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ONTOLOGY REPORT - ANNOTATIONS


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
 primary_id: MESH:D007232;   RDO:0004815
For additional species annotation, visit the Alliance of Genome Resources.


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Infant, Newborn, Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp5 FKBP prolyl isomerase 5 JBrowse link NW_004955437 3,445,515 3,548,874 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link NW_004955445 12,696,096 12,717,488 RGD:9068941
RGD:7240710
G Brca1 BRCA1 DNA repair associated JBrowse link NW_004955451 16,819,463 16,870,780 RGD:9068941
G Jag1 jagged canonical Notch ligand 1 JBrowse link NW_004955415 20,490,414 20,526,068 RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004955524 3,399,895 3,412,018 RGD:9068941
asphyxia neonatorum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link NW_004955422 11,783,973 11,826,970 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link NW_004955459 3,210,936 3,238,401 RGD:9068941
G Htra2 HtrA serine peptidase 2 JBrowse link NW_004955424 11,255,756 11,259,170 RGD:9068941
G Map2 microtubule associated protein 2 JBrowse link NW_004955457 5,678,826 5,816,114 RGD:9068941
G Pdia3 protein disulfide isomerase family A member 3 JBrowse link NW_004955416 10,197,957 10,221,104 RGD:9068941
G Psen1 presenilin 1 JBrowse link NW_004955523 2,128,529 2,210,737 RGD:9068941
G Psen2 presenilin 2 JBrowse link NW_004955406 5,727,367 5,748,798 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004955406 25,077,988 25,086,259 RGD:9068941
G S100b S100 calcium binding protein B JBrowse link NW_004955407 42,972,584 42,980,510 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004955407 31,261,451 31,267,657 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004955439 21,209,101 21,223,538 RGD:9068941
G Xrcc1 X-ray repair cross complementing 1 JBrowse link NW_004955555 1,293,416 1,315,839 RGD:9068941
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein beta 2 JBrowse link NW_004955497 987,213 989,477 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link NW_004955457 885,941 1,062,713 RGD:9068941
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004955467 8,876,186 8,887,980 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
G Ebp EBP cholestenol delta-isomerase JBrowse link NW_004955543 92,553 98,370 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G LOC102004294 cytochrome P450 4F22 JBrowse link NW_004955495 7,730,881 7,763,684 RGD:9068941
G Nipal4 NIPA like domain containing 4 JBrowse link NW_004955408 11,635,724 11,648,359 RGD:9068941
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link NW_004955498 8,135,897 8,161,775 RGD:9068941
G Pnpla1 patatin like phospholipase domain containing 1 JBrowse link NW_004955437 4,008,814 4,047,895 RGD:9068941
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link NW_004955457 885,941 1,062,713 RGD:9068941
G Abhd5 abhydrolase domain containing 5 JBrowse link NW_004955420 27,484,500 27,508,360 RGD:9068941
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004955467 8,876,186 8,887,980 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link NW_004955559 1,942,878 1,968,895 RGD:9068941
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla1 patatin like phospholipase domain containing 1 JBrowse link NW_004955437 4,008,814 4,047,895 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link NW_004955412 31,091,313 31,129,050 RGD:9068941
RGD:7240710
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link NW_004955495 8,214,512 8,221,124 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdr9c7 short chain dehydrogenase/reductase family 9C member 7 JBrowse link NW_004955458 4,538,113 4,551,586 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link NW_004955559 1,942,878 1,968,895 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004955467 8,876,186 8,887,980 RGD:9068941
RGD:7240710
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link NW_004955559 1,942,878 1,968,895 RGD:9068941
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
RGD:7240710
G Gucy2d guanylate cyclase 2D, retinal JBrowse link NW_004955467 8,938,057 8,949,684 RGD:9068941
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link NW_004955457 885,941 1,062,713 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link NW_004955457 885,941 1,062,713 RGD:9068941
RGD:7240710
G Cst6 cystatin E/M JBrowse link NW_004955422 19,326,302 19,327,449 RGD:9068941
G Prss8 serine protease 8 JBrowse link NW_004955493 7,970,929 7,976,885 RGD:9068941
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102004294 cytochrome P450 4F22 JBrowse link NW_004955495 7,730,881 7,763,684 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA like domain containing 4 JBrowse link NW_004955408 11,635,724 11,648,359 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase family member N JBrowse link NW_004955425 4,187,537 4,205,066 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link NW_004955416 27,461,950 27,577,145 RGD:9068941
RGD:7240710
autosomal recessive distal spinal muscular atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighmbp2 immunoglobulin mu DNA binding protein 2 JBrowse link NW_004955422 17,017,855 17,047,724 RGD:9068941
RGD:7240710
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004955541 3,092,968 3,141,157 RGD:9068941
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnk2 tyrosine kinase non receptor 2 JBrowse link NW_004955420 12,302,463 12,337,976 RGD:9068941
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link NW_004955452 5,846,085 5,849,996 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004955476 10,058,979 10,074,668 RGD:9068941
G Pitx2 paired like homeodomain 2 JBrowse link NW_004955457 15,803,493 15,823,193 RGD:9068941
RGD:7240710
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prrt2 proline rich transmembrane protein 2 JBrowse link NW_004955493 7,144,389 7,148,613 RGD:9068941
RGD:7240710
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link NW_004955449 8,722,043 8,846,165 RGD:9068941
RGD:7240710
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link NW_004955547 2,086,215 2,201,300 RGD:9068941
RGD:7240710
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link NW_004955528 737,416 792,885 RGD:9068941
RGD:7240710
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link NW_004955528 737,416 792,885 RGD:9068941
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link NW_004955461 6,793,877 7,119,859 RGD:9068941
RGD:7240710
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link NW_004955528 737,416 792,885 RGD:9068941
benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 JBrowse link NW_004955521 4,365,075 4,396,105 RGD:9068941
