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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
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Accession:DOID:9003548 term browser 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



show annotations for term's descendants           Sort by:
Infant, Newborn, Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: SCID due to ADA deficiency, delayed onset | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
OMIM
ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G 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
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:14722525 PMID:16199547 PMID:18060736 PMID:19776401 PMID:24033266 More... NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 PMID:11213805 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G 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 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 PMID:11133745 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
Annular Epidermolytic Ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Annular epidermolytic ichthyosis ClinVar PMID:8751983 PMID:10053007 PMID:14708600 PMID:15214894 PMID:22250628 More... NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Annular epidermolytic ichthyosis
CTD
ClinVar
PMID:22035476 PMID:25741868 PMID:28492532 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
JBrowse link
Annular Epidermolytic Ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO OMIM NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
JBrowse link
Annular Epidermolytic Ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt1 keratin 1 ISO ClinVar Annotator: match by term: Ichthyosis, annular epidermolytic, 2 OMIM
ClinVar
PMID:10053007 PMID:15214894 PMID:22250628 PMID:25741868 PMID:28492532 More... NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
JBrowse link
asphyxia neonatorum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G 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
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963755 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
OMIM
RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 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
JBrowse link
autosomal recessive congenital ichthyosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
G 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:17576681 PMID:18347291 PMID:19131948 More... NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis ClinVar PMID:11398099 PMID:16116617 PMID:19131948 PMID:19890349 PMID:22622417 More... NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G 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
JBrowse link
G 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:25741868 PMID:25998749 PMID:26056268 PMID:26646773 More... NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
JBrowse link
G 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
JBrowse link
G 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:26691440 PMID:26778108 More... NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
JBrowse link
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: Congenital ichthyosis of skin ClinVar PMID:25741868 PMID:28369735 PMID:28492532 PMID:28906551 PMID:31671075 More... NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
JBrowse link
G 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:26783444 PMID:27025581 More... NCBI chr 3:13,075,022...13,087,943
Ensembl chr 3:13,075,022...13,087,943
JBrowse link
G 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:7824952 PMID:9178327 PMID:9261103 PMID:9326318 More... NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G 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
JBrowse link
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21739938 PMID:11773004 RGD:1599073 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G 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
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 ClinVar
OMIM
RGD
PMID:7581379 PMID:7773290 PMID:7824952 PMID:9178327 PMID:9261103 More... RGD:1599417 NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
JBrowse link
G 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 More... NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G Pnpla1 patatin-like phospholipase domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 OMIM
ClinVar
PMID:3757302 PMID:22246504 PMID:23352160 PMID:24033266 PMID:24344921 More... NCBI chr20:6,918,446...6,951,650
Ensembl chr20:6,917,931...6,952,375
JBrowse link
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp14 caspase 14 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 12 OMIM
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
JBrowse link
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdr9c7 short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: Ichthyosis, congenital, autosomal recessive 13 OMIM
ClinVar
PMID:25741868 PMID:28173123 PMID:28369735 PMID:28492532 PMID:28906551 More... NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
JBrowse link
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 2 OMIM
ClinVar
PMID:9536098 PMID:11773004 PMID:16116617 PMID:16199547 PMID:17139268 More... NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G 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 More... NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G 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
JBrowse link
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 3 OMIM
ClinVar
PMID:9536098 PMID:11398099 PMID:11773004 PMID:16116617 PMID:17576681 More... NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal 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
JBrowse link
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4A OMIM
ClinVar
PMID:8845852 PMID:10094194 PMID:12915478 PMID:15756637 PMID:19262603 More... NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca12 ATP binding cassette subfamily A member 12 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 4B OMIM
ClinVar
PMID:15756637 PMID:16902423 PMID:17684380 PMID:19262603 PMID:19664001 More... NCBI chr 9:72,822,661...72,995,748
Ensembl chr 9:72,823,350...72,996,049
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 OMIM
ClinVar
PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 More... NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181
JBrowse link
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nipal4 NIPA-like domain containing 4 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 6 OMIM
ClinVar
PMID:15317751 PMID:17557927 PMID:19434086 PMID:20016120 PMID:20301593 More... NCBI chr10:30,583,926...30,600,640
Ensembl chr10:30,583,926...30,600,640
