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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_004936476 23,611,166 23,702,283 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004936661 3,742,080 3,758,266 RGD:9068941
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1 DNA repair associated JBrowse link NW_004936490 17,735,444 17,801,456 RGD:9068941
G Jag1 jagged canonical Notch ligand 1 JBrowse link NW_004936485 8,857,688 8,894,270 RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004936596 3,212,593 3,224,426 RGD:9068941
asphyxia neonatorum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link NW_004936533 3,601,270 3,637,128 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004936490 11,448,552 11,465,836 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004936706 1,816,561 1,829,638 RGD:9068941
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link NW_004936469 43,970,002 43,998,279 RGD:9068941
G Htra2 HtrA serine peptidase 2 JBrowse link NW_004936556 741,718 746,016 RGD:9068941
G Map2 microtubule associated protein 2 JBrowse link NW_004936845 475,406 752,600 RGD:9068941
G Pdia3 protein disulfide isomerase family A member 3 JBrowse link NW_004936471 6,809,181 6,834,189 RGD:9068941
G Psen1 presenilin 1 JBrowse link NW_004936488 2,464,623 2,528,807 RGD:9068941
G Psen2 presenilin 2 JBrowse link NW_004936526 3,584,194 3,611,719 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004936481 3,821,564 3,828,086 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004936500 10,345,154 10,352,873 RGD:9068941
G Sod2 superoxide dismutase 2 JBrowse link NW_004936489 11,178,338 11,191,601 RGD:9068941
G Xrcc1 X-ray repair cross complementing 1 JBrowse link NW_004936706 752,571 783,746 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_004936720 1,528,205 1,530,296 RGD:7240710
RGD:9068941
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_004936586 1,938,617 2,094,231 RGD:9068941
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004936595 1,310,556 1,321,974 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004936595 1,329,492 1,350,914 RGD:9068941
G Ebp EBP cholestenol delta-isomerase JBrowse link NW_004936721 508,716 515,968 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004936706 1,816,561 1,829,638 RGD:9068941
G LOC101977389 cytochrome P450 4F22 JBrowse link NW_004936596 4,987,577 5,006,459 RGD:9068941
G Nipal4 NIPA like domain containing 4 JBrowse link NW_004936515 5,687,364 5,699,153 RGD:9068941
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link NW_004936714 246,574 273,930 RGD:9068941
G Pnpla1 patatin like phospholipase domain containing 1 JBrowse link NW_004936476 23,066,840 23,100,126 RGD:9068941
G Tgm1 transglutaminase 1 JBrowse link NW_004936722 292,999 306,540 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_004936586 1,938,617 2,094,231 RGD:9068941
G Abhd5 abhydrolase domain containing 5 JBrowse link NW_004936695 1,644,758 1,672,024 RGD:9068941
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004936595 1,310,556 1,321,974 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004936595 1,329,492 1,350,914 RGD:9068941
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link NW_004936664 2,626,810 2,655,290 RGD:9068941
G Tgm1 transglutaminase 1 JBrowse link NW_004936722 292,999 306,540 RGD:7240710
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_004936476 23,066,840 23,100,126 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link NW_004936572 2,137,820 2,182,674 RGD:7240710
RGD:9068941
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link NW_004936596 5,396,866 5,399,255 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_004936646 1,170,855 1,190,797 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_004936664 2,626,810 2,655,290 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_004936595 1,310,556 1,321,974 RGD:7240710
RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004936595 1,329,492 1,350,914 RGD:9068941
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link NW_004936664 2,626,810 2,655,290 RGD:9068941
G Tgm1 transglutaminase 1 JBrowse link NW_004936722 292,999 306,540 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_004936595 1,329,492 1,350,914 RGD:7240710
RGD:9068941
G Gucy2d guanylate cyclase 2D, retinal JBrowse link NW_004936595 1,235,747 1,250,294 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_004936586 1,938,617 2,094,231 RGD:7240710
RGD:9068941
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_004936586 1,938,617 2,094,231 RGD:7240710
RGD:9068941
G Cst6 cystatin E/M JBrowse link NW_004936599 3,541,359 3,543,206 RGD:9068941
G Prss8 serine protease 8 JBrowse link NW_004936501 13,487,863 13,491,837 RGD:9068941
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101977389 cytochrome P450 4F22 JBrowse link NW_004936596 4,987,577 5,006,459 RGD:7240710
RGD:9068941
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_004936515 5,687,364 5,699,153 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase family member N JBrowse link NW_004936735 445,985 464,340 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link NW_004936483 3,276,519 3,365,054 RGD:7240710
RGD:9068941
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_004936599 1,406,815 1,439,764 RGD:7240710
RGD:9068941
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link NW_004936641 451,762 484,229 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_004936784 636,105 685,080 RGD:9068941
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link NW_004936533 5,952,529 5,980,889 RGD:9068941
G Pitx2 paired like homeodomain 2 JBrowse link NW_004936563 1,713,294 1,732,431 RGD:7240710
RGD:9068941
G Prdm5 PR/SET domain 5 JBrowse link NW_004936662 388,279 524,803 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_004936501 12,660,181 12,663,788 RGD:7240710
RGD:9068941
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_004936469 13,872,701 14,019,170 RGD:7240710
RGD:9068941
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_004936512 9,164,310 9,281,795 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_004936514 10,735,247 10,787,682 RGD:7240710
RGD:9068941
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_004936514 10,735,247 10,787,682 RGD:9068941
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link NW_004936470 16,712,508 17,009,648 RGD:7240710
RGD:9068941
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_004936514 10,735,247 10,787,682 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_004936575 6,467,224 6,506,052 RGD:9068941
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link NW_004936514 10,735,247 10,787,682 RGD:9068941