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link NW_004955468 11,898,786 11,924,341 RGD:9068941
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link NW_004955528 737,416 792,885 RGD:9068941
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link NW_004955461 6,793,877 7,119,859 RGD:9068941
G Polg DNA polymerase gamma, catalytic subunit JBrowse link NW_004955416 15,773,005 15,788,736 RGD:9068941
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link NW_004955449 8,722,043 8,846,165 RGD:9068941
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link NW_004955449 8,896,454 9,009,304 RGD:9068941
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-1 NK2 homeobox 1 JBrowse link NW_004955409 24,612,490 24,616,360 RGD:9068941
RGD:7240710
G Ttf1 transcription termination factor 1 JBrowse link NW_004955513 1,804,690 1,829,705 RGD:9068941
Bronchopulmonary Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bax BCL2 associated X, apoptosis regulator JBrowse link NW_004955559 1,695,960 1,700,246 RGD:9068941
G Bid BH3 interacting domain death agonist JBrowse link NW_004955454 5,776,656 5,785,500 RGD:9068941
G Casp3 caspase 3 JBrowse link NW_004955403 24,315,712 24,326,271 RGD:9068941
G Casp8 caspase 8 JBrowse link NW_004955403 322,082 348,591 RGD:9068941
G Casp9 caspase 9 JBrowse link NW_004955527 2,613,691 2,630,217 RGD:9068941
G Cat catalase JBrowse link NW_004955422 11,783,973 11,826,970 RGD:9068941
G Chi3l1 chitinase 3 like 1 JBrowse link NW_004955406 39,195,101 39,201,808 RGD:9068941
G Dag1 dystroglycan 1 JBrowse link NW_004955532 1,446,553 1,465,310 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004955465 2,287,906 2,314,945 RGD:9068941
G Epas1 endothelial PAS domain protein 1 JBrowse link NW_004955441 13,244,626 13,328,220 RGD:9068941
G Flt1 fms related tyrosine kinase 1 JBrowse link NW_004955497 7,653,309 7,831,737 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004955422 17,914,228 17,916,918 RGD:9068941
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link NW_004955466 8,000,311 8,022,497 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004955455 8,367,566 8,368,460 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004955545 1,657,728 1,662,112 RGD:9068941
G Postn periostin JBrowse link NW_004955431 8,510,646 8,544,901 RGD:9068941
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link NW_004955599 688,414 690,644 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004955424 1,849,313 1,858,087 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004955510 213,468 226,096 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004955467 9,241,391 9,256,716 RGD:9068941
G Vdr vitamin D receptor JBrowse link NW_004955500 6,745,725 6,798,052 RGD:9068941
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
G Krt2 keratin 2 JBrowse link NW_004955547 3,027,767 3,035,244 RGD:9068941
RGD:7240710
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102009223 cytochrome P450 1B1 JBrowse link NW_004955441 5,803,397 5,812,131 RGD:9068941
RGD:7240710
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link NW_004955523 919,220 1,005,747 RGD:9068941
G Myoc myocilin JBrowse link NW_004955406 12,182,115 12,194,683 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004955414 4,244,035 4,314,001 RGD:9068941
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4galt alpha 1,4-galactosyltransferase (P blood group) JBrowse link NW_004955413 28,018,363 28,038,359 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link NW_004955513 2,835,466 2,842,325 RGD:9068941
RGD:7240710
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link NW_004955464 5,942,986 5,970,325 RGD:9068941
RGD:7240710
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link NW_004955498 8,135,897 8,161,775 RGD:9068941
RGD:7240710
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf ETS2 repressor factor JBrowse link NW_004955555 654,945 661,097 RGD:9068941
RGD:7240710
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag1 recombination activating 1 JBrowse link NW_004955422 9,891,878 9,928,569 RGD:9068941
RGD:7240710
G Rag2 recombination activating 2 JBrowse link NW_004955422 9,867,307 9,869,732 RGD:9068941
RGD:7240710
Congenital Hyperinsulinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
G Gck glucokinase JBrowse link NW_004955456 7,784,269 7,838,260 RGD:9068941
G Glud1 glutamate dehydrogenase 1 JBrowse link NW_004955510 5,987,811 6,021,001 RGD:9068941
G Hadh hydroxyacyl-CoA dehydrogenase JBrowse link NW_004955496 1,835,034 1,861,410 RGD:9068941
G Hnf4a hepatocyte nuclear factor 4 alpha JBrowse link NW_004955445 12,925,248 12,962,501 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
G Kcnt2 potassium sodium-activated channel subfamily T member 2 JBrowse link NW_004955406 33,080,570 33,441,342 RGD:9068941
G Tbc1d4 TBC1 domain family member 4 JBrowse link NW_004955404 31,516,727 31,691,414 RGD:9068941
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link NW_004955410 20,428,531 20,459,482 RGD:9068941
G Atf6 activating transcription factor 6 JBrowse link NW_004955462 14,352,956 14,553,299 RGD:9068941
G Frmd7 FERM domain containing 7 JBrowse link NW_004955473 2,798,736 2,817,770 RGD:9068941
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004955499 7,900,276 7,953,847 RGD:9068941
G Myo7a myosin VIIA JBrowse link NW_004955414 14,576,356 14,647,500 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004955476 10,058,979 10,074,668 RGD:9068941
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link NW_004955493 6,904,931 6,910,682 RGD:9068941
G Coro1a coronin 1A JBrowse link NW_004955493 6,815,148 6,820,295 RGD:9068941
RGD:7240710
G Dnm2 dynamin 2 JBrowse link NW_004955495 1,860,644 1,934,589 RGD:9068941
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link NW_004955493 6,876,943 6,883,716 RGD:9068941
G Mapk3 mitogen-activated protein kinase 3 JBrowse link NW_004955493 6,870,699 6,876,836 RGD:9068941
G Ppp4c protein phosphatase 4 catalytic subunit JBrowse link NW_004955493 6,894,849 6,901,344 RGD:9068941
G Rhoh ras homolog family member H JBrowse link NW_004955443 7,227,751 7,269,984 RGD:9068941
G Tbx6 T-box 6 JBrowse link NW_004955493 6,888,832 6,894,840 RGD:9068941
G Ypel3 yippee like 3 JBrowse link NW_004955493 6,885,050 6,888,729 RGD:9068941
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
G Krt10 keratin 10 JBrowse link NW_004955451 15,269,861 15,274,351 RGD:9068941
RGD:7240710
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link NW_004955431 19,025,663 19,027,026 RGD:9068941
G Adrb2 adrenoceptor beta 2 JBrowse link NW_004955415 5,515,157 5,517,198 RGD:9068941
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004955463 13,663,064 13,665,553 RGD:9068941