JBrowse link
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lipn lipase, family member N ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:231,586,197...231,602,370
Ensembl chr 1:231,584,956...231,603,468
JBrowse link
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 9 OMIM
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
JBrowse link
autosomal recessive congenital nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Nystagmus, congenital, autosomal recessive OMIM
ClinVar
PMID:35348658 NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
JBrowse link
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G 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
JBrowse link
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1, and/or myokymia OMIM
ClinVar
PMID:2847176 PMID:3360469 PMID:4055306 PMID:7980108 PMID:9425895 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G 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
DNA:missense mutation:cds:p.W309R (human)
DNA:missense mutation:cds:p.G263V (human)
OMIM
ClinVar
RGD
PMID:1859177 PMID:9425900 PMID:9536098 PMID:10852552 PMID:14534157 More... RGD:9686433, RGD:9686418 NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
Benign Neonatal Epilepsy 1, and/or Myokymia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
benign neonatal seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr18:50,003,242...50,042,193
Ensembl chr18:50,009,934...50,042,193
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Neonatal seizure ClinVar NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G 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
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Benign neonatal seizures
CTD
ClinVar
PMID:18625963 PMID:19380078 PMID:19464834 PMID:26910900 PMID:28492532 NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
JBrowse link
G 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 More... NCBI chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
JBrowse link
G 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
JBrowse link
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
JBrowse link
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 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
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 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
Birth Injuries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,317,733...24,323,361 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Brms1l BRMS1 like transcriptional repressor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:73,266,673...73,300,631
Ensembl chr 6:73,266,691...73,300,631
JBrowse link
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
JBrowse link
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
JBrowse link
G Cbln3 cerebellin 3 precursor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,361,885...29,364,778
Ensembl chr15:29,362,302...29,364,612
JBrowse link
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
JBrowse link
G Cebpe CCAAT/enhancer binding protein epsilon ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814
JBrowse link
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
JBrowse link
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
JBrowse link
G Cideb cell death-inducing DFFA-like effector b ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,252,203...29,256,759
Ensembl chr15:29,252,213...29,256,605
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Dad1 defender against cell death 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,677,285...27,697,275
Ensembl chr15:27,677,268...27,697,347
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Eddm3b epididymal protein 3B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,343,835...24,346,774
Ensembl chr15:24,345,573...24,346,025
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,632,587...72,647,052
Ensembl chr 6:72,632,623...72,647,553
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Gzmb granzyme B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:30,343,361...30,346,792
Ensembl chr15:30,173,603...30,346,814
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Hectd1 HECT domain E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:69,181,429...69,267,803
Ensembl chr 6:69,181,436...69,268,053
JBrowse link
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
JBrowse link
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
JBrowse link
G Il25 interleukin 25 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,408,842...28,411,676
Ensembl chr15:28,408,842...28,411,893
JBrowse link
G Insm2 INSM transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,973,897...72,977,777 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:27,921,105...27,927,507
Ensembl chr15:27,920,259...27,927,505
JBrowse link
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
JBrowse link
G Ltb4r leukotriene B4 receptor ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,263,126...29,265,716 JBrowse link
G Ltb4r2 leukotriene B4 receptor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,258,427...29,260,340
Ensembl chr15:29,259,240...29,260,316
JBrowse link
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
JBrowse link
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
JBrowse link
G Mdp1 magnesium-dependent phosphatase 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,148,994...29,153,091
Ensembl chr15:29,148,994...29,151,905
JBrowse link
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
JBrowse link
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
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
G 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
JBrowse link
G Mipol1 mirror-image polydactyly 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:74,755,314...75,090,403
Ensembl chr 6:74,755,395...75,086,811
JBrowse link
G Mir208a microRNA 208a ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,425,570...28,425,652 JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G 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
JBrowse link
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
JBrowse link
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
OMIM
ClinVar
RGD
PMID:9536098 PMID:11854318 PMID:11854319 PMID:11971878 PMID:12891678 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
JBrowse link
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
JBrowse link
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
JBrowse link
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...63,905,950
Ensembl chr 6:63,783,489...63,906,289
JBrowse link
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