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link NW_004936470 16,712,508 17,009,648 RGD:9068941
G LOC101966570 sodium/potassium-transporting ATPase subunit alpha-2 JBrowse link NW_004936740 489,357 514,235 RGD:9068941
G Polg DNA polymerase gamma, catalytic subunit JBrowse link NW_004936483 15,178,947 15,196,277 RGD:9068941
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link NW_004936469 13,872,701 14,019,170 RGD:9068941
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link NW_004936469 14,072,182 14,180,552 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_004936494 10,517,488 10,520,567 RGD:7240710
RGD:9068941
G Ttf1 transcription termination factor 1 JBrowse link NW_004936487 18,956,364 18,983,850 RGD:9068941
Bronchopulmonary Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bax BCL2 associated X, apoptosis regulator JBrowse link NW_004936664 2,968,103 2,973,652 RGD:9068941
G Bid BH3 interacting domain death agonist JBrowse link NW_004936807 708,340 750,127 RGD:9068941
G Casp3 caspase 3 JBrowse link NW_004936554 4,571,072 4,593,765 RGD:9068941
G Casp8 caspase 8 JBrowse link NW_004936726 554,627 596,334 RGD:9068941
G Casp9 caspase 9 JBrowse link NW_004936474 3,178,097 3,196,130 RGD:9068941
G Cat catalase JBrowse link NW_004936533 3,601,270 3,637,128 RGD:9068941
G Chi3l1 chitinase 3 like 1 JBrowse link NW_004936567 1,411,080 1,418,332 RGD:9068941
G Dag1 dystroglycan 1 JBrowse link NW_004936529 1,099,510 1,171,587 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004936534 885,489 892,292 RGD:9068941
G Epas1 endothelial PAS domain protein 1 JBrowse link NW_004936508 5,855,748 5,938,879 RGD:9068941
G Flt1 fms related tyrosine kinase 1 JBrowse link NW_004936472 23,442,946 23,617,523 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004936599 2,197,681 2,200,642 RGD:9068941
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link NW_004936495 5,770,988 5,816,157 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004936783 1,251,678 1,256,807 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004936783 1,447,158 1,466,331 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004936619 1,207,058 1,208,010 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004936514 7,038,240 7,045,873 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004936580 4,691,870 4,694,092 RGD:9068941
G Postn periostin JBrowse link NW_004936472 31,644,778 31,677,572 RGD:9068941
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link NW_004936581 798,738 801,614 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004936543 1,032,543 1,040,956 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004936712 1,614,979 1,621,207 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004936716 60,754 73,010 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004936727 1,936,066 1,937,766 RGD:9068941
G Tp53 tumor protein p53 JBrowse link NW_004936595 919,807 935,367 RGD:9068941
G Txn thioredoxin JBrowse link NW_004936559 2,811,786 2,822,528 RGD:9068941
G Vdr vitamin D receptor JBrowse link NW_004936512 5,741,836 5,800,999 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_004936529 348,938 381,701 RGD:9068941
G Krt2 keratin 2 JBrowse link NW_004936512 10,054,708 10,061,021 RGD:7240710
RGD:9068941
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101970101 cytochrome P450 1B1 JBrowse link NW_004936663 345,021 355,188 RGD:7240710
RGD:9068941
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link NW_004936488 3,682,044 3,790,988 RGD:9068941
G Myoc myocilin JBrowse link NW_004936481 15,544,733 15,556,813 RGD:9068941
G Tyr tyrosinase JBrowse link NW_004936736 421,623 519,085 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_004936718 594,462 630,926 RGD:9068941
G Col1a1 collagen type I alpha 1 chain JBrowse link NW_004936490 11,448,552 11,465,836 RGD:7240710
RGD:9068941
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link NW_004936669 3,404,729 3,413,123 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_004936522 7,858,172 7,875,679 RGD:7240710
RGD:9068941
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link NW_004936714 246,574 273,930 RGD:7240710
RGD:9068941
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf ETS2 repressor factor JBrowse link NW_004936706 255,479 263,154 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_004936533 1,817,135 1,827,393 RGD:7240710
RGD:9068941
G Rag2 recombination activating 2 JBrowse link NW_004936533 1,801,207 1,807,431 RGD:7240710
RGD:9068941
Congenital Hyperinsulinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004936528 1,608,782 1,682,873 RGD:9068941
G Gck glucokinase JBrowse link NW_004936478 19,104,477 19,118,915 RGD:9068941
G Glud1 glutamate dehydrogenase 1 JBrowse link NW_004936601 5,415,857 5,435,964 RGD:9068941
G Hadh hydroxyacyl-CoA dehydrogenase JBrowse link NW_004936818 575,272 623,496 RGD:9068941
G Hnf4a hepatocyte nuclear factor 4 alpha JBrowse link NW_004936530 2,401,053 2,425,989 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004936528 1,685,015 1,688,220 RGD:9068941
G Kcnt2 potassium sodium-activated channel subfamily T member 2 JBrowse link NW_004936638 3,789,339 4,154,356 RGD:9068941
G Tbc1d4 TBC1 domain family member 4 JBrowse link NW_004936511 5,789,683 5,858,930 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_004936706 1,816,561 1,829,638 RGD:9068941
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link NW_004936546 3,737,908 3,783,492 RGD:9068941
G Atf6 activating transcription factor 6 JBrowse link NW_004936831 7,854 146,320 RGD:9068941
G Frmd7 FERM domain containing 7 JBrowse link NW_004936691 2,664,968 2,756,300 RGD:9068941
G Gpr143 G protein-coupled receptor 143 JBrowse link NW_004936644 196,344 236,659 RGD:9068941
G Myo7a myosin VIIA JBrowse link NW_004936498 5,758,572 5,824,526 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004936533 5,952,529 5,980,889 RGD:9068941
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link NW_004936501 12,418,090 12,423,959 RGD:9068941
G Coro1a coronin 1A JBrowse link NW_004936501 12,338,542 12,344,236 RGD:7240710
RGD:9068941
G Dnm2 dynamin 2 JBrowse link NW_004936659 957,408 1,046,393 RGD:9068941
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link NW_004936501 12,391,204 12,397,877 RGD:9068941
G Mapk3 mitogen-activated protein kinase 3 JBrowse link NW_004936501 12,342,670 12,390,650 RGD:9068941
G Ppp4c protein phosphatase 4 catalytic subunit JBrowse link NW_004936501 12,407,968 12,416,057 RGD:9068941
G Rhoh ras homolog family member H JBrowse link NW_004936482 7,721,815 7,723,395 RGD:9068941
G Tbx6 T-box 6 JBrowse link NW_004936501 12,402,709 12,407,571 RGD:9068941