G Ager advanced glycosylation end-product specific receptor JBrowse link NW_004955437 645,482 648,607 RGD:9068941
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004955545 2,381,091 2,382,114 RGD:9068941
G Ccl17 C-C motif chemokine ligand 17 JBrowse link NW_004955433 15,052,616 15,054,732 RGD:9068941
G Ccr3 C-C motif chemokine receptor 3 JBrowse link NW_004955420 25,702,917 25,723,269 RGD:9068941
G Cd14 CD14 molecule JBrowse link NW_004955418 73,736 75,345 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004955489 8,465,571 8,477,714 RGD:9068941
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link NW_004955432 23,179,645 23,328,347 RGD:9068941
RGD:7240710
G Clca1 chloride channel accessory 1 JBrowse link NW_004955423 7,684,741 7,714,438 RGD:9068941
G Csf3r colony stimulating factor 3 receptor JBrowse link NW_004955452 14,409,484 14,425,818 RGD:9068941
G Cxcl8 C-X-C motif chemokine ligand 8 JBrowse link NW_004955474 247,326 250,355 RGD:9068941
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link NW_004955433 724,566 731,945 RGD:9068941
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link NW_004955475 11,148,928 11,152,313 RGD:9068941
G Dctn4 dynactin subunit 4 JBrowse link NW_004955415 3,850,475 3,886,953 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004955465 2,287,906 2,314,945 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004955425 3,961,671 3,987,513 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004955406 13,098,479 13,107,045 RGD:9068941
G Gclc glutamate-cysteine ligase catalytic subunit JBrowse link NW_004955411 2,593,523 2,617,553 RGD:9068941
G Gstm3 glutathione S-transferase mu 3 JBrowse link NW_004955435 13,253,947 13,256,965 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004955422 17,914,228 17,916,918 RGD:9068941
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link NW_004955408 11,289,920 11,311,216 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004955405 43,124,447 43,128,873 RGD:9068941
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link NW_004955403 3,062,724 3,073,419 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004955405 37,505,830 37,582,152 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004955456 6,795,560 6,802,147 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004955408 4,046,406 4,049,795 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004955411 5,896,435 5,899,911 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004955412 13,807,361 13,826,007 RGD:9068941
G Il18bp interleukin 18 binding protein JBrowse link NW_004955414 19,327,828 19,332,577 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004955470 1,527,710 1,538,418 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004955470 1,145,022 1,159,413 RGD:9068941
G Il6 interleukin 6 JBrowse link NW_004955410 25,079,835 25,084,390 RGD:9068941
G Il9 interleukin 9 JBrowse link NW_004955408 30,950,816 30,953,571 RGD:9068941
G Il9r interleukin 9 receptor JBrowse link NW_004955442 17,115,207 17,128,899 RGD:9068941
G Irf1 interferon regulatory factor 1 JBrowse link NW_004955408 3,882,282 3,887,965 RGD:9068941
G Lep leptin JBrowse link NW_004955479 9,266,604 9,276,568 RGD:9068941
G LOC102010850 cytochrome P450 1A1 JBrowse link NW_004955450 3,183,958 3,189,488 RGD:9068941
G Lta lymphotoxin alpha JBrowse link NW_004955437 114,216 116,003 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004955455 8,367,566 8,368,460 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004955445 11,295,500 11,303,322 RGD:9068941
G Mpo myeloperoxidase JBrowse link NW_004955451 4,743,744 4,753,358 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004955545 1,657,728 1,662,112 RGD:9068941
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,108,826 11,135,697 RGD:9068941
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,061,405 11,084,294 RGD:9068941
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,021,665 11,049,239 RGD:9068941
G Muc6 mucin 6, oligomeric mucus/gel-forming JBrowse link NW_004955476 11,165,423 11,184,674 RGD:9068941
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link NW_004955457 8,838,216 8,879,059 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004955455 13,797,557 13,978,402 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004955481 5,197,957 5,232,406 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004955491 5,438,228 5,457,308 RGD:9068941
G Ppara peroxisome proliferator activated receptor alpha JBrowse link NW_004955413 30,306,563 30,366,245 RGD:9068941
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link NW_004955511 5,536,602 5,539,944 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004955406 25,077,988 25,086,259 RGD:9068941
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link NW_004955413 4,000,083 4,023,596 RGD:9068941
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link NW_004955493 1,937,507 1,956,248 RGD:9068941
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link NW_004955493 1,787,693 1,813,085 RGD:9068941
G Serpina3 serpin family A member 3 JBrowse link NW_004955438 17,758,763 17,766,113 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004955424 1,849,313 1,858,087 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004955403 45,649,149 45,651,421 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004955510 213,468 226,096 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004955555 274,405 288,441 RGD:9068941
RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link NW_004955516 507,113 511,360 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004955419 10,190,937 10,201,896 RGD:9068941
G Tlr5 toll like receptor 5 JBrowse link NW_004955520 1,544,840 1,562,081 RGD:9068941
G Tlr9 toll like receptor 9 JBrowse link NW_004955532 3,828,645 3,832,699 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link NW_004955413 3,982,670 3,996,320 RGD:9068941
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a9 solute carrier family 26 member 9 JBrowse link NW_004955406 41,559,424 41,587,748 RGD:9068941
G Slc6a14 solute carrier family 6 member 14 JBrowse link NW_004955534 3,463,057 3,488,577 RGD:9068941
G Slc9a3 solute carrier family 9 member A3 JBrowse link NW_004955504 226,192 260,632 RGD:9068941
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo1 piezo type mechanosensitive ion channel component 1 JBrowse link NW_004955541 2,618,167 2,655,349 RGD:9068941
RGD:7240710
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link NW_004955507 5,724,788 5,791,281 RGD:9068941
RGD:7240710
G Abcc3 ATP binding cassette subfamily C member 3 JBrowse link NW_004955451 11,087,246 11,130,108 RGD:9068941
G Rdx radixin JBrowse link NW_004955412 12,100,436 12,184,444 RGD:9068941
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
