RGD DISEASE ONTOLOGY - ANNOTATIONS
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.
Term: Infant, Newborn, Diseases
Accession: DOID:9003548
browse the term
Definition: Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.
Synonyms: exact_synonym: Neonatal Disease; Neonatal Diseases
broad_synonym: perinatal disease
primary_id: MESH:D007232
alt_id: RDO:0004815
xref: EFO:0010238
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Fkbp5
FKBP prolyl isomerase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25115650
NCBI chr20:6,457,207...6,575,404
Ensembl chr20:6,457,216...6,541,674
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29483653
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Ada
adenosine deaminase
ISO ISS
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency OMIM:102700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM ClinVar MouseDO CTD
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 PMID:1680289 PMID:1696926 PMID:1925539 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3007108 PMID:3182793 PMID:3366897 PMID:3475710 PMID:3684597 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8031011 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8614422 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:10200056 PMID:11067872 PMID:11157502 PMID:11160213 PMID:11313286 PMID:11354825 PMID:11807006 PMID:14499267 PMID:16199547 PMID:16276484 PMID:16825284 PMID:17001642 PMID:17181544 PMID:17185467 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19665771 PMID:19830125 PMID:20039061 PMID:20544538 PMID:21228398 PMID:21410451 PMID:21624848 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23260757 PMID:23348723 PMID:24033266 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25875700 PMID:25954555 PMID:26255240 PMID:26376800 PMID:26467025 PMID:27095930 PMID:27129325 PMID:27484032 PMID:27872624 PMID:28266921 PMID:28346229 PMID:28492532 PMID:28747913 PMID:29744787 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:31319225 PMID:31589898 PMID:31681265 PMID:31781678 PMID:31858364 PMID:32135276 PMID:32245326 PMID:32307643 PMID:32445296 PMID:32888943 PMID:33628209 PMID:33975924 PMID:34502390 PMID:34975878 PMID:36685585 More...
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiency
ClinVar
PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 More...
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Bubble boy disease
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Bubble boy disease ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar
PMID:8810255 PMID:9630231 PMID:10635319 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20956421 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31632441 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET
ClinVar
PMID:11782540 PMID:16818505 PMID:17606709 PMID:20407015 PMID:21343334 PMID:21519010 PMID:22186996 PMID:22915647 PMID:23246812 PMID:25326637 PMID:25741868 PMID:25952993 PMID:26010451 PMID:26230955 PMID:26467025 PMID:26585234 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:30327374 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis
ClinVar
PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 PMID:31046801 More...
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Annular epidermolytic ichthyosis
CTD ClinVar
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22035476 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt10
keratin 10
ISO
OMIM
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2
OMIM ClinVar
PMID:10053007 PMID:15214894 PMID:16227096 PMID:22250628 PMID:25741868 PMID:28492532 PMID:30152556 PMID:33081034 More...
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Asphyxia neonatorum
ClinVar
PMID:8364588 PMID:25741868
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
IEP
mRNA:increased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc3
ERCC excision repair 3, TFIIH core complex helicase subunit
IEP
mRNA:decreased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr18:23,883,613...23,914,326
Ensembl chr18:23,883,580...23,914,329
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:21058530
RGD:12792218
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Htra2
HtrA serine peptidase 2
treatment
IEP
protein:increased expression:kidney:
RGD
PMID:20704803
RGD:10402931
NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
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Map2
microtubule-associated protein 2
IEP
RGD
PMID:21858873
RGD:6483085
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Pdia3
protein disulfide isomerase family A, member 3
IEP
protein:increased expression:hippocampus:
RGD
PMID:15453273
RGD:9999183
NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
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Psen1
presenilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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Psen2
presenilin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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S100b
S100 calcium binding protein B
ISO
protein:increased expression:urine
RGD
PMID:14707571
RGD:5508819
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963755
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Xrcc1
X-ray repair cross complementing 1
IEP
mRNA:increased expression:brain
RGD
PMID:9763211
RGD:2302855
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Lrp1
LDL receptor related protein 1
ISO
ClinVar Annotator: match by term: Atrophoderma vermiculata
ClinVar
PMID:26142438
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Gjb2
gap junction protein, beta 2
ISO ISS
p.S17F(mouse) ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM:148210 CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.D50N (human) p.G45E(mouse) DNA:mutation:cds:p.N14K(human) DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar MouseDO CTD OMIM RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12752120 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14700667 PMID:14722929 PMID:14735592 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 PMID:15359540 PMID:15365987 PMID:15464305 PMID:15464308 PMID:15479191 PMID:15488970 PMID:15504600 PMID:15547422 PMID:15547423 PMID:15577772 PMID:15592461 PMID:15617546 PMID:15617550 PMID:15633193 PMID:15656949 PMID:15666300 PMID:15700112 PMID:15744158 PMID:15769851 PMID:15790391 PMID:15832357 PMID:15855033 PMID:15937416 PMID:15954104 PMID:15964725 PMID:15967879 PMID:16076412 PMID:16077952 PMID:16088916 PMID:16125251 PMID:16154643 PMID:16217030 PMID:16222667 PMID:16300957 PMID:16336662 PMID:16379178 PMID:16379542 PMID:16380907 PMID:16467727 PMID:16532460 PMID:16545002 PMID:16650079 PMID:16712961 PMID:16773579 PMID:16840571 PMID:16849369 PMID:16864573 PMID:16868655 PMID:16885744 PMID:16950989 PMID:16952406 PMID:17036313 PMID:17041943 PMID:17146393 PMID:17146396 PMID:17253936 PMID:17330861 PMID:17331080 PMID:17357124 PMID:17366579 PMID:17406097 PMID:17426645 PMID:17428550 PMID:17428836 PMID:17431919 PMID:17444514 PMID:17485979 PMID:17505205 PMID:17553572 PMID:17576681 PMID:17581693 PMID:17660464 PMID:17661817 PMID:17666888 PMID:17935238 PMID:17993581 PMID:18024254 PMID:18196482 PMID:18294064 PMID:18324688 PMID:18414213 PMID:18451998 PMID:18560174 PMID:18570691 PMID:18668259 PMID:18684989 PMID:18776652 PMID:18804553 PMID:18843290 PMID:18925674 PMID:18941476 PMID:18983339 PMID:18985073 PMID:18987669 PMID:18988928 PMID:19027181 PMID:19043807 PMID:19050930 PMID:19072567 PMID:19081147 PMID:19125024 PMID:19157576 PMID:19173109 PMID:19230829 PMID:19235794 PMID:19366456 PMID:19371219 PMID:19375528 PMID:19465004 PMID:19587431 PMID:19707039 PMID:19715472 PMID:19719946 PMID:19723508 PMID:19775242 PMID:19814620 PMID:19887791 PMID:19925344 PMID:19929407 PMID:19929408 PMID:19941053 PMID:20022641 PMID:20059378 PMID:20073550 PMID:20083784 PMID:20086291 PMID:20086306 PMID:20095872 PMID:20101161 PMID:20146813 PMID:20154630 PMID:20201936 PMID:20233142 PMID:20234132 PMID:20236118 PMID:20301449 PMID:20381175 PMID:20407643 PMID:20412116 PMID:20441744 PMID:20497192 PMID:20553101 PMID:20563649 PMID:20593197 PMID:20607074 PMID:20650534 PMID:20668687 PMID:20708129 PMID:20739944 PMID:20815033 PMID:20863150 PMID:20956747 PMID:20981092 PMID:21094084 PMID:21112098 PMID:21122151 PMID:21131880 PMID:21162657 PMID:21198395 PMID:21220926 PMID:21281533 PMID:21287563 PMID:21292415 PMID:21298213 PMID:21298644 PMID:21366436 PMID:21465647 PMID:21468573 PMID:21481246 PMID:21488715 PMID:21738759 PMID:21776002 PMID:21777984 PMID:21811586 PMID:21836520 PMID:21844220 PMID:21910243 PMID:21962949 PMID:22000900 PMID:22011219 PMID:22016077 PMID:22031297 PMID:22037723 PMID:22103400 PMID:22106692 PMID:22281373 PMID:22384008 PMID:22429511 PMID:22450542 PMID:22498363 PMID:22567152 PMID:22567369 PMID:22574200 PMID:22592158 PMID:22613756 PMID:22643125 PMID:22668073 PMID:22695344 PMID:22701767 PMID:22747691 PMID:22785241 PMID:22796187 PMID:22808909 PMID:22855627 PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24611097 PMID:24645897 PMID:24654934 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27087580 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27761313 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34008892 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 PMID:20926451 PMID:23924173 PMID:22031297 PMID:18950394 PMID:20307501 More...
RGD:7364809 , RGD:7364885 , RGD:7364889 , RGD:7364813 , RGD:7364811
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Abca12
ATP binding cassette subfamily A member 12
ISO
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:9536098 PMID:15756637 PMID:17508018 PMID:17576681 PMID:17684380 PMID:19262603 PMID:20672373 PMID:20849526 PMID:22992804 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:30916489 PMID:31168818 PMID:31586585 PMID:32293521 PMID:32707200 More...
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:9536098 PMID:16116617 PMID:16199547 PMID:17139268 PMID:17576681 PMID:18347291 PMID:19131948 PMID:19890349 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29687370 PMID:31046801 PMID:31168818 PMID:31642606 PMID:31953843 PMID:33255364 PMID:33435499 PMID:33726816 PMID:34008892 PMID:34379964 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:11398099 PMID:11773004 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29130490 PMID:29935003 PMID:30270455 PMID:30578701 PMID:31168818 PMID:33435499 PMID:33786896 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Cers3
ceramide synthase 3
ISO
ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:28875980 PMID:30578701 PMID:33492757
NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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Cyp4f39
cytochrome P450, family 4, subfamily f, polypeptide 39
ISO
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:16436457 PMID:23621129 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:27025581 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33786896 More...
NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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Ebp
EBP, cholestenol delta-isomerase
ISO
RGD
PMID:12668600
RGD:2316868
NCBI chr X:14,299,427...14,305,826
Ensembl chr X:14,299,448...14,305,826
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
trichothiodystrophy,OMIM:601675;DNA:point mutation:exon:A725P
RGD
PMID:9195225
RGD:1601069
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Nipal4
NIPA-like domain containing 4
ISO
ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22098531 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29444371 PMID:29453417 PMID:31046801 PMID:31168818 PMID:31347739 PMID:31532840 PMID:33786896 PMID:34908195 PMID:35412663 PMID:35734965 More...
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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Nsdhl
NAD(P) dependent steroid dehydrogenase-like
ISO
RGD
PMID:12668600
RGD:2316868
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Pnpla1
patatin-like phospholipase domain containing 1
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:3757302 PMID:22246504 PMID:24344921 PMID:25741868 PMID:26691440 PMID:26778108 PMID:28093717 PMID:28369476 PMID:28403545 PMID:28492532 PMID:30578701 PMID:32147742 PMID:33786896 PMID:33969388 PMID:35970721 More...
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
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Sdr9c7
short chain dehydrogenase/reductase family 9C, member 7
ISO
ClinVar Annotator: match by term: Congenital ichthyosis of skin | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:25741868 PMID:28369735 PMID:28492532 PMID:28906551 PMID:31012992 PMID:31633189 PMID:31642606 PMID:31671075 PMID:33422619 PMID:35822528 More...
NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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Slc27a4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 PMID:26783444 PMID:27025581 PMID:27224495 PMID:28492532 PMID:31595490 More...
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis
ClinVar
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10482949 PMID:10694685 PMID:10914678 PMID:11348475 PMID:11407995 PMID:11511296 PMID:12535215 PMID:12542526 PMID:14996130 PMID:16968736 PMID:18948357 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19278426 PMID:19863506 PMID:19890349 PMID:20167857 PMID:20663883 PMID:21668430 PMID:21895619 PMID:22258055 PMID:22437313 PMID:22622417 PMID:22801880 PMID:23096117 PMID:23192619 PMID:23278109 PMID:23895935 PMID:24033266 PMID:24314425 PMID:24419105 PMID:25154629 PMID:25525159 PMID:25741868 PMID:25766764 PMID:25998749 PMID:26076875 PMID:26594337 PMID:26762237 PMID:27025581 PMID:28403434 PMID:28492532 PMID:30578701 PMID:30693114 PMID:30950025 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 PMID:34908195 PMID:35506549 More...
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Ugcg
UDP-glucose ceramide glucosyltransferase
ISO
ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma
ClinVar
PMID:29417556
NCBI chr 5:74,032,978...74,065,701
Ensembl chr 5:74,032,978...74,065,393
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Abca12
ATP binding cassette subfamily A member 12
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16675967 PMID:12915478
RGD:1598548
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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Abhd5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
susceptibility
ISO
RGD
PMID:11590543
RGD:1598668
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21739938
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Aloxe3
arachidonate lipoxygenase 3
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21739938 PMID:11773004
RGD:1599073
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Sult2b1
sulfotransferase family 2B member 1
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1
ClinVar
PMID:28575648
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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Tgm1
transglutaminase 1
ISO ISS
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION | ClinVar Annotator: match by term: Lamellar ichthyosis, type 1 OMIM:242300 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 PMID:9326318 PMID:9359043 PMID:9457916 PMID:9536098 PMID:9545389 PMID:9593710 PMID:9887377 PMID:10232404 PMID:10482949 PMID:10694685 PMID:10886517 PMID:10914678 PMID:11064247 PMID:11251583 PMID:11298529 PMID:11348475 PMID:11407995 PMID:11511296 PMID:12535215 PMID:12542526 PMID:14996130 PMID:16133457 PMID:16199547 PMID:16280294 PMID:16908342 PMID:16968736 PMID:16977323 PMID:17576681 PMID:17635512 PMID:18669893 PMID:18948357 PMID:19156839 PMID:19212342 PMID:19241467 PMID:19262603 PMID:19278426 PMID:19486042 PMID:19500103 PMID:19863506 PMID:19890349 PMID:20021785 PMID:20137757 PMID:20167857 PMID:20301779 PMID:20522418 PMID:20663883 PMID:21199492 PMID:21668430 PMID:21895619 PMID:22211879 PMID:22258055 PMID:22311480 PMID:22435431 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:25808943 PMID:25998749 PMID:26076875 PMID:26220141 PMID:26451124 PMID:26594337 PMID:26620441 PMID:26762237 PMID:26990434 PMID:27025581 PMID:27442430 PMID:28403434 PMID:28488422 PMID:28492532 PMID:28747283 PMID:29653007 PMID:30302839 PMID:30578701 PMID:30600594 PMID:30693114 PMID:30950025 PMID:31046801 PMID:31168818 PMID:31631373 PMID:31953843 PMID:32105361 PMID:32573669 PMID:32597326 PMID:33786896 PMID:34782754 PMID:34908195 PMID:35412663 PMID:35506549 PMID:7824952 More...
RGD:1599417
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1
ClinVar
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10
ClinVar
PMID:9425895 PMID:19453707 PMID:23708187 PMID:24375629 PMID:25741868 PMID:25959266 PMID:26138355 PMID:26704558 PMID:27535030 PMID:28492532 PMID:28733343 PMID:29390993 PMID:29455050 PMID:29852413 PMID:31780880 PMID:32139178 PMID:32917465 PMID:34055682 PMID:34120799 PMID:35104249 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Pnpla1
patatin-like phospholipase domain containing 1
ISO ISS
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: PNPLA1-related condition OMIM:615024 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 PMID:25741868 PMID:26424960 PMID:26691440 PMID:26778108 PMID:27884173 PMID:27884779 PMID:28093717 PMID:28369476 PMID:28403545 PMID:28492532 PMID:29624231 PMID:30290227 PMID:30409984 PMID:30578701 PMID:31120544 PMID:32147742 PMID:33727708 PMID:33969388 PMID:34899144 PMID:35893253 PMID:35970721 More...
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
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St14
ST14 transmembrane serine protease matriptase
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9450882 PMID:12207612 PMID:17273967 PMID:18445049 PMID:18843291 PMID:25741868 PMID:28492532 PMID:29611532 More...
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Casp14
caspase 14
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12
OMIM CTD ClinVar
PMID:25741868 PMID:27494380 PMID:28492532
NCBI chr 7:10,929,759...10,932,591
Ensembl chr 7:10,926,725...10,933,405
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Sdr9c7
short chain dehydrogenase/reductase family 9C, member 7
ISO ISS
OMIM:617574 ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 | ClinVar Annotator: match by term: SDR9C7-related condition
OMIM MouseDO ClinVar
PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 PMID:31012992 PMID:31633189 PMID:31642606 PMID:31671075 PMID:33422619 PMID:35822528 More...
NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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Sult2b1
sulfotransferase family 2B member 1
ISO
ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 14
OMIM ClinVar
PMID:17496163 PMID:25741868 PMID:28492532 PMID:28575648
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: ALOX12B-related condition | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 PMID:17576681 PMID:18347291 PMID:18414213 PMID:19131948 PMID:19890349 PMID:20222929 PMID:22622417 PMID:23083690 PMID:23621129 PMID:24033266 PMID:25524567 PMID:25741868 PMID:25998749 PMID:26762237 PMID:26863999 PMID:27025581 PMID:28492532 PMID:29687370 PMID:31046801 PMID:31168818 PMID:31642606 PMID:31953843 PMID:32253496 PMID:33435499 PMID:33726816 PMID:34008892 PMID:34379964 PMID:35052464 PMID:36003334 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Aloxe3
arachidonate lipoxygenase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
CTD ClinVar
PMID:16116617 PMID:19131948 PMID:25741868 PMID:26370990 PMID:26762237 PMID:30578701 PMID:31046801 PMID:31168818 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Sult2b1
sulfotransferase family 2B member 1
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2
ClinVar
PMID:17496163 PMID:28575648
NCBI chr 1:96,200,155...96,261,295
Ensembl chr 1:96,200,156...96,261,295
G
Aloxe3
arachidonate lipoxygenase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3
OMIM CTD ClinVar
PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 PMID:19131948 PMID:19890349 PMID:21668430 PMID:22622417 PMID:24033266 PMID:24824130 PMID:25741868 PMID:25998749 PMID:26274329 PMID:26370990 PMID:26578203 PMID:26762237 PMID:27025581 PMID:28492532 PMID:30270455 PMID:30578701 PMID:31046801 PMID:31642606 PMID:32978145 PMID:33435499 PMID:33786896 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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Gucy2e
guanylate cyclase 2E
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3
ClinVar
PMID:24824130
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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Abca12
ATP binding cassette subfamily A member 12
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:16199547 PMID:16902423 PMID:19262603 PMID:19664001 PMID:20672373 PMID:21729033 PMID:22257947 PMID:22992804 PMID:23528209 PMID:25741868 PMID:27025581 PMID:28295493 PMID:28492532 PMID:29722424 PMID:29880184 PMID:29887490 PMID:30600594 PMID:30916489 PMID:31168818 PMID:32293521 PMID:32707200 PMID:32851342 PMID:36980989 More...
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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Abca12
ATP binding cassette subfamily A member 12
ISO ISS
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B OMIM:242500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10094194 PMID:12915478 PMID:15756637 PMID:16902423 PMID:17684380 PMID:19262603 PMID:19664001 PMID:20672373 PMID:21729033 PMID:25741868 PMID:26740202 PMID:28492532 PMID:28851938 PMID:29543227 PMID:29880184 PMID:30578701 PMID:30916489 PMID:31168818 PMID:31586585 PMID:32293521 PMID:34906502 PMID:35216886 PMID:36980989 More...
NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
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Cst6
cystatin E/M
ISS
OMIM:242500
MouseDO
NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISS
OMIM:242500
MouseDO
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Prss8
serine protease 8
ISS
OMIM:242500
MouseDO
NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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Cyp4f39
cytochrome P450, family 4, subfamily f, polypeptide 39
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25998749 PMID:26056268 PMID:26646773 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:31625567 PMID:31876103 PMID:32069299 PMID:33067036 PMID:33223529 PMID:33786896 More...
NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
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Nipal4
NIPA-like domain containing 4
ISO
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 PMID:22098531 PMID:22622417 PMID:24397709 PMID:25326635 PMID:25458912 PMID:25741868 PMID:26762237 PMID:27025581 PMID:28492532 PMID:29444371 PMID:29453417 PMID:31046801 PMID:31168818 PMID:31347739 PMID:31532840 PMID:33786896 PMID:34908195 PMID:35412663 PMID:35734965 More...
NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
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Lipn
lipase, family member N
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8
OMIM CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:231,584,950...231,603,456
Ensembl chr 1:231,584,956...231,603,468
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Cers3
ceramide synthase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9
OMIM CTD ClinVar
PMID:23549421 PMID:23754960 PMID:25741868 PMID:28492532
NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO ISS
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure OMIM:604320 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25568292 PMID:25741868 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30665247 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:34169998 PMID:34190362 PMID:34232518 PMID:34255403 PMID:34539730 PMID:34602496 PMID:11528396 More...
RGD:737748
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
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Tnk2
tyrosine kinase, non-receptor, 2
ISO
ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy
ClinVar
PMID:23686771 PMID:25741868 PMID:26595808 PMID:28492532
NCBI chr11:68,114,725...68,154,254
Ensembl chr11:68,114,726...68,154,009
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Alpk1
alpha-kinase 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923
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Ap1ar
adaptor-related protein complex 1 associated regulatory protein
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,276,631...216,309,020
Ensembl chr 2:216,276,631...216,309,013
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Fam241a
family with sequence similarity 241 member A
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,344,563...216,375,193
Ensembl chr 2:216,343,822...216,375,242
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Foxc1
forkhead box C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14630904
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Hmgn2
high mobility group nucleosomal binding domain 2
ISS
OMIM:180500
MouseDO
NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521 Ensembl chr16:146,192,126...146,195,521
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Neurog2
neurogenin 2
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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Pax6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14630904
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitx2
paired-like homeodomain 2
ISO ISS
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM:180500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12130547 PMID:12381896 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15591271 PMID:15728254 PMID:15895993 PMID:16389592 PMID:16498627 PMID:16936096 PMID:17167399 PMID:17576681 PMID:18045789 PMID:18723525 PMID:19052653 PMID:19218601 PMID:19513095 PMID:20881294 PMID:22224469 PMID:22569110 PMID:24604414 PMID:25741868 PMID:26220699 PMID:28492532 PMID:28611552 PMID:28730073 PMID:29100920 PMID:29506241 PMID:29664915 PMID:30457409 PMID:31185933 PMID:31529555 PMID:32499604 PMID:33304895 PMID:33492563 PMID:35882526 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Prdm5
PR/SET domain 5
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:26489929
NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Tifa
TRAF-interacting protein with forkhead-associated domain
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,257,926...216,267,635
Ensembl chr 2:216,234,774...216,267,841
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Zgrf1
zinc finger, GRF-type containing 1
ISO
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
ClinVar
PMID:25741868
NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
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Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1
ClinVar
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 PMID:9430594 PMID:9536098 PMID:9872318 PMID:10323247 PMID:10482260 PMID:10774989 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14669214 PMID:14985406 PMID:15030501 PMID:15178210 PMID:15249611 PMID:15596769 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16691402 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17675531 PMID:17872363 PMID:17993630 PMID:18006581 PMID:18246739 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:19818940 PMID:20119593 PMID:20437616 PMID:21913284 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23290024 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23849776 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25960349 PMID:25982755 PMID:26007637 PMID:26070303 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28602030 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:30552426 PMID:31019026 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:32139178 PMID:32184343 PMID:32362866 PMID:32770121 PMID:32860008 PMID:32917465 PMID:33333793 PMID:33659638 PMID:33754465 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35104249 PMID:35468861 PMID:35557555 PMID:36849527 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2
ClinVar
PMID:12742592 PMID:15249611 PMID:17129708 PMID:18625963 PMID:19464834 PMID:28492532 PMID:29314763 PMID:31199083 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Kcnq3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.W309R (human) DNA:missense mutation:cds:p.G263V (human)
OMIM ClinVar CTD RGD
PMID:1859177 PMID:9425900 PMID:9536098 PMID:10852552 PMID:14534157 PMID:16235065 PMID:16883520 PMID:17576681 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18425618 PMID:18625963 PMID:19167866 PMID:19344764 PMID:19464834 PMID:20437616 PMID:21687499 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25524373 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:26582918 PMID:27888506 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30348901 PMID:30578330 PMID:30782577 PMID:31177578 PMID:31238879 PMID:31785789 PMID:32086284 PMID:33004838 PMID:34356170 PMID:10852552 PMID:9425900 More...
RGD:9686433 , RGD:9686418
NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Epilepsy, benign neonatal, 1, and/or myokymia
ClinVar
PMID:24375629 PMID:25741868
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1
ClinVar
PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 PMID:9872318 PMID:10482260 PMID:11175290 PMID:11572947 PMID:11690625 PMID:11784811 PMID:12742592 PMID:12754513 PMID:12847176 PMID:14534157 PMID:14985406 PMID:15030501 PMID:16039833 PMID:16199547 PMID:16260777 PMID:16319223 PMID:16686649 PMID:16916607 PMID:16966552 PMID:17129708 PMID:17475800 PMID:17576681 PMID:17872363 PMID:17993630 PMID:18353052 PMID:18414213 PMID:18483067 PMID:18515377 PMID:19344764 PMID:19380078 PMID:19453707 PMID:19559753 PMID:20119593 PMID:20437616 PMID:21937445 PMID:22169383 PMID:22275249 PMID:22455920 PMID:22926866 PMID:23360469 PMID:23440208 PMID:23621294 PMID:23692823 PMID:23708187 PMID:23849776 PMID:23934111 PMID:24107868 PMID:24318194 PMID:24375629 PMID:24586341 PMID:24759409 PMID:25046240 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25740509 PMID:25741868 PMID:25818041 PMID:25880994 PMID:25959266 PMID:25982755 PMID:26007637 PMID:26070303 PMID:26073431 PMID:26138355 PMID:26467025 PMID:26544041 PMID:26704558 PMID:26993267 PMID:27334371 PMID:27535030 PMID:27602407 PMID:27779742 PMID:27861786 PMID:27864847 PMID:27888506 PMID:27905566 PMID:28133863 PMID:28139826 PMID:28283543 PMID:28399683 PMID:28492532 PMID:28602030 PMID:28628100 PMID:28687180 PMID:28717674 PMID:28733343 PMID:28867141 PMID:28973083 PMID:29056246 PMID:29186148 PMID:29190809 PMID:29215089 PMID:29263209 PMID:29314763 PMID:29383681 PMID:29390993 PMID:29429461 PMID:29455050 PMID:29655203 PMID:29726930 PMID:29852413 PMID:29933521 PMID:30126342 PMID:30185235 PMID:30440138 PMID:30478917 PMID:30552426 PMID:31019026 PMID:31152295 PMID:31164858 PMID:31199083 PMID:31418850 PMID:31440733 PMID:31512412 PMID:31780880 PMID:32139178 PMID:32184343 PMID:32362866 PMID:32770121 PMID:32860008 PMID:32917465 PMID:33333793 PMID:33659638 PMID:33754465 PMID:34020651 PMID:34055682 PMID:34120799 PMID:34354098 PMID:34395220 PMID:34711204 PMID:35104249 PMID:35468861 PMID:35557555 PMID:36849527 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Aldh7a1
aldehyde dehydrogenase 7 family, member A1
ISO
ClinVar Annotator: match by term: neonatal seizures
ClinVar
PMID:16199547 PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532 More...
NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
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Atp1a2
ATPase Na+/K+ transporting subunit alpha 2
ISO
RGD
PMID:12953268
RGD:1358436
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
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Ccn4
cellular communication network factor 4
ISO
ClinVar Annotator: match by term: Benign neonatal seizures
ClinVar
PMID:28492532 PMID:29383681 PMID:29852413
NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248
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Diaph1
diaphanous-related formin 1
ISO
ClinVar Annotator: match by term: Neonatal seizure
ClinVar
NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Benign neonatal seizures
ClinVar
PMID:28492532 PMID:29383681 PMID:29852413
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:121200 | OMIM:121201 | OMIM:269720 ClinVar Annotator: match by term: Benign neonatal seizures
CTD MouseDO ClinVar
PMID:18625963 PMID:19380078 PMID:19464834 PMID:26910900 PMID:28492532
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Kcnq3
potassium voltage-gated channel subfamily Q member 3
ISS ISO
OMIM:121200 | OMIM:121201 | OMIM:269720 ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures
MouseDO ClinVar
PMID:9425900 PMID:9536098 PMID:14534157 PMID:16199547 PMID:16235065 PMID:16883520 PMID:17576681 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:19464834 PMID:20437616 PMID:21687499 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25524373 PMID:25640679 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:26582918 PMID:27888506 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 PMID:29655203 PMID:29778030 PMID:29808309 PMID:29852413 PMID:29924869 PMID:30348901 PMID:30578330 PMID:30782577 PMID:31177578 PMID:31238879 PMID:31440727 PMID:31785789 PMID:31981491 PMID:32086284 PMID:32613771 PMID:33004838 PMID:33149276 PMID:34356170 PMID:35627274 More...
NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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Ndrg1
N-myc downstream regulated 1
ISO
ClinVar Annotator: match by term: Benign neonatal seizures
ClinVar
PMID:28492532 PMID:29383681 PMID:29852413
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
G
Phf20l1
PHD finger protein 20-like 1
ISO
ClinVar Annotator: match by term: Benign neonatal seizures
ClinVar
PMID:28492532 PMID:29383681 PMID:29852413
NCBI chr 7:98,330,580...98,396,526
Ensembl chr 7:98,330,580...98,396,526
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: neonatal seizures
ClinVar
PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 PMID:21880868 PMID:25741868 PMID:28471437 PMID:28492532 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar
PMID:20371507 PMID:25741868 PMID:27779742 PMID:28379373 PMID:28492532 PMID:29100083 PMID:30619928 PMID:31904120 PMID:35431799 More...
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
G
Sla
src-like adaptor
ISO
ClinVar Annotator: match by term: Benign neonatal seizures
ClinVar
PMID:28492532 PMID:29383681 PMID:29852413
NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648
G
Tg
thyroglobulin
ISO
ClinVar Annotator: match by term: Benign neonatal seizures
ClinVar
PMID:28492532 PMID:29383681 PMID:29852413
NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210
G
Tmem71
transmembrane protein 71
ISO
ClinVar Annotator: match by term: Benign neonatal seizures
ClinVar
PMID:28492532 PMID:29383681 PMID:29852413
NCBI chr 7:98,276,975...98,323,161
Ensembl chr 7:98,276,975...98,315,858
G
Ccr5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:multiple organs (rat)
RGD
PMID:18554634
RGD:4890426
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Abhd4
abhydrolase domain containing 4, N-acyl phospholipase B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,697,384...27,716,013
Ensembl chr15:27,704,113...27,716,966
G
Acin1
apoptotic chromatin condensation inducer 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,102,112...28,147,001
Ensembl chr15:28,102,112...28,147,001
G
Adcy4
adenylate cyclase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,266,280...29,282,153
Ensembl chr15:29,266,287...29,282,108
G
Ajuba
ajuba LIM protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
G
Akap6
A-kinase anchoring protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,184,101...70,624,369
Ensembl chr 6:70,184,175...70,619,738
G
Ang
angiogenin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,711...24,323,361
G
Ap1g2
adaptor related protein complex 1 subunit gamma 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004
G
Ap4s1
adaptor related protein complex 4 subunit sigma 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
G
Arf6
ADP-ribosylation factor 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,853,742...87,854,890
Ensembl chr 6:87,840,142...87,874,114
G
Arhgap5
Rho GTPase activating protein 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
G
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
G
Baz1a
bromodomain adjacent to zinc finger domain, 1A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459
G
Bcl2l2
Bcl2-like 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
G
Brms1l
BRMS1 like transcriptional repressor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,266,673...73,300,630
Ensembl chr 6:73,266,691...73,300,631
G
C15h14orf119
similar to human chromosome 14 open reading frame 119
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180
G
C15h14orf93
similar to human chromosome 14 open reading frame 93
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,037,567...28,064,347
Ensembl chr15:28,037,574...28,064,274
G
C6h14orf28
similar to human chromosome 14 open reading frame 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
G
Carmil3
capping protein regulator and myosin 1 linker 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,978,440...28,995,865
Ensembl chr15:28,979,007...28,996,225
G
Cbln3
cerebellin 3 precursor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,362,014...29,364,523
Ensembl chr15:29,362,302...29,364,612
G
Cdh24
cadherin 24
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,091,578...28,101,330
Ensembl chr15:28,091,637...28,101,340
G
Cebpe
CCAAT/enhancer binding protein epsilon
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,169,711...28,171,471
Ensembl chr15:28,169,704...28,171,814
G
Cfl2
cofilin 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674
G
Chd8
chromodomain helicase DNA binding protein 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
G
Cideb
cell death-inducing DFFA-like effector b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,252,208...29,256,482
Ensembl chr15:29,252,213...29,256,605
G
Clec14a
C-type lectin domain containing 14A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,881,470...75,884,612
Ensembl chr 6:75,881,473...75,884,612
G
Cma1
chymase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233
G
Cmtm5
CKLF-like MARVEL transmembrane domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,412,624...28,415,304
Ensembl chr15:28,412,624...28,415,287
G
Coch
cochlin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
G
Cpne6
copine 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,998,293...29,005,044
Ensembl chr15:28,998,293...29,005,044
G
Ctsg
cathepsin G
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,930,988...29,937,353
Ensembl chr15:29,931,003...29,937,353
G
Dad1
defender against cell death 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,677,286...27,697,120
Ensembl chr15:27,677,268...27,697,347
G
Dcaf11
DDB1 and CUL4 associated factor 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,046,744...29,057,450
Ensembl chr15:29,046,826...29,057,669
G
Dhrs1
dehydrogenase/reductase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,236,522...29,243,807
Ensembl chr15:29,236,522...29,243,838
G
Dhrs2
dehydrogenase/reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,688,881...28,703,646
Ensembl chr15:28,688,940...28,703,644
G
Dhrs4
dehydrogenase/reductase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,966,544...28,978,135
Ensembl chr15:28,966,553...28,978,127
G
Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
G
Dtd2
D-aminoacyl-tRNA deacylase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
G
Eapp
E2F-associated phosphoprotein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,166,486...72,194,357
Ensembl chr 6:72,170,301...72,193,734
G
Eddm3b
epididymal protein 3B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,343,992...24,346,759
Ensembl chr15:24,345,573...24,346,025
G
Efs
embryonal Fyn-associated substrate
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,392,417...28,403,016
Ensembl chr15:28,392,187...28,401,902
G
Egln3
egl-9 family hypoxia-inducible factor 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:71,650,297...71,675,766
Ensembl chr 6:71,650,297...71,675,766
G
Emc9
ER membrane protein complex subunit 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,071,881...29,076,098
Ensembl chr15:29,071,883...29,076,098
G
Fam177a1
family with sequence similarity 177, member A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,632,628...72,647,553
Ensembl chr 6:72,632,623...72,647,553
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fbxo33
F-box protein 33
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,900,619...76,934,232
Ensembl chr 6:76,900,631...76,932,669
G
Fitm1
fat storage-inducing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,064,746...29,066,015
Ensembl chr15:29,064,707...29,066,015
G
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
G
Foxa1
forkhead box A1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
G
Foxg1
forkhead box G1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:66,674,797...66,677,611
Ensembl chr 6:66,666,587...66,678,607
G
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,527,849...82,530,641
G
G2e3
G2/M-phase specific E3 ubiquitin protein ligase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
G
Gemin2
gem (nuclear organelle) associated protein 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,706,424...76,721,154
Ensembl chr 6:76,707,523...76,721,153
G
Gmpr2
guanosine monophosphate reductase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,165,421...29,175,933
Ensembl chr15:29,165,783...29,174,935
G
Gpr33-ps1
G protein-coupled receptor 33, pseudogene 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
G
Gzmb
granzyme B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,343,352...30,346,814
Ensembl chr15:30,173,603...30,346,814
G
Gzmf
granzyme F
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:30,005,361...30,018,649
Ensembl chr15:30,007,267...30,018,649
G
Haus4
HAUS augmin-like complex, subunit 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,994,530...28,006,147
Ensembl chr15:27,994,532...28,005,938
G
Heatr5a
HEAT repeat containing 5A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
G
Hectd1
HECT domain E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053
G
Hnrnpc
heterogeneous nuclear ribonucleoprotein C
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,779,593...24,809,213
Ensembl chr15:24,779,450...24,809,183
G
Homez
homeobox and leucine zipper encoding
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,321,633...28,339,486
Ensembl chr15:28,320,819...28,339,745
G
Il25
interleukin 25
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,408,766...28,412,157
Ensembl chr15:28,408,842...28,411,893
G
Insm2
INSM transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,973,861...72,976,453
G
Ipo4
importin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,117,365...29,127,382
Ensembl chr15:29,117,365...29,127,285
G
Irf9
interferon regulatory factor 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
G
Jph4
junctophilin 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,579,579...28,588,903
Ensembl chr15:28,571,568...28,587,573
G
Khnyn
KH and NYN domain containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,365,399...29,379,650
Ensembl chr15:29,365,260...29,376,967
G
Klhdc1
kelch domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,670,182...87,765,431
Ensembl chr 6:87,712,772...87,765,424
G
Klhdc2
kelch domain containing 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187
G
Klhl28
kelch-like family member 28
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
G
L2hgdh
L-2-hydroxyglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
G
LOC103693823
epididymal secretory protein E3-beta-like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,385,585...24,386,643
Ensembl chr15:24,386,192...24,386,623
G
Lrfn5
leucine rich repeat and fibronectin type III domain containing 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:79,466,403...79,822,821
Ensembl chr 6:79,467,961...79,822,815
G
Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
G
Lrr1
leucine rich repeat protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
G
Ltb4r
leukotriene B4 receptor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,263,199...29,265,716
G
Ltb4r2
leukotriene B4 receptor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,258,712...29,260,531
Ensembl chr15:29,259,240...29,260,316
G
Mbip
MAP3K12 binding inhibitory protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:73,808,133...73,825,394
Ensembl chr 6:73,808,133...73,825,374
G
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,746,422...85,608,640
Ensembl chr 6:84,761,941...85,608,126
G
Mdp1
magnesium-dependent phosphatase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,148,994...29,151,868
Ensembl chr15:29,148,994...29,151,905
G
Mettl17
methyltransferase like 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,582,296...24,589,029
Ensembl chr15:24,582,406...24,589,026
G
Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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Mia2
MIA SH3 domain ER export factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,787,508...76,885,246
Ensembl chr 6:76,787,508...76,885,211
G
Mipol1
mirror-image polydactyly 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,755,293...75,090,403
Ensembl chr 6:74,755,395...75,086,811
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Mir208a
microRNA 208a
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,425,570...28,425,652
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Mir208b
microRNA 208b
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749
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Mis18bp1
MIS18 binding protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,182,497...83,231,978
Ensembl chr 6:83,182,499...83,231,383
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Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mrpl52
mitochondrial ribosomal protein L52
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,882,777...27,886,131
Ensembl chr15:27,882,829...27,886,799
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Myh6
myosin heavy chain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Ndrg2
NDRG family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626
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Nedd8
NEDD8 ubiquitin like modifier
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
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Nemf
nuclear export mediator factor
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841
G
Nfatc4
nuclear factor of activated T-cells 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,286,998...29,314,610
Ensembl chr15:29,305,535...29,314,610
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Nfkbia
NFKB inhibitor alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Ngdn
neuroguidin
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,489,950...28,497,286
Ensembl chr15:28,490,040...28,519,654
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Nkx2-1
NK2 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | 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)
OMIM CTD ClinVar RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 PMID:15289765 PMID:15955952 PMID:17220277 PMID:17576681 PMID:17765926 PMID:18661567 PMID:18788921 PMID:18957494 PMID:19176457 PMID:19336474 PMID:20020530 PMID:21813802 PMID:22825795 PMID:22832740 PMID:23379327 PMID:23430038 PMID:24171694 PMID:24453141 PMID:24555207 PMID:24714694 PMID:24930029 PMID:25326635 PMID:25741868 PMID:26640963 PMID:27066577 PMID:28492532 PMID:28588801 PMID:28732825 PMID:29109906 PMID:29538355 PMID:29882472 PMID:30352709 PMID:30746413 PMID:26839702 PMID:18788921 PMID:23379327 PMID:23911641 More...