G Ypel3 yippee like 3 JBrowse link NW_004936501 12,399,323 12,402,349 RGD:9068941
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004936512 10,084,764 10,090,312 RGD:7240710
RGD:9068941
G Krt10 keratin 10 JBrowse link NW_004936490 15,783,636 15,788,605 RGD:7240710
RGD:9068941
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link NW_004936486 4,400,467 4,401,588 RGD:9068941
G Adrb2 adrenoceptor beta 2 JBrowse link NW_004936504 5,985,407 5,987,453 RGD:9068941
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004936710 1,410,589 1,413,279 RGD:9068941
G Ager advanced glycosylation end-product specific receptor JBrowse link NW_004936727 1,418,342 1,422,005 RGD:9068941
G Bglap bone gamma-carboxyglutamate protein JBrowse link NW_004936580 5,480,023 5,482,288 RGD:9068941
G Ccl11 C-C motif chemokine ligand 11 JBrowse link NW_004936538 835,436 848,907 RGD:9068941
G Ccl17 C-C motif chemokine ligand 17 JBrowse link NW_004936475 9,475,013 9,476,326 RGD:9068941
G Ccr3 C-C motif chemokine receptor 3 JBrowse link NW_004936596 223,660 224,739 RGD:9068941
G Cd14 CD14 molecule JBrowse link NW_004936531 9,572,392 9,575,771 RGD:9068941
G Cd40lg CD40 ligand JBrowse link NW_004936513 10,607,617 10,620,403 RGD:9068941
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link NW_004936589 1,565,933 1,719,208 RGD:7240710
RGD:9068941
G Csf3r colony stimulating factor 3 receptor JBrowse link NW_004936474 18,877,036 18,887,574 RGD:9068941
G Cxcl8 C-X-C motif chemokine ligand 8 JBrowse link NW_004936598 1,779,471 1,781,353 RGD:9068941
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link NW_004936676 33,580 40,323 RGD:9068941
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link NW_004936762 66,636 69,694 RGD:9068941
G Dctn4 dynactin subunit 4 JBrowse link NW_004936504 4,252,442 4,285,151 RGD:9068941
G Edn1 endothelin 1 JBrowse link NW_004936534 885,489 892,292 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004936735 209,369 234,582 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004936481 14,789,547 14,795,780 RGD:9068941
G Gclc glutamate-cysteine ligase catalytic subunit JBrowse link NW_004936476 7,371,270 7,418,756 RGD:9068941
G Gstm3 glutathione S-transferase mu 3 JBrowse link NW_004936704 1,233,909 1,236,864 RGD:9068941
G Gstp1 glutathione S-transferase pi 1 JBrowse link NW_004936599 2,197,681 2,200,642 RGD:9068941
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link NW_004936515 6,001,324 6,015,407 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004936492 5,042,353 5,049,216 RGD:9068941
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link NW_004936727 1,732,323 1,735,128 RGD:9068941
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link NW_004936506 1,678,069 1,687,632 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004936478 20,511,490 20,518,251 RGD:9068941
G Il13 interleukin 13 JBrowse link NW_004936647 2,529,933 2,532,503 RGD:9068941
G Il17a interleukin 17A JBrowse link NW_004936476 8,621,860 8,625,008 RGD:9068941
G Il18 interleukin 18 JBrowse link NW_004936612 2,306,963 2,325,086 RGD:9068941
G Il18bp interleukin 18 binding protein JBrowse link NW_004936498 1,353,569 1,358,312 RGD:9068941
G Il1a interleukin 1 alpha JBrowse link NW_004936783 1,210,715 1,218,315 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004936783 1,251,678 1,256,807 RGD:9068941
G Il1rn interleukin 1 receptor antagonist JBrowse link NW_004936783 1,447,158 1,466,331 RGD:9068941
G Il9 interleukin 9 JBrowse link NW_004936597 2,983,953 2,986,975 RGD:9068941
G Il9r interleukin 9 receptor JBrowse link NW_004936501 829,236 840,130 RGD:9068941
G Irf1 interferon regulatory factor 1 JBrowse link NW_004936647 2,686,247 2,693,633 RGD:9068941
G Lep leptin JBrowse link NW_004936479 15,394,966 15,411,334 RGD:9068941
G LOC101959685 complement C5 JBrowse link NW_004936487 9,391,774 9,474,168 RGD:9068941
G LOC101967357 mucin-6 JBrowse link NW_004936816 882 14,717 RGD:9068941
G LOC101969148 cytochrome P450 1A1 JBrowse link NW_004936471 33,682,730 33,688,332 RGD:9068941
G Lta lymphotoxin alpha JBrowse link NW_004936727 1,940,081 1,941,022 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004936619 1,207,058 1,208,010 RGD:9068941
G Mmp9 matrix metallopeptidase 9 JBrowse link NW_004936514 7,038,240 7,045,873 RGD:9068941
G Mpo myeloperoxidase JBrowse link NW_004936490 4,809,773 4,819,070 RGD:9068941
G Muc1 mucin 1, cell surface associated JBrowse link NW_004936580 4,691,870 4,694,092 RGD:9068941
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link NW_004936816 60,499 91,628 RGD:9068941
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link NW_004936816 129,926 159,396 RGD:9068941
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link NW_004936816 174,943 209,241 RGD:9068941
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link NW_004936631 2,503,353 2,538,957 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004936558 5,162,471 5,302,488 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004936538 4,052,277 4,097,051 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004936527 6,427,147 6,445,770 RGD:9068941
G Ppara peroxisome proliferator activated receptor alpha JBrowse link NW_004936629 3,672,445 3,725,645 RGD:9068941
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link NW_004936581 2,069,355 2,072,535 RGD:9068941
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link NW_004936481 3,821,564 3,828,086 RGD:9068941
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link NW_004936709 1,377,852 1,403,398 RGD:9068941
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link NW_004936501 8,021,090 8,065,245 RGD:9068941
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link NW_004936501 7,932,729 7,958,146 RGD:9068941
G Serpina3 serpin family A member 3 JBrowse link NW_004936846 174,411 182,053 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004936712 1,614,979 1,621,207 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004936555 5,966,610 5,982,083 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004936716 60,754 73,010 RGD:9068941
G Tgfb1 transforming growth factor beta 1 JBrowse link NW_004936661 3,742,080 3,758,266 RGD:7240710
RGD:9068941
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link NW_004936502 13,345,936 13,350,170 RGD:9068941
G Tlr4 toll like receptor 4 JBrowse link NW_004936487 6,519,140 6,532,018 RGD:9068941
G Tlr5 toll like receptor 5 JBrowse link NW_004936526 383,490 387,007 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004936727 1,936,066 1,937,766 RGD:9068941
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link NW_004936709 1,407,327 1,421,448 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_004936557 6,562,125 6,588,200 RGD:9068941