G Gjb3 gap junction protein beta 3 JBrowse link NW_004955452 12,892,687 12,896,290 RGD:9068941
G Gjb4 gap junction protein beta 4 JBrowse link NW_004955452 12,871,548 12,874,019 RGD:9068941
G Jup junction plakoglobin JBrowse link NW_004955451 15,993,055 16,004,152 RGD:9068941
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
G Krt10 keratin 10 JBrowse link NW_004955451 15,269,861 15,274,351 RGD:9068941
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:7240710
RGD:9068941
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:7240710
RGD:9068941
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mvp major vault protein JBrowse link NW_004955493 7,113,194 7,141,944 RGD:9068941
G Prrt2 proline rich transmembrane protein 2 JBrowse link NW_004955493 7,144,389 7,148,613 RGD:9068941
RGD:7240710
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermap erythroblast membrane associated protein (Scianna blood group) JBrowse link NW_004955537 2,340,282 2,360,925 RGD:9068941
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link NW_004955437 9,850,279 9,862,412 RGD:9068941
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link NW_004955520 401,733 418,279 RGD:9068941
RGD:7240710
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein beta 2 JBrowse link NW_004955497 987,213 989,477 RGD:9068941
RGD:7240710
Hyaline Membrane Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004955403 45,649,149 45,651,421 RGD:9068941
hydrophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flt1 fms related tyrosine kinase 1 JBrowse link NW_004955497 7,653,309 7,831,737 RGD:9068941
G Kdr kinase insert domain receptor JBrowse link NW_004955447 15,810,816 15,851,702 RGD:9068941
G LOC102009223 cytochrome P450 1B1 JBrowse link NW_004955441 5,803,397 5,812,131 RGD:9068941
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link NW_004955402 43,551,810 43,819,731 RGD:9068941
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link NW_004955449 661,310 683,873 RGD:9068941
G Ctsa cathepsin A JBrowse link NW_004955445 11,399,151 11,405,069 RGD:9068941
G Dnah14 dynein axonemal heavy chain 14 JBrowse link NW_004955520 418,041 735,810 RGD:9068941
G Fcrl4 Fc receptor like 4 JBrowse link NW_004955468 9,478,180 9,503,127 RGD:9068941
G Fzd6 frizzled class receptor 6 JBrowse link NW_004955417 27,465,730 27,493,752 RGD:9068941
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link NW_004955469 12,650,191 12,865,779 RGD:9068941
G Gusb glucuronidase beta JBrowse link NW_004955456 8,377,161 8,392,298 RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004955524 3,399,895 3,412,018 RGD:9068941
G LOC102029359 chromosome unknown open reading frame, human C1orf105 JBrowse link NW_004955406 12,883,547 12,919,467 RGD:9068941
G Myom1 myomesin 1 JBrowse link NW_004955402 7,293,415 7,418,226 RGD:9068941
G Neb nebulin JBrowse link NW_004955440 17,060,303 17,259,558 RGD:9068941
G Pigc phosphatidylinositol glycan anchor biosynthesis class C JBrowse link NW_004955406 12,891,187 12,893,935 RGD:9068941
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link NW_004955431 5,472,209 5,495,937 RGD:9068941
G Ubn1 ubinuclein 1 JBrowse link NW_004955442 12,627,530 12,654,159 RGD:9068941
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ephb4 EPH receptor B4 JBrowse link NW_004955573 132,328 150,879 RGD:9068941
RGD:7240710
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link NW_004955420 26,342,129 26,446,959 RGD:9068941
RGD:7240710
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kl klotho JBrowse link NW_004955431 12,782,913 12,833,215 RGD:9068941
G LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial JBrowse link NW_004955445 4,874,583 4,891,723 RGD:9068941
RGD:7240710
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004955408 29,626,775 29,640,811 RGD:9068941
RGD:7240710
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium sensing receptor JBrowse link NW_004955427 21,486,608 21,574,017 RGD:9068941
RGD:7240710
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004955467 8,876,186 8,887,980 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004955467 8,844,805 8,869,230 RGD:9068941
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004955532 650,913 681,186 RGD:9068941
G Gjb2 gap junction protein beta 2 JBrowse link NW_004955497 987,213 989,477 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004955456 6,795,560 6,802,147 RGD:9068941
G Il2rb interleukin 2 receptor subunit beta JBrowse link NW_004955413 23,623,567 23,640,245 RGD:9068941
G Krt2 keratin 2 JBrowse link NW_004955547 3,027,767 3,035,244 RGD:9068941
G LOC102004294 cytochrome P450 4F22 JBrowse link NW_004955495 7,730,881 7,763,684 RGD:9068941
G Mdm2 MDM2 proto-oncogene JBrowse link NW_004955458 15,264,028 15,287,290 RGD:9068941
G Pnpla1 patatin like phospholipase domain containing 1 JBrowse link NW_004955437 4,008,814 4,047,895 RGD:9068941
G Spint1 serine peptidase inhibitor, Kunitz type 1 JBrowse link NW_004955416 7,715,536 7,728,759 RGD:9068941
G Supv3l1 Suv3 like RNA helicase JBrowse link NW_004955437 21,880,778 21,905,540 RGD:9068941
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt2 keratin 2 JBrowse link NW_004955547 3,027,767 3,035,244 RGD:9068941
Ichthyosis Follicularis Atrichia Photophobia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane bound transcription factor peptidase, site 2 JBrowse link NW_004955509 2,185,054 2,222,497 RGD:9068941
RGD:7240710
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
RGD:7240710
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc27a4 solute carrier family 27 member 4 JBrowse link NW_004955570 853,856 866,383 RGD:9068941
RGD:7240710
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link NW_004955520 401,733 418,279 RGD:9068941
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 ELOVL fatty acid elongase 4 JBrowse link NW_004955502 7,764,451 7,774,503 RGD:9068941
RGD:7240710
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link NW_004955482 6,731,949 6,746,095 RGD:9068941
RGD:7240710
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link NW_004955414 19,652,990 19,849,353 RGD:9068941
RGD:7240710
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta-chain (TCR) associated protein kinase 70kDa JBrowse link NW_004955470 4,379,260 4,397,851 RGD:9068941
RGD:7240710
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin like glycosyltransferase 3 JBrowse link NW_004955403 51,076,323 51,102,435 RGD:9068941
RGD:7240710
Infantile Hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC102013768 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial JBrowse link NW_004955445 4,874,583 4,891,723 RGD:9068941
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004955408 29,626,775 29,640,811 RGD:9068941
