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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 FK506 binding protein 5 JBrowse link 20 7,976,704 8,097,290 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:7240710
RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
asphyxia neonatorum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:2302855
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:2302855
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792218
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:10402931
G Map2 microtubule-associated protein 2 JBrowse link 9 73,204,753 73,462,965 RGD:6483085
G Pdia3 protein disulfide isomerase family A, member 3 JBrowse link 3 113,376,983 113,400,707 RGD:9999183
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:11554173
G Psen2 presenilin 2 JBrowse link 13 98,513,600 98,539,347 RGD:11554173
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11554173
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508819
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:2302855
Athabaskan Severe Combined Immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:8554872
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 15 37,377,313 37,394,494 RGD:7364809
RGD:8554872
RGD:7364885
RGD:7240710
RGD:7364889
RGD:7364813
RGD:7364811
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 9 78,521,477 78,693,421 RGD:1598548
RGD:11554173
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:1598668
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:11554173
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:1599073
RGD:8554872
RGD:11554173
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:1599417
RGD:8554872
RGD:7240710
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 20 6,101,061 6,143,762 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:8554872
RGD:11554173
RGD:7240710
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casp14 caspase 14 JBrowse link 7 13,938,376 13,944,286 RGD:8554872
RGD:11554173
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 7 71,152,366 71,169,510 RGD:8554872
RGD:13592920
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
RGD:13592920
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:7240710
RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:7240710
G Sult2b1 sulfotransferase family 2B member 1 JBrowse link 1 101,712,254 101,774,683 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:7240710
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:7240710
RGD:8554872
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
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 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
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 9 78,521,477 78,693,421 RGD:7240710
RGD:8554872
G Cst6 cystatin E/M JBrowse link 1 220,727,292 220,729,000 RGD:13592920
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipn lipase, family member N JBrowse link 1 252,375,941 252,394,226 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers3 ceramide synthase 3 JBrowse link 1 127,706,618 127,781,041 RGD:7240710
RGD:8554872
autosomal recessive distal spinal muscular atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ighmbp2 immunoglobulin mu binding protein 2 JBrowse link 1 218,509,274 218,531,922 RGD:737748
RGD:8554872
RGD:7240710
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnk2 tyrosine kinase, non-receptor, 2 JBrowse link 11 71,348,726 71,388,520 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:7240710
RGD:8554872
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 3 51,687,910 51,822,008 RGD:7240710
RGD:8554872
RGD:13207596
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 7 142,575,629 142,683,659 RGD:8554872
RGD:11554173
Benign Familial Neonatal Convulsions, Dominant Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:9686418
RGD:8554872
RGD:9686433
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 3 176,585,897 176,645,029 RGD:7240710
RGD:8554872
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 3 176,585,897 176,645,029 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:7240710
RGD:8554872
benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:1358436
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:11554173
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:8554872
RGD:13592920
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
Birth Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:4890426
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx2-1 NK2 homeobox 1 JBrowse link 6 77,418,096 77,423,383 RGD:7240710
RGD:8554872
RGD:12914770
RGD:11073166
RGD:12914769
RGD:12914768
G Ttf1 transcription termination factor 1 JBrowse link 3 7,635,630 7,660,153 RGD:7240710
Bronchopulmonary Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:5130750
G Ccl7 C-C motif chemokine ligand 7 JBrowse link 10 69,423,083 69,424,933 RGD:5130981
G Cd209c CD209c molecule JBrowse link 12 2,837,991 2,846,709 RGD:5131185
G Chi3l1 chitinase 3 like 1 JBrowse link 13 51,022,844 51,030,797 RGD:4892651
G Cxcl1 C-X-C motif chemokine ligand 1 JBrowse link 14 18,743,678 18,745,457 RGD:5134972
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537474
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4144841
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:10395385
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:10402122
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792215
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:4142520