G Slc6a14 solute carrier family 6 member 14 JBrowse link NW_004936479 13,024,831 13,051,908 RGD:9068941
G Slc9a3 solute carrier family 9 member A3 JBrowse link NW_004936815 963,715 999,280 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_004936641 932,291 980,440 RGD:7240710
RGD:9068941
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_004936528 1,685,015 1,688,220 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_004936636 292,631 341,999 RGD:7240710
RGD:9068941
G Abcc3 ATP binding cassette subfamily C member 3 JBrowse link NW_004936490 11,039,968 11,086,670 RGD:9068941
G Rdx radixin JBrowse link NW_004936612 3,992,542 4,060,598 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_004936529 348,938 381,701 RGD:9068941
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link NW_004936706 1,816,561 1,829,638 RGD:9068941
G Gjb3 gap junction protein beta 3 JBrowse link NW_004936474 17,427,255 17,431,368 RGD:9068941
G Gjb4 gap junction protein beta 4 JBrowse link NW_004936474 17,407,209 17,409,657 RGD:9068941
G Jup junction plakoglobin JBrowse link NW_004936490 16,671,176 16,694,552 RGD:9068941
G Krt1 keratin 1 JBrowse link NW_004936512 10,084,764 10,090,312 RGD:7240710
RGD:9068941
G Krt10 keratin 10 JBrowse link NW_004936490 15,783,636 15,788,605 RGD:7240710
RGD:9068941
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004936512 10,084,764 10,090,312 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_004936528 1,608,782 1,682,873 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_004936528 1,608,782 1,682,873 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004936528 1,685,015 1,688,220 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_004936501 12,598,907 12,610,306 RGD:9068941
G Prrt2 proline rich transmembrane protein 2 JBrowse link NW_004936501 12,660,181 12,663,788 RGD:7240710
RGD:9068941
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermap erythroblast membrane associated protein (Scianna blood group) JBrowse link NW_004936474 24,149,628 24,161,492 RGD:9068941
G Slc29a1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link NW_004936476 15,849,054 15,862,486 RGD:9068941
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link NW_004936526 2,254,463 2,282,785 RGD:7240710
RGD:9068941
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein beta 2 JBrowse link NW_004936720 1,528,205 1,530,296 RGD:7240710
RGD:9068941
Hyaline Membrane Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link NW_004936543 1,032,543 1,040,956 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004936555 5,966,610 5,982,083 RGD:9068941
hydrophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flt1 fms related tyrosine kinase 1 JBrowse link NW_004936472 23,442,946 23,617,523 RGD:9068941
G Kdr kinase insert domain receptor JBrowse link NW_004936482 17,537,697 17,581,320 RGD:9068941
G LOC101970101 cytochrome P450 1B1 JBrowse link NW_004936663 345,021 355,188 RGD:9068941
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link NW_004936497 5,290,068 5,321,656 RGD:9068941
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link NW_004936509 4,452,382 4,470,658 RGD:9068941
G Ctsa cathepsin A JBrowse link NW_004936514 7,131,263 7,136,775 RGD:9068941
G CUNH1orf105 chromosome unknown C1orf105 homolog JBrowse link NW_004936481 14,936,108 14,962,504 RGD:9068941
G Dnah14 dynein axonemal heavy chain 14 JBrowse link NW_004936526 1,922,088 2,252,731 RGD:9068941
G Fzd6 frizzled class receptor 6 JBrowse link NW_004936470 40,416,254 40,454,717 RGD:9068941
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link NW_004936493 1,984,054 2,184,693 RGD:9068941
G Gusb glucuronidase beta JBrowse link NW_004936543 7,721,273 7,732,468 RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004936596 3,212,593 3,224,426 RGD:9068941
G Myom1 myomesin 1 JBrowse link NW_004936672 1,351,053 1,481,954 RGD:9068941
G Neb nebulin JBrowse link NW_004936469 25,837,577 26,040,271 RGD:9068941
G Pigc phosphatidylinositol glycan anchor biosynthesis class C JBrowse link NW_004936481 14,962,572 14,964,929 RGD:9068941
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link NW_004936565 4,925,400 4,952,210 RGD:9068941
G Ubn1 ubinuclein 1 JBrowse link NW_004936530 4,795,974 4,826,217 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_004936543 794,837 811,637 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_004936695 353,965 492,014 RGD:9068941
RGD:7240710
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kl klotho JBrowse link NW_004936472 27,604,681 27,649,613 RGD:9068941
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial JBrowse link NW_004936514 1,467,460 1,480,185 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_004936597 1,667,700 1,684,533 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_004936536 8,574,064 8,599,446 RGD:7240710
RGD:9068941
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link NW_004936595 1,310,556 1,321,974 RGD:9068941
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link NW_004936595 1,329,492 1,350,914 RGD:9068941
G Col7a1 collagen type VII alpha 1 chain JBrowse link NW_004936529 348,938 381,701 RGD:9068941
G Gjb2 gap junction protein beta 2 JBrowse link NW_004936720 1,528,205 1,530,296 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004936478 20,511,490 20,518,251 RGD:9068941
G Il2rb interleukin 2 receptor subunit beta JBrowse link NW_004936492 3,795,940 3,805,822 RGD:9068941
G Krt2 keratin 2 JBrowse link NW_004936512 10,054,708 10,061,021 RGD:9068941
G LOC101977389 cytochrome P450 4F22 JBrowse link NW_004936596 4,987,577 5,006,459 RGD:9068941
G Mdm2 MDM2 proto-oncogene JBrowse link NW_004936545 6,709,903 6,732,334 RGD:9068941
G Pnpla1 patatin like phospholipase domain containing 1 JBrowse link NW_004936476 23,066,840 23,100,126 RGD:9068941
G Spint1 serine peptidase inhibitor, Kunitz type 1 JBrowse link NW_004936471 4,238,883 4,251,291 RGD:9068941
G Supv3l1 Suv3 like RNA helicase JBrowse link NW_004936521 9,237,081 9,264,441 RGD:9068941
G Tgm1 transglutaminase 1 JBrowse link NW_004936722 292,999 306,540 RGD:9068941
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt2 keratin 2 JBrowse link NW_004936512 10,054,708 10,061,021 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_004936624 2,464,152 2,510,984 RGD:7240710
RGD:9068941
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004936512 10,084,764 10,090,312 RGD:7240710
RGD:9068941
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc27a4 solute carrier family 27 member 4 JBrowse link NW_004936487 15,877,075 15,905,752 RGD:7240710
RGD:9068941
