:snp:cds:c.1174C>T rs5744168 (human) |
RGD |
PMID:18684966, PMID:21068401 |
RGD:5129506, RGD:5129499 |
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
DNA:snps:multiple (human) |
RGD |
PMID:20837493 |
RGD:5130208 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnf |
tumor necrosis factor |
severity |
ISO |
protein:increased expression:sputum DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human) |
RGD |
PMID:7537567, PMID:21993476 |
RGD:4142846, RGD:6767553 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16463024 |
|
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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G |
Slc26a9 |
solute carrier family 26 member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22466613 |
|
NCBI chr13:48,512,415...48,539,467
Ensembl chr13:48,513,008...48,539,467
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G |
Slc6a14 |
solute carrier family 6 member 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22466613 |
|
NCBI chr X:120,624,522...120,647,964
Ensembl chr X:120,624,518...120,649,111
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G |
Slc9a3 |
solute carrier family 9 member A3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22466613 |
|
NCBI chr 1:31,731,652...31,777,144
Ensembl chr 1:31,734,327...31,777,070
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|
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
|
ISO |
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar Annotator: match by OMIM:194380 |
OMIM ClinVar |
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23695678 PMID:24033266 PMID:25741868 PMID:28716860 PMID:29576450 |
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NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
|
ISO |
ClinVar Annotator: match by term: DEND syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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G |
Ighmbp2 |
immunoglobulin mu DNA binding protein 2 |
|
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 ClinVar Annotator: match by OMIM:604320 |
ClinVar OMIM |
PMID:234316 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15248100 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:21353777 PMID:21902652 PMID:22157136 PMID:22791546 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26709713 PMID:26922252 PMID:27450922 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28492532 PMID:28902413 PMID:29858556 PMID:30598237 PMID:32488064, PMID:11528396 |
RGD:737748 |
NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
susceptibility |
ISO IMP |
ClinVar Annotator: match by term: Dubin-Johnson syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:237500 |
ClinVar CTD OMIM |
PMID:9185779 PMID:9425227 PMID:9878557 PMID:10053008 PMID:10464142 PMID:11266082 PMID:11477083 PMID:11901087 PMID:12388192 PMID:12395335 PMID:12942343 PMID:15180328 PMID:15519273 PMID:15821043 PMID:16012956 PMID:16847695 PMID:16952291 PMID:18334920 PMID:18445995 PMID:18673259 PMID:18974617 PMID:20799350 PMID:20849526 PMID:20981092 PMID:21044052 PMID:21449672 PMID:21691255 PMID:22290738 PMID:22318656 PMID:23557583 PMID:24033266 PMID:25087612 PMID:25111166 PMID:25336012 PMID:25741868 PMID:27604170 PMID:27706244 PMID:27882152 PMID:28492532 PMID:28713894, PMID:10053008, PMID:8599091 |
RGD:1598616, RGD:69812 |
NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
|
IEP |
|
RGD |
PMID:14731123 |
RGD:1598620 |
NCBI chr10:82,047,308...82,116,928
Ensembl chr10:82,047,863...82,117,109
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G |
Rdx |
radixin |
|
ISS |
OMIM:237500 |
MouseDO |
|
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NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
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G |
Slco1a1 |
solute carrier organic anion transporter family, member 1a1 |
|
IEP |
|
RGD |
PMID:14731123 |
RGD:1598620 |
NCBI chr 4:176,158,174...176,231,331
Ensembl chr 4:176,158,640...176,231,344
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G |
Slco1a4 |
solute carrier organic anion transporter family, member 1a4 |
|
IEP |
|
RGD |
PMID:14731123 |
RGD:1598620 |
NCBI chr 4:175,969,549...176,026,227
Ensembl chr 4:175,969,549...176,026,163
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G |
Col7a1 |
collagen type VII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Epidermolytic hyperkeratosis |
ClinVar |
|
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NCBI chr 8:117,694,441...117,726,844
Ensembl chr 8:117,694,605...117,726,844
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17050553 |
|
NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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G |
Gjb3 |
gap junction protein, beta 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16297190 |
|
NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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G |
Gjb4 |
gap junction protein, beta 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16297190 |
|
NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
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G |
Jup |
junction plakoglobin |
|
ISS |
OMIM:113800 |
MouseDO |
|
|
NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
|
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G |
Krt1 |
keratin 1 |
susceptibility |
ISO |
DNA:mutation: ; 5191/5192GG>A ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma ClinVar Annotator: match by OMIM:113800 |
ClinVar OMIM |
PMID:1284546 PMID:1380725 PMID:1381288 PMID:7512983 PMID:11531804 PMID:11559215 PMID:12406348 PMID:28492532, PMID:11286616 |
RGD:1600166 |
NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
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G |
Krt10 |
keratin 10 |
susceptibility |
ISO |
DNA:mutations:cds: p.R156C (human) ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma ClinVar Annotator: match by OMIM:113800 |
ClinVar OMIM |
PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7512983 PMID:7526210 PMID:16505000 PMID:18219278 PMID:19474805 PMID:20302579 PMID:25741868, PMID:7512983 |
RGD:1600168 |
NCBI chr10:87,296,445...87,301,307