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792215
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:10395385
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:4143172
RGD:11554173
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:4143172
RGD:12910846
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:12910846
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:4891007
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5129685
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:5131170
G Postn periostin JBrowse link 2 143,656,820 143,688,087 RGD:11554173
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link 1 225,279,698 225,283,246 RGD:5144211
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208551
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143384
RGD:4144876
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:4143405
RGD:4143384
RGD:4143418
G Sftpd surfactant protein D JBrowse link 16 18,753,535 18,766,100 RGD:4143384
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904049
G Txn1 thioredoxin 1 JBrowse link 5 75,049,735 75,057,731 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432055
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:7240710
RGD:8554872
RGD:7800719
RGD:7800711
RGD:7800707
RGD:7800689
RGD:7800688
RGD:7800680
RGD:7800670
RGD:7800657
RGD:734869
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:13592920
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:13592920
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4galt alpha 1,4-galactosyltransferase JBrowse link 7 124,085,832 124,110,440 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688296
RGD:8554872
RGD:11667069
RGD:7240710
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mymk myomaker, myoblast fusion factor JBrowse link 3 5,608,243 5,617,689 RGD:8554872
RGD:13592920
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:7240710
RGD:8554872
CD40 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8554872
RGD:13592920
CD40 ligand deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490298
RGD:8554872
RGD:11554173
RGD:11039457
RGD:8547781
RGD:8547779
RGD:7240710
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:7240710
RGD:11554173
RGD:8554872
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erf Ets2 repressor factor JBrowse link 1 82,112,449 82,120,902 RGD:8554872
RGD:11554173
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 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
combined T cell and B cell immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Carmil2 capping protein regulator and myosin 1 linker 2 JBrowse link 19 37,652,383 37,665,333 RGD:8554872
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:5490593
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:7240710
RGD:8554872
RGD:2316325
G Il2rgem1Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo RGD:2316325
G Il2rgem2Kyo interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo RGD:2316325
Congenital Hyperinsulinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:704365
RGD:8554872
RGD:12790723
RGD:11069847
RGD:12790596
RGD:11067821
RGD:12790587
RGD:11070657
RGD:12743628
RGD:11554173
RGD:7240710
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:11554173
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:1302513
G Hadh hydroxyacyl-CoA dehydrogenase JBrowse link 2 236,353,445 236,395,067 RGD:2306664
G Hnf4a hepatocyte nuclear factor 4, alpha JBrowse link 3 159,902,441 159,965,003 RGD:12904701
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:7240710
RGD:8554872
RGD:12790723
RGD:11069847
RGD:12790587
RGD:12743643
RGD:12743624
RGD:11554173
G Kcnt2 potassium sodium-activated channel subfamily T member 2 JBrowse link 13 57,130,855 57,520,263 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:7248544
congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP binding cassette subfamily A member 12 JBrowse link 9 78,521,477 78,693,421 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:2316868
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 10 31,241,394 31,258,105 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,933,118 152,964,399 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:8554872
G Tgm1 transglutaminase 1 JBrowse link 15 34,378,136 34,393,150 RGD:8554872
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl hydrocarbon receptor JBrowse link 6 54,963,990 55,001,806 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:13592920
G Myo7a myosin VIIA JBrowse link 1 163,001,313 163,071,545 RGD:11537385
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552281
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:7240710
RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Rhoh ras homolog family member H JBrowse link 14 43,961,756 43,992,587 RGD:8554872
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenoceptor beta 1 JBrowse link 1 277,537,585 277,538,985 RGD:5129107
G Adrb2 adrenoceptor beta 2 JBrowse link 18 57,513,792 57,515,834 RGD:5129107
RGD:4145099
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:5129107
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:6767553
RGD:8695959
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483578
G C5 complement C5 JBrowse link 3
3
14,049,993
14,206,466
14,113,931
14,229,141
RGD:5130162
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:4145455
G Ccl17 C-C motif chemokine ligand 17 JBrowse link 19 10,619,220 10,620,671 RGD:4145491
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:4143275