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link NW_004936526 2,254,463 2,282,785 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_004936510 10,246,901 10,276,049 RGD:7240710
RGD:9068941
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_004936558 2,730,098 2,743,062 RGD:7240710
RGD:9068941
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_004936498 849,775 1,063,552 RGD:7240710
RGD:9068941
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101971458 tyrosine-protein kinase ZAP-70 JBrowse link NW_004936744 1,000,105 1,012,712 RGD:7240710
RGD:9068941
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin like glycosyltransferase 3 JBrowse link NW_004936675 1,448,381 1,479,735 RGD:9068941
RGD:7240710
Infantile Hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial JBrowse link NW_004936514 1,467,460 1,480,185 RGD:9068941
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004936597 1,667,700 1,684,533 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_004936495 4,716,359 4,719,162 RGD:7240710
RGD:9068941
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link NW_004936596 3,212,593 3,224,426 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_004936581 3,482,649 3,488,331 RGD:7240710
RGD:9068941
G Tbce tubulin folding cofactor E JBrowse link NW_004936484 17,048,187 17,097,414 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_004936484 17,048,187 17,097,414 RGD:7240710
RGD:9068941
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_004936624 2,464,152 2,510,984 RGD:7240710
RGD:9068941
G Sat1 spermidine/spermine N1-acetyltransferase 1 JBrowse link NW_004936624 756,761 759,979 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_004936512 5,861,933 5,894,898 RGD:7240710
RGD:9068941
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link NW_004936484 19,713,299 19,721,144 RGD:9068941
G Agtr2 angiotensin II receptor type 2 JBrowse link NW_004936479 13,252,678 13,255,570 RGD:9068941
G Atf2 activating transcription factor 2 JBrowse link NW_004936509 4,729,984 4,826,367 RGD:9068941
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link NW_004936581 798,738 801,614 RGD:9068941
Meconium Ileus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CUNH12orf60 chromosome unknown C12orf60 homolog JBrowse link NW_004936587 2,650,860 2,651,996 RGD:9068941
G Gucy2c guanylate cyclase 2C JBrowse link NW_004936587 2,742,911 2,811,139 RGD:7240710
RGD:9068941
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_004936476 25,899,514 25,907,690 RGD:7240710
RGD:9068941
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link NW_004936476 25,913,699 25,923,419 RGD:7240710
RGD:9068941
G Tapbp TAP binding protein JBrowse link NW_004936476 25,554,186 25,566,634 RGD:7240710
RGD:9068941
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_004936596 2,232,183 2,242,267 RGD:9068941
G Ciita class II major histocompatibility complex transactivator JBrowse link NW_004936530 9,033,510 9,073,341 RGD:9068941
RGD:7240710
G Nr2c2ap nuclear receptor 2C2 associated protein JBrowse link NW_004936596 2,223,907 2,225,434 RGD:9068941
G Rfx5 regulatory factor X5 JBrowse link NW_004936580 1,532,806 1,540,353 RGD:7240710
RGD:9068941
G Rfxank regulatory factor X associated ankyrin containing protein JBrowse link NW_004936596 2,225,423 2,231,504 RGD:7240710
RGD:9068941
G Rfxap regulatory factor X associated protein JBrowse link NW_004936472 30,959,399 30,964,863 RGD:7240710
RGD:9068941
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_004936572 1,978,642 1,999,411 RGD:9068941
G Amh anti-Mullerian hormone JBrowse link NW_004936588 1,342,791 1,345,746 RGD:9068941
G Bcdin3d BCDIN3 domain containing RNA methyltransferase JBrowse link NW_004936512 7,516,324 7,521,063 RGD:9068941
G Bsn bassoon presynaptic cytomatrix protein JBrowse link NW_004936529 1,182,872 1,287,794 RGD:9068941
G Cdh11 cadherin 11 JBrowse link NW_004936475 15,513,402 15,662,330 RGD:9068941
G Ebf3 EBF transcription factor 3 JBrowse link NW_004936486 16,978,048 17,092,209 RGD:9068941
G Fam71a family with sequence similarity 71 member A JBrowse link NW_004936557 893,896 895,602 RGD:9068941
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link NW_004936506 2,704,885 2,913,663 RGD:9068941
G Hspb7 heat shock protein family B (small) member 7 JBrowse link NW_004936474 3,583,999 3,587,316 RGD:9068941
G Kdm6b lysine demethylase 6B JBrowse link NW_004936595 1,077,318 1,099,082 RGD:9068941
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link NW_004936501 580,863 583,540 RGD:9068941
G Plcb2 phospholipase C beta 2 JBrowse link NW_004936471 3,756,978 3,776,452 RGD:9068941
G Ptch2 patched 2 JBrowse link NW_004936474 26,052,277 26,069,500 RGD:9068941
G Sim1 SIM bHLH transcription factor 1 JBrowse link NW_004936651 1,841,040 1,911,944 RGD:9068941
G Znf787 zinc finger protein 787 JBrowse link NW_004936981 338,684 354,119 RGD:9068941
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link NW_004936541 813,815 828,826 RGD:9068941
G Itgb3 integrin subunit beta 3 JBrowse link NW_004936541 2,822,789 2,871,069 RGD:9068941
neonatal anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptb spectrin beta, erythrocytic JBrowse link NW_004936495 8,415,950 8,540,590 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_004936528 1,608,782 1,682,873 RGD:9068941
G Gck glucokinase JBrowse link NW_004936478 19,104,477 19,118,915 RGD:9068941
G Ins insulin JBrowse link NW_004936816 1,002,137 1,003,357 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004936528 1,685,015 1,688,220 RGD:9068941
G LOC106145401 insulin, isoform 2 JBrowse link NW_004936816 987,977 1,000,972 RGD:9068941
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link NW_004936472 23,102,534 23,107,127 RGD:9068941
G Th tyrosine hydroxylase JBrowse link NW_004936794 478,651 486,887 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_004936503 989,817 1,283,781 RGD:7240710
RGD:9068941
Neonatal Hyperbilirubinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link NW_004936809 1,269,900 1,285,853 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004936492 5,042,353 5,049,216 RGD:9068941
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link NW_004936785 358,128 406,751 RGD:9068941
G Ncor1 nuclear receptor corepressor 1 JBrowse link NW_004936821 382,756 538,254 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_004936532 5,864,851 5,904,005 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_004936532 5,864,851 5,904,005 RGD:7240710
RGD:9068941
G Iah1 isoamyl acetate hydrolyzing esterase 1 (putative) JBrowse link NW_004936532 5,853,432 5,864,373 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_004936678 365,005 560,546 RGD:7240710