Ensembl chr10:87,296,451...87,300,736
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G |
Krt1 |
keratin 1 |
|
ISO |
ClinVar Annotator: match by null |
ClinVar |
PMID:12648226 |
|
NCBI chr 7:143,448,318...143,453,544
Ensembl chr 7:143,448,318...143,453,544
|
|
|
G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
OMIM ClinVar |
PMID:1021286 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:10993895 PMID:11018078 PMID:11226335 PMID:11272143 PMID:11395395 PMID:11457841 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12169627 PMID:12199344 PMID:12364426 PMID:12559865 PMID:12627323 PMID:12784138 PMID:12941782 PMID:14593442 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15561897 PMID:15562009 PMID:15579781 PMID:15807877 PMID:15842514 PMID:16186397 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16860127 PMID:16969006 PMID:17236890 PMID:17378627 PMID:17384337 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17668386 PMID:17919176 PMID:17990484 PMID:18025408 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18390792 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18988933 PMID:19151370 PMID:19475716 PMID:20042013 PMID:20427569 PMID:20432820 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21214702 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21544516 PMID:21617188 PMID:21674179 PMID:21716120 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21992908 PMID:22210575 PMID:22308858 PMID:22562119 PMID:22662265 PMID:22704848 PMID:22796691 PMID:22802590 PMID:22855730 PMID:22876564 PMID:22902787 PMID:23067144 PMID:23226049 PMID:23261959 PMID:23266803 PMID:23273570 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:23771920 PMID:23798684 PMID:23903354 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24080777 PMID:24145932 PMID:24332968 PMID:24401662 PMID:24411943 PMID:24434300 PMID:24616771 PMID:24645945 PMID:24686051 PMID:24750227 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25639667 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25781672 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26545876 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27573238 PMID:27682711 PMID:27691052 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:28018462 PMID:28095440 PMID:28270372 PMID:28346775 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28701683 PMID:29207974 PMID:29216354 PMID:29644095 PMID:30186238 PMID:30297969 PMID:30352420 PMID:30386300 PMID:30447144 PMID:30462810 PMID:31604004 PMID:32027066 |
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NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 |
ClinVar |
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852 |
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NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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G |
Kcnj11 |
potassium inwardly-rectifying channel, subfamily J, member 11 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 2 |
OMIM ClinVar |
PMID:9867219 PMID:11318841 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16455067 PMID:16595597 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:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22385882 PMID:22704848 PMID:22992668 PMID:24442125 PMID:25115353 PMID:25741868 PMID:26467025 PMID:29681852 |
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NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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G |
Gck |
glucokinase |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 ClinVar Annotator: match by OMIM:602485 |
OMIM ClinVar |
PMID:7555485 PMID:8068341 PMID:8349034 PMID:8433729 PMID:8454109 PMID:9435328 PMID:9469993 PMID:10447526 PMID:11315850 PMID:11315851 PMID:11916951 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:15277402 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16963153 PMID:16965331 PMID:17573900 PMID:18271687 PMID:19790256 PMID:20132997 PMID:21604084 PMID:22493702 PMID:22611063 PMID:24097065 PMID:24518839 PMID:24728127 PMID:25015100 PMID:25741868 PMID:25850297 PMID:26467025 PMID:28492532 |
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NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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G |
Hadh |
hydroxyacyl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by OMIM:609975 ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 |
ClinVar OMIM |
PMID:904979 PMID:11489939 PMID:14693719 PMID:19318379 PMID:21252247 PMID:22662265 PMID:23273570 PMID:25741868 PMID:27104957 PMID:28492532 |
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NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
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G |
Insr |
insulin receptor |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency |
ClinVar |
PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 |
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NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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G |
Insr |
insulin receptor |
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ISO |
ClinVar Annotator: match by OMIM:609968 |
OMIM ClinVar |
PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 |
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NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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G |
Glud1 |
glutamate dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar Annotator: match by OMIM:606762 |
OMIM ClinVar |
PMID:9469993 PMID:9571255 PMID:9843361 PMID:10636977 PMID:10871207 PMID:11214910 PMID:18414213 PMID:18928469 PMID:19046187 PMID:23869231 PMID:25008049 PMID:25741868 PMID:26467025 PMID:26759084 PMID:27188453 PMID:28165182 PMID:28492532 PMID:30306091 PMID:30352420 PMID:30425915 |
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NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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G |
Shld2 |
shieldin complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
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G |
Slc16a1 |
solute carrier family 16 member 1 |