G Ccl4 C-C motif chemokine ligand 4 JBrowse link 10 70,870,926 70,886,357 RGD:5130907
RGD:5130902
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:4145632
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:4144794
RGD:4144796
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:7248443
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:4140436
RGD:8554872
RGD:11566051
RGD:11554173
RGD:7240710
RGD:734772
RGD:4140394
RGD:4140393
RGD:4140439
RGD:4140481
RGD:4140401
RGD:4140392
RGD:4140429
RGD:4140440
RGD:4140450
RGD:4140464
RGD:4140428
RGD:4140465
RGD:4140438
RGD:4140442
RGD:4140422
RGD:4139910
RGD:4140435
G Clca1 chloride channel accessory 1 JBrowse link 2 250,897,980 250,923,711 RGD:4145657
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:704390
G Csf3r colony stimulating factor 3 receptor JBrowse link 5 144,031,353 144,051,966 RGD:5133738
G Cxcl1 C-X-C motif chemokine ligand 1 JBrowse link 14 18,743,678 18,745,457 RGD:5135034
G Cxcl2 C-X-C motif chemokine ligand 2 JBrowse link 14 18,731,346 18,733,391 RGD:5135034
G Cxcl3 chemokine (C-X-C motif) ligand 3 JBrowse link 14 18,820,168 18,839,659 RGD:5135456
G Cxcl9 C-X-C motif chemokine ligand 9 JBrowse link 14 17,228,832 17,233,743 RGD:5135456
G Cxcr2 C-X-C motif chemokine receptor 2 JBrowse link 9 81,427,275 81,435,065 RGD:5135034
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:4145632
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:4889126
G Dctn4 dynactin subunit 4 JBrowse link 18 55,797,188 55,824,195 RGD:11554173
G Defb4 defensin beta 4 JBrowse link 16 75,634,598 75,637,789 RGD:4892267
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:4145062
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903971
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12904024
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:7240710
RGD:8554872
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 8 85,059,051 85,097,471 RGD:5134682
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10401929
RGD:12798506
RGD:12792246
RGD:12792207
G Gstm3 glutathione S-transferase mu 3 JBrowse link 2 210,685,204 210,688,273 RGD:5135040
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:1331525
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792207
RGD:12792246
RGD:10401929
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link 10 31,561,838 31,590,624 RGD:5135530
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:4145410
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link 20 4,875,834 4,881,751 RGD:6767553
G Hspd1 heat shock protein family D member 1 JBrowse link 9 61,680,529 61,691,202 RGD:12910480
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12904899
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743589
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:4312589
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:4889105
RGD:4889130
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889551
G Il18bp interleukin 18 binding protein JBrowse link 1 167,091,521 167,095,727 RGD:4889551
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:4142849
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:4142844
RGD:4143181
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:4143181
RGD:4143175
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:5128672
RGD:4143275
G Il9 interleukin 9 JBrowse link 17 8,558,827 8,561,950 RGD:5128699
G Il9r interleukin 9 receptor JBrowse link 10 15,697,216 15,708,684 RGD:5128699
G Irf1 interferon regulatory factor 1 JBrowse link 10 39,109,530 39,116,532 RGD:5128720
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128819
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:6767553
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:4889443
RGD:4889447
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:4891053
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5130723
RGD:13204794
G Mpo myeloperoxidase JBrowse link 10 75,087,892 75,098,260 RGD:5130986
RGD:5130968
G Muc1 mucin 1, cell surface associated JBrowse link 2 188,543,137 188,547,874 RGD:5131272
G Muc2 mucin 2, oligomeric mucus/gel-forming JBrowse link 1 214,663,929 214,693,197 RGD:5131426
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming JBrowse link 1 214,725,482 214,756,653 RGD:5131191
G Muc5b mucin 5B, oligomeric mucus/gel-forming JBrowse link 1 214,778,459 214,811,237 RGD:5131191
RGD:5131194
G Muc6 mucin 6, oligomeric mucus/gel-forming JBrowse link 1 214,608,453 214,630,524 RGD:7364748
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:6484688
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:5132865
RGD:5132627
RGD:5132868
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:4891958
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:4892049
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:5683626
G Prss1 serine protease 1 JBrowse link 4 70,776,046 70,779,249 RGD:1599967
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link 1 226,976,455 226,995,641 RGD:5135022
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5135298
RGD:5135523
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 JBrowse link 20 1,814,661 1,833,033 RGD:5144066
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:11554173
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:11554173
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:11554173
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N JBrowse link 6 128,073,344 128,080,878 RGD:5147439
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143403
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:4143381