RGD:9068941
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link NW_004936809 1,269,900 1,285,853 RGD:9068941
G Nr1i2 nuclear receptor subfamily 1 group I member 2 JBrowse link NW_004936536 6,691,590 6,726,421 RGD:9068941
Neonatal Pulmonary Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link NW_004936586 5,739,038 5,850,317 RGD:7240710
RGD:9068941
Nesidioblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link NW_004936528 1,608,782 1,682,873 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004936528 1,685,015 1,688,220 RGD:9068941
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link NW_004936682 1,803,862 1,829,352 RGD:9068941
G Gba glucosylceramidase beta JBrowse link NW_004936580 4,715,869 4,720,752 RGD:9068941
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link NW_004936504 6,653,703 6,750,110 RGD:7240710
RGD:9068941
G St14 suppression of tumorigenicity 14 JBrowse link NW_004936572 2,137,820 2,182,674 RGD:9068941
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link NW_004936627 4,414,122 4,448,347 RGD:7240710
RGD:9068941
G Psat1 phosphoserine aminotransferase 1 JBrowse link NW_004936632 4,392,165 4,422,670 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_004936695 1,644,758 1,672,024 RGD:7240710
RGD:9068941
G Ano10 anoctamin 10 JBrowse link NW_004936695 1,726,380 1,904,399 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_004936888 580,773 585,949 RGD:7240710
RGD:9068941
newborn respiratory distress syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link NW_004936533 3,601,270 3,637,128 RGD:9068941
G Epas1 endothelial PAS domain protein 1 JBrowse link NW_004936508 5,855,748 5,938,879 RGD:9068941
G Hmox1 heme oxygenase 1 JBrowse link NW_004936492 5,042,353 5,049,216 RGD:9068941
G Icam1 intercellular adhesion molecule 1 JBrowse link NW_004936659 616,570 627,172 RGD:9068941
G Megf10 multiple EGF like domains 10 JBrowse link NW_004936504 634,167 753,438 RGD:9068941
G Mif macrophage migration inhibitory factor JBrowse link NW_004936619 1,207,058 1,208,010 RGD:9068941
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link NW_004936504 4,413,549 4,495,933 RGD:9068941
G Npsr1 neuropeptide S receptor 1 JBrowse link NW_004936478 10,352,894 10,542,949 RGD:9068941
G Sftpb surfactant protein B JBrowse link NW_004936712 1,614,979 1,621,207 RGD:9068941
G Sftpc surfactant protein C JBrowse link NW_004936555 5,966,610 5,982,083 RGD:9068941
G Sftpd surfactant protein D JBrowse link NW_004936716 60,754 73,010 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004936500 10,345,154 10,352,873 RGD:9068941
G Tnnt2 troponin T2, cardiac type JBrowse link NW_004936567 3,052,167 3,069,077 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004936476 16,245,134 16,261,180 RGD:9068941
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn1 claudin 1 JBrowse link NW_004936578 98,489 113,125 RGD:9068941
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_004936803 765,839 782,176 RGD:7240710
RGD:9068941
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link NW_004936691 2,664,968 2,756,300 RGD:7240710
RGD:9068941
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_004936644 196,344 236,659 RGD:7240710
RGD:9068941
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link NW_004936533 5,952,529 5,980,889 RGD:7240710
RGD:9068941
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link NW_004936613 1,467,797 1,501,107 RGD:7240710
RGD:9068941
G Rag1 recombination activating 1 JBrowse link NW_004936533 1,817,135 1,827,393 RGD:7240710
RGD:9068941
G Rag2 recombination activating 2 JBrowse link NW_004936533 1,801,207 1,807,431 RGD:7240710
RGD:9068941
Oxygen-Induced Retinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link NW_004936578 3,168,599 3,179,369 RGD:9068941
G Amigo2 adhesion molecule with Ig like domain 2 JBrowse link NW_004936512 5,157,076 5,160,251 RGD:9068941
G Csnk2a1 casein kinase 2 alpha 1 JBrowse link NW_004936485 17,966,993 18,021,191 RGD:9068941
G Csnk2a2 casein kinase 2 alpha 2 JBrowse link NW_004936475 10,030,408 10,073,576 RGD:9068941
G Csnk2b casein kinase 2 beta JBrowse link NW_004936727 1,857,596 1,862,551 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004936735 209,369 234,582 RGD:9068941
G Faslg Fas ligand JBrowse link NW_004936481 14,789,547 14,795,780 RGD:9068941
G Ghrl ghrelin and obestatin prepropeptide JBrowse link NW_004936602 3,037,862 3,044,863 RGD:9068941
G Ghsr growth hormone secretagogue receptor JBrowse link NW_004936593 268,736 273,623 RGD:9068941
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link NW_004936495 5,770,988 5,816,157 RGD:9068941
G Hmgb1 high mobility group box 1 JBrowse link NW_004936472 25,236,728 25,246,585 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Kdr kinase insert domain receptor JBrowse link NW_004936482 17,537,697 17,581,320 RGD:9068941
G Mapk8 mitogen-activated protein kinase 8 JBrowse link NW_004936728 1,775,746 1,893,895 RGD:9068941
G Ndp norrin cystine knot growth factor NDP JBrowse link NW_004936502 10,080,169 10,105,155 RGD:9068941
G Pparg peroxisome proliferator activated receptor gamma JBrowse link NW_004936602 1,230,907 1,368,588 RGD:9068941
G Ptafr platelet activating factor receptor JBrowse link NW_004936474 12,333,905 12,337,140 RGD:9068941
G Ptger3 prostaglandin E receptor 3 JBrowse link NW_004936591 1,174,364 1,250,233 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004936543 1,032,543 1,040,956 RGD:9068941
G Serpinf1 serpin family F member 1 JBrowse link NW_004936538 7,885,816 7,898,308 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004936500 10,345,154 10,352,873 RGD:9068941
G Stat3 signal transducer and activator of transcription 3 JBrowse link NW_004936490 17,119,189 17,178,402 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004936727 1,936,066 1,937,766 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004936476 16,245,134 16,261,180 RGD:9068941
periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah11 dynein axonemal heavy chain 11 JBrowse link NW_004936546 7,370,180 7,681,835 RGD:9068941
G Mbp myelin basic protein JBrowse link NW_004936616 2,082,154 2,159,028 RGD:9068941
G Mcoln1 mucolipin 1 JBrowse link NW_004936588 4,600,344 4,608,793 RGD:9068941
G Parp1 poly(ADP-ribose) polymerase 1 JBrowse link NW_004936526 3,102,468 3,147,601 RGD:9068941
G Rps6kc1 ribosomal protein S6 kinase C1 JBrowse link NW_004936557 361,071 578,298 RGD:9068941
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link NW_004936481 19,586,870 19,609,043 RGD:9068941
G Tnf tumor necrosis factor JBrowse link NW_004936727 1,936,066 1,937,766 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_004936528 1,608,782 1,682,873 RGD:7240710