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ISO |
ClinVar Annotator: match by term: Exercise-induced hyperinsulinism ClinVar Annotator: match by term: Exercise-induced hyperinsulinemic hypoglycemia ClinVar Annotator: match by OMIM:610021 |
OMIM ClinVar |
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 PMID:25741868 PMID:25741869 PMID:26595136 PMID:28492532 |
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NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
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G |
Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial |
ClinVar |
PMID:25741868 |
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NCBI chr 1:198,420,813...198,448,612
Ensembl chr 1:198,420,806...198,450,047
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Convulsions, infantile, with paroxysmal choreoathetosis, familial ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial ClinVar Annotator: match by null |
OMIM ClinVar |
PMID:11179027 PMID:22101681 PMID:22120146 PMID:22131361 PMID:22209761 PMID:22243967 PMID:22399141 PMID:22623405 PMID:22744660 PMID:22782515 PMID:22832103 PMID:22845787 PMID:22870186 PMID:22875091 PMID:22877996 PMID:22985072 PMID:23077017 PMID:23077024 PMID:23077026 PMID:23126439 PMID:23180180 PMID:23182655 PMID:23299620 PMID:23343561 PMID:23352743 PMID:23532549 PMID:23535490 PMID:23768507 PMID:23771590 PMID:24074546 PMID:24370076 PMID:24465263 PMID:24609974 PMID:24661410 PMID:25457817 PMID:25502464 PMID:25522171 PMID:25595153 PMID:25667652 PMID:25741868 PMID:25915028 PMID:26384010 PMID:26446061 PMID:26467025 PMID:26544041 PMID:26561923 PMID:26598493 PMID:26598494 PMID:26621826 PMID:26717662 PMID:26876767 PMID:26993267 PMID:27123484 PMID:27173777 PMID:28074849 PMID:28492532 PMID:29334453 |
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NCBI chr 1:198,451,042...198,454,998
Ensembl chr 1:198,451,324...198,454,914
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G |
Ermap |
erythroblast membrane associated protein (Scianna blood group) |
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ISO |
ClinVar Annotator: match by term: Radin blood group |
ClinVar |
PMID:12393480 |
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NCBI chr 5:138,227,168...138,240,509
Ensembl chr 5:138,227,855...138,239,306
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
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ISO |
DNA:polymorphism: : |
RGD |
PMID:19129718 |
RGD:11100009 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Slc29a1 |
solute carrier family 29 member 1 |
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ISO |
ClinVar Annotator: match by term: Fetal Erythroblastosis |
ClinVar |
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NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
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G |
Atoh7 |
atonal bHLH transcription factor 7 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:28492532 PMID:31696227 |
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NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
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G |
Nrl |
neural retina leucine zipper |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:25741868 |
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NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
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G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:31696227 |
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NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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G |
Slc38a8 |
solute carrier family 38, member 8 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:24045842 |
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NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
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G |
Tyr |
tyrosinase |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 |
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NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
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G |
Slc38a8 |
solute carrier family 38, member 8 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia 2 ClinVar Annotator: match by OMIM:609218 ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis |
OMIM ClinVar |
PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 |
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NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
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G |
Lbr |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Greenberg dysplasia ClinVar Annotator: match by OMIM:215140 DNA:mutations:cds:multiple (human) |
OMIM ClinVar |
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532, PMID:21327084 |
RGD:9588626 |
NCBI chr13:100,431,390...100,450,209
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G |
Gjb2 |
gap junction protein, beta 2 |
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ISO |
ClinVar Annotator: match by term: HID SYNDROME ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness ClinVar Annotator: match by OMIM:602540 |
OMIM ClinVar |
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10807696 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11556849 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:12072059 PMID:12081719 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:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786758 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14520102 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14738110 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15482471 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16532460 PMID:16645853 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16950989 PMID:16952406 PMID:17018967 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17444514 PMID:17485979 PMID:17553572 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18294064 PMID:18353197 PMID:18414213 PMID:18560174 PMID:18570691 PMID:18607988 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:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19384972 