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:4143403
G Sftpd surfactant protein D JBrowse link 16 18,753,535 18,766,100 RGD:4143502
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:4145125
RGD:8554872
RGD:7240710
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204794
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:4144105
RGD:4144179
G Tlr5 toll-like receptor 5 JBrowse link 13 101,364,784 101,385,764 RGD:5129506
RGD:5129499
G Tlr9 toll-like receptor 9 JBrowse link 8 114,916,122 114,920,171 RGD:5130208
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:4142846
RGD:6767553
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:11554173
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 13 48,512,415 48,539,467 RGD:11554173
G Slc6a14 solute carrier family 6 member 14 JBrowse link X 120,624,522 120,647,964 RGD:11554173
G Slc9a3 solute carrier family 9 member A3 JBrowse link 1 31,731,652 31,777,144 RGD:11554173
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnn4 potassium calcium-activated channel subfamily N member 4 JBrowse link 1 81,227,855 81,245,986 RGD:11554173
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 RGD:7240710
RGD:8554872
DNA ligase IV deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:7240710
RGD:8554872
RGD:13204717
RGD:13204707
RGD:8694074
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link 1 263,554,426 263,612,556 RGD:1598616
RGD:8554872
RGD:11554173
RGD:7240710
RGD:69812
G Abcc3 ATP binding cassette subfamily C member 3 JBrowse link 10 82,047,308 82,116,928 RGD:1598620
G Rdx radixin JBrowse link 8 56,570,728 56,612,851 RGD:13592920
G Slco1a1 solute carrier organic anion transporter family, member 1a1 JBrowse link 4 176,158,174 176,231,331 RGD:1598620
G Slco1a4 solute carrier organic anion transporter family, member 1a4 JBrowse link 4 175,969,549 176,026,227 RGD:1598620
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:11554173
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:11554173
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:13592920
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:1600166
RGD:8554872
RGD:7240710
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:1600168
RGD:8554872
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:8554872
Epilepsy, Benign Neonatal, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:7240710
RGD:8554872
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:7240710
RGD:8554872
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermap erythroblast membrane-associated protein JBrowse link 5 138,227,168 138,240,509 RGD:8554872
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:11100009
G Slc29a1 solute carrier family 29 member 1 JBrowse link 9 17,784,468 17,799,008 RGD:8554872
gamma chain deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:13592920
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:7240710
RGD:8554872
RGD:9588626
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
Hyaline Membrane Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:4144850
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:4143444
hydrophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:1599716
RGD:8554872
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8549773
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549773
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11036098
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 61,758,754 62,013,194 RGD:11554173
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Ctsa cathepsin A JBrowse link 3 161,298,750 161,304,627 RGD:8554872
G Dnah14 dynein axonemal heavy chain 14 JBrowse link 13
13
99,886,373
101,936,210
100,072,674
101,973,640
RGD:8554872
G Fzd6 frizzled class receptor 6 JBrowse link 7 77,898,329 77,931,034 RGD:8554872
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 6 24,770,308 24,985,711 RGD:8554872
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Neb nebulin JBrowse link 3 37,658,081 37,855,843 RGD:8554872
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 13 79,886,832 79,889,305 RGD:8554872
G RGD1309106 similar to hypothetical protein JBrowse link 13 79,856,479 79,901,830 RGD:8554872
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143453
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Ubn1 ubinuclein 1 JBrowse link 10 10,690,224 10,725,655 RGD:8554872
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 12 22,393,338 22,418,332 RGD:8554872
RGD:11554173
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 8 132,441,277 132,537,176 RGD:8554872
RGD:11554173
Hyper-IgM Immunodeficiency, X-Linked, with Ectodermal Dysplasia, Hypohidrotic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikbkg inhibitor of nuclear factor kappa B kinase subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
Hyperbilirubinemia, Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449110
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:4145302
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 16 74,177,233 74,230,809 RGD:11554173
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 10 48,629,121 48,772,890 RGD:11554173
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 RGD:10769330
RGD:11554173
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 RGD:8554872
RGD:7240710
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 JBrowse link 9 95,285,592 95,302,822 RGD:8554872
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 JBrowse link 9 95,274,707 95,302,822 RGD:8554872