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Psmb11 proteasome subunit beta 11 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,081,148...28,087,326 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G RGD1307621 hypothetical LOC314168 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
JBrowse link
G RGD1565222 similar to RIKEN cDNA 4931414P19 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
JBrowse link
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
JBrowse link
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
JBrowse link
G Rnase1 ribonuclease A family member 1, pancreatic ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,361,924...24,363,658
Ensembl chr15:24,361,927...24,363,624
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Rpl10l1 ribosomal protein L10 like 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:84,544,771...84,545,863
Ensembl chr 6:84,543,540...84,545,816
JBrowse link
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
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:87,635,229...87,636,605
Ensembl chr 6:87,635,230...87,636,636
JBrowse link
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
JBrowse link
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
JBrowse link
G Sdr39u1 short chain dehydrogenase/reductase family 39U, member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,378,026...29,381,075
Ensembl chr15:29,378,026...29,381,560
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tm9sf1 transmembrane 9 superfamily member 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,127,585...29,135,349
Ensembl chr15:29,127,584...29,135,349
JBrowse link
G Tmem253 transmembrane protein 253 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,706,517...24,709,107
Ensembl chr15:24,706,529...24,708,625
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
JBrowse link
G Tppp2 tubulin polymerization-promoting protein family member 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,614,284...24,627,123
Ensembl chr15:24,614,006...24,618,967
JBrowse link
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024
JBrowse link
G Tssk4 testis-specific serine kinase 4 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:29,140,803...29,144,128
Ensembl chr15:29,141,792...29,144,128
JBrowse link
G Ttc6 tetratricopeptide repeat domain 6 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:28,533,155...28,565,667
Ensembl chr15:28,533,156...28,565,128
JBrowse link
G Zfp219 zinc finger protein 219 ISO ClinVar Annotator: match by term: Brain-lung-thyroid syndrome ClinVar PMID:25741868 NCBI chr15:24,695,831...24,710,039
Ensembl chr15:24,695,837...24,710,030
JBrowse link
bronchopulmonary dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator IEP RGD PMID:26431790 RGD:11537057 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bid BH3 interacting domain death agonist IEP RGD PMID:26431790 RGD:11537057 NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:26431790 RGD:11537057 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 IEP RGD PMID:26431790 RGD:11537057 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 IEP RGD PMID:26431790 RGD:11537057 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G 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
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 ISO RGD PMID:16888287 RGD:5130981 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Cd209c CD209c molecule ISO RGD PMID:20050784 RGD:5131185 NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040
JBrowse link
G Cd209d CD209d molecule ISO RGD PMID:20050784 RGD:5131185 NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO protein:decreased secretion:lung, secretion (human) RGD PMID:20558631 RGD:4892651 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 IEP RGD PMID:19951473 RGD:5134972 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Dag1 dystroglycan 1 ISO DNA:SNP: :p.N494H (human) RGD PMID:17196572 RGD:11537474 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:lung (rat) RGD PMID:20647310 RGD:4144841 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Epas1 endothelial PAS domain protein 1 treatment IEP RGD PMID:23065129 RGD:10395385 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:22003089 RGD:10402122 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:24120392 RGD:12792215 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (human) RGD PMID:14726935 RGD:4142520 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:24120392 RGD:12792215 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H19 H19 imprinted maternally expressed transcript ameliorates ISO RGD PMID:33285606 RGD:242905194 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP RGD PMID:23065129 PMID:26431790 RGD:10395385, RGD:11537057 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16813970 PMID:15539764 RGD:4143172 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO protein:increased expression:lung
associated with Premature Birth;DNA:polymorphism::
RGD PMID:15539764 PMID:22882323 RGD:4143172, RGD:12910846 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Bronchopulmonary dysplasia ClinVar PMID:25741868 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Premature Birth;DNA:polymorphism:exon: RGD PMID:22882323 RGD:12910846 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with Respiratory Distress Syndrome, Newborn; protein:increased expression:lung RGD PMID:18097062 RGD:4891007 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19097983 RGD:5129685 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO protein:increased expression:cord plasma RGD PMID:18025794 RGD:5131170 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Nfkbia NFKB inhibitor alpha exacerbates ISO DNA:SNPs:promoter: (rs2233406, rs2233409) (human) RGD PMID:23487427 RGD:40902982 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Postn periostin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22363622 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO RGD PMID:11435254 RGD:5144211 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Premature Birth;protein:increased expression:blood: RGD PMID:25140773 RGD:13208551 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO DNA:snps, haplotypes:multiple (human)
DNA:polymorphisms, haplotype: (human)
RGD PMID:17264398 PMID:11105614 RGD:4143384, RGD:4144876 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpb surfactant protein B susceptibility ISO DNA:deletion:intron (human)
DNA:SNPs:5'UTR,exon:
DNA:polymorphism:intron (human)
RGD PMID:15102713 PMID:26045806 PMID:17264398 PMID:12424586 RGD:4143405, RGD:11085373, RGD:4143384, RGD:4143418 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpd surfactant protein D ISO RGD PMID:17264398 RGD:4143384 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Tnf tumor necrosis factor severity