RGD:9068941
G Gck glucokinase JBrowse link NW_004936478 19,104,477 19,118,915 RGD:7240710
RGD:9068941
G Ins insulin JBrowse link NW_004936816 1,002,137 1,003,357 RGD:7240710
RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004936528 1,685,015 1,688,220 RGD:7240710
RGD:9068941
G LOC106145401 insulin, isoform 2 JBrowse link NW_004936816 987,977 1,000,972 RGD:9068941
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link NW_004936472 23,102,534 23,107,127 RGD:9068941
G Ptf1a pancreas associated transcription factor 1a JBrowse link NW_004936520 4,978,896 4,980,648 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_004936520 4,978,896 4,980,648 RGD:7240710
RGD:9068941
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_004936528 1,608,782 1,682,873 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004936528 1,685,015 1,688,220 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_004936586 5,739,038 5,850,317 RGD:9068941
G Foxf1 forkhead box F1 JBrowse link NW_004943883 4 1,756 RGD:7240710
RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004936527 6,427,147 6,445,770 RGD:9068941
G Pten phosphatase and tensin homolog JBrowse link NW_004936735 1,252,414 1,338,318 RGD:9068941
G Stra6 stimulated by retinoic acid 6 JBrowse link NW_004936471 33,224,174 33,245,076 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_004936706 1,816,561 1,829,638 RGD:7240710
RGD:9068941
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link NW_004936469 43,970,002 43,998,279 RGD:9068941
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link NW_004936489 9,983,935 9,993,179 RGD:9068941
G Mplkip M-phase specific PLK1 interacting protein JBrowse link NW_004936478 15,421,612 15,423,894 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_004936512 5,861,933 5,894,898 RGD:7240710
RGD:9068941
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb3 integrin subunit beta 3 JBrowse link NW_004936541 2,822,789 2,871,069 RGD:7240710
RGD:9068941
Premature Infant Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101968921 angiotensin-converting enzyme JBrowse link NW_004936541 4,157,847 4,178,156 RGD:9068941
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_004936490 11,448,552 11,465,836 RGD:9068941
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link NW_004936470 7,755,253 7,761,705 RGD:7240710
RGD:9068941
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag2 recombination activating 2 JBrowse link NW_004936533 1,801,207 1,807,431 RGD:9068941
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link NW_004936474 15,887,014 15,908,522 RGD:7240710
RGD:9068941
Reticular Erythrokeratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link NW_004936512 10,084,764 10,090,312 RGD:9068941
G Krt10 keratin 10 JBrowse link NW_004936490 15,783,636 15,788,605 RGD:7240710
RGD:9068941
retinopathy of prematurity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb3 adrenoceptor beta 3 JBrowse link NW_004936710 1,410,589 1,413,279 RGD:9068941
G Agt angiotensinogen JBrowse link NW_004936484 19,713,299 19,721,144 RGD:9068941
G Angpt2 angiopoietin 2 JBrowse link NW_004936615 4,472,261 4,524,537 RGD:9068941
G Epo erythropoietin JBrowse link NW_004936543 742,722 745,332 RGD:9068941
G Epor erythropoietin receptor JBrowse link NW_004936659 1,468,391 1,473,880 RGD:9068941
G Flt1 fms related tyrosine kinase 1 JBrowse link NW_004936472 23,442,946 23,617,523 RGD:9068941
G Fzd4 frizzled class receptor 4 JBrowse link NW_004936498 14,657,641 14,666,853 RGD:9068941
G Hgf hepatocyte growth factor JBrowse link NW_004936734 354,798 428,356 RGD:9068941
G Icam1 intercellular adhesion molecule 1 JBrowse link NW_004936659 616,570 627,172 RGD:9068941
G Igf1 insulin like growth factor 1 JBrowse link NW_004936492 11,709,623 11,784,028 RGD:9068941
G Igfbp3 insulin like growth factor binding protein 3 JBrowse link NW_004936478 20,511,490 20,518,251 RGD:9068941
G Ihh Indian hedgehog signaling molecule JBrowse link NW_004936569 1,474,693 1,480,562 RGD:9068941
G Il10 interleukin 10 JBrowse link NW_004936557 5,834,874 5,838,502 RGD:9068941
G Il1b interleukin 1 beta JBrowse link NW_004936783 1,251,678 1,256,807 RGD:9068941
G Kdr kinase insert domain receptor JBrowse link NW_004936482 17,537,697 17,581,320 RGD:9068941
G Ndp norrin cystine knot growth factor NDP JBrowse link NW_004936502 10,080,169 10,105,155 RGD:9068941
G Nos1 nitric oxide synthase 1 JBrowse link NW_004936558 5,162,471 5,302,488 RGD:9068941
G Nos2 nitric oxide synthase 2 JBrowse link NW_004936538 4,052,277 4,097,051 RGD:9068941
G Nos3 nitric oxide synthase 3 JBrowse link NW_004936527 6,427,147 6,445,770 RGD:9068941
G Prss23 serine protease 23 JBrowse link NW_004936498 14,560,730 14,563,195 RGD:9068941
G Serpine1 serpin family E member 1 JBrowse link NW_004936543 1,032,543 1,040,956 RGD:9068941
G Serpinf1 serpin family F member 1 JBrowse link NW_004936538 7,885,816 7,898,308 RGD:9068941
G Sod1 superoxide dismutase 1 JBrowse link NW_004936500 10,345,154 10,352,873 RGD:9068941
G Vegfa vascular endothelial growth factor A JBrowse link NW_004936476 16,245,134 16,261,180 RGD:9068941
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link NW_004936470 7,755,253 7,761,705 RGD:7240710
RGD:9068941
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link NW_004936474 15,887,014 15,908,522 RGD:9068941
G Cd247 CD247 molecule JBrowse link NW_004936481 18,544,129 18,605,239 RGD:9068941
G Cd3d CD3d molecule JBrowse link NW_004936542 3,400,129 3,403,628 RGD:9068941
G Cd3e CD3e molecule JBrowse link NW_004936542 3,379,361 3,390,677 RGD:9068941
G Cd3g CD3g molecule JBrowse link NW_004936542 3,405,084 3,412,104 RGD:9068941
G CUNH11orf74 chromosome unknown C11orf74 homolog JBrowse link NW_004936533 1,746,762 1,805,191 RGD:9068941
G Dclre1c DNA cross-link repair 1C JBrowse link NW_004936613 1,467,797 1,501,107 RGD:9068941
G Epo erythropoietin JBrowse link NW_004936543 742,722 745,332 RGD:9068941
G Il2 interleukin 2 JBrowse link NW_004936662 1,594,953 1,599,625 RGD:9068941
G Il2rg interleukin 2 receptor subunit gamma JBrowse link NW_004936762 487,414 491,028 RGD:9068941
G Il7r interleukin 7 receptor JBrowse link NW_004936518 5,815,820 5,842,571 RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004936596 3,212,593 3,224,426 RGD:9068941
G LOC101971458 tyrosine-protein kinase ZAP-70 JBrowse link NW_004936744 1,000,105 1,012,712 RGD:9068941
G LOC101972165 myosin-7 JBrowse link NW_004936722 967,443 991,530 RGD:9068941
G Myoc myocilin JBrowse link NW_004936481 15,544,733 15,556,813 RGD:9068941
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link NW_004936590 4,722,914 4,887,615 RGD:9068941