RGD:12914770 , RGD:11073166 , RGD:12914769 , RGD:12914768
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
G
Nkx2-8
NK2 homeobox 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,086,274...74,087,977
Ensembl chr 6:74,086,274...74,087,977
G
Nop9
NOP9 nucleolar protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,243,853...29,252,220
Ensembl chr15:29,243,862...29,252,220
G
Nova1
NOVA alternative splicing regulator 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:63,780,105...63,905,567
Ensembl chr 6:63,783,489...63,906,289
G
Npas3
neuronal PAS domain protein 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:70,702,773...71,527,928
Ensembl chr 6:70,703,170...71,524,884
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
G
Nubpl
NUBP iron-sulfur cluster assembly factor like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
G
Nynrin
NYN domain and retroviral integrase containing
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,332,873...29,355,215
Ensembl chr15:29,332,869...29,355,215
G
Or10g1b
olfactory receptor family 10 subfamily G member 1B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,127,833...25,128,789
Ensembl chr15:25,127,140...25,135,188
G
Or10g3
olfactory receptor family 10 subfamily G member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,098,674...25,099,615
Ensembl chr15:25,098,674...25,099,615
G
Or4e2
olfactory receptor family 4 subfamily E member 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,187,633...25,188,559
Ensembl chr15:25,179,800...25,191,297
G
Or5au1
olfactory receptor family 5 subfamily AU member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,736,872...24,742,314
Ensembl chr15:24,737,497...24,743,632
G
Oxa1l
OXA1L, mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
G
Pabpn1
poly(A) binding protein, nuclear 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,368,100...28,372,712
Ensembl chr15:28,368,100...28,372,703
G
Pax9
paired box 9
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
G
Pnn
pinin, desmosome associated protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,758,138...76,766,451
Ensembl chr 6:76,758,117...76,766,889
G
Pole2
DNA polymerase epsilon 2, accessory subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
G
Ppp1r3e
protein phosphatase 1, regulatory subunit 3E
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,348,443...28,349,603
Ensembl chr15:28,347,854...28,349,603
G
Ppp2r3c
protein phosphatase 2, regulatory subunit B'', gamma
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
G
Prkd1
protein kinase D1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
G
Prmt5
protein arginine methyltransferase 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
G
Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
G
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
G
Psma6
proteasome 20S subunit alpha 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554
G
Psmb11
proteasome subunit beta 11
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,084,736...28,085,655
G
Psmb5
proteasome 20S subunit beta 5
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,072,772...28,077,367
Ensembl chr15:28,072,781...28,077,440
G
Psme1
proteasome activator subunit 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
G
Psme2
proteasome activator subunit 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
G
Rab2b
RAB2B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
G
Rabggta
Rab geranylgeranyltransferase subunit alpha
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,206,328...29,213,398
Ensembl chr15:29,206,157...29,213,348
G
Ralgapa1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378
G
Rec8
REC8 meiotic recombination protein
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326
G
Rem2
RRAD and GEM like GTPase 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,933,950...27,938,429
Ensembl chr15:27,933,950...27,938,429
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Rn7sl1
RNA component of signal recognition particle 7SL1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
G
Rnase1
ribonuclease A family member 1, pancreatic
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,361,924...24,363,633
Ensembl chr15:24,361,927...24,363,624
G
Rnase13
ribonuclease A family member 13
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,618,209...24,618,670
Ensembl chr15:24,618,209...24,618,670
G
Rnase2
ribonuclease A family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,449,618...24,450,427
Ensembl chr15:24,449,611...24,450,479
G
Rnase3
ribonuclease A family member 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
Rnase4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,312,765...24,330,112
Ensembl chr15:24,312,464...24,330,117
G
Rnase6
ribonuclease A family member k6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,354,305...24,357,289
Ensembl chr15:24,354,303...24,357,328
G
Rnf212b
ring finger protein 212B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,274,629...28,321,093
Ensembl chr15:28,244,083...28,321,347
G
Rnf31
ring finger protein 31
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,083,047...29,095,328
Ensembl chr15:29,083,631...29,101,915
G
Rpgrip1
RPGR interacting protein 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
G
Rpl10l
ribosomal protein L10 like
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:84,544,771...84,545,791
Ensembl chr 6:84,543,540...84,545,816
G
Rpl36al1
ribosomal protein L36A like 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,654,808...87,656,202
Ensembl chr X:97,766,179...97,768,892 Ensembl chr10:97,766,179...97,768,892
G
Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
G
Sall2
spalt-like transcription factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
G
Scfd1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
G
Sdr39u1
short chain dehydrogenase/reductase family 39U, member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,378,156...29,380,989
Ensembl chr15:29,378,026...29,381,560
G
Sec23a
Sec23 homolog A, COPII coat complex component
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,658,793...76,706,125
Ensembl chr 6:76,658,427...76,706,035
G
Slc22a17
solute carrier family 22, member 17
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,382,285...28,389,435
Ensembl chr15:28,382,292...28,388,799
G
Slc25a21
solute carrier family 25 member 21
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680
G
Slc39a2
solute carrier family 39 member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,590,738...24,592,850
Ensembl chr15:24,590,738...24,592,850
G
Slc7a7
solute carrier family 7 member 7
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:27,822,088...27,873,121
Ensembl chr15:27,822,091...27,865,648
G
Slc7a8
solute carrier family 7 member 8
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
G
Snx6
sorting nexin 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,230,950...72,274,157
Ensembl chr 6:72,229,870...72,315,911
G
Sos2
SOS Ras/Rho guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
G
Sptssa
serine palmitoyltransferase, small subunit A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,144,714...72,156,130
Ensembl chr 6:72,144,714...72,156,214
G
Srp54a
signal recognition particle 54A
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
G
Sstr1
somatostatin receptor 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
G
Strn3
striatin 3
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
G
Stxbp6
syntaxin binding protein 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:61,920,756...62,157,405
Ensembl chr 6:61,920,756...62,158,024
G
Supt16h
SPT16 homolog, facilitates chromatin remodeling subunit
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
G
Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
G
Thtpa
thiamine triphosphatase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,567,619...28,571,580
Ensembl chr15:28,567,323...28,571,580
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Tm9sf1
transmembrane 9 superfamily member 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,127,585...29,135,334
Ensembl chr15:29,127,584...29,135,349
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Tmem253
transmembrane protein 253
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
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Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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Tox4
TOX high mobility group box family member 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
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Tppp2
tubulin polymerization-promoting protein family member 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
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Trappc6b
trafficking protein particle complex subunit 6B
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
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Tssk4
testis-specific serine kinase 4
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
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Ttc6
tetratricopeptide repeat domain 6
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
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Vcpkmt
valosin containing protein lysine methyltransferase
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
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Zfhx2
zinc finger homeobox 2
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
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Zfp219
zinc finger protein 219
ISO
ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
ClinVar
PMID:25741868
NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
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Bax
BCL2 associated X, apoptosis regulator
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bid
BH3 interacting domain death agonist
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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Casp3
caspase 3
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8
caspase 8
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9
caspase 9
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cat
catalase
IDA
RGD
PMID:19693467
RGD:5130750
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl7
C-C motif chemokine ligand 7
ISO
RGD
PMID:16888287
RGD:5130981
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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Cd209c
CD209c molecule
ISO
RGD
PMID:20050784
RGD:5131185
NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
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Cd209d
CD209d molecule
ISO
RGD
PMID:20050784
RGD:5131185
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Chi3l1
chitinase 3 like 1
ISO
protein:decreased secretion:lung, secretion (human)
RGD
PMID:20558631
RGD:4892651
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Cxcl1
C-X-C motif chemokine ligand 1
IEP
RGD
PMID:19951473
RGD:5134972
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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Dag1
dystroglycan 1
ISO
DNA:SNP: :p.N494H (human)
RGD
PMID:17196572
RGD:11537474
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Edn1
endothelin 1
IEP
protein:increased expression:lung (rat)
RGD
PMID:20647310
RGD:4144841
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Epas1
endothelial PAS domain protein 1
treatment
IEP
RGD
PMID:23065129
RGD:10395385
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:22003089
RGD:10402122
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:24120392
RGD:12792215
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (human)
RGD
PMID:14726935
RGD:4142520
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion, haplotype:: (human)
RGD
PMID:24120392
RGD:12792215
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H19
H19 imprinted maternally expressed transcript
ameliorates
ISO
RGD
PMID:33285606
RGD:242905194
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IEP
RGD
PMID:23065129 PMID:26431790
RGD:10395385 , RGD:11537057
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il1b
interleukin 1 beta
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16813970 PMID:15539764
RGD:4143172
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
protein:increased expression:lung associated with Premature Birth;DNA:polymorphism::
RGD
PMID:15539764 PMID:22882323
RGD:4143172 , RGD:12910846
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Bronchopulmonary dysplasia
ClinVar
PMID:25741868
NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with Premature Birth;DNA:polymorphism:exon:
RGD
PMID:22882323
RGD:12910846
NCBI chr 1:228,016,439...228,024,736
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Mif
macrophage migration inhibitory factor
ISO
associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung
RGD
PMID:18097062
RGD:4891007
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:19097983
RGD:5129685
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Muc1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:cord plasma
RGD
PMID:18025794
RGD:5131170
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Nfkbia
NFKB inhibitor alpha
exacerbates
ISO
DNA:SNPs:promoter: (rs2233406, rs2233409) (human)
RGD
PMID:23487427
RGD:40902982
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Postn
periostin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22363622
NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
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Scgb1a1
secretoglobin family 1A member 1
ISO
RGD
PMID:11435254
RGD:5144211
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Serpine1
serpin family E member 1
ISO
associated with Premature Birth;protein:increased expression:blood:
RGD
PMID:25140773
RGD:13208551
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sftpa1
surfactant protein A1
susceptibility
ISO
DNA:snps, haplotypes:multiple (human) DNA:polymorphisms, haplotype: (human)
RGD
PMID:17264398 PMID:11105614
RGD:4143384 , RGD:4144876
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
susceptibility
ISO
DNA:deletion:intron (human) DNA:SNPs:5'UTR,exon: DNA:polymorphism:intron (human)
RGD
PMID:15102713 PMID:26045806 PMID:17264398 PMID:12424586
RGD:4143405 , RGD:11085373 , RGD:4143384 , RGD:4143418
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpd
surfactant protein D
ISO
RGD
PMID:17264398
RGD:4143384
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Tnf
tumor necrosis factor
severity no_association
ISO
DNA:SNP:promoter:-238A>G (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:15286263 PMID:15286263
RGD:12904049 , RGD:12904049
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
IEP
RGD
PMID:26431790
RGD:11537057
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Txn1
thioredoxin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20812253
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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Vdr
vitamin D receptor
susceptibility
ISO
associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human)
RGD
PMID:24796371
RGD:13432055
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma
ClinVar
PMID:12406348 PMID:25741868 PMID:28492532 PMID:30288772
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
ISO
ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma
ClinVar
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt2
keratin 2
ISO ISS
ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition OMIM:146800 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 PMID:9204966 PMID:9804344 PMID:10233323 PMID:10620137 PMID:11531804 PMID:25741868 PMID:26581228 PMID:28492532 PMID:29444371 PMID:31953843 More...
NCBI chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963
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Atl2
atlastin GTPase 2
ISO
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480
NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421
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Cpamd8
C3 and PZP-like, alpha-2-macroglobulin domain containing 8
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar
PMID:25741868
NCBI chr 4:155,332,827...155,413,098
Ensembl chr 4:155,332,827...155,413,117
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility
ISO ISS
ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset OMIM:231300 CTD Direct Evidence: marker/mechanism 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 MouseDO CTD RGD
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11184479 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:12525557 PMID:12598442 PMID:14507861 PMID:14635112 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16199547 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17224759 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18055790 PMID:18070520 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19195637 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19528825 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20057908 PMID:20151268 PMID:20198978 PMID:20664688 PMID:20827438 PMID:21081970 PMID:21168818 PMID:21306220 PMID:21572728 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22878448 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:24940937 PMID:25018621 PMID:25091052 PMID:25109919 PMID:25261878 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25826643 PMID:25950505 PMID:25952714 PMID:25978063 PMID:26550445 PMID:26550974 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27268095 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28425089 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30662834 PMID:30788381 PMID:31024815 PMID:31251480 PMID:31453292 PMID:32224865 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32830442 PMID:32832252 PMID:32860008 PMID:32883240 PMID:34956319 PMID:35085548 PMID:35170016 PMID:36076309 PMID:16490498 PMID:19247456 PMID:12567107 PMID:19597567 PMID:19593207 PMID:20664688 PMID:10227395 PMID:23922489 PMID:12624268 More...
RGD:7800719 , RGD:7800711 , RGD:7800707 , RGD:7800689 , RGD:7800688 , RGD:7800680 , RGD:7800670 , RGD:7800657 , RGD:734869
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Foxc1
forkhead box C1
ISS
OMIM:231300
MouseDO
NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
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Galm
galactose mutarotase
ISO
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480
NCBI chr 6:14,837,540...14,889,484
Ensembl chr 6:14,837,548...14,889,310
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Hnrnpll
heterogeneous nuclear ribonucleoprotein L-like
ISO
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar
PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480
NCBI chr 6:14,969,953...15,000,574
Ensembl chr 6:14,970,057...14,999,745
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Ltbp2
latent transforming growth factor beta binding protein 2
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar
PMID:19656777
NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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Myoc
myocilin
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic
ClinVar
PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:16466712 PMID:17563717 PMID:22194650 PMID:22736945 PMID:25741868 PMID:28492532 PMID:35196929 More...
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Pxdn
peroxidasin
ISO
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar
PMID:25741868
NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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Tyr
tyrosinase
ISS
OMIM:231300
MouseDO
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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A4galt
alpha 1,4-galactosyltransferase
ISO
ClinVar Annotator: match by term: Infantile cortical hyperostosis
ClinVar
PMID:20971946 PMID:28492532
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
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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 CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)
ClinVar CTD OMIM RGD
PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23443412 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 PMID:17309652 PMID:15864348 More...
RGD:5688296 , RGD:11667069
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE
ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
G
Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1
OMIM ClinVar
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953
NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343
G
Mymx
myomixer, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
OMIM ClinVar
PMID:35642635
NCBI chr 9:15,397,086...15,398,263
Ensembl chr 9:15,397,144...15,398,263
G
Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2
ClinVar
PMID:35642635
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
G
Cpt2
carnitine palmitoyltransferase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
CTD OMIM ClinVar
PMID:736528 PMID:835844 PMID:1528846 PMID:2647738 PMID:2762996 PMID:7711730 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712 PMID:10090476 PMID:10398215 PMID:10607472 PMID:10734268 PMID:10862092 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20810031 PMID:20830526 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27525900 PMID:27578510 PMID:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31501239 PMID:32295037 PMID:32411386 PMID:32528171 PMID:33123633 PMID:33532864 PMID:34063237 More...
NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
G
Abcg4
ATP binding cassette subfamily G member 4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
G
Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoa4
apolipoprotein A4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
G
Apoc3
apolipoprotein C3
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
G
Arcn1
archain 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
G
Arhgef12
Rho guanine nucleotide exchange factor 12
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
G
Atp5mg
ATP synthase membrane subunit G
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
G
Bace1
beta-secretase 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
G
Bcl9l
BCL9 like
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
G
C1qtnf5
C1q and TNF related 5
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
G
C2cd2l
C2CD2-like
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
G
Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
G
Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
G
Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:25741868 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
G
Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
G
Cenatac
centrosomal AT-AC splicing factor
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
G
Cep164
centrosomal protein 164
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
G
Cxcr5
C-X-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
G
Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
G
Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
G
Drc12
dynein regulatory complex subunit 12 homolog
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
G
Dscaml1
DS cell adhesion molecule-like 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
G
Foxr1
forkhead box R1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
G
Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
G
Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
G
Grik4
glutamate ionotropic receptor kainate type subunit 4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
G
H2ax
H2A.X variant histone
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
G
Hinfp
histone H4 transcription factor
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
G
Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
G
Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
G
Ift46
intraflagellar transport 46
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
G
Il10ra
interleukin 10 receptor subunit alpha
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
G
Jaml
junction adhesion molecule like
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
G
Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
G
Mcam
melanoma cell adhesion molecule
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
G
Mfrp
membrane frizzled-related protein
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
G
Mpzl2
myelin protein zero-like 2
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
G
Mpzl3
myelin protein zero-like 3
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
G
Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
G
Nherf4
NHERF family PDZ scaffold protein 4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
G
Nlrx1
NLR family member X1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
G
Oaf
out at first homolog
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
G
Pafah1b2
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
G
Pcsk7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
G
Phldb1
pleckstrin homology-like domain, family B, member 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
G
Pou2f3
POU class 2 homeobox 3
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
G
Rnf214
ring finger protein 214
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
G
Rnf26
ring finger protein 26
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
G
Rps25
ribosomal protein s25
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
G
Sc5d
sterol-C5-desaturase
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
G
Scn2b
sodium voltage-gated channel beta subunit 2
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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Scn4b
sodium voltage-gated channel beta subunit 4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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Sidt2
SID1 transmembrane family, member 2
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sik3
SIK family kinase 3
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Slc37a4
solute carrier family 37 member 4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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Sorl1
sortilin related receptor 1
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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Tagln
transgelin
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tbcel
tubulin folding cofactor E-like
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
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Tecta
tectorin alpha
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Thy1
Thy-1 cell surface antigen
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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Tlcd5
TLC domain containing 5
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
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Tmem25
transmembrane protein 25
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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Tmprss13
transmembrane serine protease 13
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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Tmprss4
transmembrane serine protease 4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Treh
trehalase
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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Trim29
tripartite motif-containing 29
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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Ttc36
tetratricopeptide repeat domain 36
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,112,737...45,116,345
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Ube4a
ubiquitination factor E4A
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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Upk2
uroplakin 2
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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Usp2
ubiquitin specific peptidase 2
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:28492532
NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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Vps11
VPS11 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: CD3epsilon deficiency
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 More...
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Mdfic
MyoD family inhibitor domain containing
ISS ISO
OMIM:617300 ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
MouseDO ClinVar
PMID:25741868 PMID:35235341
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Abhd5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
ISO ISS
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis OMIM:275630 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:6181472 PMID:11590543 PMID:14708602 PMID:15136565 PMID:20022472 PMID:20520629 PMID:22373837 PMID:25741868 PMID:27025581 PMID:28492532 PMID:29130490 PMID:31883530 More...
NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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Ano10
anoctamin 10
ISO
ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis
ClinVar
PMID:11590543 PMID:25741868 PMID:28492532
NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Cdhr5
cadherin-related family member 5
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,373,110...196,381,609
Ensembl chr 1:196,373,112...196,381,543
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Cend1
cell cycle exit and neuronal differentiation 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,525,153...196,528,152
Ensembl chr 1:196,523,920...196,528,302
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Deaf1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,401,857...196,435,541
Ensembl chr 1:196,401,857...196,435,541
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Drd4
dopamine receptor D4
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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Eps8l2
EPS8-like 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541
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Gatd1
glutamine amidotransferase class 1 domain containing 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,504,533...196,512,561
Ensembl chr 1:196,504,833...196,512,551
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Irf7
interferon regulatory factor 7
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,367,380...196,370,943
Ensembl chr 1:196,367,361...196,370,832
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Lmntd2
lamin tail domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,315,112...196,320,880
Ensembl chr 1:196,315,115...196,319,156
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mir210
microRNA 210
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Phrf1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,333,663...196,366,901
Ensembl chr 1:196,333,903...196,366,892
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Pidd1
p53-induced death domain protein 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:9536098 PMID:16199547 PMID:16644682 PMID:17187067 PMID:17576681 PMID:18445597 PMID:19763152 PMID:20307669 PMID:20370797 PMID:21073837 PMID:21170305 PMID:21544567 PMID:22406018 PMID:22832386 PMID:22990388 PMID:23232698 PMID:23449549 PMID:25287355 PMID:25363365 PMID:25741868 PMID:26922712 PMID:27869069 PMID:28391974 PMID:28492532 PMID:28499397 PMID:30738494 PMID:31525260 PMID:32041611 PMID:33569515 PMID:35460704 More...
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Rassf7
Ras association domain family member 7
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,319,600...196,323,787
Ensembl chr 1:196,320,902...196,323,770
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Rplp2
ribosomal protein lateral stalk subunit P2
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,546,086...196,548,636
Ensembl chr 1:196,546,352...196,548,645
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Sct
secretin
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658
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Slc25a22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,528,471...196,536,398
Ensembl chr 1:196,528,472...196,536,331
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Taldo1
transaldolase 1
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974
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Tmem80
transmembrane protein 80
ISO
ClinVar Annotator: match by term: Neutral lipid storage myopathy
ClinVar
PMID:28492532
NCBI chr 1:196,435,999...196,444,368
Ensembl chr 1:196,436,003...196,444,367 Ensembl chr 1:196,436,003...196,444,367
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Nsdhl
NAD(P) dependent steroid dehydrogenase-like
ISO
ClinVar Annotator: match by term: Child syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10710235 PMID:11907515 PMID:12966526 PMID:14527740 PMID:15689440 PMID:18414213 PMID:18825599 PMID:19906044 PMID:25093865 PMID:25526675 PMID:25741868 PMID:26459993 PMID:28492532 PMID:34787337 More...
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Pigl
phosphatidylinositol glycan anchor biosynthesis, class L
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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:CDS:c.500T>C (p.L167P) (human)
OMIM ClinVar CTD RGD
PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28327575 PMID:28371479 PMID:28492532 PMID:29473937 PMID:30023290 PMID:31535386 PMID:22444671 More...
RGD:243048422
NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Chitayat syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:mutations:exon:multiple DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human) DNA:mutations:exon, intron:multiple DNA:deletion: :p.S1387del (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:3202066 PMID:7716548 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9536098 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10194514 PMID:10334322 PMID:10338089 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11692183 PMID:11872696 PMID:11999683 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15807877 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20215776 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20432820 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20943781 PMID:21199866 PMID:21321069 PMID:21378087 PMID:21716120 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21989597 PMID:21992908 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22591706 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802590 PMID:22855730 PMID:23067144 PMID:23261959 PMID:23275527 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23771172 PMID:24145932 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24622368 PMID:24645945 PMID:24686051 PMID:24937539 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25518065 PMID:25584046 PMID:25639667 PMID:25741868 PMID:25781672 PMID:25931474 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:26545620 PMID:26740944 PMID:27175728 PMID:27188453 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27810688 PMID:27908292 PMID:28270372 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28667717 PMID:29082728 PMID:29893194 PMID:30114684 PMID:30186238 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30462810 PMID:30487145 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31589614 PMID:31821855 PMID:32027066 PMID:32170320 PMID:32267248 PMID:32670376 PMID:32792356 PMID:32893419 PMID:33046911 PMID:33240318 PMID:33410562 PMID:33477506 PMID:33587123 PMID:34253504 PMID:34566892 PMID:34764980 PMID:34927408 PMID:34992182 PMID:36339418 PMID:36699461 PMID:7716548 PMID:23506826 PMID:23652837 PMID:20573158 PMID:16429405 PMID:24401662 PMID:21422196 PMID:18596924 More...
RGD:704365 , RGD:12790723 , RGD:11069847 , RGD:12790596 , RGD:11067821 , RGD:12790587 , RGD:11070657 , RGD:12743628
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Gck
glucokinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hyperinsulinism
CTD ClinVar
PMID:15277402 PMID:19053014 PMID:19336674 PMID:21831042 PMID:23890519 PMID:25733449 PMID:27802864 PMID:31094068 PMID:34532767 PMID:34680961 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Glud1
glutamate dehydrogenase 1
ISO
RGD
PMID:9571255
RGD:1302513
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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Hadh
hydroxyacyl-CoA dehydrogenase
ISO
DNA:deletion:cds (human)
RGD
PMID:14693719
RGD:2306664
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
DNA:mutations: : ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar RGD
PMID:10227563 PMID:10447526 PMID:10983627 PMID:12669197 PMID:15281001 PMID:15793260 PMID:15928245 PMID:16883527 PMID:16946562 PMID:17563455 PMID:18268044 PMID:18414213 PMID:20164212 PMID:21105491 PMID:22140441 PMID:22232426 PMID:23227446 PMID:23247789 PMID:24033266 PMID:24097065 PMID:24476040 PMID:25041077 PMID:25631608 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:26512799 PMID:26740944 PMID:26981542 PMID:27080136 PMID:27420379 PMID:27884173 PMID:28492532 PMID:29207974 PMID:29355436 PMID:29792621 PMID:30191603 PMID:31264968 PMID:31595705 PMID:32583173 PMID:33846082 PMID:34373539 PMID:34805411 PMID:35052457 PMID:35118593 PMID:35256061 PMID:20164212 More...
RGD:12904701
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL DNA:SNPs:exon:c.151G>T, c.1017G>T (human) DNA:missense mutations, frameshift mutations:CDS:multiple DNA:deletion, frameshift mutation, missense mutations:exon:multiple DNA:deletion, insertion:exon DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD ClinVar RGD
PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:15886397 PMID:16357843 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:20980454 PMID:21119644 PMID:21544516 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:23275527 PMID:24018988 PMID:24383515 PMID:24401662 PMID:25741868 PMID:26448950 PMID:26467025 PMID:27908292 PMID:28123437 PMID:28492532 PMID:28938416 PMID:29893194 PMID:30377186 PMID:32935446 PMID:36208030 PMID:23506826 PMID:23652837 PMID:24401662 PMID:17316607 PMID:24421282 More...
RGD:12790723 , RGD:11069847 , RGD:12790587 , RGD:12743643 , RGD:12743624
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Kcnt2
potassium sodium-activated channel subfamily T member 2
ISO
ClinVar Annotator: match by term: KCNT2-related condition
ClinVar
PMID:25741868 PMID:29069600
NCBI chr13:51,664,129...52,059,209
Ensembl chr13:51,664,686...52,056,987
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Tbc1d4
TBC1 domain family, member 4
ISO
RGD
PMID:19470471
RGD:7248544
NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
ClinVar
PMID:7585650 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9651581 PMID:11335038 PMID:11443545 PMID:11709541 PMID:15982307 PMID:16135823 PMID:19085937 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24728327 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26884178 PMID:27396511 PMID:27504877 PMID:28492532 PMID:29607586 PMID:31282071 PMID:31803976 PMID:35699229 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ahr
aryl hydrocarbon receptor
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:23301081
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Atf6
activating transcription factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26029869
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
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Myo7a
myosin VIIA
ISO
associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human)
RGD
PMID:21901789
RGD:11537385
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Pax6
paired box 6
ISO
DNA:snp:intron:IVS4+5G>C (human)
RGD
PMID:15629294
RGD:8552281
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Robo1
roundabout guidance receptor 1
ISO
ClinVar Annotator: match by term: Congenital nystagmus
ClinVar
PMID:25741868 PMID:28492532 PMID:35348658
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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Rpe65
retinoid isomerohydrolase RPE65
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32971638
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Frmd7
FERM domain containing 7
ISO ISS
ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked OMIM:310700 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17893669 PMID:17962394 PMID:18087240 PMID:19072571 PMID:19892780 PMID:21303855 PMID:21746984 PMID:23020937 PMID:24513357 PMID:25678693 PMID:25741868 PMID:25916882 PMID:27081518 PMID:28492532 PMID:30015830 PMID:30025138 PMID:30942644 More...
NCBI chr X:130,375,925...130,423,836
Ensembl chr X:130,377,227...130,423,771
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Gpr143
G protein-coupled receptor 143
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
OMIM CTD ClinVar
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 More...
NCBI chr X:22,002,914...22,027,720
Ensembl chr X:22,002,914...22,027,715
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Robo1
roundabout guidance receptor 1
ISO
OMIM
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphisms: :HLA-DQA1*01:03, HLA-DQA1*03:02 (human)
RGD
PMID:26856406
RGD:126928144
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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Aldoa
aldolase, fructose-bisphosphate A
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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Aldoart2
aldolase 1 A retrogene 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:25073507 PMID:28492532
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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Asphd1
aspartate beta-hydroxylase domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090
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Bola2
bolA family member 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:181,291,967...181,292,833
Ensembl chr 1:181,291,398...181,292,676
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C1h16orf92
similar to human chromosome 16 open reading frame 92
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,434,524...181,441,000
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Cdipt
CDP-diacylglycerol--inositol 3-phosphatidyltransferase
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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Coro1a
coronin 1A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:23522482 PMID:24033266 PMID:24372385 PMID:24811917 PMID:25073507 PMID:25666293 PMID:25741868 PMID:27577878 PMID:28492532 PMID:30899265 More...
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Doc2a
double C2 domain alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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Gdpd3
glycerophosphodiester phosphodiesterase domain containing 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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Hirip3
HIRA interacting protein 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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Ino80e
INO80 complex subunit E
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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Kctd13
potassium channel tetramerization domain containing 13
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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Kif22
kinesin family member 22
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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Lrba
LPS responsive beige-like anchor protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:16199547 PMID:25741868 PMID:26206937 PMID:26768763 PMID:28492532
NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
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Mapk3
mitogen activated protein kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Maz
MYC associated zinc finger protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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Mcee
methylmalonyl CoA epimerase
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:17823972 PMID:25073507 PMID:28492532
NCBI chr 1:117,964,576...117,987,779
Ensembl chr 1:117,964,576...117,988,484
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Mvp
major vault protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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Pagr1
Paxip1-associated glutamate-rich protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,622,698...181,625,024
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Ppp4c
protein phosphatase 4, catalytic subunit
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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Prrt2
proline-rich transmembrane protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850
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Rhoh
ras homolog family member H
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency with epidermodysplasia verruciformis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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Sez6l2
seizure related 6 homolog like 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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Slx1b
SLX1 homolog B, structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION
ClinVar
PMID:28492532
NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775
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Taok2
TAO kinase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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Tbx6
T-box transcription factor 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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Tlcd3b
TLC domain containing 3B
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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Tmem219
transmembrane protein 219
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:28492532 More...
NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472
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Ypel3
yippee-like 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 8
ClinVar
PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 PMID:24372385 PMID:24811917 PMID:25073507 PMID:28492532 More...
NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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Adrb1
adrenoceptor beta 1
ISO
RGD
PMID:20203292
RGD:5129107
NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259
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Adrb2
adrenoceptor beta 2
ISO
DNA:polymorphisms (human)
RGD
PMID:20203292 PMID:17502834
RGD:5129107 , RGD:4145099
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Adrb3
adrenoceptor beta 3
ISO
protein:increased expression:bronchus
RGD
PMID:20203292
RGD:5129107
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Ager
advanced glycosylation end product-specific receptor
severity
ISO
DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human)
RGD
PMID:21993476 PMID:24127697
RGD:6767553 , RGD:8695959
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Akp3
alkaline phosphatase 3, intestine, not Mn requiring
ISO
mRNA,protein:decreased expression:intestine:
RGD
PMID:21970994
RGD:14349050
NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
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Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:16622660
RGD:6483578
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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C5
complement C5
severity
ISO
RGD
PMID:3540828
RGD:5130162
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Ccl11
C-C motif chemokine ligand 11
ISO
protein:increased expression:paranasal sinus
RGD
PMID:17999785
RGD:4145455
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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Ccl17
C-C motif chemokine ligand 17
ISO
mRNA, protein:increased expression:neutrophil
RGD
PMID:18026571
RGD:4145491
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20438838
RGD:4143275
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20575639 PMID:19386685
RGD:5130907 , RGD:5130902
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19017998
RGD:4145632
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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Cd14
CD14 molecule
susceptibility
ISO
protein:increased expression:Macrophages, Alveolar DNA:polymorphism:promoter:c. -159 C>T
RGD
PMID:20302606 PMID:19466271
RGD:4144794 , RGD:4144796
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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Cd40lg
CD40 ligand
ISO
protein:increased expression:blood
RGD
PMID:15102009
RGD:7248443
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cftr
CF transmembrane conductance regulator
severity no_association disease_progression
ISO ISS IMP
DNA:missense mutation:exon:p.W1282X(human) ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis OMIM:219700 CTD Direct Evidence: marker/mechanism DNA,protein:mutations,substitutions:exon: DNA:mutation:exon:p.R117H(human) DNA:nonsense mutation:cds;c. 2143delT (human) DNA:mutation:cds:p.G551D (mouse) DNA:insertion:exon:c.3904_3905insT (human) DNA:mutations:multiple DNA:mutation: :p.N1303K (human) DNA:splice-site mutation:intron: 3272-26A>G (human) DNA:mutations: : DNA:deletion:exon:p.F508del(mouse) DNA:missense mutations: :p.F508C, S1251N DNA:missende mutation:exon:p.G551D (human) protein:altered expression:lung
ClinVar MouseDO CTD OMIM RGD
PMID:754013 PMID:1282016 PMID:1282900 PMID:1283148 PMID:1283149 PMID:1283151 PMID:1284466 PMID:1284468 PMID:1284471 PMID:1284477 PMID:1284478 PMID:1284529 PMID:1284530 PMID:1284531 PMID:1284534 PMID:1284535 PMID:1284537 PMID:1284538 PMID:1284539 PMID:1284540 PMID:1284541 PMID:1284542 PMID:1284627 PMID:1284639 PMID:1284889 PMID:1347644 PMID:1370365 PMID:1370875 PMID:1371265 PMID:1372093 PMID:1373934 PMID:1373935 PMID:1374052 PMID:1376016 PMID:1376017 PMID:1377276 PMID:1379210 PMID:1379211 PMID:1379413 PMID:1380673 PMID:1380689 PMID:1380943 PMID:1381146 PMID:1381442 PMID:1381723 PMID:1382316 PMID:1384321 PMID:1384326 PMID:1384328 PMID:1518030 PMID:1536179 PMID:1537190 PMID:1545465 PMID:1673094 PMID:1678049 PMID:1682496 PMID:1695717 PMID:1709778 PMID:1710599 PMID:1710600 PMID:1712898 PMID:1712984 PMID:1715308 PMID:1716180 PMID:1718974 PMID:1721624 PMID:1722350 PMID:1723032 PMID:1723056 PMID:1756602 PMID:1757965 PMID:1757966 PMID:1867536 PMID:1903761 PMID:1937486 PMID:1944451 PMID:1977306 PMID:1990834 PMID:1997384 PMID:1998343 PMID:1999830 PMID:2045102 PMID:2135388 PMID:2210767 PMID:2210768 PMID:2210769 PMID:2220803 PMID:2233932 PMID:2233965 PMID:2236053 PMID:2267887 PMID:2300168 PMID:2344617 PMID:2349952 PMID:2378364 PMID:2395135 PMID:2397487 PMID:2441227 PMID:2475911 PMID:2565038 PMID:2570460 PMID:2915972 PMID:3716676 PMID:5371902 PMID:6840743 PMID:6963320 PMID:7472820 PMID:7475569 PMID:7477025 PMID:7493947 PMID:7504969 PMID:7504970 PMID:7505689 PMID:7505690 PMID:7505693 PMID:7505694 PMID:7505767 PMID:7506096 PMID:7506605 PMID:7508183 PMID:7508414 PMID:7509231 PMID:7509310 PMID:7509683 PMID:7509684 PMID:7509685 PMID:7512860 PMID:7512993 PMID:7513292 PMID:7513293 PMID:7513294 PMID:7513889 PMID:7515303 PMID:7516232 PMID:7516233 PMID:7516234 PMID:7516305 PMID:7517264 PMID:7517267 PMID:7517268 PMID:7518409 PMID:7518829 PMID:7519167 PMID:7520022 PMID:7520798 PMID:7520799 PMID:7521710 PMID:7521937 PMID:7522211 PMID:7522329 PMID:7522901 PMID:7524909 PMID:7524910 PMID:7524913 PMID:7525450 PMID:7525963 PMID:7526685 PMID:7526927 PMID:7526928 PMID:7526929 PMID:7527269 PMID:7529319 PMID:7529962 PMID:7530553 PMID:7530719 PMID:7531541 PMID:7532150 PMID:7533604 PMID:7534040 PMID:7534226 PMID:7534748 PMID:7535742 PMID:7536669 PMID:7537147 PMID:7537148 PMID:7537150 PMID:7538127 PMID:7539080 PMID:7539210 PMID:7539342 PMID:7540133 PMID:7540587 PMID:7541273 PMID:7541274 PMID:7541510 PMID:7542223 PMID:7542347 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:7581406 PMID:7581407 PMID:7586569 PMID:7599637 PMID:7606851 PMID:7668304 PMID:7679367 PMID:7680378 PMID:7680525 PMID:7680769 PMID:7681034 PMID:7681035 PMID:7682196 PMID:7682884 PMID:7682896 PMID:7682984 PMID:7683628 PMID:7683952 PMID:7683954 PMID:7684641 PMID:7684643 PMID:7684644 PMID:7684646 PMID:7686336 PMID:7686423 PMID:7686577 PMID:7686820 PMID:7687986 PMID:7689008 PMID:7689009 PMID:7689013 PMID:7689897 PMID:7689898 PMID:7689902 PMID:7691344 PMID:7691345 PMID:7691352 PMID:7691356 PMID:7691813 PMID:7692051 PMID:7693946 PMID:7694298 PMID:7723568 PMID:7739684 PMID:7757078 PMID:7789957 PMID:7868128 PMID:7881429 PMID:8081395 PMID:8092189 PMID:8097485 PMID:8100293 PMID:8163293 PMID:8213163 PMID:8262525 PMID:8343799 PMID:8406518 PMID:8421472 PMID:8445619 PMID:8477260 PMID:8522333 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:8723695 PMID:8740923 PMID:8741733 PMID:8800923 PMID:8818956 PMID:8825494 PMID:8825927 PMID:8829633 PMID:8829643 PMID:8834261 PMID:8844211 PMID:8844213 PMID:8863168 PMID:8865181 PMID:8880589 PMID:8880910 PMID:8886242 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:9108869 PMID:9135274 PMID:9147636 PMID:9150159 PMID:9150843 PMID:9163660 PMID:9164051 PMID:9164328 PMID:9222768 PMID:9235853 PMID:9239681 PMID:9252549 PMID:9254853 PMID:9254864 PMID:9259194 PMID:9259197 PMID:9271620 PMID:9272157 PMID:9272738 PMID:9298826 PMID:9305991 PMID:9321772 PMID:9345100 PMID:9374552 PMID:9375855 PMID:9379898 PMID:9383031 PMID:9401006 PMID:9401110 PMID:9417117 PMID:9429141 PMID:9435322 PMID:9439669 PMID:9452048 PMID:9452054 PMID:9452112 PMID:9459003 PMID:9459534 PMID:9475107 PMID:9482579 PMID:9493456 PMID:9499426 PMID:9507391 PMID:9512029 PMID:9521595 PMID:9536098 PMID:9550361 PMID:9550362 PMID:9554753 PMID:9557894 PMID:9598638 PMID:9618063 PMID:9620832 PMID:9630075 PMID:9678705 PMID:9683582 PMID:9691989 PMID:9719631 PMID:9725922 PMID:9736775 PMID:9736778 PMID:9788722 PMID:9797105 PMID:9799593 PMID:9804160 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PMID:10790222 PMID:10790225 PMID:10794365 PMID:10798353 PMID:10798368 PMID:10801389 PMID:10812063 PMID:10819640 PMID:10827969 PMID:10834512 PMID:10836331 PMID:10852925 PMID:10862085 PMID:10862786 PMID:10866956 PMID:10869121 PMID:10874326 PMID:10875853 PMID:10875874 PMID:10875876 PMID:10878476 PMID:10909845 PMID:10913957 PMID:10922395 PMID:10922396 PMID:10923036 PMID:10925568 PMID:10950058 PMID:10963013 PMID:10970190 PMID:10980550 PMID:10980579 PMID:10982968 PMID:10993719 PMID:11001817 PMID:11005149 PMID:11022925 PMID:11025834 PMID:11038458 PMID:11055897 PMID:11069835 PMID:11101688 PMID:11102992 PMID:11108532 PMID:11118444 PMID:11119745 PMID:11137998 PMID:11158459 PMID:11168023 PMID:11168024 PMID:11171377 PMID:11180668 PMID:11186891 PMID:11216394 PMID:11219165 PMID:11242048 PMID:11276378 PMID:11278813 PMID:11280952 PMID:11288708 PMID:11288718 PMID:11295849 PMID:11303509 PMID:11303517 PMID:11336127 PMID:11336401 PMID:11354633 PMID:11379874 PMID:11388756 PMID:11390899 PMID:11401894 PMID:11427889 PMID:11430710 PMID:11443282 PMID:11446424 PMID:11448786 PMID:11462247 PMID:11466205 PMID:11471192 PMID:11484207 PMID:11491162 PMID:11491164 PMID:11504857 PMID:11523757 PMID:11547256 PMID:11555145 PMID:11585852 PMID:11589722 PMID:11597353 PMID:11668613 PMID:11729110 PMID:11732487 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:12001283 PMID:12007216 PMID:12014388 PMID:12070257 PMID:12070264 PMID:12080183 PMID:12084728 PMID:12089190 PMID:12110684 PMID:12116247 PMID:12120234 PMID:12124706 PMID:12124743 PMID:12127423 PMID:12133923 PMID:12151438 PMID:12166651 PMID:12167682 PMID:12172395 PMID:12183675 PMID:12186867 PMID:12200467 PMID:12215837 PMID:12357328 PMID:12361483 PMID:12394343 PMID:12397022 PMID:12400067 PMID:12414835 PMID:12422349 PMID:12437773 PMID:12439892 PMID:12452372 PMID:12454843 PMID:12503104 PMID:12521276 PMID:12529365 PMID:12529713 PMID:12530290 PMID:12544470 PMID:12578973 PMID:12624947 PMID:12630722 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:14586256 PMID:14618962 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:15040442 PMID:15046061 PMID:15070876 PMID:15074370 PMID:15084222 PMID:15084988 PMID:15088804 PMID:15097853 PMID:15121783 PMID:15126740 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PMID:25688174 PMID:25697318 PMID:25697321 PMID:25698453 PMID:25704068 PMID:25732475 PMID:25735457 PMID:25739099 PMID:25741868 PMID:25741869 PMID:25754095 PMID:25755212 PMID:25763566 PMID:25781545 PMID:25797027 PMID:25799511 PMID:25824381 PMID:25824995 PMID:25826586 PMID:25867140 PMID:25869325 PMID:25880441 PMID:25887396 PMID:25892339 PMID:25898134 PMID:25898554 PMID:25900089 PMID:25905921 PMID:25910067 PMID:25922769 PMID:25940043 PMID:25944907 PMID:25956447 PMID:25963003 PMID:25981758 PMID:26003066 PMID:26003067 PMID:26006199 PMID:26014425 PMID:26038974 PMID:26070913 PMID:26075213 PMID:26075876 PMID:26087173 PMID:26087176 PMID:26089335 PMID:26095523 PMID:26096753 PMID:26098992 PMID:26100556 PMID:26135562 PMID:26146130 PMID:26149808 PMID:26160248 PMID:26182300 PMID:26199320 PMID:26208274 PMID:26214305 PMID:26229102 PMID:26277102 PMID:26282188 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:26553470 PMID:26568242 PMID:26574590 PMID:26581802 PMID:26618866 PMID:26627831 PMID:26631874 PMID:26648081 PMID:26651825 PMID:26656651 PMID:26671754 PMID:26683699 PMID:26684250 PMID:26708955 PMID:26730394 PMID:26755536 PMID:26761715 PMID:26795017 PMID:26800689 PMID:26814065 PMID:26823392 PMID:26826884 PMID:26846474 PMID:26847993 PMID:26856987 PMID:26856995 PMID:26864378 PMID:26888287 PMID:26898888 PMID:26900683 PMID:26905352 PMID:26911355 PMID:26946416 PMID:26948992 PMID:26976279 PMID:26989879 PMID:26990548 PMID:27022295 PMID:27026144 PMID:27035618 PMID:27049043 PMID:27065010 PMID:27081564 PMID:27086061 PMID:27131402 PMID:27143075 PMID:27145507 PMID:27157324 PMID:27158673 PMID:27160424 PMID:27171515 PMID:27174726 PMID:27175795 PMID:27182737 PMID:27185048 PMID:27195969 PMID:27209008 PMID:27214204 PMID:27222777 PMID:27240813 PMID:27261451 PMID:27264265 PMID:27287722 PMID:27298017 PMID:27311679 PMID:27324553 PMID:27334259 PMID:27340661 PMID:27347467 PMID:27364092 PMID:27447098 PMID:27449771 PMID:27469177 PMID:27488443 PMID:27533158 PMID:27535533 PMID:27555793 PMID:27577878 PMID:27578509 PMID:27625827 PMID:27659740 PMID:27660821 PMID:27662103 PMID:27665964 PMID:27673710 PMID:27706244 PMID:27707539 PMID:27717243 PMID:27728908 PMID:27738188 PMID:27745802 PMID:27773592 PMID:27805836 PMID:27806795 PMID:27812499 PMID:27837951 PMID:27870577 PMID:27884173 PMID:27895116 PMID:27898234 PMID:27912062 PMID:27917292 PMID:27996019 PMID:28001373 PMID:28003230 PMID:28003367 PMID:28027573 PMID:28040058 PMID:28068001 PMID:28116329 PMID:28129809 PMID:28129813 PMID:28152038 PMID:28163942 PMID:28174639 PMID:28185838 PMID:28194692 PMID:28196530 PMID:28242630 PMID:28261631 PMID:28325531 PMID:28332257 PMID:28340353 PMID:28348582 PMID:28366727 PMID:28371569 PMID:28392015 PMID:28408918 PMID:28419121 PMID:28422754 PMID:28440306 PMID:28448979 PMID:28456595 PMID:28465863 PMID:28469871 PMID:28471435 PMID:28475858 PMID:28492530 PMID:28492532 PMID:28502372 PMID:28544683 PMID:28546993 PMID:28575328 PMID:28603918 PMID:28606620 PMID:28608624 PMID:28611235 PMID:28617084 PMID:28646244 PMID:28651844 PMID:28655774 PMID:28687971 PMID:28711222 PMID:28736296 PMID:28771972 PMID:28784578 PMID:28785019 PMID:28800122 PMID:28801929 PMID:28805948 PMID:28811149 PMID:28830496 PMID:28863137 PMID:28930490 PMID:28944235 PMID:28947035 PMID:28957316 PMID:28968805 PMID:28978796 PMID:28992757 PMID:29035608 PMID:29040544 PMID:29055982 PMID:29095814 PMID:29099333 PMID:29099344 PMID:29113966 PMID:29124052 PMID:29126871 PMID:29133775 PMID:29168366 PMID:29173301 PMID:29174009 PMID:29178639 PMID:29202459 PMID:29208182 PMID:29216686 PMID:29261177 PMID:29271547 PMID:29279204 PMID:29292091 PMID:29298718 PMID:29307731 PMID:29327948 PMID:29333815 PMID:29351449 PMID:29360847 PMID:29371133 PMID:29431110 PMID:29451946 PMID:29475947 PMID:29484681 PMID:29497617 PMID:29503250 PMID:29504914 PMID:29520692 PMID:29569753 PMID:29581173 PMID:29589582 PMID:29590070 PMID:29614238 PMID:29668297 PMID:29669919 PMID:29685811 PMID:29727070 PMID:29750258 PMID:29754320 PMID:29760218 PMID:29779145 PMID:29782810 PMID:29805046 PMID:29807875 PMID:29812963 PMID:29850441 PMID:29859674 PMID:29879995 PMID:29884450 PMID:29886024 PMID:29924856 PMID:29936070 PMID:29944384 PMID:29951967 PMID:29970830 PMID:29983195 PMID:29995784 PMID:29997923 PMID:30019023 PMID:30030066 PMID:30032850 PMID:30046002 PMID:30060175 PMID:30081288 PMID:30089726 PMID:30091983 PMID:30134826 PMID:30144894 PMID:30146269 PMID:30230364 PMID:30232781 PMID:30233781 PMID:30244528 PMID:30279124 PMID:30293248 PMID:30296588 PMID:30297908 PMID:30348612 PMID:30366773 PMID:30374031 PMID:30379828 PMID:30389600 PMID:30389601 PMID:30419605 PMID:30420730 PMID:30444886 PMID:30450785 PMID:30459277 PMID:30487145 PMID:30488522 PMID:30509709 PMID:30540547 PMID:30548586 PMID:30558651 PMID:30561903 PMID:30577776 PMID:30588852 PMID:30592194 PMID:30595473 PMID:30600261 PMID:30600599 PMID:30602999 PMID:30606298 PMID:30609409 PMID:30617673 PMID:30661751 PMID:30698611 PMID:30711384 PMID:30726326 PMID:30758641 PMID:30760291 PMID:30763667 PMID:30805437 PMID:30805499 PMID:30811104 PMID:30842938 PMID:30845638 PMID:30851139 PMID:30873022 PMID:30888834 PMID:30930780 PMID:30938940 PMID:30979466 PMID:30979683 PMID:30992994 PMID:30993151 PMID:30996306 PMID:31005549 PMID:31016917 PMID:31019283 PMID:31028937 PMID:31029283 PMID:31036917 PMID:31088717 PMID:31118044 PMID:31126253 PMID:31127727 PMID:31130284 PMID:31131953 PMID:31136843 PMID:31159747 PMID:31180159 PMID:31187952 PMID:31199594 PMID:31213628 PMID:31245908 PMID:31251792 PMID:31268981 PMID:31310009 PMID:31311920 PMID:31328366 PMID:31331863 PMID:31344706 PMID:31350925 PMID:31357024 PMID:31377750 PMID:31378749 PMID:31406621 PMID:31420175 PMID:31423445 PMID:31447099 PMID:31450232 PMID:31488014 PMID:31508243 PMID:31523618 PMID:31561038 PMID:31589614 PMID:31655510 PMID:31665830 PMID:31672438 PMID:31674704 PMID:31682332 PMID:31697873 PMID:31709488 PMID:31740593 PMID:31759907 PMID:31776420 PMID:31785789 PMID:31788264 PMID:31788424 PMID:31808782 PMID:31844968 PMID:31845523 PMID:31848897 PMID:31872980 PMID:31882543 PMID:31883651 PMID:31893350 PMID:31900120 PMID:31902693 PMID:31916691 PMID:31940241 PMID:31976142 PMID:31978131 PMID:31980526 PMID:31990467 PMID:31992191 PMID:32003094 PMID:32003480 PMID:32017858 PMID:32020786 PMID:32025909 PMID:32026723 PMID:32084388 PMID:32103733 PMID:32113160 PMID:32126153 PMID:32143663 PMID:32150665 PMID:32155011 PMID:32172930 PMID:32185651 PMID:32204475 PMID:32220772 PMID:32227567 PMID:32244302 PMID:32256364 PMID:32265312 PMID:32281737 PMID:32292813 PMID:32352720 PMID:32357917 PMID:32387800 PMID:32414100 PMID:32429104 PMID:32442342 PMID:32447501 PMID:32483343 PMID:32484936 PMID:32508047 PMID:32512765 PMID:32539862 PMID:32563932 PMID:32596391 PMID:32630227 PMID:32633402 PMID:32662942 PMID:32674983 PMID:32687833 PMID:32719396 PMID:32730979 PMID:32734384 PMID:32747394 PMID:32757986 PMID:32761997 PMID:32773111 PMID:32777524 PMID:32784480 PMID:32819855 PMID:32848127 PMID:32906206 PMID:32926152 PMID:32934006 PMID:32935393 PMID:32992607 PMID:33020115 PMID:33083013 PMID:33085659 PMID:33093640 PMID:33097431 PMID:33118704 PMID:33138251 PMID:33138774 PMID:33144682 PMID:33160331 PMID:33195651 PMID:33260873 PMID:33270637 PMID:33278322 PMID:33296276 PMID:33322690 PMID:33341408 PMID:33348555 PMID:33365035 PMID:33374015 PMID:33375403 PMID:33393655 PMID:33402933 PMID:33424627 PMID:33432171 PMID:33468668 PMID:33470563 PMID:33495079 PMID:33502066 PMID:33504063 PMID:33512069 PMID:33567498 PMID:33572515 PMID:33574797 PMID:33577586 PMID:33613790 PMID:33663443 PMID:33686728 PMID:33713579 PMID:33747920 PMID:33768849 PMID:33771570 PMID:33781744 PMID:33807078 PMID:33836782 PMID:33855558 PMID:33883100 PMID:33919435 PMID:33922413 PMID:33937153 PMID:33946859 PMID:33949881 PMID:33972190 PMID:34057205 PMID:34071719 PMID:34086412 PMID:34086689 PMID:34099697 PMID:34134972 PMID:34140271 PMID:34145097 PMID:34163370 PMID:34190021 PMID:34196078 PMID:34276759 PMID:34315429 PMID:34341587 PMID:34350279 PMID:34377682 PMID:34405919 PMID:34415821 PMID:34426522 PMID:34442373 PMID:34525262 PMID:34557648 PMID:34583889 PMID:34600583 PMID:34673937 PMID:34680554 PMID:34714360 PMID:34740355 PMID:34755701 PMID:34764021 PMID:34765005 PMID:34782259 PMID:34814176 PMID:34842364 PMID:34842611 PMID:34857524 PMID:34860163 PMID:34888852 PMID:34906502 PMID:34931337 PMID:34949556 PMID:34949574 PMID:34952832 PMID:34957709 PMID:34964109 PMID:34973142 PMID:34974990 PMID:34995514 PMID:34996830 PMID:34998674 PMID:35006361 PMID:35008443 PMID:35011616 PMID:35065958 PMID:35096544 PMID:35109852 PMID:35119551 PMID:35171259 PMID:35273129 PMID:35313924 PMID:35328596 PMID:35365085 PMID:35387941 PMID:35418593 PMID:35451201 PMID:35527187 PMID:35585144 PMID:35623009 PMID:35626323 PMID:35650428 PMID:35652053 PMID:35690514 PMID:35697137 PMID:35698092 PMID:35753512 PMID:35816621 PMID:35857025 PMID:35858753 PMID:35894192 PMID:35913788 PMID:35934641 PMID:35997436 PMID:36142302 PMID:36174992 PMID:36207272 PMID:36249513 PMID:36259570 PMID:36264955 PMID:36272381 PMID:36286063 PMID:36293274 PMID:36319933 PMID:36335097 PMID:36409994 PMID:36428953 PMID:36437230 PMID:36437957 PMID:36458240 PMID:36552859 PMID:36555865 PMID:36567205 PMID:36604502 PMID:36631132 PMID:36650664 PMID:36670555 PMID:36717774 PMID:36751320 PMID:36828084 PMID:36834620 PMID:36969284 PMID:36982273 PMID:37327085 PMID:37389024 PMID:37431359 PMID:37777263 PMID:63921865 PMID:238191399 PMID:1370365 PMID:31942562 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 More...
RGD:4140436 , RGD:126928119 , 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 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Cftrem1Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang
IMP
RGD
PMID:31942562
RGD:126928119
G
Cftrem1Sage
cystic fibrosis transmembrane conductance regulator; ZFN induced mutant 1 Sage
IMP
RGD
PMID:24608905
RGD:11566051
G
Cftrem2Ang
cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang
IMP
RGD
PMID:31942562
RGD:126928119
G
Clca1
chloride channel accessory 1
ISO
mRNA, protein:increased expression:respiratory system mucosa
RGD
PMID:15218996
RGD:4145657
NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
G
Clcn2
chloride voltage-gated channel 2
IDA
RGD
PMID:8811102
RGD:704390
NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
G
Cpa1
carboxypeptidase A1
ISO
ClinVar Annotator: match by term: Mucoviscidosis
ClinVar
PMID:23955596 PMID:25741868 PMID:28492532
NCBI chr 4:59,257,417...59,263,544
Ensembl chr 4:59,257,417...59,263,544
G
Csf3r
colony stimulating factor 3 receptor
ISO
protein:increased expression:respiratory system fluid/secretion, neutrophil
RGD
PMID:19293384
RGD:5133738
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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 chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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 chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
RGD
PMID:19597126
RGD:5135456
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:19597126
RGD:5135456
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:20818377
RGD:5135034
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
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:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
severity
ISO
DNA:polymorphism (human)
RGD
PMID:14593914
RGD:4889126
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Dctn4
dynactin subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772370
NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399
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Defb4
defensin beta 4
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9843998
RGD:4892267
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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Defb5
defensin beta 5
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:9843998
RGD:4892267
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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Edn1
endothelin 1
ISO
protein:increased expression:sputum (human)
RGD
PMID:10445603
RGD:4145062
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Eng
endoglin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30806029
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
ISO
ClinVar Annotator: match by term: Mucoviscidosis
ClinVar
PMID:7516776 PMID:9288046 PMID:12704386 PMID:17532303 PMID:19017876 PMID:23426996 More...
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Fas
Fas cell surface death receptor
severity
ISO
RGD
PMID:18685642
RGD:12903971
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
RGD
PMID:10567629
RGD:12904024
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr2a
Fc gamma receptor 2A
susceptibility
ISO
ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 PMID:25741868 More...
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Gclc
glutamate-cysteine ligase, catalytic subunit
ISO
RGD
PMID:16690975
RGD:5134682
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstm3
glutathione S-transferase mu 3
ISO
RGD
PMID:15115915
RGD:5135040
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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Gstm5
glutathione S-transferase, mu 5
ISO
RGD
PMID:15115915
RGD:5135040
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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Gstp1
glutathione S-transferase pi 1
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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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 chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Havcr2
hepatitis A virus cellular receptor 2
ISO
RGD
PMID:21263071
RGD:5135530
NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
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Hfe
homeostatic iron regulator
severity
ISO
DNA:missense mutations: :p.H63D, p.C282Y (human) ClinVar Annotator: match by term: Cystic fibrosis
ClinVar RGD
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:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17600748 PMID:18199861 PMID:18566337 PMID:19159930 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:23178241 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25741868 PMID:26153218 PMID:26365338 PMID:26975792 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526 PMID:30291871 More...
RGD:14701045
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hmox1
heme oxygenase 1
ISO
mRNA:protein:increased expression:lung
RGD
PMID:15184199
RGD:4145410
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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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 chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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Hspd1
heat shock protein family D (Hsp60) member 1
ISO
protein:increased expression:serum:
RGD
PMID:8255671
RGD:12910480
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:respiratory tract epithelium (rat)
RGD
PMID:22461702
RGD:12904899
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum:
RGD
PMID:15310308
RGD:12743589
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il13
interleukin 13
ISO
mRNA:increased expression:bronchoalveolar lavage fluid
RGD
PMID:15463872
RGD:4312589
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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Il17a
interleukin 17A
ISO
protein:increased expression:serum protein:increased expression:lung
RGD
PMID:19342416 PMID:21109552
RGD:4889105 , RGD:4889130
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il18bp
interleukin 18 binding protein
ISO
protein:increased expression:serum
RGD
PMID:20026745
RGD:4889551
NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Il1a
interleukin 1 alpha
severity
ISO
protein:increased expression:serum
RGD
PMID:8333775
RGD:4142849
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il6
interleukin 6
ISO
protein:increased expression:blood protein:increased expression:lung
RGD
PMID:16403491 PMID:20438838
RGD:5128672 , RGD:4143275
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il9
interleukin 9
ISO
protein:increased expression:respiratory system mucosa
RGD
PMID:12782818
RGD:5128699
NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
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Il9r
interleukin 9 receptor
ISO
protein:increased expression:respiratory system mucosa
RGD
PMID:12782818
RGD:5128699
NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
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Irf1
interferon regulatory factor 1
ISO
protein:decreased expression:intestine epithelium, nasal cavity epithelium
RGD
PMID:10930443
RGD:5128720
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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Lep
leptin
severity
ISO
RGD
PMID:18353734
RGD:5128819
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphism, haplotype: :252A>G (human)
RGD
PMID:21993476
RGD:6767553
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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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 RGD
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:25741868 PMID:28492532 PMID:16879250 PMID:10449435 More...
RGD:4889443 , RGD:4889447
NCBI chr 1:228,016,439...228,024,736
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Mif
macrophage migration inhibitory factor
severity
ISO
DNA:repeats:promoter
RGD
PMID:16179637
RGD:4891053
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:27689251
RGD:25671378
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mpo
myeloperoxidase
severity
ISO
DNA:polymorphism:promoter:-463G>A (human)
RGD
PMID:20954832 PMID:16883063
RGD:5130986 , RGD:5130968
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum (human)
RGD
PMID:19960788
RGD:5131272
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
mRNA:increased expression:nasal mucosa (human)
RGD
PMID:9155717
RGD:5131426
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
RGD
PMID:17255563
RGD:5131191
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
protein:altered glycosylation:saliva
RGD
PMID:17255563 PMID:11845304
RGD:5131191 , RGD:5131194
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
RGD
PMID:20309575
RGD:7364748
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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Ndufs1
NADH:ubiquinone oxidoreductase core subunit S1
ISO
protein:increased oxidation:colonic epithelium, mitochondrion (mouse)
RGD
PMID:21518732
RGD:6484688
NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
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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 chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
ISO
mRNA,protein:decreased expression:respiratory mucosa
RGD
PMID:16517573
RGD:4891958
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
ISO
DNA:polymorphism:exon: c. 894G>T (human)
RGD
PMID:12406848
RGD:4892049
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar
PMID:25741868
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Plg
plasminogen
ISO
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar
PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099
NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
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Ppara
peroxisome proliferator activated receptor alpha
ISO
mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes (human)
RGD
PMID:16875506
RGD:5683626
NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
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Prss1
serine protease 1
IEP
protein:increased expression:plasma
RGD
PMID:8625754
RGD:1599967
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Ptgdr2
prostaglandin D2 receptor 2
ISO
RGD
PMID:18334635
RGD:5135022
NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
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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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptx3
pentraxin 3
susceptibility
ISO
DNA:SNP:exon:rs35948036(human)
RGD
PMID:20927127
RGD:35673347
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
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RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
mRNA:decreased expression::decreased clearance of pathogens?
RGD
PMID:20044437
RGD:5144066
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
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Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15077107 PMID:19462466
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Scnn1b
sodium channel epithelial 1 subunit beta
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:219700
CTD MouseDO
PMID:16207733 PMID:16463024
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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Scnn1g
sodium channel epithelial 1 subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16463024
NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar
PMID:301355 PMID:1082356 PMID:1889260 PMID:2567291 PMID:3257660 PMID:6093867 PMID:6602622 PMID:8970361 PMID:10194472 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16608528 PMID:18187064 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:25637381 PMID:25741868 PMID:26141072 PMID:26672964 PMID:26831755 PMID:27153395 PMID:27465791 PMID:27535533 PMID:27959697 PMID:28492532 PMID:29232161 PMID:29882371 PMID:30585791 PMID:31447099 PMID:31980526 More...
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpina3n
serine (or cysteine) peptidase inhibitor, clade A, member 3N
severity
ISO
RGD
PMID:11120905
RGD:5147439
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:15271694
RGD:4143403
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
ISO
mRNA:increased expression:respiratory system mucosa
RGD
PMID:17507829
RGD:4143381
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
ISO
protein:increased expression:lung
RGD
PMID:15271694
RGD:4143403
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd
surfactant protein D
ISO
protein:decreased expression, altered degradation:lung
RGD
PMID:18211966
RGD:4143502
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Slc26a9
solute carrier family 26 member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22466613
NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330
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Slc6a14
solute carrier family 6 member 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22466613
NCBI chr X:112,314,643...112,375,412
Ensembl chr X:112,314,691...112,375,096
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Slc9a3
solute carrier family 9 member A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22466613
NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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Tgfb1
transforming growth factor, beta 1
ISO
protein:increased expression:lung CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystic fibrosis
CTD ClinVar OMIM RGD
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 PMID:28492532 PMID:19830844 More...
RGD:4145125
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
protein:increased expression:serum
RGD
PMID:25545245
RGD:13204794
NCBI chr X:1,212,969...1,217,714
Ensembl chr X:1,212,972...1,217,664
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Tlr4
toll-like receptor 4
severity
ISO
protein:increased expression:monocyte
RGD
PMID:20717938 PMID:20522639
RGD:4144105 , RGD:4144179
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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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 chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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Tlr9
toll-like receptor 9
ISO
DNA:snps:multiple (human)
RGD
PMID:20837493
RGD:5130208
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16463024
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar
PMID:25741868
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: DEND syndrome
ClinVar
PMID:15580558 PMID:15718250 PMID:25741868 PMID:26448950
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Abcc2
ATP binding cassette subfamily C member 2
susceptibility
ISO IMP
ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome DNA:missense mutation, deletions:cds:multiple (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9185779 PMID:9425227 PMID:9536098 PMID:9878557 PMID:10053008 PMID:10464142 PMID:11266082 PMID:11477083 PMID:11901087 PMID:12087194 PMID:12388192 PMID:12395335 PMID:12942343 PMID:15180328 PMID:15519273 PMID:15777714 PMID:15821043 PMID:15870973 PMID:16012956 PMID:16199547 PMID:16549534 PMID:16847695 PMID:16952291 PMID:17576681 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:29499989 PMID:30344695 PMID:30366773 PMID:31450232 PMID:31544333 PMID:31564432 PMID:32183854 PMID:32758197 PMID:33470920 PMID:33585635 PMID:34150028 PMID:35477852 PMID:36777185 PMID:10053008 PMID:9425227 PMID:8599091 More...
RGD:1598616 , RGD:150429696 , RGD:69812
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcc3
ATP binding cassette subfamily C member 3
IEP
RGD
PMID:14731123
RGD:1598620
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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Rdx
radixin
ISS
OMIM:237500
MouseDO
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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Slco1a1
solute carrier organic anion transporter family, member 1a1
IEP
RGD
PMID:14731123
RGD:1598620
NCBI chr 4:174,877,045...174,950,900
Ensembl chr 4:174,876,593...174,950,873
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Slco1a4
solute carrier organic anion transporter family, member 1a4
IEP
RGD
PMID:14731123
RGD:1598620
NCBI chr 4:174,710,004...174,764,810
Ensembl chr 4:174,710,004...175,254,573
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma
ClinVar
PMID:28492532
NCBI chr 8:109,604,877...109,637,249
Ensembl chr 8:109,604,861...109,637,252
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17050553
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Gjb3
gap junction protein, beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16297190
NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980
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Gjb4
gap junction protein, beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16297190
NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
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Jup
junction plakoglobin
ISS
OMIM:113800
MouseDO
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Krt1
keratin 1
susceptibility
ISO ISS
DNA:mutation: ; 5191/5192GG>A ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:1284546 PMID:1380725 PMID:1381288 PMID:12406348 PMID:12648226 PMID:25741868 PMID:26581228 PMID:28492532 PMID:30288772 PMID:33363884 PMID:11286616 More...
RGD:1600166
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
susceptibility
ISO ISS
DNA:mutations:cds: p.R156C (human) ClinVar Annotator: match by term: Bullous erythroderma ichthyosiformis congenita of Brocq | ClinVar Annotator: match by term: Bullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Epidermolytic Hyperkeratosis OMIM:113800
ClinVar MouseDO RGD
PMID:1380725 PMID:1381287 PMID:2182100 PMID:7508181 PMID:7509230 PMID:7512983 PMID:7526210 PMID:14705805 PMID:15583602 PMID:16505000 PMID:19474805 PMID:20302579 PMID:21271994 PMID:22930352 PMID:24001792 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 PMID:7512983 More...