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 JBrowse link 9 95,256,628 95,302,822 RGD:8554872
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 JBrowse link 9 95,241,609 95,302,822 RGD:8554872
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 JBrowse link 9 95,221,474 95,302,822 RGD:8554872
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 JBrowse link 9 95,161,157 95,302,822 RGD:8554872
Hypercalcemia, Idiopathic, of Infancy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 3 168,097,484 168,111,920 RGD:8554872
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:11554173
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:7240710
RGD:8554872
hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:7240710
RGD:8554872
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:7240710
RGD:8554872
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:7240710
RGD:8554872
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Col7a1 collagen type VII alpha 1 chain JBrowse link 8 117,694,441 117,726,844 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 7 14,435,024 14,514,960 RGD:8554872
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743608
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:1600192
G Mdm2 MDM2 proto-oncogene JBrowse link 7 60,719,060 60,743,618 RGD:10412066
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 20 6,101,061 6,143,762 RGD:11554173
G Spint1 serine peptidase inhibitor, Kunitz type 1 JBrowse link 3 111,049,132 111,061,991 RGD:10043094
G Supv3l1 Suv3 like RNA helicase JBrowse link 20 32,057,530 32,080,170 RGD:11554173
ichthyosis bullosa of Siemens term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:7240710
RGD:8554872
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt2 keratin 2 JBrowse link 7 143,412,858 143,420,463 RGD:8554872
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 X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 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 3 8,363,937 8,376,858 RGD:7240710
RGD:8554872
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flg filaggrin JBrowse link 2 193,565,401 193,574,297 RGD:1598947
RGD:8554872
RGD:11554173
RGD:7240710
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:13592920
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 7 143,448,318 143,453,544 RGD:7240710
RGD:8554872
G Krt10 keratin 10 JBrowse link 10 87,296,445 87,301,307 RGD:7240710
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 8 91,310,690 91,338,625 RGD:7240710
RGD:8554872
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 12 38,981,903 38,995,570 RGD:7240710
RGD:8554872
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 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 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 15 48,420,419 48,465,171 RGD:8554872
RGD:11554173
Infant, Premature, Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11554173
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
Kenny Caffey Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam111a family with sequence similarity 111, member A JBrowse link 1 229,003,778 229,019,532 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
Kenny-Caffey Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:7240710
RGD:8554872
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 X 40,258,933 40,309,047 RGD:7240710
RGD:8554872
G Sat1 spermidine/spermine N1-acetyl transferase 1 JBrowse link X 43,626,480 43,629,767 RGD:7240710
kernicterus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 RGD:11554173
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173
lysosomal and lipase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:7240710
RGD:8554872
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11039054
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 119,389,480 119,393,845 RGD:11039054
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:13592920
G Scgb1a1 secretoglobin family 1A member 1 JBrowse link 1 225,279,698 225,283,246 RGD:5144123
Meconium Ileus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gucy2c guanylate cyclase 2C JBrowse link 4 170,659,993 170,740,274 RGD:7240710
RGD:8554872
G LOC500354 similar to C030030A07Rik protein JBrowse link 4 170,807,633 170,822,514 RGD:8554872
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 20 3,979,302 3,989,669 RGD:7240710
RGD:8554872
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:7240710
RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:7240710
RGD:8554872
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Borcs8 BLOC-1 related complex subunit 8 JBrowse link 16 21,022,500 21,029,163 RGD:8554872
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:1600188
RGD:8554872
RGD:11554173
RGD:5491200
G Nr2c2ap nuclear receptor 2C2-associated protein JBrowse link 16 21,036,648 21,039,481 RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:8554872
RGD:7240710
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:8554872
RGD:7240710
G Rfxap regulatory factor X-associated protein JBrowse link 2 144,003,453 144,007,636 RGD:8554872
RGD:7240710
Microphthalmia, Isolated, with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:7240710
RGD:8554872
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif, 8 JBrowse link 8 32,017,684 32,037,529 RGD:8554872
G Amh anti-Mullerian hormone JBrowse link 7 11,775,155 11,777,503 RGD:8554872
G Bcdin3d BCDIN3 domain containing RNA methyltransferase JBrowse link 7 141,132,106 141,136,700 RGD:8554872
G Bsn bassoon (presynaptic cytomatrix protein) JBrowse link 8 116,873,721 116,965,396 RGD:8554872