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link NW_004955466 9,120,227 9,122,109 RGD:9068941
RGD:7240710
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link NW_004955524 3,399,895 3,412,018 RGD:9068941
Kenny Caffey Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam111a family with sequence similarity 111 member A JBrowse link NW_004955511 3,722,483 3,736,001 RGD:9068941
RGD:7240710
G Tbce tubulin folding cofactor E JBrowse link NW_004955492 4,502,705 4,573,126 RGD:9068941
Kenny-Caffey Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link NW_004955492 4,502,705 4,573,126 RGD:9068941
RGD:7240710
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane bound transcription factor peptidase, site 2 JBrowse link NW_004955509 2,185,054 2,222,497 RGD:9068941
RGD:7240710
G Sat1 spermidine/spermine N1-acetyltransferase 1 JBrowse link NW_004955509 4,198,876 4,202,103 RGD:9068941
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link NW_004955500 6,860,771 6,885,466 RGD:9068941
RGD:7240710
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link NW_004955492 7,863,662 7,874,863 RGD:9068941
G Agtr2 angiotensin II receptor type 2 JBrowse link NW_004955534 3,653,112 3,654,248 RGD:9068941
G Atf2 activating transcription factor 2 JBrowse link NW_004955449 332,563 411,218 RGD:9068941
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link NW_004955599 688,414 690,644 RGD:9068941
Meconium Ileus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2c guanylate cyclase 2C JBrowse link NW_004955413 11,410,586 11,489,201 RGD:9068941
RGD:7240710
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tap1 transporter 1, ATP binding cassette subfamily B member JBrowse link NW_004955437 1,504,549 1,511,110 RGD:9068941
RGD:7240710
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link NW_004955437 1,480,217 1,499,032 RGD:9068941
RGD:7240710
G Tapbp TAP binding protein JBrowse link NW_004955437 1,860,057 1,865,645 RGD:9068941
RGD:7240710
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Borcs8 BLOC-1 related complex subunit 8 JBrowse link NW_004955524 2,641,907 2,646,275 RGD:9068941
G Ciita class II major histocompatibility complex transactivator JBrowse link NW_004955442 7,600,903 7,647,619 RGD:9068941
RGD:7240710
G Nr2c2ap nuclear receptor 2C2 associated protein JBrowse link NW_004955524 2,634,302 2,635,982 RGD:9068941
G Rfx5 regulatory factor X5 JBrowse link NW_004955588 687,086 695,696 RGD:9068941
RGD:7240710
G Rfxank regulatory factor X associated ankyrin containing protein JBrowse link NW_004955524 2,635,358 2,642,206 RGD:9068941
RGD:7240710
G Rfxap regulatory factor X associated protein JBrowse link NW_004955431 9,200,006 9,209,588 RGD:9068941
RGD:7240710
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 JBrowse link NW_004955412 31,295,436 31,336,781 RGD:9068941
G Amh anti-Mullerian hormone JBrowse link NW_004955495 5,893,375 5,896,152 RGD:9068941
G Bcdin3d BCDIN3 domain containing RNA methyltransferase JBrowse link NW_004955547 427,127 432,482 RGD:9068941
G Bsn bassoon presynaptic cytomatrix protein JBrowse link NW_004955532 1,527,336 1,578,394 RGD:9068941
G Cdh11 cadherin 11 JBrowse link NW_004955433 21,613,909 21,770,968 RGD:9068941
G Ebf3 EBF transcription factor 3 JBrowse link NW_004955477 7,435,324 7,557,212 RGD:9068941
G Fam71a family with sequence similarity 71 member A JBrowse link NW_004955406 4,870,655 4,872,941 RGD:9068941
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link NW_004955403 3,902,881 4,096,189 RGD:9068941
G Hspb7 heat shock protein family B (small) member 7 JBrowse link NW_004955527 2,219,462 2,222,824 RGD:9068941
G Kbtbd7 kelch repeat and BTB domain containing 7 JBrowse link NW_004955518 4,979,207 4,984,721 RGD:9068941
G Kdm6b lysine demethylase 6B JBrowse link NW_004955467 9,085,239 9,106,658 RGD:9068941
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link NW_004955442 16,831,641 16,835,133 RGD:9068941
G Plcb2 phospholipase C beta 2 JBrowse link NW_004955416 7,221,326 7,240,743 RGD:9068941
G Ptch2 patched 2 JBrowse link NW_004955464 13,387,844 13,403,991 RGD:9068941
G Sim1 SIM bHLH transcription factor 1 JBrowse link NW_004955411 26,173,009 26,256,545 RGD:9068941
G Znf787 zinc finger protein 787 JBrowse link NW_004955567 511,779 537,882 RGD:9068941
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link NW_004955451 17,381,323 17,392,122 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
neonatal anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptb spectrin beta, erythrocytic JBrowse link NW_004955466 5,013,963 5,170,186 RGD:9068941
neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
G Gck glucokinase JBrowse link NW_004955456 7,784,269 7,838,260 RGD:9068941
G Ins insulin JBrowse link NW_004955422 13,909,408 13,910,419 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link NW_004955497 7,281,886 7,307,969 RGD:9068941
G Th tyrosine hydroxylase JBrowse link NW_004955422 13,943,590 13,951,102 RGD:9068941
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glis3 GLIS family zinc finger 3 JBrowse link NW_004955434 8,140,965 8,581,889 RGD:9068941
RGD:7240710
Neonatal Hyperbilirubinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link NW_004955580 1,045,294 1,058,129 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004955405 43,124,447 43,128,873 RGD:9068941
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link NW_004955536 611,965 658,647 RGD:9068941
G Ncor1 nuclear receptor corepressor 1 JBrowse link NW_004955467 1,408,292 1,568,539 RGD:9068941
Neonatal Inflammatory Skin and Bowel Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link NW_004955487 5,180,241 5,218,298 RGD:9068941
Neonatal Inflammatory Skin and Bowel Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link NW_004955487 5,180,241 5,218,298 RGD:9068941
RGD:7240710
G Iah1 isoamyl acetate hydrolyzing esterase 1 (putative) JBrowse link NW_004955487 5,172,505 5,180,132 RGD:9068941
Neonatal Inflammatory Skin and Bowel Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egfr epidermal growth factor receptor JBrowse link NW_004955456 321,222 456,431 RGD:9068941
RGD:7240710
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link NW_004955580 1,045,294 1,058,129 RGD:9068941
G Nr1i2 nuclear receptor subfamily 1 group I member 2 JBrowse link NW_004955427 19,459,936 19,487,276 RGD:9068941
Neonatal Pulmonary Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link NW_004955457 4,848,116 4,961,384 RGD:9068941
RGD:7240710
Nesidioblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link NW_004955402 18,724,959 18,754,232 RGD:9068941
G Gba glucosylceramidase beta JBrowse link NW_004955545 1,682,097 1,689,373 RGD:9068941
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link NW_004955415 6,118,616 6,186,632 RGD:9068941