RGD:1600168
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1
OMIM ClinVar
PMID:25741868 PMID:30288772
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
ISO
ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 2A, autosomal dominant
OMIM ClinVar
PMID:25741868
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
OMIM ClinVar
PMID:1021286 PMID:2198959 PMID:3202066 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10615958 PMID:10685979 PMID:10685980 PMID:10720932 PMID:10828824 PMID:10857971 PMID:10923633 PMID:10993895 PMID:11018078 PMID:11226335 PMID:11272143 PMID:11395395 PMID:11457841 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12166651 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:15371948 PMID:15466080 PMID:15561897 PMID:15562009 PMID:15579781 PMID:15580558 PMID:15718250 PMID:15807877 PMID:15842514 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:16969006 PMID:17236890 PMID:17378627 PMID:17384337 PMID:17389331 PMID:17446535 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17597441 PMID:17668386 PMID:17823772 PMID:17919176 PMID:17957187 PMID:17990484 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18390792 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19151370 PMID:19475716 PMID:19766903 PMID:19933268 PMID:20042013 PMID:20215776 PMID:20427569 PMID:20432820 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21142918 PMID:21199866 PMID:21214702 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21617188 PMID:21674179 PMID:21716120 PMID:21814221 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:21992908 PMID:22151254 PMID:22210575 PMID:22308858 PMID:22311976 PMID:22451668 PMID:22533711 PMID:22562119 PMID:22662265 PMID:22704848 PMID:22749773 PMID:22796691 PMID:22802363 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:24622368 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:25871929 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26162674 PMID:26180531 PMID:26208381 PMID:26246406 PMID:26268944 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26545620 PMID:26545876 PMID:26594346 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27334808 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27681997 PMID:27682711 PMID:27691052 PMID:27754802 PMID:27810688 PMID:27889714 PMID:27908292 PMID:27913849 PMID:28018462 PMID:28095440 PMID:28270372 PMID:28346775 PMID:28439221 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28587604 PMID:28663158 PMID:28667717 PMID:28757749 PMID:28791793 PMID:29082728 PMID:29127764 PMID:29207974 PMID:29216354 PMID:29644095 PMID:29675256 PMID:29751826 PMID:30004997 PMID:30098243 PMID:30114684 PMID:30186238 PMID:30191644 PMID:30276209 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30462810 PMID:30487145 PMID:30515958 PMID:30977832 PMID:31002010 PMID:31110826 PMID:31208162 PMID:31218401 PMID:31291970 PMID:31464105 PMID:31479591 PMID:31525223 PMID:31589614 PMID:31595705 PMID:31604004 PMID:31727138 PMID:31821855 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32202736 PMID:32267248 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32763092 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33046911 PMID:33240318 PMID:33300273 PMID:33400071 PMID:33410562 PMID:33477506 PMID:33502730 PMID:33587123 PMID:33728157 PMID:34015902 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34304300 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34631896 PMID:34764980 PMID:34777243 PMID:34927408 PMID:34992182 PMID:35402560 PMID:36339418 PMID:36407475 PMID:36626423 PMID:36699461 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Andpro
androgen regulated protein
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,718,601...136,725,131
Ensembl chr 3:136,718,602...136,724,966
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Banf2
BANF family member 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,387,107...131,442,837
Ensembl chr 3:131,388,130...131,442,832
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Bfsp1
beaded filament structural protein 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337
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Cd93
CD93 molecule
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,891,859...135,898,378
Ensembl chr 3:135,891,859...135,898,378
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Cfap61
cilia and flagella associated protein 61
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,354,400...133,633,310
Ensembl chr 3:133,354,197...133,633,320
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Crnkl1
crooked neck pre-mRNA splicing factor 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302 Ensembl chr 6:133,337,039...133,354,302
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Cst11
cystatin 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,211,414...136,214,138
Ensembl chr 3:136,211,414...136,214,138
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Cst3
cystatin C
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Cst5
cystatin D
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:137,573,194...137,577,754
Ensembl chr 3:137,573,194...137,577,754
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Cst8
cystatin 8
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,244,586...136,255,412
Ensembl chr 3:136,244,636...136,251,273
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Cst9l
cystatin 9-like
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,288,093...136,290,906
Ensembl chr 3:136,288,093...136,290,906
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Cstl1
cystatin-like 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,199,914...136,204,912
Ensembl chr 3:136,199,914...136,204,912
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Dstn
destrin, actin depolymerizing factor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,284,647...131,311,361
Ensembl chr 3:131,284,648...131,311,379
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Dtd1
D-aminoacyl-tRNA deacylase 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,995,870...132,158,646
Ensembl chr 3:131,995,861...132,158,659
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Dzank1
double zinc ribbon and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,855,890...131,908,217
Ensembl chr 3:131,852,552...131,908,156
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Foxa2
forkhead box A2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,470,123...135,474,326
Ensembl chr 3:135,470,131...135,474,326
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Gzf1
GDNF-inducible zinc finger protein 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,119,004...136,131,223
Ensembl chr 3:136,119,113...136,131,223
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Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
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Insm1
INSM transcriptional repressor 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003
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Kat14
lysine acetyltransferase 14
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Kif16b
kinesin family member 16B
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:129,974,692...130,254,194
Ensembl chr 3:129,974,800...130,254,019
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Kiz
kizuna centrosomal protein
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,277,631...134,385,260
Ensembl chr 3:134,277,687...134,385,190
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Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932
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Naa20
N(alpha)-acetyltransferase 20, NatB catalytic subunit
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009
G
Napb
NSF attachment protein beta
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,132,248...136,179,280
Ensembl chr 3:136,133,428...136,179,345
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Nkx2-2
NK2 homeobox 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,619,701...134,630,282
Ensembl chr 3:134,620,039...134,622,411
G
Nkx2-4
NK2 homeobox 4
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,514,368...134,517,243
Ensembl chr 3:134,515,039...134,516,505
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Nxt1
nuclear transport factor 2-like export factor 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:136,108,975...136,111,897
Ensembl chr 3:136,108,862...136,111,907
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Otor
otoraplin
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:130,415,339...130,418,601
Ensembl chr 3:130,415,339...130,418,601
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Ovol2
ovo-like zinc finger 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,677,391...131,707,123
Ensembl chr 3:131,677,391...131,708,359
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Pax1
paired box 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,792,330...134,801,637
Ensembl chr 3:134,789,182...134,801,636
G
Pcsk2
proprotein convertase subtilisin/kexin type 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
G
Pet117
PET117 cytochrome c oxidase chaperone
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
G
Polr3f
RNA polymerase III subunit F
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,908,466...131,924,838
Ensembl chr 3:131,908,466...131,924,837
G
Ralgapa2
Ral GTPase activating protein catalytic subunit alpha 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,658,725...133,938,821
Ensembl chr 3:133,659,761...133,938,916
G
Rbbp9
RB binding protein 9, serine hydrolase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,925,095...131,939,042
Ensembl chr 3:131,925,341...131,932,156
G
Rin2
Ras and Rab interactor 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604
G
Rrbp1
ribosome binding protein 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,314,996...131,376,930
Ensembl chr 3:131,314,998...131,376,981
G
Scp2d1
SCP2 sterol-binding domain containing 1
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:132,201,979...132,202,729
Ensembl chr 3:132,200,744...132,212,725
G
Sec23b
Sec23 homolog B, COPII coat complex component
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489
G
Slc24a3
solute carrier family 24 member 3
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
G
Snrpb2
small nuclear ribonucleoprotein polypeptide B2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:130,399,239...130,408,821
Ensembl chr 3:130,399,248...130,408,812
G
Snx5
sorting nexin 5
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,621,875...131,641,127
Ensembl chr 3:131,621,880...131,641,192
G
Sstr4
somatostatin receptor 4
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
G
Thbd
thrombomodulin
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
G
Xrn2
5'-3' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
G
Zfp133
zinc finger protein 133
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1
ClinVar
PMID:38605124
NCBI chr 3:131,829,404...131,847,552
Ensembl chr 3:131,829,404...131,847,550
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2
ClinVar
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 PMID:29893194 PMID:32935446 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2
ClinVar OMIM
PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 PMID:10338089 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15504982 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15807877 PMID:15855351 PMID:15886397 PMID:15998776 PMID:16357843 PMID:16416420 PMID:16455067 PMID:16670688 PMID:17114887 PMID:17257281 PMID:17316607 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17673911 PMID:17823772 PMID:17956278 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18596924 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20032456 PMID:20049716 PMID:20301620 PMID:20424228 PMID:20589481 PMID:20685672 PMID:20686794 PMID:20694718 PMID:20980454 PMID:21115269 PMID:21119644 PMID:21422196 PMID:21544516 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22958899 PMID:23226049 PMID:23275527 PMID:23345197 PMID:23700433 PMID:24018988 PMID:24383515 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24686051 PMID:24698822 PMID:25247988 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26545876 PMID:26740944 PMID:27118464 PMID:27188453 PMID:27908292 PMID:28123437 PMID:28352326 PMID:28442472 PMID:28492532 PMID:28938416 PMID:29216354 PMID:29893194 PMID:30026763 PMID:30297969 PMID:30377186 PMID:30873120 PMID:31291970 PMID:31464105 PMID:32027066 PMID:32935446 PMID:33324081 PMID:33762279 PMID:33853507 PMID:34737607 PMID:35402560 PMID:36208030 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Gck
glucokinase
ISO ISS
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3 | ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency OMIM:602485 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1502186 PMID:2555564 PMID:7553875 PMID:7555485 PMID:8068341 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8454109 PMID:8495817 PMID:9049484 PMID:9435328 PMID:9469993 PMID:9536098 PMID:9867845 PMID:10447526 PMID:10455021 PMID:10525657 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11553210 PMID:11916951 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:14687251 PMID:15277402 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:15987895 PMID:16963153 PMID:16965331 PMID:17082186 PMID:17353190 PMID:17573900 PMID:17576681 PMID:17937063 PMID:18271687 PMID:19146401 PMID:19790256 PMID:20132997 PMID:20301620 PMID:20375417 PMID:21569204 PMID:21604084 PMID:21720051 PMID:21831042 PMID:22060211 PMID:22194744 PMID:22335469 PMID:22493702 PMID:22611063 PMID:23771925 PMID:24097065 PMID:24323243 PMID:24518839 PMID:24578721 PMID:24728127 PMID:24735133 PMID:25015100 PMID:25741868 PMID:25850297 PMID:26467025 PMID:27269892 PMID:27913849 PMID:28492532 PMID:29056535 PMID:29510678 PMID:30257192 PMID:31094068 PMID:31197960 PMID:31291970 PMID:31638168 PMID:31957151 PMID:32375122 PMID:32533152 PMID:32792356 PMID:33072637 PMID:33129248 PMID:33852230 PMID:34686905 PMID:34746319 PMID:35472491 PMID:36257325 PMID:37008541 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
OMIM ClinVar CTD
PMID:904979 PMID:8825408 PMID:11489939 PMID:14693719 PMID:16725361 PMID:18414213 PMID:19318379 PMID:19417036 PMID:21252247 PMID:21347589 PMID:22579592 PMID:22662265 PMID:23273570 PMID:23275527 PMID:24686051 PMID:25741868 PMID:27104957 PMID:27771675 PMID:28492532 PMID:29280746 PMID:32876354 PMID:34055426 PMID:34547194 More...
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 | ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency
ClinVar
PMID:2002058 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 PMID:8288049 PMID:15161766 PMID:19135752 PMID:23705494 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2002058 PMID:2170418 PMID:2211730 PMID:2983222 PMID:7042734 PMID:8257688 PMID:8288049 PMID:15161766 PMID:19135752 PMID:23705494 PMID:25741868 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
G
Glud1
glutamate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 PMID:10636977 PMID:10871207 PMID:11214910 PMID:17576681 PMID:18414213 PMID:18928469 PMID:19046187 PMID:19344873 PMID:19690084 PMID:22730017 PMID:23506826 PMID:23869231 PMID:25008049 PMID:25741868 PMID:26467025 PMID:26759084 PMID:26839063 PMID:27188453 PMID:28165182 PMID:28492532 PMID:30252420 PMID:30306091 PMID:30352420 PMID:30425915 PMID:31119523 PMID:34992182 PMID:35951311 PMID:36239000 More...
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
G
Shld2
shieldin complex subunit 2
ISO
ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
G
Slc16a1
solute carrier family 16 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7
OMIM CTD ClinVar
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 PMID:25741868 PMID:25741869 PMID:26595136 PMID:28492532 More...
NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
G
Slc25a36
solute carrier family 25 member 36
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 8
OMIM ClinVar
PMID:34576089 PMID:34971397 PMID:36695547
NCBI chr 8:97,659,848...97,693,735
Ensembl chr 8:97,662,127...97,693,703
G
Atoh7
atonal bHLH transcription factor 7
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:28492532 PMID:31696227
NCBI chr20:25,530,826...25,531,275
Ensembl chr20:25,530,826...25,531,275
G
Nrl
neural retina leucine zipper
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29385733
NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832
G
Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:31696227
NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
G
Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
G
Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: Foveal hypoplasia
ClinVar
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 PMID:9158138 PMID:10766867 PMID:11295837 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:27734839 PMID:28378818 PMID:28492532 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:35803923 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
G
Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
G
Pax6
paired box 6
ISO
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 PMID:10441571 PMID:12634864 PMID:12868034 PMID:14744876 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18332330 PMID:18483559 PMID:18776953 PMID:22361317 PMID:22692063 PMID:23404109 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27013732 PMID:28321846 PMID:28492532 PMID:31161946 PMID:32360764 More...
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
G
Slc38a8
solute carrier family 38, member 8
ISO ISS
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis OMIM:609218 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 PMID:28492532 PMID:28546991 PMID:29345414 PMID:32032626 PMID:32830442 PMID:33498813 PMID:33594928 PMID:33781268 PMID:35029636 More...
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
G
Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia CTD Direct Evidence: marker/mechanism DNA:mutations:cds:multiple (human)
OMIM ClinVar CTD RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 PMID:21327084 More...
RGD:9588626
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
G
Ermap
erythroblast membrane associated protein (Scianna blood group)
ISO
ClinVar Annotator: match by term: Radin blood group
ClinVar
PMID:12393480
NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
G
Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :
RGD
PMID:19129718
RGD:11100009
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Fetal Erythroblastosis
ClinVar
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
G
Slc14a1
solute carrier family 14 member 1 (Kidd blood group)
ISO
ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM
ClinVar
NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
G
Slc29a1
solute carrier family 29 member 1
ISO
ClinVar Annotator: match by term: Fetal Erythroblastosis
ClinVar
NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
G
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 PMID:6409293 PMID:8789457 PMID:9139825 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9393973 PMID:9422505 PMID:9471561 PMID:9482292 PMID:9529365 PMID:9536098 PMID:9600457 PMID:9620796 PMID:9710598 PMID:9716127 PMID:9819448 PMID:9856479 PMID:10049954 PMID:10204859 PMID:10218527 PMID:10353784 PMID:10369869 PMID:10376574 PMID:10377081 PMID:10422812 PMID:10477435 PMID:10501520 PMID:10508996 PMID:10544226 PMID:10556284 PMID:10596881 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10757647 PMID:10782932 PMID:10830906 PMID:10874298 PMID:10903123 PMID:10905664 PMID:10980526 PMID:10982180 PMID:10982182 PMID:10983956 PMID:11032405 PMID:11073548 PMID:11074495 PMID:11102979 PMID:11134236 PMID:11216656 PMID:11313751 PMID:11313763 PMID:11385713 PMID:11386851 PMID:11438992 PMID:11439000 PMID:11483639 PMID:11493200 PMID:11494963 PMID:11551103 PMID:11551104 PMID:11556849 PMID:11584050 PMID:11587277 PMID:11668644 PMID:11698809 PMID:11746015 PMID:11788148 PMID:11807148 PMID:11896458 PMID:11912510 PMID:11918723 PMID:11935342 PMID:11968091 PMID:11977173 PMID:12064630 PMID:12072059 PMID:12081719 PMID:12111646 PMID:12121355 PMID:12167443 PMID:12172392 PMID:12172394 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12239718 PMID:12325027 PMID:12352684 PMID:12384501 PMID:12384781 PMID:12408072 PMID:12417772 PMID:12457154 PMID:12497637 PMID:12505163 PMID:12522556 PMID:12522692 PMID:12548749 PMID:12560944 PMID:12562518 PMID:12666888 PMID:12673800 PMID:12684873 PMID:12746422 PMID:12786762 PMID:12791041 PMID:12792423 PMID:12833397 PMID:12851846 PMID:12865758 PMID:12872268 PMID:12910486 PMID:12925341 PMID:14070830 PMID:14505035 PMID:14643477 PMID:14691997 PMID:14694360 PMID:14722929 PMID:14735592 PMID:14978038 PMID:14985372 PMID:14986832 PMID:15033936 PMID:15070423 PMID:15113126 PMID:15146474 PMID:15150777 PMID:15151513 PMID:15219044 PMID:15235031 PMID:15241677 PMID:15253766 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PMID:22925408 PMID:22975760 PMID:22981120 PMID:22991996 PMID:22995991 PMID:23039283 PMID:23073770 PMID:23141775 PMID:23266159 PMID:23328711 PMID:23477838 PMID:23489192 PMID:23503914 PMID:23504403 PMID:23555729 PMID:23637863 PMID:23638949 PMID:23665763 PMID:23668481 PMID:23680645 PMID:23684175 PMID:23695287 PMID:23757202 PMID:23797420 PMID:23804846 PMID:23826813 PMID:23873582 PMID:23900770 PMID:23924173 PMID:23967136 PMID:24013081 PMID:24033266 PMID:24039984 PMID:24123366 PMID:24156272 PMID:24158611 PMID:24158896 PMID:24256046 PMID:24341454 PMID:24346070 PMID:24367894 PMID:24507663 PMID:24529908 PMID:24551843 PMID:24596593 PMID:24611097 PMID:24612839 PMID:24645897 PMID:24654934 PMID:24706568 PMID:24737404 PMID:24762805 PMID:24774219 PMID:24785414 PMID:24793888 PMID:24840842 PMID:24941117 PMID:24945352 PMID:24949729 PMID:24959830 PMID:25012701 PMID:25085072 PMID:25085637 PMID:25087612 PMID:25149764 PMID:25162826 PMID:25189242 PMID:25214170 PMID:25262649 PMID:25266519 PMID:25270357 PMID:25288386 PMID:25326637 PMID:25365227 PMID:25388846 PMID:25401782 PMID:25447126 PMID:25493717 PMID:25555641 PMID:25575739 PMID:25587757 PMID:25625422 PMID:25628337 PMID:25636251 PMID:25637381 PMID:25708704 PMID:25741868 PMID:25788563 PMID:25808784 PMID:25891447 PMID:25999548 PMID:26004784 PMID:26043044 PMID:26059209 PMID:26061099 PMID:26061264 PMID:26088551 PMID:26095810 PMID:26096904 PMID:26117665 PMID:26119842 PMID:26178431 PMID:26188157 PMID:26236732 PMID:26252218 PMID:26330914 PMID:26336802 PMID:26346709 PMID:26361564 PMID:26381000 PMID:26399936 PMID:26409293 PMID:26444186 PMID:26445815 PMID:26467025 PMID:26482070 PMID:26540915 PMID:26542351 PMID:26553399 PMID:26561413 PMID:26749107 PMID:26763877 PMID:26778469 PMID:26885124 PMID:26896187 PMID:26940866 PMID:26969326 PMID:26990548 PMID:27018795 PMID:27045574 PMID:27057829 PMID:27063752 PMID:27141831 PMID:27153395 PMID:27177978 PMID:27224056 PMID:27247933 PMID:27308839 PMID:27398341 PMID:27481527 PMID:27501294 PMID:27534436 PMID:27610647 PMID:27623246 PMID:27627659 PMID:27785406 PMID:27792752 PMID:27843123 PMID:27843504 PMID:27884173 PMID:27884957 PMID:28008688 PMID:28012523 PMID:28222800 PMID:28271504 PMID:28383030 PMID:28428247 PMID:28489599 PMID:28492532 PMID:28583500 PMID:28651654 PMID:28704896 PMID:28900111 PMID:29062245 PMID:29106882 PMID:29148562 PMID:29293505 PMID:29311818 PMID:29320412 PMID:29362677 PMID:29501291 PMID:29625052 PMID:29773520 PMID:29921236 PMID:29926981 PMID:29986705 PMID:30086704 PMID:30094485 PMID:30146550 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30344259 PMID:30390570 PMID:30431684 PMID:30466042 PMID:30589569 PMID:30693673 PMID:30828346 PMID:30872814 PMID:30896630 PMID:30989077 PMID:31035178 PMID:31099403 PMID:31160754 PMID:31163360 PMID:31195736 PMID:31346875 PMID:31370293 PMID:31541171 PMID:31562289 PMID:31569309 PMID:31589614 PMID:31620164 PMID:31620696 PMID:31827275 PMID:31980526 PMID:31992338 PMID:32090102 PMID:32258544 PMID:32747562 PMID:33096615 PMID:33126609 PMID:33187236 PMID:33333757 PMID:33524517 PMID:33597575 PMID:33614373 PMID:33928925 PMID:34062854 PMID:34335733 PMID:34440441 PMID:34515852 PMID:34581455 PMID:34652575 PMID:35016843 PMID:35396755 PMID:35864128 PMID:95239365 PMID:102185257 PMID:115556849 PMID:163800907 More...
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Serpine1
serpin family E member 1
ISO
RGD
PMID:8981909
RGD:4144850
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sftpa1
surfactant protein A1
ISO
ClinVar Annotator: match by term: Respiratory distress associated with prematurity
ClinVar
PMID:24033266 PMID:25741868
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
G
Sftpc
surfactant protein C
ISO
RGD
PMID:9655740
RGD:4143444
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
G
Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human)
RGD
PMID:9097971
RGD:1599716
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
RGD
PMID:22426483
RGD:8549773
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Kdr
kinase insert domain receptor
ISO
RGD
PMID:22426483
RGD:8549773
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
G
Alb
albumin
disease_progression
ISO
RGD
PMID:17195148
RGD:11036098
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
G
Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
G
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
C13h1orf105
similar to human chromosome 1 open reading frame 105
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
G
Ccbe1
collagen and calcium binding EGF domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911200
NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
G
Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
G
Ctsa
cathepsin A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
G
Dhcr24
24-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
G
Dnah14
dynein axonemal heavy chain 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646
G
Dnah9
dynein, axonemal, heavy chain 9
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564
NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
G
Ehbp1l1
EH domain binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
G
Fen1
flap structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003
G
Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
G
Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
G
Galnt14
polypeptide N-acetylgalactosaminyltransferase 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192
G
Gusb
glucuronidase, beta
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
G
Hba-a3
hemoglobin alpha, adult chain 3
ISO
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 PMID:20412082 PMID:20507641 PMID:20642338 PMID:23822871 PMID:24275569 PMID:24351118 PMID:24829075 PMID:25741868 PMID:26460264 PMID:26467025 PMID:27173219 PMID:27271331 PMID:29749692 PMID:32860378 PMID:33364739 PMID:36900038 More...
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
G
Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Kif19
kinesin family member 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:24549645 PMID:25741868
NCBI chr 4:178,185,418...178,218,484
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Mocs3
molybdenum cofactor synthesis 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890
G
Mybphl
myosin binding protein H-like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824
G
Myo18a
myosin XVIIIa
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:62,654,218...62,755,465
Ensembl chr10:62,654,281...62,755,468
G
Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949 PMID:28492532 PMID:31130284
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
G
Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
G
Neb
nebulin
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 More...
NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
G
Neu1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Pigc
phosphatidylinositol glycan anchor biosynthesis, class C
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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Prpf19
pre-mRNA processing factor 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17339163 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:18678287 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21784453 PMID:21901340 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:10449659 PMID:25741868 PMID:31680349
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27699752 PMID:28323383 PMID:28492532 PMID:30266093 PMID:33190430 PMID:33258288 More...
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Ryr3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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Serpina11
serpin family A member 11
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:7590701
RGD:4143453
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Svopl
SVOP like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949 PMID:28749478
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Ubn1
ubinuclein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010
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Vps13d
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM CTD ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11906189 PMID:11983459 PMID:12105841 PMID:12181437 PMID:12208142 PMID:12485959 PMID:12502904 PMID:14550264 PMID:15304109 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:17850628 PMID:18004206 PMID:18058623 PMID:18414213 PMID:18419642 PMID:19243019 PMID:19325249 PMID:19390945 PMID:19397531 PMID:19830808 PMID:20975617 PMID:21272068 PMID:21297505 PMID:21319362 PMID:21342357 PMID:21726413 PMID:22169899 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23014115 PMID:23099197 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033266 PMID:24033692 PMID:24390994 PMID:24749086 PMID:25200497 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26250421 PMID:26467025 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:27220761 PMID:27264814 PMID:28492532 PMID:28520360 PMID:28585035 PMID:29137095 PMID:30669781 PMID:31450232 PMID:31737051 PMID:31858773 PMID:32860008 PMID:33083013 PMID:34953813 PMID:35257483 PMID:35426266 PMID:35436954 PMID:35781232 More...
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a2
UDP glucuronosyltransferase 1 family, polypeptide A2
ISO
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11906189 PMID:11983459 PMID:12105841 PMID:12181437 PMID:12208142 PMID:12485959 PMID:12502904 PMID:14550264 PMID:15304109 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:17850628 PMID:18004206 PMID:18058623 PMID:18414213 PMID:18419642 PMID:19243019 PMID:19325249 PMID:19390945 PMID:19397531 PMID:19830808 PMID:20975617 PMID:21272068 PMID:21297505 PMID:21319362 PMID:21342357 PMID:21726413 PMID:22169899 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23014115 PMID:23099197 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033266 PMID:24033692 PMID:24390994 PMID:24749086 PMID:25200497 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26250421 PMID:26467025 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:27220761 PMID:27264814 PMID:28492532 PMID:28520360 PMID:28585035 PMID:29137095 PMID:30669781 PMID:31450232 PMID:31737051 PMID:31858773 PMID:32860008 PMID:33083013 PMID:34953813 PMID:35257483 PMID:35426266 PMID:35436954 PMID:35781232 More...
NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a3
UDP glycosyltransferase 1 family, polypeptide A3
ISO
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11906189 PMID:11983459 PMID:12105841 PMID:12181437 PMID:12208142 PMID:12485959 PMID:12502904 PMID:14550264 PMID:15304109 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:17850628 PMID:18004206 PMID:18058623 PMID:18414213 PMID:18419642 PMID:19243019 PMID:19325249 PMID:19390945 PMID:19397531 PMID:19830808 PMID:20975617 PMID:21272068 PMID:21297505 PMID:21319362 PMID:21342357 PMID:21726413 PMID:22169899 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23014115 PMID:23099197 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033266 PMID:24033692 PMID:24390994 PMID:24749086 PMID:25200497 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26250421 PMID:26467025 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:27220761 PMID:27264814 PMID:28492532 PMID:28520360 PMID:28585035 PMID:29137095 PMID:30669781 PMID:31450232 PMID:31737051 PMID:31858773 PMID:32860008 PMID:33083013 PMID:34953813 PMID:35257483 PMID:35426266 PMID:35436954 PMID:35781232 More...
NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a5
UDP glucuronosyltransferase family 1 member A5
ISO
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11906189 PMID:11983459 PMID:12105841 PMID:12181437 PMID:12208142 PMID:12485959 PMID:12502904 PMID:14550264 PMID:15304109 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:17850628 PMID:18004206 PMID:18058623 PMID:18414213 PMID:18419642 PMID:19243019 PMID:19325249 PMID:19390945 PMID:19397531 PMID:19830808 PMID:20975617 PMID:21272068 PMID:21297505 PMID:21319362 PMID:21342357 PMID:21726413 PMID:22169899 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23014115 PMID:23099197 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033266 PMID:24033692 PMID:24390994 PMID:24749086 PMID:25200497 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26250421 PMID:26467025 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:27220761 PMID:27264814 PMID:28492532 PMID:28520360 PMID:28585035 PMID:29137095 PMID:30669781 PMID:31450232 PMID:31737051 PMID:31858773 PMID:32860008 PMID:33083013 PMID:34953813 PMID:35257483 PMID:35426266 PMID:35436954 PMID:35781232 More...
NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a6
UDP glucuronosyltransferase family 1 member A6
ISO
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11906189 PMID:11983459 PMID:12105841 PMID:12181437 PMID:12208142 PMID:12485959 PMID:12502904 PMID:14550264 PMID:15304109 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:17850628 PMID:18004206 PMID:18058623 PMID:18414213 PMID:18419642 PMID:19243019 PMID:19325249 PMID:19390945 PMID:19397531 PMID:19830808 PMID:20975617 PMID:21272068 PMID:21297505 PMID:21319362 PMID:21342357 PMID:21726413 PMID:22169899 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23014115 PMID:23099197 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033266 PMID:24033692 PMID:24390994 PMID:24749086 PMID:25200497 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26250421 PMID:26467025 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:27220761 PMID:27264814 PMID:28492532 PMID:28520360 PMID:28585035 PMID:29137095 PMID:30669781 PMID:31450232 PMID:31737051 PMID:31858773 PMID:32860008 PMID:33083013 PMID:34953813 PMID:35257483 PMID:35426266 PMID:35436954 PMID:35781232 More...
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Ugt1a9
UDP glucuronosyltransferase family 1 member A9
ISO
ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia
ClinVar
PMID:8706880 PMID:9630669 PMID:9784835 PMID:9929972 PMID:10412811 PMID:10472535 PMID:10975608 PMID:11061796 PMID:11182932 PMID:11906189 PMID:11983459 PMID:12105841 PMID:12181437 PMID:12208142 PMID:12485959 PMID:12502904 PMID:14550264 PMID:15304109 PMID:15304120 PMID:15378351 PMID:15712364 PMID:16269258 PMID:16504606 PMID:16610035 PMID:17850628 PMID:18004206 PMID:18058623 PMID:18414213 PMID:18419642 PMID:19243019 PMID:19325249 PMID:19390945 PMID:19397531 PMID:19830808 PMID:20975617 PMID:21272068 PMID:21297505 PMID:21319362 PMID:21342357 PMID:21726413 PMID:22169899 PMID:22325916 PMID:22514612 PMID:22983686 PMID:23014115 PMID:23099197 PMID:23290513 PMID:23403257 PMID:23875061 PMID:23997956 PMID:24033266 PMID:24033692 PMID:24390994 PMID:24749086 PMID:25200497 PMID:25741868 PMID:25993113 PMID:26039129 PMID:26200705 PMID:26250421 PMID:26467025 PMID:26604633 PMID:26697581 PMID:26716871 PMID:26727668 PMID:26830078 PMID:26857783 PMID:27220761 PMID:27264814 PMID:28492532 PMID:28520360 PMID:28585035 PMID:29137095 PMID:30669781 PMID:31450232 PMID:31737051 PMID:31858773 PMID:32860008 PMID:33083013 PMID:34953813 PMID:35257483 PMID:35426266 PMID:35436954 PMID:35781232 More...
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
OMIM ClinVar
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 PMID:22112808 PMID:23001465 PMID:23293122 PMID:23423976 PMID:23470222 PMID:23485543 PMID:24033266 PMID:24518185 PMID:25194629 PMID:25375986 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:26214117 PMID:26787776 PMID:26846157 PMID:27394135 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532 PMID:32375123 PMID:33099630 PMID:33952337 PMID:34307984 PMID:34662328 PMID:34858904 PMID:35956396 PMID:36703897 PMID:37701149 More...
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 PMID:21597970 PMID:24033266 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26787776 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Abcc8
ATP binding cassette subfamily C member 8
ISS ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
MouseDO ClinVar
PMID:1021286 PMID:2198959 PMID:7716548 PMID:8650576 PMID:8751851 PMID:8923011 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10685980 PMID:10720932 PMID:10923633 PMID:11226335 PMID:11272143 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11867634 PMID:11872696 PMID:11999683 PMID:12169627 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16455067 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17823772 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18493152 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:20427569 PMID:20573158 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20943779 PMID:20943781 PMID:21378087 PMID:21422196 PMID:21674179 PMID:21716120 PMID:21835061 PMID:21851374 PMID:21968111 PMID:21978130 PMID:21989597 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22591706 PMID:22704848 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23744072 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24616771 PMID:24686051 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25323548 PMID:25741868 PMID:25765446 PMID:25972930 PMID:26180531 PMID:26379717 PMID:26431509 PMID:26467025 PMID:26740944 PMID:27175728 PMID:27188453 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27754802 PMID:27889714 PMID:27908292 PMID:28492532 PMID:28701683 PMID:29644095 PMID:29893194 PMID:30098243 PMID:30186238 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30977832 PMID:31208162 PMID:31589614 PMID:31604004 PMID:31997554 PMID:32027066 PMID:32041611 PMID:32202736 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32928245 PMID:33046911 PMID:33410562 PMID:34171966 PMID:34426522 PMID:34462253 PMID:34631896 PMID:34764980 PMID:34927408 PMID:36339418 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Gck
glucokinase
ISS
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
MouseDO
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Hadh
hydroxyacyl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
ClinVar
PMID:8825408 PMID:16725361 PMID:19417036 PMID:21347589 PMID:23275527 PMID:25741868 PMID:27104957 PMID:27771675 PMID:28492532 PMID:29280746 PMID:32876354 PMID:34055426 PMID:34547194 More...
NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia
ClinVar
PMID:9867219 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:14871556 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:15886397 PMID:16357843 PMID:16455067 PMID:16670688 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:21119644 PMID:21544516 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:23275527 PMID:24018988 PMID:24401662 PMID:25741868 PMID:25972930 PMID:26448950 PMID:26467025 PMID:27908292 PMID:28123437 PMID:28352326 PMID:28492532 PMID:29893194 PMID:30377186 PMID:32935446 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism
CTD OMIM ClinVar
PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8733126 PMID:8878438 PMID:9011580 PMID:9109436 PMID:9253359 PMID:9395465 PMID:10023897 PMID:10217111 PMID:10770217 PMID:10885494 PMID:10912749 PMID:10971459 PMID:11013439 PMID:11136551 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12733714 PMID:12890593 PMID:14508624 PMID:14997007 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15591042 PMID:15598778 PMID:15699544 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16199547 PMID:16497624 PMID:16642557 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:18219222 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:18938753 PMID:19102677 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:19779033 PMID:20119591 PMID:20164288 PMID:20290361 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22142470 PMID:22192860 PMID:22331334 PMID:22422767 PMID:22789683 PMID:22798347 PMID:23077345 PMID:23372019 PMID:23764372 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:24854525 PMID:24947037 PMID:25091521 PMID:25137426 PMID:25292184 PMID:25420019 PMID:25506941 PMID:25701758 PMID:25705702 PMID:25741868 PMID:25792032 PMID:25828954 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27157104 PMID:27434672 PMID:27666534 PMID:27739473 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:29848507 PMID:30895164 PMID:31189130 PMID:31433868 PMID:31672324 PMID:32347971 PMID:32386559 PMID:32761341 PMID:33258288 PMID:34088669 PMID:34906475 PMID:35300448 PMID:36090548 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
G
Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome
OMIM ClinVar
PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 PMID:33452671 PMID:35144013 More...
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
G
Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:16116617 PMID:19131948 PMID:19890349 PMID:24033266 PMID:25741868 PMID:27025581 PMID:28492532 PMID:31168818 PMID:34008892 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
G
Aloxe3
arachidonate lipoxygenase 3
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:24824130 PMID:26274329 PMID:26578203 PMID:30270455
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
G
Asprv1
aspartic peptidase, retroviral-like 1
ISO
Ichthyosis, ASPRV1-related
OMIA
PMID:28249031 PMID:34796560
NCBI chr 4:119,077,415...119,078,887
Ensembl chr 4:119,077,356...119,078,379
G
Flg
filaggrin
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:25741868
NCBI chr 2:178,884,793...178,912,986
G
Gjb2
gap junction protein, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum:
RGD
PMID:18780604
RGD:12743608
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Il2rb
interleukin 2 receptor subunit beta
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
G
Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:25741868
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
G
Krt2
keratin 2
susceptibility
ISO
DNA:mutations
RGD
PMID:7524919
RGD:1600192
NCBI chr 7:132,940,879...132,948,031
Ensembl chr 7:132,940,862...132,947,963
G
Mdm2
MDM2 proto-oncogene
treatment
IMP ISO
RGD
PMID:24005053 PMID:24005053
RGD:10412066 , RGD:10412066
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
G
Pnpla1
patatin-like phospholipase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ichthyosis
CTD ClinVar
PMID:22246504 PMID:26691440 PMID:26778108
NCBI chr20:6,917,993...6,952,157
Ensembl chr20:6,917,931...6,952,375
G
Spint1
serine peptidase inhibitor, Kunitz type 1
ISO
RGD
PMID:18832587
RGD:10043094
NCBI chr 3:106,231,082...106,244,121
Ensembl chr 3:106,231,444...106,244,119
G
Supv3l1
Suv3 like RNA helicase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19145458
NCBI chr20:30,378,542...30,399,076
Ensembl chr20:30,378,550...30,399,054
G
Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Ichthyosis
ClinVar
PMID:24824130 PMID:25741868
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: IFAP syndrome 2
OMIM ClinVar
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:30431684
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
G
Mbtps2
membrane-bound transcription factor peptidase, site 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome
OMIM CTD ClinVar
PMID:10694306 PMID:19361614 PMID:21426410 PMID:22105905 PMID:24090718 PMID:24313295 PMID:25741868 PMID:28492532 More...
NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
G
Srebf1
sterol regulatory element binding transcription factor 1
ISO
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome
ClinVar
PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
G
Yy2
YY2 transcription factor
ISO
ClinVar Annotator: match by term: IFAP syndrome 1, with or without BRESHECK syndrome
ClinVar
PMID:25741868
NCBI chr X:37,438,425...37,442,047
Ensembl chr X:37,410,811...37,464,430
G
Krt10
keratin 10
ISO
OMIM
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
G
Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Ichthyosis hystrix, Curth Macklin type CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16417221 PMID:21844476 PMID:22834809
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
G
Slc27a4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Ichthyosis prematurity syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 PMID:26783444 PMID:27025581 PMID:27081519 PMID:27224495 PMID:28492532 PMID:30077338 PMID:30536735 PMID:31595490 PMID:31681265 PMID:33935161 More...
NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
G
Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: FLG-related disorders
ClinVar
PMID:17688236 PMID:19654294 PMID:20104584 PMID:20858050 PMID:21120943 PMID:21709188 PMID:23569316 PMID:24728189 PMID:25136594 PMID:25525159 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26681312 PMID:28492532 PMID:29446198 PMID:29487695 PMID:30287823 PMID:33087929 PMID:33471991 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
G
Flg
filaggrin
susceptibility
ISO
DNA:nonsense mutation, deletion:cds, exon:p.R501X, g.2282delCAGT (human) ClinVar Annotator: match by term: Autosomal dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Dominant ichthyosis vulgaris | ClinVar Annotator: match by term: FLG-related condition | ClinVar Annotator: match by term: FLG-related disorders | ClinVar Annotator: match by term: Ichthyosis vulgaris CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 PMID:17291859 PMID:17417636 PMID:18200065 PMID:18239616 PMID:18325573 PMID:18396323 PMID:18662816 PMID:19183181 PMID:19501237 PMID:19663875 PMID:19785597 PMID:19839980 PMID:19874431 PMID:20674819 PMID:21039602 PMID:21377035 PMID:21428977 PMID:21514438 PMID:21923666 PMID:22220561 PMID:22403702 PMID:22407025 PMID:22951058 PMID:22995991 PMID:23039796 PMID:23301728 PMID:23947670 PMID:24033266 PMID:24061166 PMID:24077912 PMID:24565632 PMID:24608987 PMID:24629053 PMID:24920311 PMID:25314673 PMID:25741868 PMID:25997159 PMID:26451970 PMID:27279822 PMID:27363669 PMID:27519469 PMID:28120571 PMID:28143684 PMID:28407221 PMID:28492532 PMID:29056476 PMID:29130490 PMID:29428354 PMID:29444371 PMID:29791750 PMID:30487145 PMID:30665703 PMID:30681730 PMID:31365035 PMID:31637781 PMID:32066784 PMID:33116287 PMID:34008892 PMID:16444271 More...
RGD:1598947
NCBI chr 2:178,884,793...178,912,986
G
Lbr
lamin B receptor
ISS
OMIM:146700
MouseDO
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
G
Klk11
kallikrein related-peptidase 11
ISO
ClinVar Annotator: match by term: Ichthyosis with erythrokeratoderma
OMIM ClinVar
PMID:36689511 PMID:37212630
NCBI chr 1:94,228,741...94,233,281
Ensembl chr 1:94,228,741...94,233,281
G
Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome DNA:deletion, nonsense mutation:exon:200_201delTT(human)
OMIM CTD ClinVar RGD
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532 PMID:15521008 More...
RGD:11341732
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
G
Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: CLDN1-related condition | ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome
ClinVar
PMID:12164927 PMID:15521008 PMID:16619213 PMID:25741868 PMID:28492532
NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
G
Elovl4
ELOVL fatty acid elongase 4
ISO
ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation
OMIM ClinVar
PMID:5048218 PMID:11138005 PMID:22100072 PMID:23509295 PMID:24566826 PMID:24833735 PMID:25326635 PMID:25741868 PMID:28492532 PMID:32211516 More...
NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
G
Elovl1
ELOVL fatty acid elongase 1
ISO
ClinVar Annotator: match by term: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
OMIM ClinVar
PMID:28492532 PMID:29496980 PMID:30487246 PMID:35379526
NCBI chr 5:131,961,478...131,965,961
Ensembl chr 5:131,961,322...131,965,958
G
Stim1
stromal interaction molecule 1
ISO
ClinVar Annotator: match by term: Combined immunodeficiency due to STIM1 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 10 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:24033266 PMID:24621671 PMID:25741868 PMID:25918394 PMID:26560041 PMID:28492532 PMID:31844136 PMID:32098964 PMID:33628209 PMID:35724962 More...
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
G
Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Immunodeficiency 104
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
G
Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: Immunodeficiency 104
OMIM ClinVar
PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 PMID:15661025 PMID:16199547 PMID:16492442 PMID:17201233 PMID:17576681 PMID:17827065 PMID:18403192 PMID:18641513 PMID:19763152 PMID:19890784 PMID:20021794 PMID:20307669 PMID:21664875 PMID:22406018 PMID:23810098 PMID:24033266 PMID:24578017 PMID:24728327 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:27807805 PMID:27833609 PMID:28436970 PMID:28492532 PMID:28747913 PMID:29551298 PMID:30290665 PMID:30778343 PMID:30858051 PMID:31031743 PMID:32445296 PMID:32576985 PMID:32765500 PMID:32888943 PMID:33084842 PMID:33628209 PMID:35418989 More...
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
ClinVar Annotator: match by term: Immunodeficiency 104
ClinVar
PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 PMID:12373647 PMID:15372250 PMID:16199547 PMID:16505159 PMID:17576681 PMID:19111528 PMID:21507955 PMID:25741868 PMID:26915675 PMID:28492532 PMID:31848144 More...
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 104
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 104
ClinVar
PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 PMID:26515615 PMID:28492532 PMID:29772310 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
ClinVar Annotator: match by term: Immunodeficiency 105
OMIM ClinVar
PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 PMID:11528386 PMID:11548742 PMID:11841494 PMID:12373647 PMID:15372250 PMID:16505159 PMID:19111528 PMID:21507955 PMID:22689986 PMID:25741868 PMID:26915675 PMID:28492532 More...
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Amz1
archaelysin family metallopeptidase 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency
ClinVar
PMID:28492532
NCBI chr12:13,886,518...13,924,275
Ensembl chr12:13,891,123...13,909,783
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Brat1
BRCA1-associated ATM activator 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency
ClinVar
PMID:28492532
NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
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Card11
caspase recruitment domain family, member 11
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18323416 PMID:23027925 PMID:23129749 PMID:23149938 PMID:23374270 PMID:23561803 PMID:24033266 PMID:24728327 PMID:25087226 PMID:25352053 PMID:25741868 PMID:25930198 PMID:26289640 PMID:26861442 PMID:28492532 PMID:28628108 PMID:28824638 PMID:28826773 PMID:29472930 PMID:30170123 PMID:30894704 PMID:33202260 PMID:33425813 PMID:34573280 PMID:34975878 PMID:35753512 More...
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Gna12
G protein subunit alpha 12
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency
ClinVar
PMID:28492532
NCBI chr12:13,805,580...13,886,255
Ensembl chr12:13,805,698...13,886,255
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Iqce
IQ motif containing E
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency
ClinVar
PMID:28492532
NCBI chr12:13,943,290...13,982,708
Ensembl chr12:13,943,487...13,982,693
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Ttyh3
tweety family member 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency
ClinVar
PMID:28492532
NCBI chr12:13,996,831...14,025,457
Ensembl chr12:13,997,045...14,025,459
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Ank1
ankyrin 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
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Ap3m2
adaptor related protein complex 3 subunit mu 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,217,526...69,237,372
Ensembl chr16:69,217,633...69,235,431
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Chrna6
cholinergic receptor nicotinic alpha 6 subunit
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
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Chrnb3
cholinergic receptor nicotinic beta 3 subunit
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
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Dkk4
dickkopf WNT signaling pathway inhibitor 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,403,215...69,406,580
Ensembl chr16:69,402,989...69,406,580
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Fnta
farnesyltransferase, CAAX box, subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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Hgsnat
heparan-alpha-glucosaminide N-acetyltransferase
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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Hook3
hook microtubule-tethering protein 3
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10195897 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24369075 PMID:24679846 PMID:25139357 PMID:25216719 PMID:25741868 PMID:26122175 PMID:28492532 PMID:30335863 PMID:30337470 PMID:32117824 More...
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Kat6a
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Plat
plasminogen activator, tissue type
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Polb
DNA polymerase beta
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,379,438...69,402,710
Ensembl chr16:69,379,400...69,404,812
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Pomk
protein-O-mannose kinase
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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Rnf170
ring finger protein 170
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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Slc20a2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
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Smim19
small integral membrane protein 19
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,551,507...69,564,323
Ensembl chr16:69,553,916...69,567,245
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Thap1
THAP domain containing 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
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Vdac3
voltage-dependent anion channel 3
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15B
ClinVar
PMID:28492532
NCBI chr16:69,434,982...69,451,473
Ensembl chr16:69,435,005...69,451,471
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Abcg4
ATP binding cassette subfamily G member 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa4
apolipoprotein A4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoc3
apolipoprotein C3
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Arcn1
archain 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Arhgef12
Rho guanine nucleotide exchange factor 12
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
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Atp5mg
ATP synthase membrane subunit G
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
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Bace1
beta-secretase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Bcl9l
BCL9 like
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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C1qtnf5
C1q and TNF related 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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C2cd2l
C2CD2-like
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunodeficiency 19
OMIM CTD ClinVar
PMID:1635567 PMID:8490660 PMID:9536098 PMID:10935641 PMID:14602880 PMID:15546002 PMID:16199547 PMID:17277165 PMID:17576681 PMID:21883749 PMID:21926461 PMID:22039266 PMID:23336327 PMID:24216686 PMID:24290291 PMID:24910257 PMID:25344390 PMID:25373860 PMID:25741868 PMID:26822028 PMID:27807805 PMID:28492532 PMID:31031743 More...
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
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Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Cenatac
centrosomal AT-AC splicing factor
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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Cep164
centrosomal protein 164
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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Cxcr5
C-X-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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Drc12
dynein regulatory complex subunit 12 homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
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Dscaml1
DS cell adhesion molecule-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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Foxr1
forkhead box R1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
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Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
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Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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Grik4
glutamate ionotropic receptor kainate type subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
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H2ax
H2A.X variant histone
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
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Hinfp
histone H4 transcription factor
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
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Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Ift46
intraflagellar transport 46
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
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Il10ra
interleukin 10 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Jaml
junction adhesion molecule like
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
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Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
G
Mcam
melanoma cell adhesion molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Mfrp
membrane frizzled-related protein
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
G
Mpzl2
myelin protein zero-like 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
G
Mpzl3
myelin protein zero-like 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
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Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Nherf4
NHERF family PDZ scaffold protein 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
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Nlrx1
NLR family member X1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
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Oaf
out at first homolog
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
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Pafah1b2
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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Pcsk7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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Phldb1
pleckstrin homology-like domain, family B, member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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Pou2f3
POU class 2 homeobox 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
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Rnf214
ring finger protein 214
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
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Rnf26
ring finger protein 26
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
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Rps25
ribosomal protein s25
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
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Sc5d
sterol-C5-desaturase
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
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Scn2b
sodium voltage-gated channel beta subunit 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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Scn4b
sodium voltage-gated channel beta subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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Sidt2
SID1 transmembrane family, member 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sik3
SIK family kinase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Slc37a4
solute carrier family 37 member 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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Sorl1
sortilin related receptor 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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Tagln
transgelin
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tbcel
tubulin folding cofactor E-like
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
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Tecta
tectorin alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Thy1
Thy-1 cell surface antigen
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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Tlcd5
TLC domain containing 5
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
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Tmem25
transmembrane protein 25
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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Tmprss13
transmembrane serine protease 13
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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Tmprss4
transmembrane serine protease 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Treh
trehalase
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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Trim29
tripartite motif-containing 29
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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Ttc36
tetratricopeptide repeat domain 36
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,112,737...45,116,345
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Ube4a
ubiquitination factor E4A
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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Upk2
uroplakin 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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Usp2
ubiquitin specific peptidase 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:28492532
NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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Vps11
VPS11 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Immunodeficiency 19
ClinVar
PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 More...
NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
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Lck
LCK proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to LCK deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22985903 PMID:25741868 PMID:27087313 PMID:28492532 PMID:37962568 PMID:38112969 PMID:38225415 More...
NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794
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Ctps1
CTP synthase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24870241 PMID:25741868 PMID:27638562 PMID:28492532 PMID:30899265 PMID:32161190 More...
NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
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Scmh1
Scm polycomb group protein homolog 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency
ClinVar
PMID:28492532
NCBI chr 5:133,991,167...134,115,893
Ensembl chr 5:133,990,520...134,122,105
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Slfnl1
schlafen-like 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to CTPS1 deficiency
ClinVar
PMID:28492532
NCBI chr 5:134,117,634...134,122,105
Ensembl chr 5:133,990,520...134,122,105
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Clxn
calaxin
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency
ClinVar
PMID:28492532
NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538
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Mcm4
minichromosome maintenance complex component 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency
ClinVar
PMID:28492532
NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 PMID:25640679 PMID:25741868 PMID:25842288 PMID:26122175 PMID:28492532 PMID:29987844 PMID:30121298 PMID:30778343 More...
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Snai2
snail family transcriptional repressor 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency
ClinVar
PMID:28492532
NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200
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Ube2v2
ubiquitin conjugating enzyme E2 V2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency
ClinVar
PMID:28492532
NCBI chr11:85,304,528...85,338,430
Ensembl chr11:85,304,526...85,336,369
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISO
ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: Immunodeficiency 48 | ClinVar Annotator: match by term: ZAP70-Related Severe Combined Immunodeficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8124727 PMID:8202712 PMID:8202713 PMID:9536098 PMID:10574909 PMID:11412303 PMID:16199547 PMID:17576681 PMID:20301777 PMID:21441961 PMID:24033266 PMID:24164480 PMID:25627829 PMID:25741868 PMID:26783323 PMID:27448562 PMID:28124082 PMID:28216435 PMID:28492532 PMID:29684201 PMID:30778343 PMID:33184721 PMID:35503492 PMID:37313400 More...
NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
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Orai1
ORAI calcium release-activated calcium modulator 1
ISO
ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7531512 PMID:7798233 PMID:8814256 PMID:16582901 PMID:18187424 PMID:19182790 PMID:20004786 PMID:23447534 PMID:23613525 PMID:23943619 PMID:24033266 PMID:25227914 PMID:25741868 PMID:26070885 PMID:26138675 PMID:26546674 PMID:26576490 PMID:26809793 PMID:27063589 PMID:27066545 PMID:28058752 PMID:28492532 PMID:29155098 PMID:29184031 PMID:30243034 PMID:30382595 PMID:30831274 PMID:31036819 PMID:33361160 PMID:35960392 More...
NCBI chr12:33,533,151...33,548,361
Ensembl chr12:33,534,344...33,548,405
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Extl3
exostosin-like glycosyltransferase 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Immunoskeletal dysplasia with neurodevelopmental abnormalities
OMIM CTD ClinVar
PMID:25741868 PMID:28132690 PMID:28148688 PMID:28492532
NCBI chr15:39,294,033...39,384,086
Ensembl chr15:39,293,605...39,338,898
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD ClinVar
PMID:24033266 PMID:25741868
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Six6
SIX homeobox 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548
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Six6os1
Six6 opposite strand transcript 1
ISO
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
ClinVar
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532
NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148
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B3galnt2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome
ClinVar
PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 PMID:25741868 PMID:27666369 More...
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1
OMIM CTD ClinVar
PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 PMID:16199547 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 PMID:26336027 PMID:27666369 PMID:28492532 PMID:30080992 PMID:30638765 PMID:33652732 PMID:34134906 PMID:34356170 PMID:35432193 More...
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Fam111a
FAM111 trypsin like peptidase A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome
OMIM CTD ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 PMID:28492532 PMID:29073591 PMID:32996714 More...
NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome
ClinVar
PMID:22567369
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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C12h12orf43
similar to human chromosome 12 open reading frame 43
ISO
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
ClinVar
PMID:30561130
NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
ClinVar
PMID:30561130
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Vps33b
VPS33B, late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
OMIM ClinVar
PMID:25741868 PMID:28017832
NCBI chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970
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Lrp1
LDL receptor related protein 1
ISO
ClinVar Annotator: match by term: Keratosis pilaris atrophicans CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20194756 PMID:28167773
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Kniest dysplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098 PMID:10406661 PMID:11297324 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30408610 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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Hspg2
heparan sulfate proteoglycan 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 PMID:20542149 PMID:23836246 PMID:24011702 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:31127727 PMID:34244600 PMID:34906502 PMID:35982159 More...
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Ldlrad2
low density lipoprotein receptor class A domain containing 2
ISO
ClinVar Annotator: match by term: Lethal Kniest-like syndrome
ClinVar
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140
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Asprv1
aspartic peptidase, retroviral-like 1
ISO
ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis
OMIM ClinVar
PMID:6499258 PMID:32516568
NCBI chr 4:119,077,415...119,078,887
Ensembl chr 4:119,077,356...119,078,379
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Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Lymphatic malformation 12
OMIM ClinVar
PMID:25741868 PMID:35235341
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 13
OMIM ClinVar
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Calcrl
calcitonin receptor like receptor
ISO
ClinVar Annotator: match by term: Lymphatic malformation 8
OMIM ClinVar
PMID:25741868
NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
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Agt
angiotensinogen
IEP
mRNA:increased expression:lung
RGD
PMID:14605247
RGD:11039054
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr2
angiotensin II receptor, type 2
treatment
IMP
RGD
PMID:14605247
RGD:11039054
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Atf2
activating transcription factor 2
ISS
MouseDO
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Scgb1a1
secretoglobin family 1A member 1
ISO
protein:increased expression:broncho-alveolar lavage fluid, meconium
RGD
PMID:21567110
RGD:5144123
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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C4h12orf60
similar to human chromosome 12 open reading frame 60
ISO
ClinVar Annotator: match by term: Meconium ileus
ClinVar
PMID:22521417 PMID:25370039
NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
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Gucy2c
guanylate cyclase 2C
ISO
ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus
OMIM ClinVar
PMID:4006357 PMID:22521417 PMID:24033266 PMID:25370039 PMID:25741868 PMID:28492532 PMID:33223529 PMID:33883099 More...
NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
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Hfe
homeostatic iron regulator
ISO
associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human)
RGD
PMID:30291871
RGD:14701045
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Psmb8
proteasome 20S subunit beta 8
ISO
ClinVar Annotator: match by term: MHC class I deficiency
ClinVar
PMID:28492532
NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 PMID:10074495 PMID:15897556 PMID:16199547 PMID:16299152 PMID:16624613 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 PMID:12067308 PMID:16199547 PMID:17576681 PMID:23662797 PMID:24033266 PMID:25741868 PMID:26122175 PMID:28492532 More...
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tapbp
TAP binding protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency
CTD ClinVar
PMID:9536098 PMID:12149238 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181
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Abat
4-aminobutyrate aminotransferase
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Adam15
ADAM metallopeptidase domain 15
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
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Adamtsl4
ADAMTS-like 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Anp32e
acidic nuclear phosphoprotein 32 family member E
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
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Anxa9
annexin A9
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
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Aph1a
aph-1 homolog A, gamma secretase subunit
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
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Aqp10
aquaporin 10
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
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Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
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Arnt
aryl hydrocarbon receptor nuclear translocator
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Ash1l
ASH1 like histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
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Atf7ip2
activating transcription factor 7 interacting protein 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:5,403,099...5,445,989
Ensembl chr10:5,403,105...5,446,142
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Atp8b2
ATPase phospholipid transporting 8B2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
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Bcan
brevican
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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Bglap
bone gamma-carboxyglutamate protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Bnipl
BCL2 interacting protein like
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
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C2cd4d
C2 calcium-dependent domain containing 4D
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087
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C2h1orf54
similar to human chromosome 1 open reading frame 54
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089
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C2h1orf56
similar to human chromosome 1 open reading frame 56
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512
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Car14
carbonic anhydrase 14
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,442,263...183,449,231
Ensembl chr 2:183,441,667...183,449,693
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Carhsp1
calcium regulated heat stable protein 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
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Cct3
chaperonin containing TCP1 subunit 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,765,701...173,790,353
Ensembl chr 2:173,765,698...173,790,757
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Cdc42se1
CDC42 small effector 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,805,691...182,813,520
Ensembl chr 2:182,804,925...182,814,028
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Celf3
CUGBP, Elav-like family member 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,116,034...182,130,163
Ensembl chr 2:182,116,073...182,130,163
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Cers2
ceramide synthase 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,890,527...182,898,805
Ensembl chr 2:182,890,493...182,933,314
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Cfap141
cilia and flagella associated protein 141
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,507,628...175,510,662
Ensembl chr 2:175,507,628...175,510,662
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Cgn
cingulin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,308,389...182,335,747
Ensembl chr 2:182,308,714...182,334,645
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Chrnb2
cholinergic receptor nicotinic beta 2 subunit
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
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Chtop
chromatin target of PRMT1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,981,266...175,992,820
Ensembl chr 2:175,981,271...175,992,748
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Ciart
circadian associated repressor of transcription
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,419,819...183,424,845
Ensembl chr 2:183,419,819...183,423,313
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Ciita
class II, major histocompatibility complex, transactivator
severity
ISO ISS
DNA:nonsense mutation:CDS:c.1256G>T, p.E381X (allele 1); DNA:splice-site mutation/deletion:CDS:p.D1078E/c.3349_3432del, p.1079_1106del (allele 2) (human) ClinVar Annotator: match by term: Bare lymphocyte syndrome type 2, complementation group A | ClinVar Annotator: match by term: MHC class II deficiency OMIM:209920 CTD Direct Evidence: marker/mechanism DNA:mutation:CDS:c.1524T>C, p.L469P associated with mild or asymptomatic disease despite absence of MHC-II expression on immune cells (human)
OMIM ClinVar MouseDO CTD RGD
PMID:8402893 PMID:9099848 PMID:9536098 PMID:11704716 PMID:11862382 PMID:15897313 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24044430 PMID:25741868 PMID:26271388 PMID:27484032 PMID:28492532 PMID:29095814 PMID:30609409 PMID:30778343 PMID:31980526 PMID:33386785 PMID:9099848 PMID:11466404 More...
RGD:1600188 , RGD:5491200
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Cks1b
CDC28 protein kinase regulatory subunit 1B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,833,025...174,837,614
Ensembl chr 2:174,833,050...174,837,636
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Clec16a
C-type lectin domain containing 16A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,927,799...5,123,749
Ensembl chr10:4,928,030...5,123,578
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Clk2
CDC-like kinase 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,570,614...174,582,645
Ensembl chr 2:174,570,653...174,588,985
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Crabp2
cellular retinoic acid binding protein 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,417,004...173,421,352
Ensembl chr 2:173,416,857...173,421,379
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Crct1
cysteine-rich C-terminal 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,633,789...178,635,274
Ensembl chr 2:178,634,092...178,634,394
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Creb3l4
cAMP responsive element binding protein 3-like 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932
G
Crnn
cornulin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,733,329...178,736,404
Ensembl chr 2:178,731,796...178,736,216
G
Crtc2
CREB regulated transcription coactivator 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763
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Ctsk
cathepsin K
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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Ctss
cathepsin S
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,086,437...183,114,483
Ensembl chr 2:183,086,437...183,114,483
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Dap3
death associated protein 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461
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Dcst1
DC-STAMP domain containing 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,765,203...174,784,023
Ensembl chr 2:174,765,350...174,781,806
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Dcst2
DC-STAMP domain containing 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,781,806...174,795,834
Ensembl chr 2:174,781,902...174,795,832
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Dennd4b
DENN domain containing 4B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426
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Dexi
Dexi homolog
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:5,126,021...5,138,746
Ensembl chr10:5,137,288...5,138,738
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Dpm3
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668 Ensembl chr15:174,676,363...174,677,668
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Ecm1
extracellular matrix protein 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
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Efna1
ephrin A1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,681,676...174,689,061
Ensembl chr 2:174,681,682...174,690,866
G
Efna3
ephrin A3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,729,192...174,738,111
Ensembl chr 2:174,729,764...174,738,736
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Efna4
ephrin A4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,748,729...174,752,979
Ensembl chr 2:174,748,724...174,752,979
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Emp2
epithelial membrane protein 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532
NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733
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Ensa
endosulfine alpha
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,185,552...183,192,888
Ensembl chr 2:183,185,552...183,194,847
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Entrep3
endosomal transmembrane epsin interactor 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,588,984...174,595,281
Ensembl chr 2:174,589,337...174,595,281
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Fdps
farnesyl diphosphate synthase
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
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Flad1
flavin adenine dinucleotide synthetase 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,819,451...174,828,921
Ensembl chr 2:174,819,453...174,828,977
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Flg
filaggrin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,884,793...178,912,986
G
Flg2
filaggrin 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,789,792...178,802,232
G
Gabpb2
GA binding protein transcription factor subunit beta 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,755,304...182,795,368
Ensembl chr 2:182,761,359...182,795,109
G
Gatad2b
GATA zinc finger domain containing 2B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542
G
Gba1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
G
Glmp
glycosylated lysosomal membrane protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,794,273...173,797,863
Ensembl chr 2:173,794,255...173,799,960
G
Golph3l
golgi phosphoprotein 3-like
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,151,941...183,183,094
Ensembl chr 2:183,153,301...183,183,083
G
Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
G
Gpatch4
G patch domain containing 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,499,700...173,520,346
Ensembl chr 2:173,509,897...173,518,684
G
Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
G
Hapln2
hyaluronan and proteoglycan link protein 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,488,909...173,496,824
Ensembl chr 2:173,491,160...173,496,588
G
Hapstr1
HUWE1 associated protein modifying stress responses
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
G
Hax1
HCLS1 associated protein X-1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714
G
Hcn3
hyperpolarization-activated cyclic nucleotide-gated potassium channel 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,551,861...174,567,459
Ensembl chr 2:174,551,680...174,565,966
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Hdgf
heparin binding growth factor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,370,147...173,379,756
Ensembl chr 2:173,370,465...173,379,747
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Hormad1
HORMA domain containing 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,115,815...183,152,383
Ensembl chr 2:183,116,716...183,152,383
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Hrnr
hornerin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
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Il6r
interleukin 6 receptor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
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Ilf2
interleukin enhancer binding factor 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,952,174...175,971,191
Ensembl chr 2:175,952,186...175,971,337
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Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
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Ints3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
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Iqgap3
IQ motif containing GTPase activating protein 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,542,151...173,583,956
Ensembl chr 2:173,542,110...173,583,956
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Isg20l2
interferon stimulated exonuclease gene 20-like 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,396,780...173,407,102
Ensembl chr 2:173,396,780...173,406,614
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Ivl
involucrin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
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Jtb
jumping translocation breakpoint
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108
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Kcnn3
potassium calcium-activated channel subfamily N member 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145
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Khdc4
KH domain containing 4, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504
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Kplce
KPRP N-terminal and LCE C-terminal like protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,481,482...178,483,434
Ensembl chr 2:178,481,373...178,483,424
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Kprp
keratinocyte proline-rich protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,429,923...178,434,221
Ensembl chr 2:178,429,923...178,434,221
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Krtcap2
keratinocyte associated protein 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,654,409...174,658,405
Ensembl chr 2:174,654,219...174,658,405
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Lamtor2
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013
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Lce1b
late cornified envelope 1B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,255,351...178,257,533
Ensembl chr 2:178,256,213...178,257,985
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Lce1e
late cornified envelope 1E
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,462,100...178,463,433
Ensembl chr 2:178,462,100...178,463,433
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Lce1f
late cornified envelope 1F
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,305,786...178,307,372
Ensembl chr 2:178,305,786...178,307,372
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Lce1m
late cornified envelope 1M
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,637,495...178,638,697
Ensembl chr 2:178,637,495...178,638,697
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Lce3e
late cornified envelope 3E
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,578,488...178,579,661
Ensembl chr 2:178,579,162...178,579,458
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Lce6a
late cornified envelope 6A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,194,148...178,195,234
Ensembl chr 2:178,194,318...178,194,563
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Lenep
lens epithelial protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,819,439...174,820,127
Ensembl chr 2:174,819,459...174,820,127
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Lingo4
leucine rich repeat and Ig domain containing 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,035,522...182,040,787
Ensembl chr 2:182,014,326...182,040,787
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Litaf
lipopolysaccharide-induced TNF factor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,656,308...4,692,981
Ensembl chr10:4,625,552...4,692,763
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Lmna
lamin A/C
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Loricrin
loricrin cornified envelope precursor protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807
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Lysmd1
LysM domain containing 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mef2d
myocyte enhancer factor 2D
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457
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Mettl25b
methyltransferase like 25B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,388,625...173,397,279
Ensembl chr 2:173,388,625...173,397,279
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Mex3a
mex-3 RNA binding family member A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377
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Mindy1
MINDY lysine 48 deubiquitinase 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,859,977...182,873,000
Ensembl chr 2:182,860,472...182,873,015
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Mllt11
MLLT11, transcription factor 7 cofactor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
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mrpl24
mitochondrial ribosomal protein L24
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,383,062...173,389,249
Ensembl chr 2:173,383,224...173,389,248
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mrpl9
mitochondrial ribosomal protein L9
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,082,012...182,086,758
Ensembl chr 2:182,076,369...182,087,095
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Mrps21
mitochondrial ribosomal protein S21
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,406,791...183,414,413
Ensembl chr 2:183,406,792...183,414,372
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Msto1
misato mitochondrial distribution and morphology regulator 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216
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Mtmr11
myotubularin related protein 11
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,721,983...183,732,148
Ensembl chr 2:183,723,530...183,732,148
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Mtx1
Metaxin 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,615,460...174,621,383
Ensembl chr 2:174,615,461...174,620,982
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Muc1
mucin 1, cell surface associated
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
G
Nes
nestin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
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Npr1
natriuretic peptide receptor 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,934,181...175,950,118
Ensembl chr 2:175,934,181...175,949,505
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
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Ns5atp4
NS5A transactivated protein 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,494,406...175,507,281
Ensembl chr 2:175,494,304...175,510,663
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
G
Nubp1
NUBP iron-sulfur cluster assembly factor 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532
NCBI chr10:5,259,328...5,270,848
G
Nup210l
nucleoporin 210-like
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332
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Oaz3
ornithine decarboxylase antizyme 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,073,212...182,076,147
Ensembl chr 2:182,073,215...182,082,399
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Otud7b
OTU deubiquitinase 7B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,661,955...183,722,584
Ensembl chr 2:183,662,163...183,718,674
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Paqr6
progestin and adipoQ receptor family member 6
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,832,241...173,838,443
Ensembl chr 2:173,833,880...173,838,456
G
Pbxip1
PBX homeobox interacting protein 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,856,339...174,868,922
Ensembl chr 2:174,856,397...174,868,919
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Pglyrp3
peptidoglycan recognition protein 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,479,693...177,490,769
Ensembl chr 2:177,477,407...177,490,736 Ensembl chr 2:177,477,407...177,490,736
G
Pglyrp4
peptidoglycan recognition protein 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,202,654...176,322,859
Ensembl chr 2:176,218,519...176,242,251
G
Pi4kb
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488
G
Pip5k1a
phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,628,299...182,671,584
Ensembl chr 2:182,628,300...182,671,598
G
Pklr
pyruvate kinase L/R
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,543,008...174,551,863
Ensembl chr 2:174,543,039...174,551,870
G
Plekho1
pleckstrin homology domain containing O1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,544,487...183,552,928
Ensembl chr 2:183,544,499...183,552,785
G
Pmf1
polyamine-modulated factor 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,848,074...173,868,272
Ensembl chr 2:173,848,074...173,868,270
G
Pmm2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
G
Pmvk
phosphomevalonate kinase
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,876,586...174,886,365
Ensembl chr 2:174,876,657...174,886,364
G
Pogz
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,394,269...182,440,711
Ensembl chr 2:182,380,768...182,440,707
G
Prcc
proline rich mitotic checkpoint control factor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,326,261...173,351,799
Ensembl chr 2:173,326,259...173,351,825
G
Prm1
protamine 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,871,817...4,872,312
G
Prm2
protamine 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,876,285...4,877,026
Ensembl chr10:4,873,372...4,877,026
G
Prm3
protamine 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,877,471...4,877,985
Ensembl chr10:4,877,471...4,877,985
G
Prpf3
pre-mRNA processing factor 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
G
Prr9
proline rich 9
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,599,483...177,600,849
Ensembl chr 2:177,599,483...177,600,849
G
Prune1
prune exopolyphosphatase 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,830,575...182,859,972
Ensembl chr 2:182,830,578...182,859,336
G
Psmb4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,442,757...182,445,532
Ensembl chr 2:182,442,756...182,445,746
G
Psmd4
proteasome 26S subunit ubiquitin receptor, non-ATPase 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,598,934...182,608,250
Ensembl chr 2:182,598,934...182,608,194
G
Pygo2
pygopus family PHD finger 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,849,670...174,854,758
Ensembl chr 2:174,849,936...174,854,758
G
Rab13
RAB13, member RAS oncogene family
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036
G
Rab25
RAB25, member RAS oncogene family
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422
G
Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:7744245 PMID:9401005 PMID:9536098 PMID:10079298 PMID:10395672 PMID:12368908 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26193622 PMID:28492532 PMID:29527204 PMID:30084052 PMID:30170160 PMID:32888943 More...
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
G
Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:7951244 PMID:9536098 PMID:9806546 PMID:10725724 PMID:10803838 PMID:11313409 PMID:11463838 PMID:12618906 PMID:16166641 PMID:16199547 PMID:17576681 PMID:21908431 PMID:22524894 PMID:22863278 PMID:24033266 PMID:25741868 PMID:27980538 PMID:28492532 PMID:28916186 PMID:30170160 PMID:32373116 PMID:34330684 More...
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
G
Rfxap
regulatory factor X-associated protein
ISO
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome, Type II, Complementation Group D | ClinVar Annotator: match by term: MHC class II deficiency | ClinVar Annotator: match by term: SCID, HLA Class 2-Negative CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:650344 PMID:7021490 PMID:9118943 PMID:9287230 PMID:9536098 PMID:12498778 PMID:17576681 PMID:20197681 PMID:22390233 PMID:25741868 PMID:28492532 PMID:31589614 More...
NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259
G
Rhbg
Rh family B glycoprotein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,704,852...173,717,380
Ensembl chr 2:173,704,562...173,717,321
G
Riiad1
regulatory subunit of type II PKA R-subunit domain containing 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,099,924...182,110,544
Ensembl chr 2:182,101,795...182,110,319
G
Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
G
Rmi2
RecQ mediated genome instability 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,829,333...4,837,264
Ensembl chr10:4,830,553...4,837,235
G
Rorc
RAR-related orphan receptor C
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
G
Rprd2
regulation of nuclear pre-mRNA domain containing 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,311,132...183,367,959
Ensembl chr 2:183,293,114...183,367,407
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Rps27
ribosomal protein S27
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
G
Rptn
repetin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:179,061,768...179,066,056
Ensembl chr 2:179,060,017...179,065,910
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Rusc1
RUN and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,487,921...174,497,266
Ensembl chr 2:174,486,665...174,507,776
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Rxfp4
relaxin family peptide/INSL5 receptor 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,123,510...174,124,664
G
S100a1
S100 calcium binding protein A1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,993,922...175,998,765
Ensembl chr 2:175,993,922...175,999,544
G
S100a10
S100 calcium binding protein A10
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
G
S100a11
S100 calcium binding protein A11
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:179,191,688...179,197,098
Ensembl chr 2:179,191,715...179,197,044
G
S100a13
S100 calcium binding protein A13
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,999,439...176,005,933
G
S100a14
S100 calcium binding protein A14
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,008,395...176,010,423
Ensembl chr 2:176,008,395...176,010,423
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S100a16
S100 calcium binding protein A16
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,016,405...176,022,117
Ensembl chr 2:176,016,268...176,022,117
G
S100a2
S100 calcium binding protein A2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,077,081...176,078,325
G
S100a3
S100 calcium binding protein A3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,034,283...176,089,702
Ensembl chr 2:176,049,520...176,089,702
G
S100a4
S100 calcium-binding protein A4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
G
S100a5
S100 calcium binding protein A5
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,095,332...176,099,546
Ensembl chr 2:176,097,539...176,099,546
G
S100a6
S100 calcium binding protein A6
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
G
S100a7a
S100 calcium binding protein A7A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,151,405...176,155,846
Ensembl chr 2:176,151,288...176,156,441
G
S100a8
S100 calcium binding protein A8
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
G
S100a9
S100 calcium binding protein A9
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:176,190,361...176,193,182
Ensembl chr 2:176,190,361...176,193,230
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Scamp3
secretory carrier membrane protein 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,583,124...174,588,984
Ensembl chr 2:174,570,653...174,588,985
G
Selenbp1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,494,004...182,504,594
Ensembl chr 2:182,493,978...182,504,594
G
Sema4a
semaphorin 4A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
G
Sema6c
semaphorin 6C
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,733,635...182,750,066
Ensembl chr 2:182,737,474...182,746,856
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Setdb1
SET domain bifurcated histone lysine methyltransferase 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
G
Sf3b4
splicing factor 3B subunit 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
G
Sh2d2a
SH2 domain containing 2A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,312,253...173,318,810
Ensembl chr 2:173,312,253...173,318,810
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Shc1
SHC adaptor protein 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
G
She
Src homology 2 domain containing E
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,262,431...175,287,807
Ensembl chr 2:175,262,442...175,286,669
G
Slc25a44
solute carrier family 25, member 44
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,868,317...173,883,137
Ensembl chr 2:173,868,320...173,883,020
G
Slc27a3
solute carrier family 27 member 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,853,241...175,857,909
Ensembl chr 2:175,853,241...175,857,909
G
Slc39a1
solute carrier family 39 member 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058
G
Slc50a1
solute carrier family 50 member 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,677,985...174,680,366
Ensembl chr 2:174,677,708...174,680,366
G
Smcp
sperm mitochondria-associated cysteine-rich protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,160,948...178,165,951
Ensembl chr 2:178,160,127...178,166,001
G
Smg5
SMG5 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,804,987...173,832,102
Ensembl chr 2:173,805,019...173,832,102
G
Snapin
SNAP-associated protein
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,971,575...175,974,164
Ensembl chr 2:175,971,257...175,974,231
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Snx27
sorting nexin 27
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,135,904...182,218,906
Ensembl chr 2:182,135,905...182,218,906
G
Socs1
suppressor of cytokine signaling 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Sprr1a
small proline-rich protein 1A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063
G
Sprr1b
small proline-rich protein 1B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,008,844...178,010,742
Ensembl chr 2:178,009,130...178,009,567
G
Sprr2a
small proline rich protein 2A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,815,964...177,816,236
Ensembl chr 2:177,815,964...177,816,236
G
Sprr2a2
small proline-rich protein 2A2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,719,576...177,719,845
Ensembl chr 2:177,719,576...177,719,845
G
Sprr2b
small proline rich protein 2B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,852,824...177,853,096
Ensembl chr 2:177,852,824...177,853,096
G
Sprr2d
small proline-rich protein 2D
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,870,082...177,870,679
Ensembl chr 2:177,870,434...177,870,679
G
Sprr2f
small proline rich protein 2F
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:177,989,974...177,990,204
Ensembl chr 2:177,989,974...177,990,204
G
Sprr3
small proline-rich protein 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,027,743...178,028,501
Ensembl chr 2:178,027,425...178,029,891
G
Sprr4
small proline-rich protein 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:178,082,466...178,083,125
Ensembl chr 2:178,082,871...178,083,104
G
Ssr2
signal sequence receptor subunit 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042
G
Syt11
synaptotagmin 11
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964
G
Tars2
threonyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,293,095...183,310,210
Ensembl chr 2:183,293,097...183,310,184
G
Tchh
trichohyalin
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:179,103,660...179,112,014
Ensembl chr 2:179,109,609...179,110,985 Ensembl chr 2:179,109,609...179,110,985
G
Tchhl1
trichohyalin-like 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202
G
Tdrkh
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,049,175...182,071,516
Ensembl chr 2:182,049,215...182,070,755
G
Tekt5
tektin 5
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532
NCBI chr10:5,279,856...5,316,619
Ensembl chr10:5,279,893...5,316,619
G
Thbs3
thrombospondin 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,621,788...174,633,594
Ensembl chr 2:174,621,812...174,633,594
G
Them4
thioesterase superfamily member 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:181,953,550...181,974,708
Ensembl chr 2:181,953,550...181,974,708
G
Them5
thioesterase superfamily member 5
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:181,980,783...181,986,002
Ensembl chr 2:181,980,783...181,986,002
G
Tmem186
transmembrane protein 186
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
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Tmem79
transmembrane protein 79
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,798,267...173,803,151
Ensembl chr 2:173,798,267...173,803,046
G
Tmod4
tropomodulin 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,695,709...182,700,540
Ensembl chr 2:182,695,709...182,700,540
G
Tnfaip8l2
TNF alpha induced protein 8 like 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,710,433...182,726,724
Ensembl chr 2:182,709,378...182,726,760
G
Tnp2
transition protein 2
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:4,879,812...4,880,540
Ensembl chr10:4,879,812...4,880,538
G
Tpm3
tropomyosin 3
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,517,198...175,545,014
Ensembl chr 2:175,517,226...175,545,013
G
Trim46
tripartite motif-containing 46
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,641,494...174,654,237
Ensembl chr 2:174,641,496...174,654,141
G
Tsacc
TSSK6 activating co-chaperone
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,755,841...173,765,564
Ensembl chr 2:173,753,786...173,765,404
G
Ttc24
tetratricopeptide repeat domain 24
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:173,525,204...173,533,182
Ensembl chr 2:173,524,600...173,533,107
G
Tuft1
tuftelin 1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,259,457...182,306,296
Ensembl chr 2:182,260,398...182,306,192
G
Tvp23a
trans-golgi network vesicle protein 23 homolog A
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:8402893 PMID:9099848 PMID:26271388 PMID:28492532
NCBI chr10:5,227,198...5,263,185
Ensembl chr10:5,227,220...5,263,180
G
Ubap2l
ubiquitin associated protein 2-like
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,438,703...175,494,085
Ensembl chr 2:175,438,703...175,493,998
G
Ube2q1
ubiquitin conjugating enzyme E2 Q1
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:175,198,793...175,209,152
Ensembl chr 2:175,198,873...175,207,942
G
Ubqln4
ubiquilin 4
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059
G
Usp7
ubiquitin specific peptidase 7
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr10:6,880,684...6,925,355
Ensembl chr10:6,828,795...6,925,355
G
Vps45
vacuolar protein sorting 45 homolog
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
G
Vps72
vacuolar protein sorting 72 homolog
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
G
Zbtb7b
zinc finger and BTB domain containing 7B
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:174,795,831...174,811,980
Ensembl chr 2:174,797,453...174,814,236
G
Zfp687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: MHC class II deficiency
ClinVar
PMID:28492532
NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
G
Adamts8
ADAM metallopeptidase with thrombospondin type 1 motif, 8
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
G
Amh
anti-Mullerian hormone
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282
G
Bcdin3d
BCDIN3 domain containing RNA methyltransferase
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:28492532
NCBI chr 7:130,605,540...130,610,134
Ensembl chr 7:130,605,541...130,610,115
G
Cdh11
cadherin 11
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272
G
Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 3:58,509,822...58,676,462
Ensembl chr 3:58,510,536...58,676,490
G
Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 1:191,996,726...192,114,593
Ensembl chr 1:191,996,730...192,114,359
G
Garin4
golgi associated RAB2 interactor family member 4
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr13:102,742,988...102,745,168
Ensembl chr13:102,742,988...102,745,168
G
Hecw2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868
NCBI chr 9:55,359,462...55,753,106
Ensembl chr 9:55,365,203...55,580,327
G
Hspb7
heat shock protein family B (small) member 7
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 5:153,727,782...153,731,268
Ensembl chr 5:153,727,588...153,731,266
G
Ints6l
integrator complex subunit 6 like
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr X:134,258,117...134,325,706
Ensembl chr X:134,258,125...134,309,617
G
Kbtbd7
kelch repeat and BTB domain containing 7
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr15:54,806,878...54,811,457
Ensembl chr15:54,806,873...54,811,687
G
Mrpl28
mitochondrial ribosomal protein L28
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581
G
Plcb2
phospholipase C, beta 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
G
Plxnd1
plexin D1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:25741868
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
G
Ptch2
patched 2
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:28492532 PMID:28915250
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
G
Sim1
SIM bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
PMID:2152513 PMID:23778139 PMID:25234154 PMID:25741868 PMID:28492532
NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212
G
Zfp787
zinc finger protein 787
ISO
ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum
ClinVar
NCBI chr 1:67,745,702...67,771,132
Ensembl chr 1:67,758,757...67,771,132
G
Comt
catechol-O-methyltransferase
treatment ameliorates
ISO
DNA:SNPs:cds: (rs4680,rs750603) c.158A>G (human) DNA:SNP: 158A>G (rs4680) (human) associated with maternal opioid abuse;DNA:SNP:intron (rs740603) (human)
RGD
PMID:27983768 PMID:23632726 PMID:26233486
RGD:401950496 , RGD:11097592 , RGD:11079504
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
treatment
ISO
DNA:SNP: :CYP2B6*6 (516G>T,785A>G) ((human)
RGD
PMID:28320034
RGD:401901176
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
mRNA:decreased expression:placenta
RGD
PMID:34352367
RGD:401938659
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
G
Oprk1
opioid receptor, kappa 1
severity
ISO
associated with maternal opioid abuse;DNA:SNP:intron (rs702764) (human)
RGD
PMID:26233486
RGD:11079504
NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
G
Oprm1
opioid receptor, mu 1
treatment ameliorates
ISO
DNA:SNP: 118A>G (rs1799971) (human) associated with maternal opioid abuse;DNA:SNP:intron (rs1799971) (human)
RGD
PMID:23632726 PMID:26233486
RGD:11097592 , RGD:11079504
NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
G
Pnoc
prepronociceptin
severity
ISO
associated with maternal opioid abuse;DNA:SNP:intron (rs732636|rs351776|rs2614095 ) (human)
RGD
PMID:26233486
RGD:11079504
NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867
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Itga2
integrin subunit alpha 2
ISO
ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia
ClinVar
PMID:23368983 PMID:25741868
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
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Itga2b
integrin subunit alpha 2b
ISO
ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN
ClinVar
PMID:2014236 PMID:25741868 PMID:28492532
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
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Itgb3
integrin subunit beta 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ca/Tu ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: Fetal and neonatal alloimmune thrombocytopenia | ClinVar Annotator: match by term: Mo ALLOANTIGEN POLYMORPHISM | ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
CTD ClinVar
PMID:1430225 PMID:2257303 PMID:7694683 PMID:8093349 PMID:8457479 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 PMID:25827233 PMID:28370162 PMID:28492532 More...
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Sptb
spectrin, beta, erythrocytic
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9005995
NCBI chr 6:95,310,342...95,437,221
Ensembl chr 6:95,310,326...95,437,118
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal diabetes mellitus
ClinVar
PMID:16613899 PMID:16885549 PMID:17389331 PMID:17446535 PMID:17668386 PMID:17919176 PMID:17957187 PMID:18025408 PMID:18025464 PMID:18436707 PMID:18767144 PMID:18981553 PMID:19095654 PMID:20301620 PMID:21109997 PMID:21989597 PMID:22451668 PMID:22749773 PMID:24622368 PMID:25741868 PMID:26208381 PMID:26467025 PMID:27538677 PMID:28492532 PMID:32027066 PMID:32792356 PMID:32893419 PMID:34566892 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Gck
glucokinase
ISO
ClinVar Annotator: match by term: Neonatal diabetes mellitus
ClinVar
PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33129248 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Neonatal diabetes mellitus
ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20938745 PMID:20948967 PMID:21723250 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28492532 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32916194 PMID:32994272 PMID:34593315 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Ins2
insulin 2
ISS ISO
ClinVar Annotator: match by term: Neonatal diabetes mellitus
MouseDO ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20938745 PMID:20948967 PMID:21723250 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28492532 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32916194 PMID:32994272 PMID:34593315 More...
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Neonatal diabetes mellitus
ClinVar
PMID:2270156 PMID:2462236 PMID:8897013 PMID:9831713 PMID:10049691 PMID:10338089 PMID:12213829 PMID:12524280 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15448107 PMID:15504982 PMID:15531505 PMID:15561897 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15838686 PMID:16123337 PMID:16205880 PMID:16268330 PMID:16416420 PMID:16609879 PMID:16636122 PMID:16670688 PMID:16731833 PMID:16731837 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17296510 PMID:17327377 PMID:17446535 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17673911 PMID:17901525 PMID:18414213 PMID:18436707 PMID:18662362 PMID:18767144 PMID:19065048 PMID:20220270 PMID:20301620 PMID:20466780 PMID:21352428 PMID:22471336 PMID:22701567 PMID:22749773 PMID:22768671 PMID:23667671 PMID:24622368 PMID:25308342 PMID:25555642 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26509005 PMID:26839896 PMID:26958039 PMID:27033559 PMID:27681997 PMID:28347637 PMID:28480665 PMID:28492532 PMID:28587604 PMID:28925365 PMID:32101525 PMID:32418263 PMID:32792356 PMID:32893419 PMID:33409956 PMID:33816067 PMID:33987715 PMID:34566892 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Neonatal diabetes mellitus
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Neonatal diabetes mellitus
ClinVar
PMID:25741868 PMID:27635400
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Glis3
GLIS family zinc finger 3
ISO ISS
OMIM:610199 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NDH SYNDROME | ClinVar Annotator: match by term: Neonatal diabetes mellitus with congenital hypothyroidism
OMIM MouseDO CTD ClinVar
PMID:12966531 PMID:16715098 PMID:18263616 PMID:18414213 PMID:23856252 PMID:24033266 PMID:25741868 PMID:26259131 PMID:27899417 PMID:28253873 PMID:28444304 PMID:28492532 PMID:29146476 PMID:29992946 PMID:31415576 PMID:32425884 PMID:32693112 PMID:35394098 More...
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
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G6pd
glucose-6-phosphate dehydrogenase
ISO
protein:decreased activity:blood
RGD
PMID:25092943
RGD:10449110
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Hmox1
heme oxygenase 1
IMP
RGD
PMID:19646271
RGD:4145302
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28167773
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Ncor1
nuclear receptor co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28167773
NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
DNA:polymorphism: :211G>A(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28167773 PMID:21592495
RGD:10769330
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal hypoglycemia
ClinVar
PMID:10857971 PMID:16885549 PMID:17466004 PMID:21814221 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Hypoglycemia, neonatal, simulating foetopathia diabetica
ClinVar
PMID:15166380 PMID:16722806 PMID:21518566 PMID:25741868 PMID:28492532
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Neonatal hypoglycemia
ClinVar
PMID:16609879 PMID:16885549 PMID:17446535 PMID:17466004 PMID:17635943 PMID:18073297 PMID:18414213 PMID:20301620 PMID:21340152 PMID:23226037 PMID:25741868 PMID:26388896 PMID:27223594 PMID:28492532 PMID:30286572 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Adam17
ADAM metallopeptidase domain 17
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1
OMIM CTD ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22010916 PMID:25640679 PMID:25741868 PMID:25804906 PMID:26683521 PMID:28492532 PMID:29560122 PMID:31060243 PMID:32447396 More...
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Iah1
isoamyl acetate hydrolyzing esterase 1
ISO
ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22010916 PMID:25741868 PMID:25804906 PMID:26683521 PMID:28492532 PMID:29560122 PMID:31060243 More...
NCBI chr 6:40,865,530...40,872,747
Ensembl chr 6:40,865,502...40,872,978
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 2
CTD OMIM ClinVar
PMID:11423618 PMID:15118073 PMID:15118125 PMID:15272417 PMID:15329413 PMID:15728811 PMID:15737014 PMID:15901872 PMID:16258541 PMID:16912157 PMID:17020982 PMID:17085664 PMID:17332364 PMID:17510392 PMID:17726540 PMID:18093943 PMID:18227510 PMID:18550579 PMID:18596266 PMID:18981003 PMID:18992959 PMID:19096324 PMID:19381876 PMID:19589612 PMID:20033049 PMID:20068085 PMID:20129249 PMID:21194487 PMID:21233402 PMID:21248300 PMID:21252721 PMID:21430269 PMID:21531810 PMID:21921847 PMID:22215752 PMID:22452896 PMID:22588155 PMID:22992668 PMID:23102728 PMID:23540867 PMID:23816963 PMID:24033266 PMID:24065731 PMID:24202392 PMID:24453288 PMID:24478319 PMID:24623981 PMID:24636847 PMID:24658966 PMID:24691054 PMID:24728327 PMID:24729716 PMID:24736066 PMID:24736080 PMID:24893891 PMID:25157968 PMID:25668228 PMID:25741868 PMID:25923549 PMID:25923550 PMID:26436111 PMID:26515464 PMID:26700910 PMID:26720284 PMID:28492532 PMID:28947568 PMID:30610926 PMID:32602142 PMID:33858029 More...
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G6pd
glucose-6-phosphate dehydrogenase
ISO
DNA:point mutation: :563C>T (human)
RGD
PMID:24460025
RGD:10449116
NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22371261
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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Cps1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD OMIM ClinVar
PMID:8486760 PMID:9536098 PMID:9686343 PMID:9711878 PMID:11388595 PMID:11407344 PMID:11536261 PMID:12655559 PMID:12955727 PMID:14718356 PMID:15050969 PMID:15164414 PMID:15465784 PMID:15617192 PMID:15876373 PMID:16199547 PMID:16708072 PMID:16737834 PMID:17310273 PMID:17576681 PMID:19167850 PMID:19684305 PMID:19793055 PMID:20154341 PMID:20578160 PMID:20800523 PMID:21068339 PMID:21120950 PMID:21767969 PMID:22173106 PMID:22575620 PMID:23649895 PMID:24813853 PMID:25741868 PMID:26059772 PMID:26440671 PMID:27150549 PMID:27290639 PMID:27436290 PMID:28444906 PMID:28492532 PMID:28526534 PMID:28658158 PMID:30285816 PMID:31392117 PMID:31435610 PMID:31507628 PMID:31749211 PMID:32154057 PMID:32537019 PMID:32718099 PMID:32934962 PMID:33190319 PMID:33240318 PMID:33309754 PMID:33489762 PMID:33851512 PMID:33924653 PMID:34014557 PMID:34298581 PMID:34440436 PMID:34970092 More...
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Il27
interleukin 27
ISO
protein:increased expression:blood serum (mouse) protien:increased expression:blood serum (human)
RGD
PMID:31818960 PMID:22766719
RGD:126790524 , RGD:126790543
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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Pla2g2a
phospholipase A2 group IIA
susceptibility
ISO
DNA:SNP:enhancer: (rs1891320) (human)
RGD
PMID:20463618
RGD:6482720
NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014
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Gba1
glucosylceramidase beta 1
severity
ISO
protein:decreased expression:epidermis stratum corneum
RGD
PMID:16601670
RGD:5508433
NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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Spink5
serine peptidase inhibitor, Kazal type 5
ISO ISS
ClinVar Annotator: match by term: COMEL-NETHERTON SYNDROME | ClinVar Annotator: match by term: Ichthyosis linearis circumflexa | ClinVar Annotator: match by term: Netherton disease | ClinVar Annotator: match by term: Netherton syndrome OMIM:256500 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:10835624 PMID:11511292 PMID:11544479 PMID:11841556 PMID:12752122 PMID:12923596 PMID:15304086 PMID:15656819 PMID:16199547 PMID:16601670 PMID:16628198 PMID:17415575 PMID:17576681 PMID:18577046 PMID:19683336 PMID:19840201 PMID:20107740 PMID:20657595 PMID:21255986 PMID:21564178 PMID:22089833 PMID:22377713 PMID:23331056 PMID:24015757 PMID:24033266 PMID:25640679 PMID:25665175 PMID:25710899 PMID:25741868 PMID:25819062 PMID:26031502 PMID:26193622 PMID:26229701 PMID:26865388 PMID:27905021 PMID:27988933 PMID:28289593 PMID:28492532 PMID:28832562 PMID:28832989 PMID:28943498 PMID:29444371 PMID:29926005 PMID:30293248 PMID:30477583 PMID:31953843 PMID:32441320 PMID:32459284 PMID:32573669 PMID:32709676 PMID:33452875 PMID:34604321 PMID:36169939 More...
NCBI chr18:36,264,452...36,333,143
Ensembl chr18:36,264,452...36,332,185
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St14
ST14 transmembrane serine protease matriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20657595
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Phgdh
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
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Psat1
phosphoserine aminotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
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Adam17
ADAM metallopeptidase domain 17
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Cpsf3
cleavage and polyadenylation specific factor 3
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
OMIM ClinVar
PMID:25741868
NCBI chr 6:40,836,121...40,864,129
Ensembl chr 6:40,836,097...40,864,128
G
Iah1
isoamyl acetate hydrolyzing esterase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,865,530...40,872,747
Ensembl chr 6:40,865,502...40,872,978
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Ywhaq
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures
ClinVar
NCBI chr 6:40,935,714...40,966,240
Ensembl chr 6:40,935,949...40,966,273
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Pnpla2
patatin-like phospholipase domain containing 2
ISO
ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532 PMID:35460704
NCBI chr 1:196,552,723...196,557,805
Ensembl chr 1:196,552,723...196,557,805
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 PMID:18413255 PMID:19206169 PMID:20186801 PMID:24033266 PMID:25463315 PMID:25741868 PMID:28492532 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cat
catalase
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:22574884
RGD:8655661
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Des
desmin
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32403337 More...
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868 PMID:28492532 PMID:29068549
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Epas1
endothelial PAS domain protein 1
ISS
OMIM:267450
MouseDO
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Gjb2
gap junction protein, beta 2
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:17666888 PMID:25741868 PMID:30755392
NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:blood cells
RGD
PMID:18301921
RGD:4145353
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1
intercellular adhesion molecule 1
ISO IEP
protein:increased expression:lung (mouse) associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD
PMID:20888423 PMID:19837405
RGD:4145440 , RGD:4145493
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Mbl2
mannose binding lectin 2
disease_progression
ISO
RGD
PMID:25879044
RGD:12910849
NCBI chr 1:228,016,439...228,024,736
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Megf10
multiple EGF-like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
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Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:18097062
RGD:4891007
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
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Ndst1
N-deacetylase and N-sulfotransferase 1
ISS
OMIM:267450
MouseDO
NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
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Nprl2
NPR2-like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Neonatal respiratory distress
ClinVar
PMID:25741868
NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
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Npsr1
neuropeptide S receptor 1
ISO
RGD
PMID:16938805
RGD:4891932
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
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Sftpa1
surfactant protein A1
susceptibility
ISO IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human) protein:increased expression:lung
RGD
PMID:11063734 PMID:11504697
RGD:4143433 , RGD:4143428
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sftpb
surfactant protein B
susceptibility
ISO IEP
DNA:polymorphism:intron (human) DNA:polymorphism: :p.T131I (human) mRNA, protein:decreased expression:lung
RGD
PMID:12490037 PMID:7832777 PMID:11063734 PMID:11504697 PMID:12424586 PMID:18353230 More...
RGD:4143416 , RGD:4143455 , RGD:4143433 , RGD:4143428 , RGD:4143418 , RGD:4143376
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Sftpc
surfactant protein C
IEP ISO
mRNA, protein:decreased expression:lung ClinVar Annotator: match by term: Neonatal respiratory distress protein:altered processing:amniotic fluid, lung
ClinVar RGD
PMID:25741868 PMID:11504697 PMID:7537464
RGD:4143428 , RGD:4144127
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
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Sftpd
surfactant protein D
susceptibility
ISO IEP
DNA:SNP: :p.A160T (human) protein:increased expression:lung
RGD
PMID:17524024 PMID:11504697
RGD:4143507 , RGD:4143428
NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22574884
RGD:8655661
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Tnnt2
troponin T2, cardiac type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10789933
NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
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Vegfa
vascular endothelial growth factor A
ISS
OMIM:267450
MouseDO
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31533111 PMID:31825158 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2682973 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18442948 PMID:18822103 PMID:19011808 PMID:19178939 PMID:19830075 PMID:20109747 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25849362 PMID:25976673 PMID:26457731 PMID:26596586 PMID:27301863 PMID:28083621 PMID:28109013 PMID:28492532 PMID:28769923 PMID:28783691 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31503426 PMID:32000930 PMID:32447396 PMID:32655540 PMID:33193364 PMID:33365035 PMID:33628209 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO ISS
ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia OMIM:603554 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:10777560 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 PMID:17572155 PMID:18025461 PMID:18682256 PMID:19178939 PMID:19333736 PMID:20234091 PMID:23243423 PMID:23994475 PMID:25741868 PMID:26457731 PMID:28492532 PMID:28769923 PMID:29772310 PMID:30307608 PMID:30778343 PMID:9630231 More...
RGD:1599403
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Adipoq
adiponectin, C1Q and collagen domain containing
treatment
ISO
RGD
PMID:19342600
RGD:7394795
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Amigo2
adhesion molecule with Ig like domain 2
treatment
ISO
RGD
PMID:26553931
RGD:14392781
NCBI chr 7:128,391,493...128,394,589
Ensembl chr 7:128,390,412...128,394,695
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Bcl2
BCL2, apoptosis regulator
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Casp3
caspase 3
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Ccl2
C-C motif chemokine ligand 2
treatment
ISO IDA
mRNA:increased expression:retina (mouse)
RGD
PMID:16710171 PMID:19038868
RGD:8548878 , RGD:11526145
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Csnk2a1
casein kinase 2 alpha 1
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
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Csnk2a2
casein kinase 2 alpha 2
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
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Csnk2b
casein kinase 2 beta
ISO
RGD
PMID:16651637
RGD:11565123
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Dll4
delta like canonical Notch ligand 4
treatment
IEP
RGD
PMID:26670826
RGD:155663663
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Efnb2
ephrin B2
IEP
mRNA:increased expression:retina
RGD
PMID:26670826
RGD:155663663
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
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Ephb4
EPH receptor B4
treatment
IEP
RGD
PMID:26670826
RGD:155663663
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Fas
Fas cell surface death receptor
ISO
mRNA:increased expression:retina
RGD
PMID:17102953
RGD:12903974
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
RGD
PMID:17102953
RGD:12903974
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Ghrl
ghrelin and obestatin prepropeptide
IEP
RGD
PMID:21642627
RGD:12904963
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Ghsr
growth hormone secretagogue receptor
treatment
IMP
RGD
PMID:21642627
RGD:12904963
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment ameliorates
ISO
mRNA:increased expression:retina (mouse)
RGD
PMID:18087198 PMID:35445044 PMID:20220049
RGD:8695923 , RGD:329812014 , RGD:9068455
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hmgb1
high mobility group box 1
treatment
ISO
RGD
PMID:24371837
RGD:10402057
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Igf1
insulin-like growth factor 1
IEP
protein:decreased expression:serum (rat)
RGD
PMID:18344903
RGD:12910457
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il1b
interleukin 1 beta
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Kdr
kinase insert domain receptor
treatment
IEP IMP
RGD
PMID:17349140 PMID:15951738
RGD:8549715 , RGD:1581593
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:19433784
RGD:10412674
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mir126a
microRNA 126a
ameliorates
ISO
RGD
PMID:21586283
RGD:401850785
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mir145
microRNA 145
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mobp
myelin-associated oligodendrocyte basic protein
IEP
mRNA:decreased expression:retina:
RGD
PMID:21350694
RGD:10401135
NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
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Ndp
norrin cystine knot growth factor NDP
treatment
ISO
RGD
PMID:20053900
RGD:8694208
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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Ntn1
netrin 1
treatment
IEP
RGD
PMID:26670826
RGD:155663663
NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
protein:decreased expression:retina (mouse)
RGD
PMID:18806296
RGD:2301844
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ptafr
platelet-activating factor receptor
treatment
IMP
RGD
PMID:12356842
RGD:10041062
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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Ptger3
prostaglandin E receptor 3
IEP
protein:increased expression:retina (rat)
RGD
PMID:12821538
RGD:9850261
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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Serpine1
serpin family E member 1
treatment severity
ISO IEP
mRNA, protein:increased expression:retina (mouse)
RGD
PMID:19443721 PMID:11133880 PMID:19443721
RGD:8547749 , RGD:13208592 , RGD:8547749
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
treatment susceptibility
ISO IEP
human gene in a mouse model mRNA, protein:decreased expression:retina (rat)
RGD
PMID:21281801 PMID:11916948
RGD:8554878 , RGD:8655544
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sod1
superoxide dismutase 1
ISO
RGD
PMID:16741961
RGD:8655606
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:16303927
RGD:8694296
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tnf
tumor necrosis factor
ameliorates
ISO
RGD
PMID:15681845 PMID:35445044 PMID:19342600
RGD:7394799 , RGD:329812014 , RGD:7394795
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tug1
taurine up-regulated 1
ameliorates
ISO
RGD
PMID:35445044
RGD:329812014
NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927
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Vegfa
vascular endothelial growth factor A
ameliorates
IEP ISO
mRNA:increased expression:retina:
RGD
PMID:15303088 PMID:35445044
RGD:7483624 , RGD:329812014
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Congenital absence of insulin-producing beta cells with diabetes mellitus
ClinVar
PMID:18591390 PMID:25741868 PMID:28492532
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Mbp
myelin basic protein
IEP
protein:decreased expression:brain:
RGD
PMID:23614640
RGD:7327203
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mcoln1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:11030752 PMID:11317355 PMID:16199547 PMID:28492532 PMID:31623504
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Parp1
poly (ADP-ribose) polymerase 1
ISO
RGD
PMID:21596035
RGD:5683904
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Periventricular leukomalacia
ClinVar
PMID:25741868
NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555
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Tnf
tumor necrosis factor
IDA ISO
RGD
PMID:15765524 PMID:8652010
RGD:1580604 , RGD:12904655
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
ClinVar
PMID:8650576 PMID:8923011 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9867219 PMID:10204114 PMID:10338089 PMID:10426386 PMID:10685980 PMID:10857971 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12166651 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14692646 PMID:14764815 PMID:15111507 PMID:15562009 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15842514 PMID:15855351 PMID:16186397 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16455067 PMID:16613899 PMID:16885549 PMID:17257281 PMID:17378627 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18025464 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18981553 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:20301620 PMID:20424228 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21378087 PMID:21422196 PMID:21544516 PMID:21674179 PMID:21814221 PMID:21989597 PMID:21992908 PMID:22082043 PMID:22151254 PMID:22163043 PMID:22209866 PMID:22210575 PMID:22264780 PMID:22533711 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22815030 PMID:22902787 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:24033266 PMID:24080777 PMID:24332968 PMID:24401662 PMID:24645945 PMID:24768178 PMID:24814349 PMID:24959012 PMID:25306193 PMID:25518065 PMID:25555642 PMID:25741868 PMID:25765446 PMID:25871929 PMID:25955821 PMID:26180531 PMID:26379717 PMID:26448950 PMID:26467025 PMID:26740944 PMID:26758964 PMID:27313609 PMID:27538677 PMID:27677908 PMID:27681997 PMID:27810688 PMID:27908292 PMID:27913849 PMID:28346775 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29127764 PMID:29207974 PMID:29216354 PMID:29644095 PMID:29751826 PMID:29893194 PMID:30098243 PMID:30191644 PMID:30297969 PMID:30352420 PMID:30447144 PMID:30515958 PMID:30977832 PMID:31595705 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32333556 PMID:32640185 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:32935446 PMID:33046911 PMID:33185579 PMID:33400071 PMID:33410562 PMID:33565752 PMID:33728157 PMID:34171966 PMID:34194474 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34631896 PMID:35402560 PMID:36208030 PMID:36407475 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Gck
glucokinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
CTD ClinVar
PMID:7555485 PMID:7958490 PMID:8068341 PMID:8132752 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8446612 PMID:8454109 PMID:9049484 PMID:9536098 PMID:10426385 PMID:10447526 PMID:10525657 PMID:10754480 PMID:11315850 PMID:11315851 PMID:11372010 PMID:11508276 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:14578306 PMID:15102714 PMID:15305805 PMID:15644838 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16602010 PMID:16731834 PMID:16963153 PMID:16965331 PMID:17079173 PMID:17186219 PMID:17573900 PMID:17576681 PMID:18056790 PMID:18271687 PMID:18382660 PMID:18397317 PMID:18399931 PMID:18414213 PMID:19790256 PMID:19884385 PMID:20132997 PMID:20301620 PMID:20337973 PMID:21395678 PMID:21437567 PMID:21604084 PMID:21720051 PMID:21831042 PMID:22291974 PMID:22335469 PMID:22389783 PMID:22493702 PMID:22611063 PMID:22761713 PMID:22808921 PMID:23624530 PMID:23771172 PMID:23778137 PMID:24033266 PMID:24097065 PMID:24518839 PMID:24578721 PMID:24728127 PMID:25015100 PMID:25082184 PMID:25306193 PMID:25414397 PMID:25494859 PMID:25555642 PMID:25741868 PMID:25850297 PMID:25935773 PMID:26123671 PMID:26467025 PMID:27080136 PMID:27188453 PMID:27269892 PMID:27634015 PMID:27913849 PMID:28247534 PMID:28323911 PMID:28331372 PMID:28492532 PMID:28726111 PMID:29056535 PMID:29510678 PMID:30191644 PMID:30257192 PMID:31197960 PMID:31216263 PMID:31595705 PMID:31957151 PMID:31968686 PMID:32041611 PMID:32086287 PMID:32375122 PMID:33072637 PMID:33129248 PMID:33294763 PMID:33565752 PMID:34406393 PMID:34496959 PMID:34746319 PMID:34789499 PMID:35737141 PMID:36178555 PMID:36257325 PMID:36504295 PMID:37008541 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20133622 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21566073 PMID:21592955 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:28492532 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:34584998 PMID:34593315 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
G
Ins2
insulin 2
ISS ISO
OMIM:606176 ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
MouseDO ClinVar
PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20133622 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21566073 PMID:21592955 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24622368 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:28492532 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32252216 PMID:32433667 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:33852861 PMID:34584998 PMID:34593315 More...
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO ISS
DNA:missense mutations: :multiple ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus OMIM:606176 DNA:missense mutations: :p.V59M, p.C166F, p.R201H (human)
ClinVar MouseDO RGD
PMID:1422196 PMID:9831713 PMID:9867219 PMID:10049691 PMID:10559219 PMID:11318841 PMID:11395395 PMID:11585851 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12213829 PMID:12364426 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14692646 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15448107 PMID:15504982 PMID:15531505 PMID:15561897 PMID:15562009 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15784703 PMID:15797964 PMID:15807877 PMID:15838686 PMID:15855351 PMID:15886397 PMID:16123337 PMID:16205880 PMID:16268330 PMID:16357843 PMID:16403845 PMID:16416420 PMID:16455067 PMID:16609879 PMID:16636122 PMID:16670688 PMID:16731833 PMID:16731837 PMID:16885549 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17114887 PMID:17257281 PMID:17296510 PMID:17316607 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17652641 PMID:17673911 PMID:17728498 PMID:17823772 PMID:17901525 PMID:17919178 PMID:17956278 PMID:18073297 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18436707 PMID:18556340 PMID:18662362 PMID:18758683 PMID:18767144 PMID:19065048 PMID:19139106 PMID:19214942 PMID:19233137 PMID:19357197 PMID:19372376 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20220270 PMID:20301620 PMID:20424228 PMID:20466780 PMID:20642364 PMID:20685672 PMID:20686794 PMID:21056492 PMID:21115269 PMID:21119644 PMID:21340152 PMID:21352428 PMID:21422196 PMID:21544516 PMID:21682153 PMID:21765448 PMID:21812132 PMID:22005014 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22648966 PMID:22701567 PMID:22704848 PMID:22749773 PMID:22768671 PMID:22815030 PMID:22831748 PMID:22958899 PMID:23226037 PMID:23226049 PMID:23275527 PMID:23320570 PMID:23345197 PMID:23652837 PMID:23950723 PMID:24018988 PMID:24068186 PMID:24150202 PMID:24401662 PMID:24421282 PMID:24622368 PMID:24686051 PMID:24698822 PMID:25201519 PMID:25247988 PMID:25308342 PMID:25555642 PMID:25637631 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26388896 PMID:26448950 PMID:26467025 PMID:26740944 PMID:26839896 PMID:26958039 PMID:27118464 PMID:27173951 PMID:27181376 PMID:27681997 PMID:27691052 PMID:27908292 PMID:28083968 PMID:28123437 PMID:28262438 PMID:28270372 PMID:28352326 PMID:28442472 PMID:28480665 PMID:28492532 PMID:29361385 PMID:29893194 PMID:30286572 PMID:30377186 PMID:30663027 PMID:31218401 PMID:31291970 PMID:31464105 PMID:32027066 PMID:32279225 PMID:32418263 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33046911 PMID:33324081 PMID:33409956 PMID:33762279 PMID:33816067 PMID:33853507 PMID:33987715 PMID:34566892 PMID:15115830 PMID:16670688 More...
RGD:11067932 , RGD:12743642
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Pdx1
pancreatic and duodenal homeobox 1
ISO
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
ClinVar
PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 More...