PMID:19465004 PMID:19586875 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19877196 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20096468 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20497192 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21056478 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21281533 PMID:21287563 PMID:21298213 PMID:21366436 PMID:21392827 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21728791 PMID:21776002 PMID:21811586 PMID:21815880 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22389666 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22567861 PMID:22574200 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22937313 PMID:22975760 PMID:22981120 PMID:22995991 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23554706 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23804846 PMID:23808595 PMID:23826813 PMID:23856378 PMID:23873582 PMID:23900770 PMID:23967136 PMID:24033266 PMID:24039984 PMID:24078562 PMID:24123366 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24624091 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24814571 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25162826 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25288386 PMID:25326637 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26467025 PMID:26482070 PMID:26542351 PMID:26553399 PMID:26681637 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26832775 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27057829 PMID:27063752 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27466889 PMID:27480936 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27623246 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28000701 PMID:28008688 PMID:28222800 PMID:28271504 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29148562 PMID:29362677 PMID:29501291 PMID:29921236 PMID:30094485 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30466042 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31370293 PMID:31569309 PMID:31620696 PMID:31992338 PMID:32090102 PMID:115556849 PMID:163800907 |
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NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
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RGD |
PMID:8981909 |
RGD:4144850 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Sftpa1 |
surfactant protein A1 |
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ISO |
ClinVar Annotator: match by term: Respiratory distress associated with prematurity |
ClinVar |
PMID:24033266 PMID:25741868 |
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NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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G |
Sftpc |
surfactant protein C |
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ISO |
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RGD |
PMID:9655740 |
RGD:4143444 |
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) |
RGD |
PMID:9097971 |
RGD:1599716 |
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
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RGD |
PMID:22426483 |
RGD:8549773 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Kdr |
kinase insert domain receptor |
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ISO |
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RGD |
PMID:22426483 |
RGD:8549773 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:17195148 |
RGD:11036098 |
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19911200 |
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NCBI chr18:61,758,754...62,013,194
Ensembl chr18:61,759,289...61,788,863
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G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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G |
Ctsa |
cathepsin A |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 3:161,298,750...161,304,627
Ensembl chr 3:161,298,962...161,304,625
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G |
Dnah14 |
dynein axonemal heavy chain 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:99,886,373...100,072,674 NCBI chr13:101,936,210...101,973,640
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G |
Fzd6 |
frizzled class receptor 6 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 7:77,898,329...77,931,034
Ensembl chr 7:77,899,322...77,931,029
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G |
Galnt14 |
polypeptide N-acetylgalactosaminyltransferase 14 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr 6:24,770,308...24,985,711
Ensembl chr 6:24,770,317...24,985,716
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G |
Gusb |
glucuronidase, beta |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis ClinVar Annotator: match by term: Hydrops fetalis, non-immune |
ClinVar |
PMID:1702266 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 |
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NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
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G |
Hba-a3 |
hemoglobin alpha, adult chain 3 |
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ISO |
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME |
ClinVar |
PMID:9029003 PMID:11722414 |
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NCBI chr10:15,577,249...15,577,977
Ensembl chr10:15,577,249...15,577,977
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G |
Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis, non-immune |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:7881431 PMID:9300653 PMID:25741868 PMID:31680349 |
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NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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G |
Myo18a |
myosin XVIIIa |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 |
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NCBI chr10:64,979,770...65,080,535
Ensembl chr10:64,979,770...65,080,535
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G |
Myom1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 PMID:28492532 |