RGD:7240710
G St14 suppression of tumorigenicity 14 JBrowse link NW_004955412 31,091,313 31,129,050 RGD:9068941
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link NW_004955435 22,757,473 22,803,123 RGD:9068941
RGD:7240710
G Psat1 phosphoserine aminotransferase 1 JBrowse link NW_004955512 1,132,452 1,155,405 RGD:9068941
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd5 abhydrolase domain containing 5 JBrowse link NW_004955420 27,484,500 27,508,360 RGD:9068941
RGD:7240710
G Ano10 anoctamin 10 JBrowse link NW_004955420 27,572,561 27,682,099 RGD:9068941
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla2 patatin like phospholipase domain containing 2 JBrowse link NW_004955476 11,304,660 11,309,755 RGD:9068941
RGD:7240710
newborn respiratory distress syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link NW_004955422 11,783,973 11,826,970 RGD:9068941
G Epas1 endothelial PAS domain protein 1 JBrowse link NW_004955441 13,244,626 13,328,220 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004955405 43,124,447 43,128,873 RGD:9068941
G Icam1 intercellular adhesion molecule 1 JBrowse link NW_004955495 1,561,464 1,573,282 RGD:9068941
G Mbl2 mannose binding lectin 2 JBrowse link NW_004955425 7,704,371 7,708,951 RGD:9068941
G Megf10 multiple EGF like domains 10 JBrowse link NW_004955415 393,642 513,157 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004955455 8,367,566 8,368,460 RGD:9068941
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link NW_004955415 4,017,142 4,078,927 RGD:9068941
G Npsr1 neuropeptide S receptor 1 JBrowse link NW_004955560 1,069,651 1,243,111 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004955424 1,849,313 1,858,087 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004955403 45,649,149 45,651,421 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004955510 213,468 226,096 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004955407 31,261,451 31,267,657 RGD:9068941
G Tnnt2 troponin T2, cardiac type JBrowse link NW_004955406 37,491,462 37,507,360 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn1 claudin 1 JBrowse link NW_004955420 17,798,974 17,815,049 RGD:9068941
RGD:7240710
normophosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd9 sterile alpha motif domain containing 9 JBrowse link NW_004955432 9,957,521 9,972,622 RGD:9068941
RGD:7240710
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link NW_004955473 2,798,736 2,817,770 RGD:9068941
RGD:7240710
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004955499 7,900,276 7,953,847 RGD:9068941
RGD:7240710
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link NW_004955476 10,058,979 10,074,668 RGD:9068941
RGD:7240710
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link NW_004955429 19,461,446 19,501,908 RGD:9068941
RGD:7240710
G Rag1 recombination activating 1 JBrowse link NW_004955422 9,891,878 9,928,569 RGD:9068941
RGD:7240710
G Rag2 recombination activating 2 JBrowse link NW_004955422 9,867,307 9,869,732 RGD:9068941
RGD:7240710
Oxygen-Induced Retinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link NW_004955420 20,911,181 20,922,992 RGD:9068941
G Amigo2 adhesion molecule with Ig like domain 2 JBrowse link NW_004955500 6,134,736 6,138,075 RGD:9068941
G Csnk2a1 casein kinase 2 alpha 1 JBrowse link NW_004955597 326,601 397,112 RGD:9068941
G Csnk2a2 casein kinase 2 alpha 2 JBrowse link NW_004955433 15,677,788 15,718,894 RGD:9068941
G Csnk2b casein kinase 2 beta JBrowse link NW_004955437 210,541 215,725 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004955425 3,961,671 3,987,513 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004955406 13,098,479 13,107,045 RGD:9068941
G Ghrl ghrelin and obestatin prepropeptide JBrowse link NW_004955561 1,676,475 1,682,205 RGD:9068941
G Ghsr growth hormone secretagogue receptor JBrowse link NW_004955420 2,483,173 2,486,414 RGD:9068941
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link NW_004955466 8,000,311 8,022,497 RGD:9068941
G Hmgb1 high mobility group box 1 JBrowse link NW_004955431 15,373,207 15,377,339 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004955405 37,505,830 37,582,152 RGD:9068941
G Kdr kinase insert domain receptor JBrowse link NW_004955447 15,810,816 15,851,702 RGD:9068941
G Mapk8 mitogen-activated protein kinase 8 JBrowse link NW_004955556 1,593,552 1,705,543 RGD:9068941
G Ndp norrin cystine knot growth factor NDP JBrowse link NW_004955516 4,218,703 4,244,774 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004955429 14,814,690 14,936,869 RGD:9068941
G Ptafr platelet activating factor receptor JBrowse link NW_004955452 7,309,854 7,345,579 RGD:9068941
G Ptger3 prostaglandin E receptor 3 JBrowse link NW_004955423 21,096,926 21,164,435 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Serpinf1 serpin family F member 1 JBrowse link NW_004955481 1,414,930 1,426,436 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004955407 31,261,451 31,267,657 RGD:9068941
G Stat3 signal transducer and activator of transcription 3 JBrowse link NW_004955451 16,320,326 16,348,505 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah11 dynein axonemal heavy chain 11 JBrowse link NW_004955410 24,045,333 24,352,626 RGD:9068941
G Mbp myelin basic protein JBrowse link NW_004955402 60,324,060 60,448,926 RGD:9068941
G Mcoln1 mucolipin 1 JBrowse link NW_004955563 1,703,408 1,712,908 RGD:9068941
G Parp1 poly(ADP-ribose) polymerase 1 JBrowse link NW_004955489 520,875 557,609 RGD:9068941
G Rps6kc1 ribosomal protein S6 kinase C1 JBrowse link NW_004955406 4,382,931 4,542,926 RGD:9068941
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link NW_004955462 10,925,383 10,973,814 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004955437 117,267 119,899 RGD:9068941
permanent neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
RGD:7240710
G Gck glucokinase JBrowse link NW_004955456 7,784,269 7,838,260 RGD:9068941
RGD:7240710
G Ins insulin JBrowse link NW_004955422 13,909,408 13,910,419 RGD:9068941
RGD:7240710
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
RGD:7240710
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link NW_004955497 7,281,886 7,307,969 RGD:9068941
G Ptf1a pancreas associated transcription factor 1a JBrowse link NW_004955429 5,807,804 5,809,522 RGD:9068941
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas associated transcription factor 1a JBrowse link NW_004955429 5,807,804 5,809,522 RGD:9068941
RGD:7240710
Permanent Neonatal Diabetes Mellitus, with Neurologic Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
persistent fetal circulation syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link NW_004955457 4,848,116 4,961,384 RGD:9068941
G Foxf1 forkhead box F1 JBrowse link NW_004955541 1,341,715 1,345,397 RGD:9068941