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
G
Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Permanent diabetes mellitus of infancy | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus
ClinVar
PMID:18591390 PMID:25741868 PMID:28492532
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
G
Gck
glucokinase
ISO
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1
OMIM ClinVar
PMID:1502186 PMID:2555564 PMID:7553875 PMID:8325892 PMID:8446612 PMID:8495817 PMID:9049484 PMID:9867845 PMID:10525657 PMID:11372010 PMID:11553210 PMID:14578306 PMID:17573900 PMID:17937063 PMID:20301620 PMID:21569204 PMID:21720051 PMID:22060211 PMID:22335469 PMID:23771925 PMID:24323243 PMID:24735133 PMID:25015100 PMID:25741868 PMID:26467025 PMID:27269892 PMID:28492532 PMID:29056535 PMID:29510678 PMID:30257192 PMID:31197960 PMID:31638168 PMID:31957151 PMID:32375122 PMID:32533152 PMID:32792356 PMID:33129248 PMID:33852230 PMID:34686905 PMID:34746319 PMID:36257325 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1
ClinVar
PMID:15580558 PMID:15718250 PMID:25741868 PMID:26448950
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2
ClinVar OMIM
PMID:9831713 PMID:10049691 PMID:11872696 PMID:12213829 PMID:12475776 PMID:12524280 PMID:14871556 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15448107 PMID:15531505 PMID:15561897 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15807877 PMID:15838686 PMID:15855351 PMID:16123337 PMID:16205880 PMID:16268330 PMID:16416420 PMID:16609879 PMID:16636122 PMID:16670688 PMID:16731833 PMID:16731837 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17257281 PMID:17296510 PMID:17327377 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17652641 PMID:17673911 PMID:17728498 PMID:17901525 PMID:18073297 PMID:18414213 PMID:18436707 PMID:18559200 PMID:18662362 PMID:18767144 PMID:19065048 PMID:19139106 PMID:20022885 PMID:20220270 PMID:20301620 PMID:20466780 PMID:21340152 PMID:21352428 PMID:21765448 PMID:22512215 PMID:22619292 PMID:22749773 PMID:22768671 PMID:22958899 PMID:23275527 PMID:23462667 PMID:24421282 PMID:24622368 PMID:24686051 PMID:25247988 PMID:25308342 PMID:25555642 PMID:25741868 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26839896 PMID:26958039 PMID:27681997 PMID:27908292 PMID:28350539 PMID:28352326 PMID:28480665 PMID:28492532 PMID:28766502 PMID:30286572 PMID:32027066 PMID:32418263 PMID:32792356 PMID:32893419 PMID:33324081 PMID:33409956 PMID:33816067 PMID:33852230 PMID:33853507 PMID:33987715 PMID:34566892 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3
OMIM ClinVar
PMID:7716548 PMID:8923011 PMID:9536098 PMID:9618169 PMID:9648840 PMID:10204114 PMID:10426386 PMID:10447255 PMID:10487673 PMID:10685980 PMID:10857971 PMID:10923633 PMID:11272143 PMID:11697420 PMID:11867634 PMID:11999683 PMID:12941782 PMID:14692646 PMID:14715863 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:16357843 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16613899 PMID:16860127 PMID:16882742 PMID:16885549 PMID:17378627 PMID:17466004 PMID:17539904 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:18025408 PMID:18339976 PMID:18414213 PMID:18436707 PMID:18493152 PMID:18596924 PMID:18767144 PMID:18796520 PMID:18981553 PMID:19475716 PMID:19766903 PMID:20301620 PMID:20672374 PMID:20685672 PMID:20799350 PMID:20849526 PMID:21142918 PMID:21378087 PMID:21716120 PMID:21814221 PMID:21851374 PMID:21989597 PMID:22151254 PMID:22210575 PMID:22533711 PMID:22802590 PMID:23067144 PMID:23275527 PMID:23345197 PMID:24401662 PMID:24434300 PMID:24686051 PMID:25008049 PMID:25117148 PMID:25306193 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26180531 PMID:26431509 PMID:26467025 PMID:26594346 PMID:27175728 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27754802 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28757749 PMID:29751826 PMID:30114684 PMID:30297969 PMID:30447144 PMID:30515958 PMID:31464105 PMID:31604004 PMID:32027066 PMID:32041611 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32893419 PMID:33400071 PMID:33410562 PMID:34171966 PMID:34194474 PMID:34426522 PMID:34462253 PMID:34777243 PMID:36339418 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3
ClinVar
PMID:16885549 PMID:17466004 PMID:25741868 PMID:28492532
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4
ClinVar
PMID:3511099 PMID:3537011 PMID:6339950 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20226046 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24622368 PMID:25423173 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28478482 PMID:28492532 PMID:29454299 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32433667 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:33953728 PMID:34584998 PMID:34593315 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
G
Ins2
insulin 2
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4
OMIM ClinVar
PMID:3511099 PMID:3537011 PMID:6339950 PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 PMID:18414213 PMID:18451997 PMID:18840770 PMID:18981553 PMID:19801494 PMID:19900242 PMID:19952343 PMID:20034470 PMID:20133622 PMID:20226046 PMID:20301620 PMID:20308425 PMID:20659334 PMID:20724178 PMID:20938745 PMID:20948967 PMID:21592955 PMID:21723250 PMID:22235272 PMID:22831748 PMID:22957706 PMID:23416061 PMID:23444373 PMID:24622368 PMID:25423173 PMID:25542748 PMID:25721872 PMID:25741868 PMID:25765664 PMID:26101329 PMID:26208381 PMID:26239141 PMID:26467025 PMID:26530398 PMID:27634015 PMID:27635400 PMID:28478482 PMID:28492532 PMID:29454299 PMID:30191644 PMID:30414308 PMID:31264968 PMID:31365591 PMID:31605659 PMID:32041611 PMID:32252216 PMID:32433667 PMID:32792356 PMID:32894308 PMID:32916194 PMID:32994272 PMID:33852861 PMID:33953728 PMID:34584998 PMID:34593315 More...
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 4
ClinVar
PMID:25741868 PMID:27635400 PMID:33953728
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
G
Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 More...
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
G
6430548M08Rikl
RIKEN cDNA 6430548M08 gene like
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,168,651...48,216,571
Ensembl chr19:48,198,209...48,216,575
G
Adad2
adenosine deaminase domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,665,288...47,669,433
Ensembl chr19:47,665,309...47,669,436
G
Atp2c2
ATPase secretory pathway Ca2+ transporting 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,754,120...47,811,369
Ensembl chr19:47,754,120...47,811,368
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C19h16orf74
similar to human chromosome 16 open reading frame 74
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,660,288...48,686,287
Ensembl chr19:48,660,288...48,686,349
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C19h16orf95
similar to human chromosome 16 open reading frame 95
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
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Cibar2
CBY1 interacting BAR domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,217,617...48,229,418
Ensembl chr19:48,215,486...48,229,404
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Cotl1
coactosin-like F-actin binding protein 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,871,689...47,906,010
Ensembl chr19:47,871,694...47,911,689
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Cox4i1
cytochrome c oxidase subunit 4i1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921
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Cps1
carbamoyl-phosphate synthase 1
ISO
CACD, OMIM:265380, DNA:polymorphism:T1405N CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11407344 PMID:11407344
RGD:1600716
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Crispld2
cysteine-rich secretory protein LCCL domain containing 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,053,153...48,111,485
Ensembl chr19:48,053,287...48,110,465
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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Emc8
ER membrane protein complex subunit 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,708,304...48,721,626
Ensembl chr19:48,582,574...48,721,543
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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Fendrr
FOXF1 adjacent non-coding developmental regulatory RNA
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
PMID:25741868
NCBI chr19:49,127,225...49,152,780
Ensembl chr19:49,121,214...49,153,240
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Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxf1
forkhead box F1
ISO ISS
OMIM:265380 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
OMIM MouseDO CTD ClinVar
PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 PMID:27071622 PMID:27439648 PMID:28469849 PMID:28492532 PMID:30380203 More...
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Foxl1
forkhead box L1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,197,269...49,200,682
Ensembl chr19:49,197,400...49,198,425
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Gins2
GINS complex subunit 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
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Gse1
Gse1 coiled-coil protein
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,274,164...48,629,456
Ensembl chr19:48,274,127...48,629,458
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Hsdl1
hydroxysteroid dehydrogenase like 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846
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Irf8
interferon regulatory factor 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Itgam
integrin subunit alpha M
ISO
DNA:missense mutation:CDS:p.E1071D (human)
RGD
PMID:32054482
RGD:329853760
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Kcng4
potassium voltage-gated channel modifier subfamily G member 4
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,677,307...47,689,410
Ensembl chr19:47,677,327...47,689,268
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Klhl36
kelch-like family member 36
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,921,590...47,942,627
Ensembl chr19:47,921,590...47,942,620
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Mbtps1
membrane-bound transcription factor peptidase, site 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
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Meak7
MTOR associated protein, eak-7 homolog
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,813,899...47,836,830
Ensembl chr19:47,811,416...47,841,278
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Mlycd
malonyl-CoA decarboxylase
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mthfsd
methenyltetrahydrofolate synthetase domain containing
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,164,266...49,178,233
Ensembl chr19:49,167,183...49,178,232
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Necab2
N-terminal EF-hand calcium binding protein 2
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684
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Nos3
nitric oxide synthase 3
ISS
OMIM:265380
MouseDO
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Osgin1
oxidative stress induced growth inhibitor 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
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Pten
phosphatase and tensin homolog
ISS
OMIM:265380
MouseDO
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Stra6
signaling receptor and transporter of retinol STRA6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17273977
NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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Taf1c
TATA-box binding protein associated factor, RNA polymerase 1 subunit C
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
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Usp10
ubiquitin specific peptidase 10
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,972,858...48,014,900
Ensembl chr19:47,972,611...48,014,897
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Wfdc1
WAP four-disulfide core domain 1
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:47,720,191...47,739,121
Ensembl chr19:47,720,423...47,739,108
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Zcchc14
zinc finger CCHC-type containing 14
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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Zdhhc7
zinc finger DHHC-type palmitoyltransferase 7
ISO
ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
ClinVar
NCBI chr19:48,139,309...48,156,673
Ensembl chr19:48,139,527...48,156,673
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7585650 PMID:7849702 PMID:7920640 PMID:8571952 PMID:9195225 PMID:9238033 PMID:9536098 PMID:9651581 PMID:9758621 PMID:11242112 PMID:11335038 PMID:11443545 PMID:11585917 PMID:11709541 PMID:11734544 PMID:12116233 PMID:12820975 PMID:15982307 PMID:16135823 PMID:16199547 PMID:17576681 PMID:18470933 PMID:19085937 PMID:19434073 PMID:19470925 PMID:19931493 PMID:19934020 PMID:20633800 PMID:20944642 PMID:22234153 PMID:22826098 PMID:23039039 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24514865 PMID:24728327 PMID:25002996 PMID:25431422 PMID:25620205 PMID:25716912 PMID:25741868 PMID:26344056 PMID:26577220 PMID:26884178 PMID:27085493 PMID:27396511 PMID:27504877 PMID:27607234 PMID:28492532 PMID:29141312 PMID:29607586 PMID:29625052 PMID:29754767 PMID:30136158 PMID:31282071 PMID:31803976 PMID:31980526 PMID:34308104 PMID:35477182 PMID:35699229 PMID:36033485 PMID:36259739 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Gtf2h5
general transcription factor IIH subunit 5
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
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Mplkip
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Trichothiodystrophy 1, photosensitive
ClinVar
NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
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Itgb3
integrin subunit beta 3
ISO
ClinVar Annotator: match by term: PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM
ClinVar OMIM
PMID:1430225 PMID:9787162 PMID:14516468 PMID:21658138 PMID:25741868 PMID:28492532 More...
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14657821
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Radial and patellar hypoplasia | ClinVar Annotator: match by term: Rapadilino syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15221963 PMID:15897384 PMID:15964893 PMID:16199547 PMID:17250975 PMID:18504617 PMID:18716613 PMID:19291770 PMID:20113479 PMID:22885111 PMID:23238538 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25741868 PMID:25966250 PMID:26491355 PMID:27247962 PMID:28486640 PMID:28492532 PMID:29367366 PMID:29478780 PMID:29625052 PMID:31829210 PMID:32482547 PMID:33046774 PMID:33077847 PMID:33294214 More...
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Recombinase activating gene 1 deficiency
ClinVar
PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11313270 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17572155 PMID:18442948 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25104208 PMID:25516070 PMID:25739914 PMID:25741868 PMID:25849362 PMID:25976673 PMID:26186701 PMID:26457731 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28083621 PMID:28492532 PMID:28769923 PMID:29772310 PMID:30307608 PMID:31980526 PMID:32445296 PMID:33193364 PMID:33954879 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO
ClinVar Annotator: match by term: Recombinase activating gene 2 deficiency
ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:12200379 PMID:15025726 PMID:16960852 PMID:17476358 PMID:17572155 PMID:18025461 PMID:18033247 PMID:18463379 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:19912631 PMID:20234091 PMID:20603253 PMID:21131235 PMID:21624848 PMID:21625022 PMID:21664875 PMID:22295088 PMID:23243423 PMID:24144642 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25109802 PMID:25333069 PMID:25707801 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26692406 PMID:26915675 PMID:26996199 PMID:27730413 PMID:28492532 PMID:28600779 PMID:28747913 PMID:28769923 PMID:29772310 PMID:30305145 PMID:30307608 PMID:30778343 PMID:31031743 PMID:31058115 PMID:31334206 PMID:31388879 PMID:32581362 PMID:32655540 PMID:33628209 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Ak2
adenylate kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Reticular dysgenesis DNA:missense,nonsense mutations:cds:
OMIM CTD ClinVar RGD
PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:19414857 PMID:23014587 PMID:23763981 PMID:24033266 PMID:25741868 PMID:26229552 PMID:26997321 PMID:28331055 PMID:28492532 PMID:29270983 PMID:29713328 PMID:30697212 PMID:30778343 PMID:31673062 PMID:32532877 PMID:19043416 More...
RGD:11100026
NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632
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Krt1
keratin 1
ISO
ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma
ClinVar
PMID:25774499
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
ISO
ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma | ClinVar Annotator: match by term: ICHTHYOSIS WITH CONFETTI CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:9418775 PMID:20798280 PMID:21271994 PMID:22930352 PMID:25210931 PMID:25741868 PMID:26176760 PMID:27208707 PMID:27291450 PMID:28492532 PMID:28532675 PMID:31638346 PMID:32045015 PMID:32407542 PMID:34008892 More...
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Adrb3
adrenoceptor beta 3
ISO
protein:increased expression:retina (mouse)
RGD
PMID:20739470
RGD:5684355
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15387897
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Angpt2
angiopoietin 2
susceptibility
IDA IEP ISO
protein:increased expression:retina (rat) mRNA:increased expression:retina (mouse)
RGD
PMID:17692314 PMID:17692314 PMID:17065527
RGD:2314205 , RGD:2314205 , RGD:2314207
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Dll4
delta like canonical Notch ligand 4
treatment
IEP
RGD
PMID:30652694
RGD:155663485
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Epo
erythropoietin
IEP
protein:decreased expression:retina:
RGD
PMID:24630601
RGD:11041658
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Epor
erythropoietin receptor
IEP
protein:increased expression,increased activity:retina:
RGD
PMID:24630601
RGD:11041658
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Flt1
Fms related receptor tyrosine kinase 1
treatment
ISO IEP
RGD
PMID:21731737 PMID:30652694
RGD:5684426 , RGD:155663485
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Fzd4
frizzled class receptor 4
ISO
ClinVar Annotator: match by term: Retinopathy of prematurity
ClinVar
PMID:15733276 PMID:25741868 PMID:28492532
NCBI chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724
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Hgf
hepatocyte growth factor
ISO
RGD
PMID:10751359
RGD:8548546
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Icam1
intercellular adhesion molecule 1
IEP
mRNA:increased expression:retina (rat)
RGD
PMID:20368504
RGD:4145427
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Igf1
insulin-like growth factor 1
no_association
ISO IEP
protein:decreased expression:serum: mRNA:decreased expression:retina
RGD
PMID:20085549 PMID:20214047 PMID:16500767
RGD:8548825 , RGD:8548867 , RGD:8548852
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
ISO
associated with Obstetric Labor, Premature; protein:decreased expression:plasma:
RGD
PMID:23202391
RGD:12743584
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Ihh
Indian hedgehog signaling molecule
ISO
DNA:SNP
RGD
PMID:18787502
RGD:12910978
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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Il10
interleukin 10
ISO
protein:increased expression:vitreous humor
RGD
PMID:19700197
RGD:7364863
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1b
interleukin 1 beta
IDA
RGD
PMID:23113620
RGD:7204128
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Kdr
kinase insert domain receptor
treatment
ISO IEP
mRNA:increased expression:retina associated with premature birth;protein:increased expression:plasma:
RGD
PMID:21731737 PMID:30652694 PMID:15039215 PMID:18408080
RGD:5684426 , RGD:155663485 , RGD:8549753 , RGD:8549746
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Ndp
norrin cystine knot growth factor NDP
severity
ISO
DNA:missense mutations:exon:p.R121W, p.L108P (human)
RGD
PMID:9152134
RGD:8694210
NCBI chr X:5,796,487...5,820,934
Ensembl chr X:5,796,487...5,820,934
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Nos1
nitric oxide synthase 1
IEP
protein:increased expression:retina
RGD
PMID:23204802
RGD:7257667
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
IEP
protein:increased expression:retina
RGD
PMID:23204802
RGD:7257667
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
severity
ISO
DNA:duplication:intron:IVS4?-?+27 (human)
RGD
PMID:18334945
RGD:7771560
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Notch1
notch receptor 1
treatment
IEP
RGD
PMID:30652694
RGD:155663485
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Prss23
serine protease 23
ISO
ClinVar Annotator: match by term: Retinopathy of prematurity
ClinVar
PMID:15733276 PMID:25741868 PMID:28492532
NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
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RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B*38 (human)
RGD
PMID:24033735
RGD:7365093
NCBI chr20:3,314,830...3,318,106
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism: :HLA-DRB1*09, HLA-DRB1*14(human)
RGD
PMID:24033735
RGD:7365093
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Serpine1
serpin family E member 1
ISO
human protein in a rat model
RGD
PMID:14638747
RGD:8547810
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
IEP
mRNA, protein:increased expression:retina (rat)
RGD
PMID:21738387
RGD:8655555
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sod1
superoxide dismutase 1
susceptibility
ISO
DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human)
RGD
PMID:22958044
RGD:8655635
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:subretinal fluid:
RGD
PMID:10751359
RGD:8548546
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Recql4
RecQ like helicase 4
ISO ISS
ClinVar Annotator: match by term: Poikiloderma of Rothmund-Thomson | ClinVar Annotator: match by term: Rothmund-Thomson syndrome OMIM:268400 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15221963 PMID:15897384 PMID:15964893 PMID:17250521 PMID:18616953 PMID:18716613 PMID:20113479 PMID:21418107 PMID:24033266 PMID:24635570 PMID:25120469 PMID:25326635 PMID:25741868 PMID:26491355 PMID:27247962 PMID:28492532 PMID:29367366 PMID:29642415 PMID:31829210 PMID:10678659 More...
RGD:1599421
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Anapc1
anaphase promoting complex subunit 1
ISO
ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 1
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31303264
NCBI chr 3:115,850,117...115,930,259
Ensembl chr 3:115,850,185...115,930,273
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2
OMIM ClinVar
PMID:9536098 PMID:9878247 PMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 PMID:15964893 PMID:16199547 PMID:17576681 PMID:18504617 PMID:18616953 PMID:18716613 PMID:19291770 PMID:20113479 PMID:20503338 PMID:21143835 PMID:21418107 PMID:23238538 PMID:24033266 PMID:24518840 PMID:24635570 PMID:24728327 PMID:25120469 PMID:25741868 PMID:25966250 PMID:27247962 PMID:28039508 PMID:28486640 PMID:28492532 PMID:28767289 PMID:28873162 PMID:29168297 PMID:29367366 PMID:29478780 PMID:29625052 PMID:29641532 PMID:29642415 PMID:30007837 PMID:30086788 PMID:30306255 PMID:30651579 PMID:30680959 PMID:30724488 PMID:31604778 PMID:31829210 PMID:32139749 PMID:32482547 PMID:32659497 PMID:33046774 PMID:33077847 PMID:33294214 PMID:34308366 More...
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Ada
adenosine deaminase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar RGD
PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 PMID:1680289 PMID:1925539 PMID:1974554 PMID:2166947 PMID:2651461 PMID:2758612 PMID:2773932 PMID:2783588 PMID:3182793 PMID:3475710 PMID:3839802 PMID:6208479 PMID:7554472 PMID:7599635 PMID:7691348 PMID:8023852 PMID:8051429 PMID:8120281 PMID:8178821 PMID:8227344 PMID:8258146 PMID:8299233 PMID:8401541 PMID:8433873 PMID:8589684 PMID:8673127 PMID:9108404 PMID:9225964 PMID:9361033 PMID:9414266 PMID:9536098 PMID:9616253 PMID:9758612 PMID:9806422 PMID:11067872 PMID:11157502 PMID:14499267 PMID:16199547 PMID:16825284 PMID:17001642 PMID:17576681 PMID:18952502 PMID:19179314 PMID:19830125 PMID:21664875 PMID:21865538 PMID:22409989 PMID:22447032 PMID:22764473 PMID:22968453 PMID:23348723 PMID:24033266 PMID:25525159 PMID:25741868 PMID:25875700 PMID:26255240 PMID:26376800 PMID:27129325 PMID:27872624 PMID:28346229 PMID:28492532 PMID:29744787 PMID:30290665 PMID:31031743 PMID:31681265 PMID:31858364 PMID:32245326 PMID:32307643 PMID:32888943 PMID:34502390 PMID:8227344 More...
RGD:1300353
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Ak2
adenylate kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD ClinVar
PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:26229552 PMID:28331055 PMID:28492532 PMID:29270983 More...
NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632
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Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:15546002 PMID:17576681 PMID:25741868 PMID:28492532 PMID:14602880 More...
RGD:1549420
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Severe combined immunodeficiency disease
CTD ClinVar
PMID:8490660 PMID:15546002 PMID:25741868 PMID:28492532 PMID:33628209
NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
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Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Ciita
class II, major histocompatibility complex, transactivator
ISO
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Coro1a
coronin 1A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Dclre1c
DNA cross-link repair 1C
susceptibility
ISO
DNA:deletion:exon ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar RGD
PMID:11336668 PMID:12727634 PMID:20674517 PMID:21664875 PMID:22527898 PMID:24033266 PMID:25741868 PMID:25917813 PMID:26123418 PMID:28492532 PMID:29167666 PMID:11336668 More...
RGD:1601049
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Dock8
dedicator of cytokinesis 8
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:14722525 PMID:19776401 PMID:25724123 PMID:27891178 PMID:28492532 PMID:29930340 PMID:30697212 PMID:32888943 More...
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 PMID:28492532 PMID:35040011 More...
NCBI chr 8:87,415,266...87,517,935
Ensembl chr 8:87,414,593...87,518,353
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Epo
erythropoietin
ISO
Protein: decreased expression:skin
RGD
PMID:19826948
RGD:2313831
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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Il2
interleukin 2
ISO
RGD
PMID:2342538
RGD:1600060
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il2rg
interleukin 2 receptor subunit gamma
ISO
X-linked SCID, OMIM:300400
RGD
PMID:7557965
RGD:1600009
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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Il7r
interleukin 7 receptor
ISO
autosomal recessive T cell(-), B cell(+), NK cell(+) severe combined immunodeficiency, OMIM:608971 ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar RGD
PMID:15661025 PMID:16492442 PMID:17201233 PMID:17827065 PMID:18403192 PMID:18641513 PMID:21664875 PMID:23810098 PMID:24728327 PMID:24759676 PMID:25046553 PMID:25741868 PMID:26123418 PMID:27577878 PMID:27833609 PMID:28436970 PMID:28492532 PMID:30778343 PMID:32576985 PMID:32765500 PMID:33084842 PMID:9843216 More...
RGD:1600151
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Inpp5d
inositol polyphosphate-5-phosphatase D
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:25741868
NCBI chr 9:88,287,680...88,392,748
Ensembl chr 9:88,287,677...88,392,746
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Jak3
Janus kinase 3
treatment
ISO
ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:15220007 PMID:15644840 PMID:15661026 PMID:17433830 PMID:17644747 PMID:18559588 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30293248 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 PMID:9427607 More...
RGD:11531109
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kdm2b
lysine demethylase 2B
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:25741868
NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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Lck
LCK proto-oncogene, Src family tyrosine kinase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:27748010
NCBI chr 5:141,888,318...141,916,945
Ensembl chr 5:141,888,326...141,903,794
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Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:16585603 PMID:18845326 PMID:26151233 PMID:28492532 PMID:31604460
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Malt1
MALT1 paracaspase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
NCBI chr18:58,942,282...58,996,318
Ensembl chr18:58,942,299...58,994,260
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Mcfd2
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:21813566 PMID:23296427 PMID:23402911 PMID:25548164 PMID:25633902 PMID:25741868 PMID:27707659 PMID:28492532 PMID:31203817 PMID:31589614 PMID:32414565 More...
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:21310275 PMID:22857948 PMID:22975586 PMID:23233322 PMID:23283745 PMID:23299917 PMID:24038877 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:27841901 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28606303 PMID:28615295 PMID:28790153 PMID:30291343 PMID:30755392 PMID:31006259 PMID:31110529 PMID:31447099 PMID:31589614 PMID:32233023 PMID:33297573 PMID:33673806 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Myoc
myocilin
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 PMID:11535458 PMID:11803488 PMID:11815346 PMID:12189160 PMID:12522550 PMID:12872267 PMID:17562996 PMID:17615537 PMID:19023451 PMID:20021252 PMID:22933836 PMID:23029558 PMID:23304066 PMID:24732711 PMID:25741868 PMID:26396484 PMID:28492532 More...
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome
ClinVar
PMID:25741868
NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
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Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 PMID:28492532 PMID:35040011 More...
NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022
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Pnp
purine nucleoside phosphorylase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:1384322 PMID:9067751 PMID:22132981 PMID:23371835 PMID:24033266 PMID:24767876 PMID:25741868 PMID:28492532 PMID:33628209 More...
NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO IMP
RGD
PMID:9122213 PMID:22981234
RGD:1599202 , RGD:8696027
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
DNA:deletion ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar RGD
PMID:11145714
RGD:1599983
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Rac2
Rac family small GTPase 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:25741868 PMID:28492532 PMID:30723080
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Rag1
recombination activating 1
ISO IMP
ClinVar Annotator: match by term: Severe combined immunodeficiency disease Omenn syndrome, OMIM:179615
ClinVar RGD
PMID:290284 PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18463379 PMID:18768869 PMID:18822103 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19912631 PMID:20956421 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24144642 PMID:24290284 PMID:24331380 PMID:24406074 PMID:24418478 PMID:24985406 PMID:25516070 PMID:25741868 PMID:25869295 PMID:26186701 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26829731 PMID:27301863 PMID:27484032 PMID:27609655 PMID:28492532 PMID:28769923 PMID:28783691 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30877075 PMID:31130284 PMID:31632441 PMID:31980526 PMID:32445296 PMID:32655540 PMID:32888943 PMID:33193364 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:36279417 PMID:8810255 PMID:23150522 PMID:23136839 PMID:9630231 More...
RGD:1599402 , RGD:7204134 , RGD:7204131 , RGD:1599403
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag1em1Ang
recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon
IMP
RGD
PMID:23150522
RGD:7204134
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Rag1em1Ztm
recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover
IMP
RGD
PMID:23136839
RGD:7204131
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Rag2
recombination activating 2
ISO IMP
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar RGD
PMID:15025726 PMID:18463379 PMID:20603253 PMID:21131235 PMID:21624848 PMID:21664875 PMID:24174341 PMID:24331380 PMID:24481607 PMID:24996264 PMID:25109802 PMID:25333069 PMID:25741868 PMID:26457731 PMID:26476733 PMID:26515615 PMID:26996199 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30307608 PMID:30778343 PMID:31334206 PMID:31388879 PMID:32581362 PMID:32655540 PMID:32888943 PMID:8810255 PMID:30206106 More...
RGD:1599402 , RGD:38508903
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Rfx5
regulatory factor X5
ISO
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:7744245 PMID:9401005
RGD:1599743 , RGD:1599742
NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome
ClinVar RGD
PMID:9806546 PMID:10803838 PMID:16166641 PMID:21908431 PMID:25741868 PMID:28492532 PMID:12618906 More...
RGD:1599746
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
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Rfxap
regulatory factor X-associated protein
ISO
ClinVar Annotator: match by term: Bare Lymphocyte Syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:139,008,052...139,012,235
Ensembl chr 2:139,008,055...139,012,259
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Stk4
serine/threonine kinase 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
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Tapbp
TAP binding protein
ISO
type I bare lymphocyte syndrome, OMIM:604571
RGD
PMID:12149238
RGD:1599296
NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26642240
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Ttc7a
tetratricopeptide repeat domain 7A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
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Vdac2
voltage-dependent anion channel 2
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
PMID:25741868
NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISO
selective T-cell defect, OMIM:176947 ClinVar Annotator: match by term: Severe combined immunodeficiency disease CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8202713 PMID:28492532 PMID:33184721 PMID:35503492 PMID:8124727
RGD:1599880
NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
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Zbtb25
zinc finger and BTB domain containing 25
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency disease
ClinVar
NCBI chr 6:95,070,699...95,095,888
Ensembl chr 6:95,075,331...95,095,755
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: NHEJ1 SYNDROME | ClinVar Annotator: match by term: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | ClinVar Annotator: match by term: Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12604777 PMID:16199547 PMID:16439204 PMID:16439205 PMID:16571728 PMID:17317666 PMID:17576681 PMID:20597108 PMID:21721379 PMID:25661488 PMID:25741868 PMID:26122175 PMID:26193622 PMID:28492532 PMID:28741180 PMID:31130284 PMID:31589614 PMID:31589898 More...
NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444
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Dclre1c
DNA cross-link repair 1C
ISO ISS
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, partial OMIM:602450 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:11336668 PMID:12055248 PMID:12569164 PMID:12592555 PMID:12727634 PMID:14744996 PMID:15071507 PMID:15242402 PMID:15731174 PMID:15770702 PMID:16199547 PMID:17169382 PMID:17576681 PMID:18034425 PMID:18223550 PMID:19763152 PMID:19912631 PMID:19953608 PMID:19967552 PMID:20307669 PMID:20674517 PMID:21147755 PMID:21390052 PMID:21664875 PMID:22406018 PMID:22527898 PMID:23701501 PMID:24033266 PMID:24144642 PMID:24230999 PMID:25640679 PMID:25741868 PMID:25762520 PMID:25917813 PMID:25981738 PMID:26122175 PMID:26123418 PMID:26476407 PMID:26822949 PMID:27577878 PMID:27611239 PMID:28492532 PMID:28747913 PMID:29167666 PMID:32888943 PMID:34220820 PMID:34426522 PMID:36546626 More...
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar
PMID:12471202 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Meig1
meiosis/spermiogenesis associated 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar
PMID:14744996 PMID:15071507 PMID:19912631 PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532 More...
NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433
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Suv39h2
SUV39H2 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, atypical
ClinVar
PMID:8124727 PMID:20301777 PMID:25741868 PMID:27448562 PMID:28492532
NCBI chr 9:38,989,750...39,011,701
Ensembl chr 9:38,989,750...39,011,700
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Ada
adenosine deaminase
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
ClinVar
PMID:1346349 PMID:2651461 PMID:2773932 PMID:3182793 PMID:3475710 PMID:8401541 PMID:8614422 PMID:9758612 PMID:25326637 PMID:25741868 PMID:26376800 PMID:26467025 PMID:28492532 More...
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Dclre1c
DNA cross-link repair 1C
ISO
Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation
OMIA
PMID:17998435 PMID:22903400 PMID:23514746 PMID:25454085 PMID:26320255 PMID:27269786 PMID:27988511 PMID:28747915 PMID:29152615 PMID:30560086 PMID:30723704 PMID:30843296 PMID:32117254 PMID:32296428 PMID:34004455 More...
NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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Iftap
intraflagellar transport associated protein
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
ClinVar
NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
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Insl3
insulin-like 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
ClinVar
PMID:28492532
NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
ClinVar
PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16190968 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18845095 PMID:19203666 PMID:19282076 PMID:19659508 PMID:19763152 PMID:20132407 PMID:20307669 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22406018 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27174491 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:28917720 PMID:29049190 PMID:29375547 PMID:30032486 PMID:30177960 PMID:30290665 PMID:30697212 PMID:30778343 PMID:31031743 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32445296 PMID:32754152 PMID:32888943 PMID:32921793 PMID:33040328 PMID:33365035 PMID:33628209 PMID:34173127 PMID:34539671 PMID:35482138 More...
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISS
OMIM:601457
MouseDO
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15696198 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18223550 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24033266 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24985406 PMID:25516070 PMID:25707801 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26689875 PMID:26829731 PMID:27095930 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28623282 PMID:28747913 PMID:28769923 PMID:28783691 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31503426 PMID:31632441 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32655540 PMID:32670274 PMID:32888943 PMID:33193364 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35729272 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag2
recombination activating 2
ISO ISS
ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive OMIM:601457 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
OMIM ClinVar MouseDO CTD
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 PMID:11313270 PMID:15025726 PMID:16960852 PMID:17476358 PMID:17572155 PMID:18025461 PMID:18682256 PMID:19178939 PMID:19333736 PMID:19414857 PMID:20234091 PMID:21502542 PMID:21624848 PMID:22295088 PMID:23243423 PMID:23994475 PMID:24139496 PMID:24144642 PMID:24174341 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26692406 PMID:27730413 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30307608 PMID:30778343 PMID:31388879 PMID:32445296 PMID:32655540 PMID:32888943 More...
NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
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Rpl18a
ribosomal protein L18A
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
ClinVar
PMID:28492532
NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546
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Slc5a5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
ClinVar
PMID:28492532
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Txndc15
thioredoxin domain containing 15
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
ClinVar
PMID:25741868
NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,845,084...8,910,539
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Insl3
insulin-like 3
ISO
ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type
ClinVar
PMID:28492532
NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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Jak3
Janus kinase 3
ISO
DNA:point mutation, deletion:CDS:394A>G, pY100C (human) ClinVar Annotator: match by term: JAK3-related condition | ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:14615376 PMID:16190968 PMID:16199547 PMID:16843266 PMID:17252020 PMID:17433830 PMID:17456055 PMID:17576681 PMID:17644747 PMID:18270328 PMID:18397343 PMID:18845095 PMID:19203666 PMID:19282076 PMID:19659508 PMID:19763152 PMID:20132407 PMID:20307669 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21184155 PMID:21228398 PMID:21599579 PMID:21821710 PMID:21868263 PMID:22237106 PMID:22406018 PMID:22425895 PMID:23069490 PMID:23384681 PMID:23832011 PMID:24033266 PMID:24139496 PMID:24446122 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25333069 PMID:25395141 PMID:25505553 PMID:25595890 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26321643 PMID:26545580 PMID:26769277 PMID:26915675 PMID:27174491 PMID:27484032 PMID:27577878 PMID:27593409 PMID:28109013 PMID:28492532 PMID:28747913 PMID:28916186 PMID:28917720 PMID:29049190 PMID:29375547 PMID:30032486 PMID:30177960 PMID:30290665 PMID:30697212 PMID:30778343 PMID:31031743 PMID:31440277 PMID:31589898 PMID:32135276 PMID:32215810 PMID:32445296 PMID:32754152 PMID:32888943 PMID:32921793 PMID:33040328 PMID:33365035 PMID:33628209 PMID:34173127 PMID:34539671 PMID:35482138 PMID:7659163 More...
RGD:1600254
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Rpl18a
ribosomal protein L18A
ISO
ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type
ClinVar
PMID:28492532
NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546
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Slc5a5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type
ClinVar
PMID:28492532
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Coro1a
coronin 1A
ISS
OMIM:608971
MouseDO
NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Il7r
interleukin 7 receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
CTD ClinVar
PMID:15615257 PMID:20021794 PMID:21664875 PMID:25741868 PMID:26123418 PMID:28492532 PMID:28747913 PMID:32445296 PMID:33628209 More...