no_association
ISO DNA:SNP:promoter:-238A>G (human)
DNA:SNP:promoter:-308G>A (human)
RGD PMID:15286263 PMID:15286263 RGD:12904049, RGD:12904049 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tp53 tumor protein p53 IEP RGD PMID:26431790 RGD:11537057 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Txn1 thioredoxin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:20812253 NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
JBrowse link
G Vdr vitamin D receptor susceptibility ISO associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human) RGD PMID:24796371 RGD:13432055 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt2 keratin 2 ISO ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens OMIM
ClinVar
PMID:1380918 PMID:2004005 PMID:7521371 PMID:7524919 PMID:8077693 More... NCBI chr 7:132,941,275...132,947,963
Ensembl chr 7:132,940,862...132,947,963
JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl2 atlastin GTPase 2 ISO ClinVar Annotator: match by term: Congenital glaucoma ClinVar PMID:9097971 PMID:9497261 PMID:19234632 PMID:28492532 PMID:31251480 NCBI chr 6:15,139,071...15,180,421
Ensembl chr 6:15,139,044...15,180,421
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A | ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)
OMIM
ClinVar
RGD
PMID:2782041 PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 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
JBrowse link
G Foxc1 forkhead box C1 ISS OMIM:231300 MouseDO NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
Caffey disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4galt alpha 1,4-galactosyltransferase (P blood group) ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:mutation:exon:3040C>T (human)
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)
ClinVar
OMIM
RGD
PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More... RGD:5688296, RGD:11667069 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
JBrowse link
Carey-Fineman-Ziter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343
JBrowse link
Carey-Fineman-Ziter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar
PMID:35642635 NCBI chr 9:15,396,638...15,398,264
Ensembl chr 9:15,397,144...15,398,263
JBrowse link
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
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal ClinVar
OMIM
PMID:736528 PMID:835844 PMID:1528846 PMID:2647738 PMID:2762996 More... NCBI chr 5:122,664,677...122,682,126
Ensembl chr 5:122,664,677...122,682,095
JBrowse link
CD3epsilon deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
JBrowse link
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
JBrowse link
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 More... NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
JBrowse link
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
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ccdc153 coiled-coil domain containing 153 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
JBrowse link
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 More... NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
JBrowse link
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 More... NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
JBrowse link
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 More... NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
JBrowse link
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 More... NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
JBrowse link
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
JBrowse link
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 More... NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
JBrowse link
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 More... NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
JBrowse link
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 More... NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
JBrowse link
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
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:28492532 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
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
JBrowse link
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
JBrowse link
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 More... NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
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
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
JBrowse link
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 More... NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
JBrowse link
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 More... NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
JBrowse link
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 More... NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
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
JBrowse link
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
JBrowse link
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 More... NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
JBrowse link
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 More... NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 More... NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
JBrowse link
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
JBrowse link
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 More... NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
JBrowse link
G 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 More... NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
JBrowse link
G 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
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
JBrowse link
G 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 More... NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
JBrowse link
G 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
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: CD3epsilon deficiency ClinVar PMID:1635567 PMID:8490660 PMID:14602880 PMID:15546002 PMID:17277165 More... NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
JBrowse link
central conducting lymphatic anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT | ClinVar Annotator: match by term: Lymphatic malformation 7 OMIM
ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29905864 More... NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
JBrowse link