G Cdh11 cadherin 11 JBrowse link 19 2,391,181 2,551,245 RGD:8554872
G Ebf3 early B-cell factor 3 JBrowse link 1 209,523,153 209,641,143 RGD:8554872
G Fam71a family with sequence similarity 71, member A JBrowse link 13 109,768,019 109,770,199 RGD:8554872
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 9 60,451,476 60,843,160 RGD:8554872
G Hspb7 heat shock protein family B (small) member 7 JBrowse link 5 159,968,077 159,971,563 RGD:8554872
G Ints6l integrator complex subunit 6 like JBrowse link X 158,835,334 158,887,055 RGD:8554872
G Kbtbd7 kelch repeat and BTB domain containing 7 JBrowse link 15 61,692,041 61,696,506 RGD:8554872
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:8554872
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link 10 15,495,616 15,498,527 RGD:8554872
G Plcb2 phospholipase C, beta 2 JBrowse link 3 110,497,760 110,517,563 RGD:8554872
G Ptch2 patched 2 JBrowse link 5 135,962,252 135,983,816 RGD:8554872
G Sim1 SIM bHLH transcription factor 1 JBrowse link 20 55,590,810 55,674,002 RGD:8554872
G Zfp787 zinc finger protein 787 JBrowse link 1 71,416,042 71,447,195 RGD:8554872
neonatal anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptb spectrin, beta, erythrocytic JBrowse link 6 99,657,144 99,783,189 RGD:11554173
neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:8554872
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link 12 9,496,044 9,501,211 RGD:8554872
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:8554872
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 1 246,380,816 246,564,385 RGD:7240710
RGD:8554872
Neonatal Inflammatory Skin and Bowel Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:8554872
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 6 43,400,525 43,448,280 RGD:8554872
RGD:7240710
G Iah1 isoamyl acetate hydrolyzing esterase 1 JBrowse link 6 43,393,113 43,400,330 RGD:8554872
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 14 99,919,485 100,104,136 RGD:8554872
RGD:7240710
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449116
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 JBrowse link 11 65,022,100 65,058,546 RGD:11554173
Nesidioblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link 18 12,056,113 12,092,858 RGD:13592920
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:5508433
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link 18 35,118,300 35,190,458 RGD:7240710
RGD:8554872
RGD:11554173
G St14 suppression of tumorigenicity 14 JBrowse link 8 32,240,113 32,280,813 RGD:11554173
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 1 233,124,089 233,145,941 RGD:11554173
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd5 abhydrolase domain containing 5 JBrowse link 8 130,973,222 131,001,448 RGD:7240710
RGD:8554872
G Ano10 anoctamin 10 JBrowse link 8 130,812,941 130,931,021 RGD:8554872
newborn respiratory distress syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8655661
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:13592920
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:4145353
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4145440
RGD:4145493
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:12910849
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:11554173
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:4891007
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:13592920
G Npsr1 neuropeptide S receptor 1 JBrowse link 8 25,246,174 25,483,582 RGD:4891932
G Sftpa1 surfactant protein A1 JBrowse link 16 18,716,019 18,719,404 RGD:4143433
RGD:4143428
G Sftpb surfactant protein B JBrowse link 4 100,166,855 100,175,941 RGD:4143416
RGD:4143455
RGD:4143433
RGD:4143428
RGD:4143418
RGD:4143376
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:4143428
RGD:4144127
G Sftpd surfactant protein D JBrowse link 16 18,753,535 18,766,100 RGD:4143507
RGD:4143428
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655661
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:13592920
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn1 claudin 1 JBrowse link 11 77,815,216 77,830,373 RGD:7240710
RGD:11341732
RGD:8554872
normophosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:7240710
RGD:8554872
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frmd7 FERM domain containing 7 JBrowse link X 138,095,707 138,149,702 RGD:7240710
RGD:11554173
RGD:8554872
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:7240710
RGD:8554872
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
RGD:8554872
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599403
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 11 81,330,845 81,344,488 RGD:7394795
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8548878
RGD:11526145
G Csnk2a1 casein kinase 2 alpha 1 JBrowse link 3 147,713,808 147,760,375 RGD:11565123
G Csnk2a2 casein kinase 2 alpha 2 JBrowse link 19 9,972,537 10,012,043 RGD:11565123
G Csnk2b casein kinase 2 beta JBrowse link 20 5,108,692 5,113,675 RGD:11565123
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903974
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12903974
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:12904963
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:12904963
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:8695923
RGD:9068455
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:10402057
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12910457
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8549715