RGD:7240710
G Nos3 nitric oxide synthase 3 JBrowse link NW_004955491 5,438,228 5,457,308 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004955425 5,007,811 5,091,829 RGD:9068941
G Stra6 stimulated by retinoic acid 6 JBrowse link NW_004955450 3,579,081 3,602,538 RGD:9068941
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004955555 2,355,005 2,369,599 RGD:9068941
RGD:7240710
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link NW_004955459 3,210,936 3,238,401 RGD:9068941
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link NW_004955439 4,226,530 4,234,390 RGD:9068941
G Mplkip M-phase specific PLK1 interacting protein JBrowse link NW_004955460 3,560,046 3,562,002 RGD:9068941
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link NW_004955500 6,860,771 6,885,466 RGD:9068941
RGD:7240710
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb3 integrin subunit beta 3 JBrowse link NW_004955478 9,788,192 9,830,254 RGD:9068941
RGD:7240710
Prenatal Cortical Hyperostosis, Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004955451 11,468,156 11,484,410 RGD:9068941
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link NW_004955454 3,136,097 3,142,525 RGD:9068941
RGD:7240710
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag2 recombination activating 2 JBrowse link NW_004955422 9,867,307 9,869,732 RGD:9068941
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link NW_004955452 11,254,853 11,275,587 RGD:9068941
RGD:7240710
Reticular Erythrokeratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004955458 25,193 29,282 RGD:9068941
G Krt10 keratin 10 JBrowse link NW_004955451 15,269,861 15,274,351 RGD:9068941
RGD:7240710
retinopathy of prematurity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004955463 13,663,064 13,665,553 RGD:9068941
G Agt angiotensinogen JBrowse link NW_004955492 7,863,662 7,874,863 RGD:9068941
G Angpt2 angiopoietin 2 JBrowse link NW_004955403 54,139,823 54,193,740 RGD:9068941
G Epo erythropoietin JBrowse link NW_004955573 203,875 206,078 RGD:9068941
G Epor erythropoietin receptor JBrowse link NW_004955495 2,293,587 2,299,302 RGD:9068941
G Flt1 fms related tyrosine kinase 1 JBrowse link NW_004955497 7,653,309 7,831,737 RGD:9068941
G Fzd4 frizzled class receptor 4 JBrowse link NW_004955414 6,094,585 6,103,910 RGD:9068941
G Hgf hepatocyte growth factor JBrowse link NW_004955410 4,114,280 4,181,953 RGD:9068941
G Icam1 intercellular adhesion molecule 1 JBrowse link NW_004955495 1,561,464 1,573,282 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004955405 37,505,830 37,582,152 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004955456 6,795,560 6,802,147 RGD:9068941
G Ihh Indian hedgehog signaling molecule JBrowse link NW_004955453 14,376,665 14,382,536 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004955406 42,307,789 42,312,255 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004955470 1,486,936 1,491,888 RGD:9068941
G Kdr kinase insert domain receptor JBrowse link NW_004955447 15,810,816 15,851,702 RGD:9068941
G Ndp norrin cystine knot growth factor NDP JBrowse link NW_004955516 4,218,703 4,244,774 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004955455 13,797,557 13,978,402 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004955481 5,197,957 5,232,406 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004955491 5,438,228 5,457,308 RGD:9068941
G Prss23 serine protease 23 JBrowse link NW_004955414 6,202,383 6,213,521 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004955456 16,147,523 16,157,040 RGD:9068941
G Serpinf1 serpin family F member 1 JBrowse link NW_004955481 1,414,930 1,426,436 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004955407 31,261,451 31,267,657 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004955437 9,527,445 9,541,908 RGD:9068941
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link NW_004955454 3,136,097 3,142,525 RGD:9068941
RGD:7240710
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link NW_004955445 12,696,096 12,717,488 RGD:9068941
G Ak2 adenylate kinase 2 JBrowse link NW_004955452 11,254,853 11,275,587 RGD:9068941
G Cd247 CD247 molecule JBrowse link NW_004955462 9,466,706 9,539,897 RGD:9068941
G Cd3d CD3d molecule JBrowse link NW_004955412 19,481,059 19,484,890 RGD:9068941
G Cd3e CD3e molecule JBrowse link NW_004955412 19,464,666 19,476,425 RGD:9068941
G Cd3g CD3g molecule JBrowse link NW_004955412 19,486,066 19,496,474 RGD:9068941
G CUNH11orf74 chromosome unknown C11orf74 homolog JBrowse link NW_004955422 9,804,012 9,867,580 RGD:9068941
G Dclre1c DNA cross-link repair 1C JBrowse link NW_004955429 19,461,446 19,501,908 RGD:9068941
G Epo erythropoietin JBrowse link NW_004955573 203,875 206,078 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004955428 18,163,010 18,168,157 RGD:9068941
G Il2rg interleukin 2 receptor subunit gamma JBrowse link NW_004955475 10,676,592 10,680,565 RGD:9068941
G Il7r interleukin 7 receptor JBrowse link NW_004955426 20,785,896 20,818,512 RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004955524 3,399,895 3,412,018 RGD:9068941
G Myoc myocilin JBrowse link NW_004955406 12,182,115 12,194,683 RGD:9068941
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link NW_004955454 7,733,697 7,890,896 RGD:9068941
G Ptprc protein tyrosine phosphatase receptor type C JBrowse link NW_004955406 35,005,577 35,127,395 RGD:9068941
G Rac2 Rac family small GTPase 2 JBrowse link NW_004955413 23,697,504 23,710,668 RGD:9068941
G Rag1 recombination activating 1 JBrowse link NW_004955422 9,891,878 9,928,569 RGD:9068941
G Rag2 recombination activating 2 JBrowse link NW_004955422 9,867,307 9,869,732 RGD:9068941
G Rfx5 regulatory factor X5 JBrowse link NW_004955588 687,086 695,696 RGD:9068941
G Rfxank regulatory factor X associated ankyrin containing protein JBrowse link NW_004955524 2,635,358 2,642,206 RGD:9068941
G Tapbp TAP binding protein JBrowse link NW_004955437 1,860,057 1,865,645 RGD:9068941
G Tfrc transferrin receptor JBrowse link NW_004955420 12,348,392 12,372,714 RGD:9068941
G Zap70 zeta-chain (TCR) associated protein kinase 70kDa JBrowse link NW_004955470 4,379,260 4,397,851 RGD:9068941
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhej1 non-homologous end joining factor 1 JBrowse link NW_004955453 14,278,773 14,362,167 RGD:9068941
RGD:7240710
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link NW_004955429 19,461,446 19,501,908 RGD:9068941
RGD:7240710
G Lig4 DNA ligase 4 JBrowse link NW_004955404 3,606,077 3,615,193 RGD:9068941
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta-chain (TCR) associated protein kinase 70kDa JBrowse link NW_004955470 4,379,260 4,397,851 RGD:9068941
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link NW_004955524 3,399,895 3,412,018 RGD:9068941