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Jak3
Janus kinase 3
ISS
OMIM:608971
MouseDO
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
ClinVar
PMID:7621884 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 PMID:12373647 PMID:15372250 PMID:16505159 PMID:19111528 PMID:21507955 PMID:25741868 PMID:28492532 More...
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Kif7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency
ClinVar
PMID:25741868
NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Aldh3a2
aldehyde dehydrogenase 3 family, member A2
ISO
ClinVar Annotator: match by term: ALDH3A2-related condition | ClinVar Annotator: match by term: FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCY | ClinVar Annotator: match by term: Fatty aldehyde dehydrogenase deficiency | ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8528251 PMID:9204959 PMID:9250352 PMID:9254849 PMID:9467812 PMID:9536098 PMID:9829906 PMID:10384396 PMID:10577908 PMID:10792573 PMID:10854114 PMID:11408337 PMID:15241804 PMID:15931689 PMID:16199547 PMID:16536828 PMID:16546179 PMID:16837225 PMID:16903323 PMID:17576681 PMID:17902024 PMID:17971613 PMID:17998529 PMID:18035827 PMID:19124283 PMID:19197545 PMID:19965611 PMID:20049467 PMID:21531120 PMID:21872273 PMID:21968182 PMID:22397046 PMID:23034980 PMID:23450279 PMID:24033266 PMID:25047030 PMID:25532748 PMID:25641190 PMID:25741868 PMID:25855245 PMID:27717089 PMID:28025403 PMID:28257279 PMID:28471629 PMID:28492532 PMID:29071827 PMID:29130490 PMID:29159939 PMID:29183715 PMID:29704247 PMID:30157790 PMID:30372562 PMID:30925032 PMID:31273323 PMID:31953843 PMID:32005694 PMID:32506993 More...
NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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Krt14
keratin 14
ISO
ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia
ClinVar
PMID:10971341 PMID:16614722 PMID:25741868 PMID:27283507 PMID:28492532 PMID:28830826 PMID:29130490 More...
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
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Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: MTOR-related condition | ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | ClinVar Annotator: match by term: Neurodevelopmental disorder, MTOR related | ClinVar Annotator: match by term: Overgrowth syndrome | ClinVar Annotator: match by term: Smith-Kingsmore syndrome
OMIM ClinVar
PMID:21210909 PMID:22729223 PMID:23322780 PMID:23636326 PMID:24625776 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:25851998 PMID:26542245 PMID:26619011 PMID:27159400 PMID:27279227 PMID:27482884 PMID:27513193 PMID:27753196 PMID:27830187 PMID:28475857 PMID:28492532 PMID:28554332 PMID:28892148 PMID:29051493 PMID:29281825 PMID:31441589 PMID:31444548 PMID:32581362 PMID:33077954 PMID:34197453 More...
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Overgrowth syndrome
ClinVar
PMID:25741868
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Overgrowth syndrome
ClinVar
PMID:25741868
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Kidins220
kinase D-interacting substrate 220
ISO
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 PMID:28934391 PMID:29667355 More...
NCBI chr 6:41,618,207...41,706,990
Ensembl chr 6:41,618,294...41,703,256
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Fgf14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 27A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 PMID:30017992 PMID:32162847 More...
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Fgf14
fibroblast growth factor 14
ISO
OMIM
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Fgf14
fibroblast growth factor 14
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spinocerebellar ataxia type 27 OMIM:193003
CTD ClinVar MouseDO
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 PMID:26089778 PMID:26467025 PMID:28492532 PMID:30017992 PMID:194719761 More...
NCBI chr15:101,045,033...101,679,888
Ensembl chr15:101,045,036...101,679,900
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Itgbl1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar
PMID:25741868
NCBI chr15:100,780,184...101,041,734
Ensembl chr15:100,780,184...101,041,733
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Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
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Rhog
ras homolog family member G
ISO
ClinVar Annotator: match by term: Stormorken syndrome
ClinVar
PMID:28492532
NCBI chr 1:156,618,713...156,630,710
Ensembl chr 1:156,615,349...156,631,257
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Stim1
stromal interaction molecule 1
ISO ISS
OMIM:185070 ClinVar Annotator: match by term: Stormorken syndrome | ClinVar Annotator: match by term: THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS
OMIM MouseDO ClinVar
PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 PMID:12944248 PMID:16199547 PMID:17576681 PMID:19420366 PMID:20876309 PMID:21427704 PMID:22190180 PMID:23332920 PMID:23851458 PMID:24033266 PMID:24492416 PMID:24570283 PMID:24591628 PMID:24619930 PMID:24621671 PMID:25044882 PMID:25326555 PMID:25577287 PMID:25640679 PMID:25741868 PMID:25918394 PMID:26184105 PMID:26255678 PMID:26436962 PMID:27066587 PMID:27239559 PMID:28492532 PMID:28624464 PMID:29237733 PMID:31844136 PMID:32098964 PMID:33468626 PMID:33628209 PMID:34498097 PMID:35724962 More...
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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Foxn1
forkhead box N1
ISO ISS
ClinVar Annotator: match by term: T-cell immunodeficiency, congenital alopecia, and nail dystrophy OMIM:601705 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8911612 PMID:9536098 PMID:10206641 PMID:15180707 PMID:15897400 PMID:16199547 PMID:17576681 PMID:18339010 PMID:20864124 PMID:20978268 PMID:21507891 PMID:24033266 PMID:25173801 PMID:25741868 PMID:27484032 PMID:28492532 PMID:28636882 PMID:31447097 PMID:31566583 PMID:33464451 PMID:37419334 More...
NCBI chr10:63,251,400...63,273,710
Ensembl chr10:63,251,400...63,273,710
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Acot8
acyl-CoA thioesterase 8
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,531,192...153,542,851
Ensembl chr 3:153,531,193...153,542,851
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Ada
adenosine deaminase
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Ccn5
cellular communication network factor 5
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,491,247...152,502,639
Ensembl chr 3:152,491,220...152,502,636
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Ctsa
cathepsin A
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
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Dbndd2
dysbindin domain containing 2
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,216,300...153,220,651
Ensembl chr 3:153,191,090...153,220,651
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Dnttip1
deoxynucleotidyltransferase, terminal, interacting protein 1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,481,718...153,505,403
Ensembl chr 3:153,481,705...153,505,759
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Eppin
epididymal peptidase inhibitor
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,312,396...153,319,310
Ensembl chr 3:153,312,396...153,319,310
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Fitm2
fat storage-inducing transmembrane protein 2
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,141,346...152,147,858
Ensembl chr 3:152,141,346...152,147,858
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Gdap1l1
ganglioside-induced differentiation-associated protein 1-like 1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,110,225...152,129,693
Ensembl chr 3:152,110,253...152,128,711
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Gtsf1l
gametocyte specific factor 1-like
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:151,736,020...151,738,715
Ensembl chr 3:151,735,997...151,736,863
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Ift52
intraflagellar transport 52
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:151,672,505...151,696,975
Ensembl chr 3:151,672,493...151,696,980
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Jph2
junctophilin 2
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:151,994,768...152,058,941
Ensembl chr 3:151,994,778...152,058,904
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Kcnk15
potassium two pore domain channel subfamily K member 15
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,515,237...152,521,455
Ensembl chr 3:152,515,237...152,521,455
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Kcns1
potassium voltage-gated channel, modifier subfamily S, member 1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,835,642...152,843,032
Ensembl chr 3:152,835,644...152,842,960
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Matn4
matrilin 4
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865
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Mmp9
matrix metallopeptidase 9
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mybl2
MYB proto-oncogene like 2
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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Neurl2
neuralized E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,566,659...153,569,380
Ensembl chr 3:153,566,660...153,569,380
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Oser1
oxidative stress responsive serine-rich 1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,066,975...152,085,180
Ensembl chr 3:152,066,975...152,085,149
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Pabpc1l
poly(A) binding protein, cytoplasmic 1-like
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,692,825...152,725,997
Ensembl chr 3:152,693,700...152,725,997
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Pcif1
phosphorylated CTD interacting factor 1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,614,147...153,627,079
Ensembl chr 3:153,614,147...153,627,079
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pkig
cAMP-dependent protein kinase inhibitor gamma
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,330,477...152,398,085
Ensembl chr 3:152,366,041...152,398,082
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Pltp
phospholipid transfer protein
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,574,825...153,592,647
Ensembl chr 3:153,574,825...153,592,647
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R3hdml
R3H domain containing-like
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,171,382...152,182,151
Ensembl chr 3:152,171,382...152,182,151
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Rbpjl
recombination signal binding protein for immunoglobulin kappa J region-like
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513
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Rims4
regulating synaptic membrane exocytosis 4
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,520,982...152,585,070
Ensembl chr 3:152,524,095...152,584,780
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Sdc4
syndecan 4
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
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Semg1
semenogelin 1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,910,033...152,912,882
Ensembl chr 3:152,910,034...152,912,882
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Serinc3
serine incorporator 3
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,301,882...152,321,327
Ensembl chr 3:152,301,772...152,321,808
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Slpi
secretory leukocyte peptidase inhibitor
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
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Snx21
sorting nexin family member 21
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,522,474...153,532,235
Ensembl chr 3:153,522,486...153,532,221
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Spata25
spermatogenesis associated 25
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,562,479...153,566,508
Ensembl chr 3:153,562,528...153,564,480
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Spint3
serine peptidase inhibitor, Kunitz type, 3
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779
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Spint4
serine peptidase inhibitor, Kunitz type 4
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,430,633...153,432,821
Ensembl chr 3:153,430,633...153,433,439
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Stk4
serine/threonine kinase 4
ISO
ClinVar Annotator: match by term: MST1 DEFICIENCY | ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22174160 PMID:22294732 PMID:25741868 PMID:26801501 PMID:28492532 PMID:34427831 More...
NCBI chr 3:152,745,958...152,827,747
Ensembl chr 3:152,745,681...152,827,744
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Sys1
Sys1 golgi trafficking protein
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,191,061...153,195,463
Ensembl chr 3:153,191,090...153,220,651
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Tnnc2
troponin C2, fast skeletal type
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029
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Tomm34
translocase of outer mitochondrial membrane 34
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,729,345...152,746,295
Ensembl chr 3:152,729,349...152,746,373
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Tox2
TOX high mobility group box family member 2
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:151,853,294...151,980,086
Ensembl chr 3:151,853,294...151,980,749
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Tp53tg5
TP53 target 5
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,200,792...153,204,337
Ensembl chr 3:153,200,789...153,204,349
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Ttpal
alpha tocopherol transfer protein like
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,278,246...152,296,550
Ensembl chr 3:152,278,303...152,296,513
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Ube2c
ubiquitin-conjugating enzyme E2C
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,506,636...153,509,036
Ensembl chr 3:153,506,636...153,513,339
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Wfdc10a
WAP four-disulfide core domain 10A
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,390,067...153,391,420
Ensembl chr 3:153,390,067...153,391,420
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Wfdc11
WAP four-disulfide core domain 11
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,397,585...153,406,407
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Wfdc12
WAP four-disulfide core domain 12
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,861,461...152,862,784
Ensembl chr 3:152,862,341...152,862,690
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Wfdc13
WAP four-disulfide core domain 13
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,419,553...153,421,306
Ensembl chr 3:153,419,648...153,421,221
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Wfdc2
WAP four-disulfide core domain 2
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,286,946...153,314,832
Ensembl chr 3:153,286,131...153,292,807
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Wfdc3
WAP four-disulfide core domain 3
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,464,862...153,478,952
Ensembl chr 3:153,464,862...153,478,952
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Wfdc5
WAP four-disulfide core domain 5
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,849,025...152,854,868
Ensembl chr 3:152,849,025...152,854,904
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Wfdc6a
WAP four-disulfide core domain 6A
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,305,336...153,309,144
Ensembl chr 3:153,305,336...153,309,144
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Wfdc8
WAP four-disulfide core domain 8
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,323,503...153,339,849
Ensembl chr 3:153,324,413...153,339,842
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Wfdc9
WAP four-disulfide core domain 9
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,380,554...153,389,055
Ensembl chr 3:153,380,649...153,391,261
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Ywhab
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:152,659,663...152,682,105
Ensembl chr 3:152,659,651...152,682,105
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Zfp335
zinc finger protein 335
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,618,587...153,648,213
Ensembl chr 3:153,627,467...153,647,054
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Zswim1
zinc finger, SWIM-type containing 1
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,559,104...153,562,821
Ensembl chr 3:153,558,970...153,562,915
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Zswim3
zinc finger, SWIM-type containing 3
ISO
ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
ClinVar
PMID:22174160 PMID:28492532
NCBI chr 3:153,542,741...153,558,022
Ensembl chr 3:153,542,743...153,558,018
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Fgfr3
fibroblast growth factor receptor 3
ISO ISS
ClinVar Annotator: match by term: Thanatophoric dwarfism OMIM:187600 | OMIM:187601 | OMIM:273680 DNA:missense mutation:exon:p.S365C (mouse) protein:increased expression:necleus,chondrocyte: CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 PMID:9677066 PMID:9790257 PMID:10053006 PMID:10471491 PMID:11055896 PMID:11241532 PMID:11429702 PMID:12009017 PMID:12624096 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:19088846 PMID:19381019 PMID:19855393 PMID:20301540 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:23972473 PMID:24075385 PMID:24863959 PMID:25157968 PMID:25614871 PMID:25741868 PMID:28492532 PMID:31994750 PMID:33942288 PMID:34930662 PMID:10073901 PMID:11181569 PMID:9302269 More...
RGD:2289863 , RGD:12910972 , RGD:11568030
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Hspg2
heparan sulfate proteoglycan 2
ISS
OMIM:187600 | OMIM:187601 | OMIM:273680
MouseDO
NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9790257 PMID:9843049 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11429702 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12009017 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19331127 PMID:19381019 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20542753 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:22869148 PMID:23056398 PMID:23200862 PMID:23972473 PMID:24075385 PMID:24419316 PMID:24476948 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28249712 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589699 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11429702 PMID:11529856 PMID:11746040 PMID:11879084 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17384684 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22622662 PMID:23056398 PMID:23972473 PMID:24075385 PMID:24728327 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26619011 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
B4galt7
beta-1,4-galactosyltransferase 7
ISO
ClinVar Annotator: match by term: Lethal skeletal dysplasia
ClinVar
PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 PMID:20809901 PMID:23956117 PMID:24755949 PMID:25533962 PMID:25741868 PMID:26940150 PMID:28492532 PMID:31278392 More...
NCBI chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573
G
Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant CTD Direct Evidence: marker/mechanism DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse)
OMIM ClinVar CTD RGD
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:14729840 PMID:15266623 PMID:17078022 PMID:17347327 PMID:17726487 PMID:18272325 PMID:18276201 PMID:19344236 PMID:21442341 PMID:22791362 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26443184 PMID:26467025 PMID:26633542 PMID:28492532 PMID:35052477 PMID:21538020 More...
RGD:11667102
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
G
Abcc8
ATP binding cassette subfamily C member 8
ISS ISO
OMIM:601410 | OMIM:610374 | OMIM:610582 ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
MouseDO ClinVar
PMID:1021286 PMID:2198959 PMID:8751851 PMID:8923011 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9648840 PMID:9769320 PMID:9867219 PMID:10194514 PMID:10202168 PMID:10204114 PMID:10334322 PMID:10338089 PMID:10400694 PMID:10426386 PMID:10447255 PMID:10685980 PMID:10720932 PMID:11226335 PMID:11318841 PMID:11395395 PMID:11692183 PMID:11872696 PMID:11999683 PMID:12169627 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:12941782 PMID:14764815 PMID:15111507 PMID:15579781 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16416420 PMID:16429405 PMID:16455067 PMID:16613899 PMID:16885549 PMID:17114887 PMID:17257281 PMID:17378627 PMID:17384337 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:18025408 PMID:18346985 PMID:18414213 PMID:18596924 PMID:18758683 PMID:18767144 PMID:18981553 PMID:18988933 PMID:19214942 PMID:19233137 PMID:19475716 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:19766903 PMID:20301620 PMID:20424228 PMID:20573158 PMID:20685672 PMID:20943779 PMID:20943781 PMID:21109997 PMID:21142918 PMID:21378087 PMID:21422196 PMID:21536946 PMID:21674179 PMID:21716120 PMID:21968111 PMID:21978130 PMID:21989597 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22533711 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22855730 PMID:22876564 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:24033266 PMID:24044690 PMID:24072082 PMID:24332968 PMID:24401662 PMID:24686051 PMID:25008049 PMID:25201519 PMID:25323548 PMID:25741868 PMID:25765446 PMID:26180531 PMID:26208381 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26740944 PMID:27188453 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27682711 PMID:27889714 PMID:27908292 PMID:28270372 PMID:28442472 PMID:28492532 PMID:28587604 PMID:28701683 PMID:29216354 PMID:29644095 PMID:29893194 PMID:30186238 PMID:30352420 PMID:30386300 PMID:30395892 PMID:30515958 PMID:31208162 PMID:31589614 PMID:31727138 PMID:31997554 PMID:32027066 PMID:32202736 PMID:32333556 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32935446 PMID:33046911 PMID:33185579 PMID:33565752 PMID:34194474 PMID:34462253 PMID:34631896 PMID:34764980 PMID:34927408 PMID:35029855 PMID:36208030 PMID:37007940 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Cel
carboxyl ester lipase
ISO
ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar
PMID:25741868 PMID:32906201
NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035
G
Gck
glucokinase
ISO
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar
PMID:7555485 PMID:8068341 PMID:8325892 PMID:8349034 PMID:8433729 PMID:8454109 PMID:9536098 PMID:10447526 PMID:11315850 PMID:11315851 PMID:11942313 PMID:12442280 PMID:12627330 PMID:14517946 PMID:14517956 PMID:15305805 PMID:15841481 PMID:15918042 PMID:15928245 PMID:16963153 PMID:16965331 PMID:17573900 PMID:17576681 PMID:18271687 PMID:19790256 PMID:20132997 PMID:21604084 PMID:22493702 PMID:22611063 PMID:24097065 PMID:24518839 PMID:24578721 PMID:24728127 PMID:25015100 PMID:25741868 PMID:25850297 PMID:26467025 PMID:27269892 PMID:27913849 PMID:28492532 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33072637 PMID:33129248 PMID:37008541 More...
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Glis3
GLIS family zinc finger 3
ISO
ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar
PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 PMID:29992946 PMID:32693112 PMID:35394098 More...
NCBI chr 1:225,976,029...226,395,849
Ensembl chr 1:225,976,326...226,395,899
G
Ins1
insulin 1
ISO
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20938745 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30456822 PMID:32916194 PMID:33206859 PMID:33953728 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
G
Ins2
insulin 2
ISO
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive
ClinVar
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20938745 PMID:22572540 PMID:24275212 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30455893 PMID:30456822 PMID:32916194 PMID:33206859 PMID:33953728 PMID:35083481 More...
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant | ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15115830 PMID:15292329 PMID:15448107 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16123337 PMID:16455067 PMID:16670688 PMID:16731837 PMID:16885549 PMID:17021801 PMID:17257281 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17466004 PMID:17823772 PMID:17919178 PMID:18414213 PMID:18758683 PMID:18767144 PMID:19065048 PMID:19139106 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:21056492 PMID:21544516 PMID:21682153 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22648966 PMID:22701567 PMID:22704848 PMID:22768671 PMID:22815030 PMID:24068186 PMID:24150202 PMID:24622368 PMID:25555642 PMID:25678012 PMID:25739471 PMID:25741868 PMID:26448950 PMID:26467025 PMID:26839896 PMID:26958039 PMID:27681997 PMID:28083968 PMID:28492532 PMID:29893194 PMID:32279225 PMID:32792356 PMID:32893419 PMID:32935446 PMID:33816067 PMID:34566892 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Th
tyrosine hydroxylase
ISO
ClinVar Annotator: match by term: Transient Neonatal Diabetes, Dominant/Recessive
ClinVar
PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:22572540 PMID:24275212 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30455893 PMID:30456822 PMID:33206859 PMID:33953728 PMID:35083481 More...
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
G
Zfp57
zinc finger protein 57
ISO
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal | ClinVar Annotator: match by term: Transient Neonatal Diabetes, Recessive
ClinVar
PMID:18414213 PMID:18622393 PMID:23748067 PMID:25741868 PMID:28492532 PMID:30315371 PMID:31064016 More...
NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846
G
Zfp57
zinc finger protein 57
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 1
OMIM CTD ClinVar
PMID:18197189 PMID:18414213 PMID:18622393 PMID:23499433 PMID:23748067 PMID:25741868 PMID:28492532 PMID:30315371 PMID:31064016 More...
NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8650576 PMID:8923011 PMID:9075812 PMID:9382893 PMID:9519757 PMID:9536098 PMID:9568693 PMID:9618169 PMID:9642650 PMID:9648840 PMID:9769320 PMID:10204114 PMID:10338089 PMID:10426386 PMID:10685980 PMID:10857971 PMID:11867634 PMID:12166651 PMID:12784138 PMID:12941782 PMID:14692646 PMID:14715863 PMID:14764815 PMID:15111507 PMID:15356046 PMID:15466080 PMID:15562009 PMID:15579781 PMID:15580558 PMID:15718250 PMID:15842514 PMID:16186397 PMID:16199547 PMID:16357843 PMID:16367916 PMID:16380471 PMID:16416420 PMID:16429405 PMID:16442101 PMID:16613899 PMID:16882742 PMID:16885549 PMID:17236890 PMID:17378627 PMID:17389331 PMID:17446535 PMID:17466004 PMID:17539904 PMID:17575084 PMID:17576681 PMID:17668386 PMID:17823772 PMID:17919176 PMID:17957187 PMID:18025408 PMID:18025464 PMID:18073294 PMID:18339976 PMID:18346985 PMID:18414213 PMID:18436707 PMID:18596924 PMID:18599530 PMID:18758683 PMID:18767144 PMID:18796520 PMID:18981553 PMID:19151370 PMID:19475716 PMID:19766903 PMID:19933268 PMID:20427569 PMID:20432820 PMID:20685672 PMID:20799350 PMID:20849526 PMID:20922570 PMID:20943779 PMID:20943781 PMID:21142918 PMID:21321069 PMID:21378087 PMID:21411514 PMID:21422196 PMID:21536946 PMID:21544516 PMID:21674179 PMID:21814221 PMID:21978130 PMID:21989597 PMID:22151254 PMID:22210575 PMID:22451668 PMID:22533711 PMID:22562119 PMID:22704848 PMID:22749773 PMID:22802363 PMID:22855730 PMID:22902787 PMID:23067144 PMID:23275527 PMID:23301914 PMID:23345197 PMID:23506826 PMID:23652837 PMID:23744072 PMID:23798684 PMID:23807917 PMID:24033266 PMID:24332968 PMID:24401662 PMID:24434300 PMID:24622368 PMID:24645945 PMID:24750227 PMID:24768178 PMID:24814349 PMID:24937539 PMID:24959012 PMID:25008049 PMID:25117148 PMID:25201519 PMID:25306193 PMID:25518065 PMID:25525159 PMID:25555642 PMID:25584046 PMID:25720052 PMID:25741868 PMID:25765446 PMID:25871929 PMID:25931474 PMID:25955821 PMID:25972930 PMID:26180531 PMID:26221353 PMID:26316440 PMID:26379717 PMID:26431509 PMID:26448950 PMID:26467025 PMID:26545620 PMID:26740944 PMID:26758964 PMID:26839896 PMID:27188453 PMID:27313609 PMID:27538677 PMID:27573238 PMID:27677908 PMID:27681997 PMID:27682711 PMID:27908292 PMID:27913849 PMID:28270372 PMID:28346775 PMID:28442472 PMID:28492532 PMID:28529015 PMID:28587604 PMID:28663158 PMID:28757749 PMID:29127764 PMID:29207974 PMID:29216354 PMID:29644095 PMID:29751826 PMID:30098243 PMID:30186238 PMID:30191644 PMID:30276209 PMID:30297969 PMID:30352420 PMID:30354297 PMID:30386300 PMID:30395892 PMID:30447144 PMID:30462810 PMID:30515958 PMID:30977832 PMID:31002010 PMID:31264968 PMID:31291970 PMID:31525223 PMID:31595705 PMID:31604004 PMID:31821855 PMID:32027066 PMID:32041611 PMID:32170320 PMID:32267248 PMID:32376986 PMID:32640185 PMID:32670376 PMID:32792356 PMID:32893419 PMID:32928245 PMID:32934261 PMID:33046911 PMID:33300273 PMID:33400071 PMID:33410562 PMID:33728157 PMID:34171966 PMID:34194474 PMID:34253504 PMID:34309670 PMID:34426522 PMID:34462253 PMID:34566892 PMID:34631896 PMID:34777243 PMID:35029855 PMID:35402560 PMID:36208030 PMID:36339418 PMID:36407475 PMID:36626423 PMID:36699461 PMID:37007940 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2
ClinVar
PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
G
Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3
ClinVar
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12475776 PMID:12540637 PMID:12540638 PMID:15111507 PMID:15579791 PMID:15580558 PMID:15718250 PMID:15797964 PMID:15855351 PMID:16455067 PMID:17257281 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17823772 PMID:18414213 PMID:18758683 PMID:19214942 PMID:19233137 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20301620 PMID:20424228 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22591706 PMID:22701567 PMID:22704848 PMID:25741868 PMID:26448950 PMID:26467025 PMID:28492532 PMID:29893194 PMID:32935446 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
G
Kcnj11
potassium inwardly-rectifying channel, subfamily J, member 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3
CTD OMIM ClinVar
PMID:2270156 PMID:2462236 PMID:8897013 PMID:9867219 PMID:10338089 PMID:10559219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 PMID:12364426 PMID:12475776 PMID:12524280 PMID:12540637 PMID:12540638 PMID:14551916 PMID:14715863 PMID:14871556 PMID:15111507 PMID:15115830 PMID:15292329 PMID:15448106 PMID:15504982 PMID:15531505 PMID:15562009 PMID:15579791 PMID:15580558 PMID:15583126 PMID:15718250 PMID:15784703 PMID:15797964 PMID:15807877 PMID:15838686 PMID:15855351 PMID:15886397 PMID:16123337 PMID:16205880 PMID:16357843 PMID:16416420 PMID:16455067 PMID:16609879 PMID:16670688 PMID:16731837 PMID:16885550 PMID:17021801 PMID:17065345 PMID:17257281 PMID:17316607 PMID:17327377 PMID:17446535 PMID:17463246 PMID:17463248 PMID:17463249 PMID:17475937 PMID:17490422 PMID:17491708 PMID:17635943 PMID:17673911 PMID:17823772 PMID:17901525 PMID:18250167 PMID:18290324 PMID:18414213 PMID:18662362 PMID:18758683 PMID:18767144 PMID:19214942 PMID:19233137 PMID:19372376 PMID:19491206 PMID:19498446 PMID:19578796 PMID:19587354 PMID:19685080 PMID:20049716 PMID:20220270 PMID:20301620 PMID:20424228 PMID:20466780 PMID:20589481 PMID:20685672 PMID:20686794 PMID:21115269 PMID:21119644 PMID:21422196 PMID:21544516 PMID:21765448 PMID:22082043 PMID:22163043 PMID:22209866 PMID:22264780 PMID:22289434 PMID:22311976 PMID:22471336 PMID:22512215 PMID:22591706 PMID:22701567 PMID:22704848 PMID:22768671 PMID:22831748 PMID:22958899 PMID:23275527 PMID:23320570 PMID:23345197 PMID:23667671 PMID:23950723 PMID:24018988 PMID:24401662 PMID:24421282 PMID:24434300 PMID:24622368 PMID:24686051 PMID:24698822 PMID:25247988 PMID:25308342 PMID:25555642 PMID:25637631 PMID:25639667 PMID:25741868 PMID:25871929 PMID:25972930 PMID:26448950 PMID:26467025 PMID:26509005 PMID:26740944 PMID:26839896 PMID:26958039 PMID:27033559 PMID:27118464 PMID:27173951 PMID:27181376 PMID:27681997 PMID:27691052 PMID:27908292 PMID:28123437 PMID:28347637 PMID:28352326 PMID:28442472 PMID:28480665 PMID:28492532 PMID:28587604 PMID:28925365 PMID:29216354 PMID:29893194 PMID:30297969 PMID:30377186 PMID:31291970 PMID:32027066 PMID:32101525 PMID:32893419 PMID:32935446 PMID:33046911 PMID:33324081 PMID:33853507 PMID:33987715 PMID:34566892 PMID:34737607 PMID:35402560 More...
NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
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Alb
albumin
ISO
RGD
PMID:23208016
RGD:11035270
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Umbilical hernia
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22473653
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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Fgfr1
Fibroblast growth factor receptor 1
ISO
RGD
PMID:21238647
RGD:11567270
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2
fibroblast growth factor receptor 2
ISO
RGD
PMID:21238647
RGD:11567270
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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Plod1
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Umbilical hernia
ClinVar
PMID:25741868
NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
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Bglap
bone gamma-carboxyglutamate protein
ISO
RGD
PMID:16869104
RGD:6483568
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Ggcx
gamma-glutamyl carboxylase
no_association
ISO
RGD
PMID:11154138
RGD:11040513
NCBI chr 4:104,469,737...104,485,631
Ensembl chr 4:104,469,765...104,487,063
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Ifit1
interferon-induced protein with tetratricopeptide repeats 1
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435
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Ifit2
interferon-induced protein with tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,102,570...232,108,638
Ensembl chr 1:232,102,570...232,108,635
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Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,114,166...232,119,311
Ensembl chr 1:232,114,166...232,119,307
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Lipa
lipase A, lysosomal acid type
ISO ISS
ClinVar Annotator: match by term: Wolman disease
ClinVar MouseDO OMIM RGD
PMID:1056246 PMID:2129132 PMID:3118057 PMID:7499245 PMID:7751811 PMID:7759067 PMID:7773732 PMID:7833918 PMID:8146180 PMID:8254026 PMID:8598644 PMID:8617513 PMID:8864960 PMID:8894696 PMID:8956047 PMID:9367797 PMID:9536098 PMID:9554751 PMID:9633819 PMID:9684740 PMID:9925650 PMID:10562460 PMID:10627498 PMID:10746035 PMID:11441129 PMID:16199547 PMID:16255772 PMID:17576681 PMID:21291321 PMID:21757691 PMID:21963785 PMID:22138108 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23430518 PMID:23485521 PMID:23583223 PMID:24048164 PMID:24072694 PMID:24792990 PMID:24832708 PMID:24993530 PMID:25620107 PMID:25624737 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26252914 PMID:26350820 PMID:26913919 PMID:27423329 PMID:27624512 PMID:28179030 PMID:28220406 PMID:28374935 PMID:28492532 PMID:28502505 PMID:28502515 PMID:28881270 PMID:29196158 PMID:29958253 PMID:30249571 PMID:30270055 PMID:30665623 PMID:30684275 PMID:31113597 PMID:31131398 PMID:31180157 PMID:31182375 PMID:31230978 PMID:31392116 PMID:31412917 PMID:32041611 PMID:32382506 PMID:6097111 PMID:8146180 More...
RGD:1600621 , RGD:1600620
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Slc16a12
solute carrier family 16, member 12
ISO
ClinVar Annotator: match by term: Wolman disease
ClinVar
PMID:28492532
NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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Lipa
lipase A, lysosomal acid type
ISO
ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis
ClinVar
PMID:7751811 PMID:7759067 PMID:8254026 PMID:8598644 PMID:8617513 PMID:9536098 PMID:9684740 PMID:10562460 PMID:16255772 PMID:17576681 PMID:21757691 PMID:22227072 PMID:22795295 PMID:23424026 PMID:23485521 PMID:24072694 PMID:25722898 PMID:25741868 PMID:25852113 PMID:26225414 PMID:26350820 PMID:27423329 PMID:28492532 PMID:28502505 PMID:28502515 PMID:29196158 PMID:29958253 PMID:31182375 PMID:31392116 PMID:32041611 More...
NCBI chr 1:232,024,351...232,057,735
Ensembl chr 1:232,024,356...232,057,633
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Pnpla4
patatin like phospholipase domain containing 4
ISO
ClinVar Annotator: match by term: Recessive X-linked ichthyosis
ClinVar
PMID:3007328 PMID:7208152 PMID:18413370
NCBI chr X:42,313,554...42,318,451
Ensembl chr X:42,305,373...42,318,552
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Pudp
pseudouridine 5'-phosphatase
ISO
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis
ClinVar
PMID:3007328 PMID:7208152 PMID:18413370 PMID:31690835
NCBI chr18:43,878,374...43,880,756
Ensembl chr18:43,878,080...43,880,791
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Sts
steroid sulfatase
ISO
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 PMID:9252398 PMID:9623797 PMID:10679952 PMID:14641695 PMID:18413370 PMID:25741868 PMID:28492532 PMID:31690835 PMID:35822528 More...
NCBI chr X:42,225,131...42,233,403
Ensembl chr X:42,225,372...42,233,402
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Mbtps2
membrane-bound transcription factor peptidase, site 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked
OMIM CTD ClinVar
PMID:8745901 PMID:20672378 PMID:23316014 PMID:25741868
NCBI chr X:37,410,914...37,461,130
Ensembl chr X:37,410,811...37,464,430
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Yy2
YY2 transcription factor
ISO
ClinVar Annotator: match by term: Keratosis follicularis spinulosa decalvans, X-linked
ClinVar
PMID:25741868
NCBI chr X:37,438,425...37,442,047
Ensembl chr X:37,410,811...37,464,430
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Gjb1
gap junction protein, beta 1
ISO
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar
PMID:28492532
NCBI chr X:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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Il2rg
interleukin 2 receptor subunit gamma
ISO IMP
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
OMIM ClinVar RGD
PMID:2169613 PMID:2984567 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7683423 PMID:7860773 PMID:7883965 PMID:7973658 PMID:7973659 PMID:8027558 PMID:8088810 PMID:8298124 PMID:8299698 PMID:8401490 PMID:8462096 PMID:8522327 PMID:8541866 PMID:8557662 PMID:8605324 PMID:8712778 PMID:8781427 PMID:8900089 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9150730 PMID:9150740 PMID:9399950 PMID:9536098 PMID:9633906 PMID:9885222 PMID:10444186 PMID:10784449 PMID:10792291 PMID:10794430 PMID:10794431 PMID:11129345 PMID:11213805 PMID:11260071 PMID:11874464 PMID:11961146 PMID:12070011 PMID:12126929 PMID:14722921 PMID:14966353 PMID:16199547 PMID:16227049 PMID:16293754 PMID:16760466 PMID:17576681 PMID:17598841 PMID:18615703 PMID:18641513 PMID:18688286 PMID:18728247 PMID:18941169 PMID:19398866 PMID:20301584 PMID:21184155 PMID:21732012 PMID:21865537 PMID:22039266 PMID:23250629 PMID:23374275 PMID:23683512 PMID:24534054 PMID:24612091 PMID:25042067 PMID:25109802 PMID:25326637 PMID:25741868 PMID:25843602 PMID:25869287 PMID:26525228 PMID:26547715 PMID:27484032 PMID:27566612 PMID:28109013 PMID:28359783 PMID:28492532 PMID:28747913 PMID:29658452 PMID:29948574 PMID:30290665 PMID:30622570 PMID:30778380 PMID:30850927 PMID:31024866 PMID:31799703 PMID:31965297 PMID:32265911 PMID:32499645 PMID:32888943 PMID:33412294 PMID:33628209 PMID:20111598 More...
RGD:2316325
NCBI chr X:66,395,330...66,399,026
Ensembl chr X:66,392,542...66,399,823
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Il2rgem1Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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Il2rgem2Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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Itgb1bp2
integrin subunit beta 1 binding protein 2
ISO
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar
PMID:28492532
NCBI chr X:66,572,537...66,577,174
Ensembl chr X:66,572,537...66,577,174
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar
PMID:28492532
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Nlgn3
neuroligin 3
ISO
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar
PMID:28492532
NCBI chr X:66,427,926...66,457,378
Ensembl chr X:66,429,458...66,451,876
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Nono
non-POU domain containing, octamer-binding
ISO
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar
PMID:28492532
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Taf1
TATA-box binding protein associated factor 1
ISO
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar
PMID:28492532
NCBI chr X:66,640,915...66,716,543
Ensembl chr X:66,640,982...66,716,543
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Zmym3
zinc finger MYM-type containing 3
ISO
ClinVar Annotator: match by term: X-linked severe combined immunodeficiency
ClinVar
PMID:28492532
NCBI chr X:66,528,585...66,544,234
Ensembl chr X:66,528,585...66,544,782
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