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NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
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G |
Neb |
nebulin |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:18330676 PMID:25205138 PMID:26036949 PMID:26841830 PMID:28492532 |
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NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
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G |
Neu1 |
neuraminidase 1 |
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ISO |
ClinVar Annotator: match by term: Fetal edema |
ClinVar |
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NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:25741868 PMID:30244526 PMID:31680349 |
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NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
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G |
Rapsn |
receptor-associated protein of the synapse |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:10449659 PMID:25741868 PMID:31680349 |
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NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
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G |
RGD1309106 |
similar to hypothetical protein |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25741868 PMID:26633545 PMID:28492532 PMID:31680349 |
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NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
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G |
Sftpa1 |
surfactant protein A1 |
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ISO |
protein:decreased expression:lung |
RGD |
PMID:7590701 |
RGD:4143453 |
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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G |
Slc26a3 |
solute carrier family 26 member 3 |
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ISO |
ClinVar Annotator: match by term: Hydrops fetalis |
ClinVar |
PMID:9718329 PMID:21394828 PMID:25741868 PMID:31680349 |
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NCBI chr 6:50,725,085...50,766,306
Ensembl chr 6:50,725,085...50,766,300
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
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G |
Ubn1 |
ubinuclein 1 |
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ISO |
ClinVar Annotator: match by term: Non-immune hydrops fetalis |
ClinVar |
PMID:26036949 |
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NCBI chr10:10,690,224...10,725,655
Ensembl chr10:10,690,224...10,725,655
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by OMIM:617021 ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
ClinVar OMIM |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 |
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NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
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ISO |
ClinVar Annotator: match by OMIM:237900 ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia ClinVar Annotator: match by term: Hyperbilirubinemia transient familial neonatal |
ClinVar OMIM |
PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 |
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NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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G |
Ugt1a2 |
UDP glucuronosyltransferase 1 family, polypeptide A2 |
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ISO |
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia |
ClinVar |
PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 |
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NCBI chr 9:95,285,592...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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G |
Ugt1a3 |
UDP glycosyltransferase 1 family, polypeptide A3 |
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ISO |
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia |
ClinVar |
PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 |
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NCBI chr 9:95,274,707...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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G |
Ugt1a5 |
UDP glucuronosyltransferase family 1 member A5 |
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ISO |
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia |
ClinVar |
PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 |
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NCBI chr 9:95,256,628...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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G |
Ugt1a6 |
UDP glucuronosyltransferase family 1 member A6 |
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ISO |
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia |
ClinVar |
PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 |
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NCBI chr 9:95,241,609...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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G |
Ugt1a8 |
UDP glucuronosyltransferase family 1 member A8 |
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ISO |
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia |
ClinVar |
PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:11061796 PMID:11156391 PMID:11182932 PMID:12181437 PMID:12208142 PMID:12502904 PMID:15304120 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:16636344 PMID:17627617 PMID:17850628 PMID:18004206 PMID:18221820 PMID:18414213 PMID:19243019 PMID:19299905 PMID:19325249 PMID:19390945 PMID:22325916 PMID:22514612 PMID:22983686 PMID:22992668 PMID:23014115 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033692 PMID:24308720 PMID:24390994 PMID:24448639 PMID:24519753 PMID:25285015 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26229432 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:26862009 PMID:27220761 PMID:27385990 PMID:28367249 PMID:28492532 PMID:28520360 PMID:28585035 |
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NCBI chr 9:95,221,474...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
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