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link NW_004955454 7,733,697 7,890,896 RGD:9068941
G Rag1 recombination activating 1 JBrowse link NW_004955422 9,891,878 9,928,569 RGD:9068941
RGD:7240710
G Rag2 recombination activating 2 JBrowse link NW_004955422 9,867,307 9,869,732 RGD:9068941
RGD:7240710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link NW_004955524 3,399,895 3,412,018 RGD:9068941
RGD:7240710
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd3d CD3d molecule JBrowse link NW_004955412 19,481,059 19,484,890 RGD:9068941
G Cd3e CD3e molecule JBrowse link NW_004955412 19,464,666 19,476,425 RGD:9068941
G Coro1a coronin 1A JBrowse link NW_004955493 6,815,148 6,820,295 RGD:9068941
G Il7r interleukin 7 receptor JBrowse link NW_004955426 20,785,896 20,818,512 RGD:9068941
RGD:7240710
G Jak3 Janus kinase 3 JBrowse link NW_004955524 3,399,895 3,412,018 RGD:9068941
G Ptprc protein tyrosine phosphatase receptor type C JBrowse link NW_004955406 35,005,577 35,127,395 RGD:9068941
RGD:7240710
Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 JBrowse link NW_004955467 141,592 162,376 RGD:9068941
RGD:7240710
Smith-Kingsmore Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtor mechanistic target of rapamycin kinase JBrowse link NW_004955486 2,487,642 2,599,694 RGD:9068941
RGD:7240710
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kidins220 kinase D interacting substrate 220 JBrowse link NW_004955487 782,683 862,079 RGD:9068941
RGD:7240710
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link NW_004955414 19,652,990 19,849,353 RGD:9068941
RGD:7240710
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxn1 forkhead box N1 JBrowse link NW_004955481 4,611,246 4,640,606 RGD:9068941
RGD:7240710
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mst1 macrophage stimulating 1 JBrowse link NW_004955532 1,590,685 1,595,655 RGD:9068941
G Stk4 serine/threonine kinase 4 JBrowse link NW_004955445 12,308,285 12,399,012 RGD:9068941
RGD:7240710
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link NW_004955452 2,056,428 2,141,937 RGD:9068941
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
RGD:7240710
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004955514 1,030,244 1,038,590 RGD:9068941
RGD:7240710
transient neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
G Gck glucokinase JBrowse link NW_004955456 7,784,269 7,838,260 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
G Zfp57 ZFP57 zinc finger protein JBrowse link NW_004955583 151,338 154,827 RGD:9068941
Transient Neonatal Diabetes Mellitus, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plagl1 PLAG1 like zinc finger 1 JBrowse link NW_004955436 16,452,797 16,511,872 RGD:9068941
G Zfp57 ZFP57 zinc finger protein JBrowse link NW_004955583 151,338 154,827 RGD:9068941
RGD:7240710
Transient Neonatal Diabetes Mellitus, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004955414 32,216,243 32,289,028 RGD:9068941
RGD:7240710
Transient Neonatal Diabetes Mellitus, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004955414 32,209,426 32,212,424 RGD:9068941
RGD:7240710
twin-to-twin transfusion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link NW_004955447 9,327 21,212 RGD:9068941
umbilical hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link NW_004955416 30,687,518 30,798,700 RGD:9068941
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link NW_004955463 14,013,247 14,064,354 RGD:9068941
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link NW_004955551 2,321,190 2,427,000 RGD:9068941
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link NW_004955512 2,914,834 3,333,440 RGD:9068941
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link NW_004955486 1,967,771 1,990,561 RGD:9068941
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004955545 2,381,091 2,382,114 RGD:9068941
G Ggcx gamma-glutamyl carboxylase JBrowse link NW_004955424 1,926,924 1,952,635 RGD:9068941
Wolman disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipa lipase A, lysosomal acid type JBrowse link NW_004955425 3,718,291 3,755,942 RGD:9068941
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link NW_004955422 17,394,371 17,475,244 RGD:9068941
RGD:7240710
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link NW_004955499 5,875,706 5,925,809 RGD:9068941
G Pudp pseudouridine 5'-phosphatase JBrowse link NW_004955499 5,110,297 5,181,487 RGD:9068941
G Sts steroid sulfatase JBrowse link NW_004955499 5,180,451 5,347,862 RGD:9068941
RGD:7240710
X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il2rg interleukin 2 receptor subunit gamma JBrowse link NW_004955475 10,676,592 10,680,565 RGD:9068941
RGD:7240710
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigl phosphatidylinositol glycan anchor biosynthesis class L JBrowse link NW_004955467 1,566,494 1,645,158 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10457
    Developmental Diseases 6790
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 5968
        Infant, Newborn, Diseases 362
          Amniotic Band Syndrome + 0
          Birth Injuries + 0
          Caffey disease + 6
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
          Colic 0
          Congenital Hyperinsulinism + 8
          Cutis Laxa-Marfanoid Syndrome 0
          Hyperglycinemia, Transient Neonatal 0
          Hyperparathyroidism, Neonatal Severe Primary 1
          Infantile Hypercalcemia + 3
          Meconium Ileus 1
          Mobius syndrome + 17
          Neonatal Alloimmune Thrombocytopenia 2
          Neonatal Hyperbilirubinemia + 8
          Neonatal Hypoglycemia, Simulating Foetopathia Diabetica 0
          Neonatal Inflammatory Skin and Bowel Disease + 3
          Neonatal Pulmonary Hypertension 1
          Neonatal Sepsis 0
          Posttransfusion Purpura 1
          Premature Infant Diseases + 82
          Rothmund-Thomson syndrome + 1
          Sclerema Neonatorum 0
          Wolman disease + 1
          asphyxia neonatorum + 14
          benign neonatal seizures + 11
          congenital nystagmus + 8
          congenital syphilis + 0
          congenital toxoplasmosis 0
          cystic fibrosis + 74
          fetal erythroblastosis + 22
          hydrophthalmos + 6
          ichthyosis + 54
          meconium aspiration syndrome 4
          neonatal abstinence syndrome 0
          neonatal anemia + 2
          neonatal diabetes mellitus + 10
          ophthalmia neonatorum 0
          persistent fetal circulation syndrome 5
          severe combined immunodeficiency + 49
          thanatophoric dysplasia + 3
          transient neonatal thrombocytopenia 0
          umbilical hernia + 10
          vitamin K deficiency bleeding 2
paths to the root