G Ptprc protein tyrosine phosphatase receptor type C JBrowse link NW_004936567 5,266,653 5,378,464 RGD:9068941
G Rac2 Rac family small GTPase 2 JBrowse link NW_004936492 3,726,375 3,737,961 RGD:9068941
G Rag1 recombination activating 1 JBrowse link NW_004936533 1,817,135 1,827,393 RGD:9068941
G Rag2 recombination activating 2 JBrowse link NW_004936533 1,801,207 1,807,431 RGD:9068941
G Rfx5 regulatory factor X5 JBrowse link NW_004936580 1,532,806 1,540,353 RGD:9068941
G Rfxank regulatory factor X associated ankyrin containing protein JBrowse link NW_004936596 2,225,423 2,231,504 RGD:9068941
G Tapbp TAP binding protein JBrowse link NW_004936476 25,554,186 25,566,634 RGD:9068941
G Tfrc transferrin receptor JBrowse link NW_004936784 696,738 728,385 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_004936569 1,494,783 1,578,587 RGD:7240710
RGD:9068941
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_004936613 1,467,797 1,501,107 RGD:7240710
RGD:9068941
G Lig4 DNA ligase 4 JBrowse link NW_004936472 3,861,833 3,867,943 RGD:9068941
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC101971458 tyrosine-protein kinase ZAP-70 JBrowse link NW_004936744 1,000,105 1,012,712 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_004936596 3,212,593 3,224,426 RGD:9068941
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link NW_004936590 4,722,914 4,887,615 RGD:9068941
G Rag1 recombination activating 1 JBrowse link NW_004936533 1,817,135 1,827,393 RGD:7240710
RGD:9068941
G Rag2 recombination activating 2 JBrowse link NW_004936533 1,801,207 1,807,431 RGD:7240710
RGD:9068941
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_004936596 3,212,593 3,224,426 RGD:7240710
RGD:9068941
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_004936542 3,400,129 3,403,628 RGD:9068941
G Cd3e CD3e molecule JBrowse link NW_004936542 3,379,361 3,390,677 RGD:9068941
G Coro1a coronin 1A JBrowse link NW_004936501 12,338,542 12,344,236 RGD:9068941
G Il7r interleukin 7 receptor JBrowse link NW_004936518 5,815,820 5,842,571 RGD:7240710
RGD:9068941
G Jak3 Janus kinase 3 JBrowse link NW_004936596 3,212,593 3,224,426 RGD:9068941
G Ptprc protein tyrosine phosphatase receptor type C JBrowse link NW_004936567 5,266,653 5,378,464 RGD:7240710
RGD:9068941
Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 JBrowse link NW_004936881 127,090 150,269 RGD:7240710
RGD:9068941
Smith-Kingsmore Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtor mechanistic target of rapamycin kinase JBrowse link NW_004936474 158,376 282,310 RGD:7240710
RGD:9068941
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_004936532 5,270,338 5,368,160 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_004936498 849,775 1,063,552 RGD:7240710
RGD:9068941
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_004936538 4,717,509 4,745,504 RGD:7240710
RGD:9068941
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_004936529 1,298,853 1,306,088 RGD:9068941
G Stk4 serine/threonine kinase 4 JBrowse link NW_004936514 7,686,760 7,784,948 RGD:7240710
RGD:9068941
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004936477 21,591,772 21,606,289 RGD:9068941
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link NW_004936474 7,407,622 7,478,950 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_004936477 21,591,772 21,606,289 RGD:7240710
RGD:9068941
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link NW_004936477 21,591,772 21,606,289 RGD:7240710
RGD:9068941
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_004936528 1,608,782 1,682,873 RGD:9068941
G Gck glucokinase JBrowse link NW_004936478 19,104,477 19,118,915 RGD:9068941
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link NW_004936528 1,685,015 1,688,220 RGD:9068941
G Zfp57 ZFP57 zinc finger protein JBrowse link NW_004936723 1,063,969 1,069,986 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_004936625 2,214,023 2,265,101 RGD:9068941
G Zfp57 ZFP57 zinc finger protein JBrowse link NW_004936723 1,063,969 1,069,986 RGD:7240710
RGD:9068941
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_004936528 1,608,782 1,682,873 RGD:7240710
RGD:9068941
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_004936528 1,685,015 1,688,220 RGD:7240710
RGD:9068941
umbilical hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link NW_004936710 1,760,365 1,815,269 RGD:9068941
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link NW_004936486 10,506,680 10,606,272 RGD:9068941
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link NW_004936503 11,466,955 11,896,887 RGD:9068941
G Plod1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link NW_004936474 740,582 763,294 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_004936580 5,480,023 5,482,288 RGD:9068941
G Ggcx gamma-glutamyl carboxylase JBrowse link NW_004936712 1,696,264 1,709,087 RGD:9068941
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link NW_004936599 1,746,309 1,814,471 RGD:7240710
RGD:9068941
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link NW_004936644 1,091,794 1,113,621 RGD:9068941
G Pudp pseudouridine 5'-phosphatase JBrowse link NW_004936644 1,427,003 1,460,421 RGD:9068941
G Sts steroid sulfatase JBrowse link NW_004936644 1,328,327 1,395,856 RGD:7240710
RGD:9068941
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_004936762 487,414 491,028 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_004936821 290,240 381,126 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 10612
    Developmental Diseases 6897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6058
        Infant, Newborn, Diseases 359
          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 2
          Mobius syndrome + 16
          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 + 83
          Rothmund-Thomson syndrome + 1
          Sclerema Neonatorum 0
          Wolman disease + 0
          asphyxia neonatorum + 13
          benign neonatal seizures + 11
          congenital nystagmus + 8
          congenital syphilis + 0
          congenital toxoplasmosis 0
          cystic fibrosis + 73
          fetal erythroblastosis + 20
          hydrophthalmos + 6
          ichthyosis + 55
          meconium aspiration syndrome 4
          neonatal abstinence syndrome 0
          neonatal anemia + 1
          neonatal diabetes mellitus + 11
          ophthalmia neonatorum 0
          persistent fetal circulation syndrome 5
          severe combined immunodeficiency + 49
          thanatophoric dysplasia + 3
          transient neonatal thrombocytopenia 0
          umbilical hernia + 8
          vitamin K deficiency bleeding 2
paths to the root