G Mdfic MyoD family inhibitor domain containing ISS OMIM:617300 MouseDO NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: Lymphatic malformation 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
JBrowse link
CHILD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142
JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO DNA:missense mutation:CDS:c.500T>C (p.L167P) (human)
ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
OMIM
ClinVar
RGD
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... RGD:243048422 NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Chitayat syndrome OMIM
ClinVar
PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
Congenital Hyperinsulinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:7716548 PMID:8751851 PMID:8923011 PMID:9041101 PMID:9536098 More... RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
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
JBrowse link
G 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
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar
RGD
PMID:10227563 PMID:10447526 PMID:10768098 PMID:10983627 PMID:12669197 More... RGD:12904701 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:deletion, insertion:exon
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD
ClinVar
RGD
PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: Familial hyperinsulinism ClinVar PMID:25741868 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
congenital nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23301081 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital nystagmus ClinVar PMID:25741868 PMID:28492532 NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
JBrowse link
G 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
JBrowse link
congenital nystagmus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Nystagmus 1, congenital, X-linked
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16020310 PMID:17013395 PMID:17768376 PMID:17962394 PMID:18087240 More... NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771
JBrowse link
congenital nystagmus 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked OMIM
ClinVar
PMID:15965158 PMID:17516023 PMID:18523664 PMID:18978956 PMID:19390656 More... NCBI chr  X:22,002,914...22,027,720
Ensembl chr  X:22,002,914...22,027,715
JBrowse link
Congenital Nystagmus 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO OMIM NCBI chr11:10,580,863...11,621,672
Ensembl chr11:10,580,908...11,620,203
JBrowse link
congenital toxoplasmosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: :HLA-DQA1*01:03, HLA-DQA1*03:02 (human) RGD PMID:26856406 RGD:126928144 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
coronin-1A deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 More... NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
JBrowse link
G Bola2 bolA family member 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:181,291,777...181,292,836
Ensembl chr 1:181,291,398...181,292,676
JBrowse link
G 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 More... NCBI chr 1:181,434,524...181,441,000 JBrowse link
G 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 More... NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836449 PMID:19097825 More... NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
JBrowse link
G 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 More... NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
JBrowse link
G 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 More... NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
JBrowse link
G 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 More... NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
JBrowse link
G 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 More... NCBI chr 1:181,622,708...181,624,996 JBrowse link
G 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 More... NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
JBrowse link
G 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 More... NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
JBrowse link
G 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
JBrowse link
G 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 More... NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
JBrowse link
G 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
JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
JBrowse link
G 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 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 PMID:23363396 More... NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: Immunodeficiency 8 ClinVar PMID:18836449 PMID:22515636 PMID:22623405 PMID:22726847 PMID:22744660 More... NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
JBrowse link
cystic fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:20203292 RGD:5129107 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ager advanced glycosylation end product-specific receptor severity ISO DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human) RGD PMID:21993476 PMID:24127697 RGD:6767553, RGD:8695959 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO mRNA,protein:decreased expression:intestine: RGD PMID:21970994 RGD:14349050 NCBI chr 9:87,804,749...87,807,866
Ensembl chr 9:87,804,749...87,807,913
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA, protein:increased expression:neutrophil RGD PMID:18026571 RGD:4145491 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G 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
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:20575639 PMID:19386685 RGD:5130907, RGD:5130902 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd14 CD14 molecule susceptibility ISO protein:increased expression:Macrophages, Alveolar
DNA:polymorphism:promoter:c. -159 C>T
RGD PMID:20302606 PMID:19466271 RGD:4144794, RGD:4144796 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:blood RGD PMID:15102009 RGD:7248443 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cftr CF transmembrane conductance regulator severity
no_association
disease_progression
ISO
IMP
DNA:missense mutation:exon:p.W1282X(human)
ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis
CTD Direct Evidence: marker/mechanism
DNA,protein:mutations,substitutions:exon:
DNA:mutation:exon:p.R117H(human)
DNA:nonsense mutation:cds;c. 2143delT (human)
DNA:mutation:cds:p.G551D (mouse)
DNA:insertion:exon:c.3904_3905insT (human)
DNA:mutations:multiple
DNA:mutation: :p.N1303K (human)
DNA:splice-site mutation:intron: 3272-26A>G (human)
DNA:mutations: :
DNA:deletion:exon:p.F508del(mouse)
DNA:missense mutations: :p.F508C, S1251N
DNA:missende mutation:exon:p.G551D (human)
protein:altered expression:lung
ClinVar
CTD
OMIM
RGD
PMID:754013 PMID:1282900 PMID:1283148 PMID:1283149 PMID:1283151