RGD:1581593
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 16 9,620,854 9,709,342 RGD:10412674
G Ndp NDP, norrin cystine knot growth factor JBrowse link X 6,791,090 6,815,586 RGD:8694208
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:2301844
G Ptafr platelet-activating factor receptor JBrowse link 5 150,746,284 150,775,675 RGD:10041062
G Ptger3 prostaglandin E receptor 3 JBrowse link 2 263,895,093 263,979,682 RGD:9850261
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547749
RGD:13208592
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554878
RGD:8655544
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655606
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:8694296
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7394799
RGD:7394795
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:7483624
periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:7327203
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:8554872
G Parp1 poly (ADP-ribose) polymerase 1 JBrowse link 13 98,857,255 98,889,444 RGD:5683904
G Rps6kc1 ribosomal protein S6 kinase C1 JBrowse link 13 109,338,761 109,589,209 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:1580604
RGD:12904655
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 1 102,110,708 102,191,287 RGD:7240710
RGD:8554872
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:7240710
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
G Ins2 insulin 2 JBrowse link 1 215,856,967 215,858,034 RGD:8554872
RGD:7240710
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:7240710
RGD:8554872
RGD:12743642
RGD:11067932
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link 12 9,496,044 9,501,211 RGD:11554173
RGD:8554872
G Ptf1a pancreas associated transcription factor 1a JBrowse link 17 86,199,623 86,201,477 RGD:8554872
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 17 86,199,623 86,201,477 RGD:7240710
RGD:11554173
RGD:8554872
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 1 102,110,708 102,191,287 RGD:8554872
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
persistent fetal circulation syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:1600716
RGD:11554173
RGD:7240710
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:7240710
RGD:8554872
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:13592920
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:13592920
G Stra6 stimulated by retinoic acid 6 JBrowse link 8 62,925,364 62,944,438 RGD:11554173
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 7 139,454,945 139,484,403 RGD:7240710
RGD:11667102
RGD:8554872
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8554872
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 10 82,745,801 82,762,790 RGD:8554872
Pulmonary Hypertension, Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:8554872
RGD:7240710
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnp purine nucleoside phosphorylase JBrowse link 15 27,875,883 27,883,566 RGD:7240710
RGD:8554872
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:7240710
RGD:8554872
RGD:11100026
retinopathy of prematurity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:5684355
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:11554173
G Angpt2 angiopoietin 2 JBrowse link 16 75,966,480 76,016,147 RGD:2314205
RGD:2314207
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11041658
G Epor erythropoietin receptor JBrowse link 8 22,969,737 22,974,468 RGD:11041658
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:5684426
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:8554872
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548546
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4145427
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548825
RGD:8548867
RGD:8548852
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743584
G Ihh Indian hedgehog JBrowse link 9 82,208,223 82,214,440 RGD:12910978
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364863
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7204128
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:5684426
RGD:8549753
RGD:8549746
G Ndp NDP, norrin cystine knot growth factor JBrowse link X 6,791,090 6,815,586 RGD:8694210
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:7257667
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:7257667
G Nos3 nitric oxide synthase 3 JBrowse link 4 7,321,908 7,342,404 RGD:7771560
G Prss23 serine protease 23 JBrowse link 1 153,732,528 153,742,111 RGD:8554872
G RT1-CE13 RT1 class I, locus CE13 RGD:7365093
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365093
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:8547810
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8655555
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:8655635
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:8548546
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:1599421
RGD:8554872
RGD:11554173
RGD:7240710
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:1300353
RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:11554173
G Cd247 Cd247 molecule JBrowse link 13 83,996,045 84,071,408 RGD:8554872
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:1549420
RGD:8554872
RGD:11554173
G Cd3e CD3e molecule JBrowse link 8 49,297,604 49,309,370 RGD:8554872
RGD:11554173
G Cd3g CD3g molecule JBrowse link 8 49,274,553 49,280,943 RGD:8554872
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:1601049
RGD:8554872
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:2313831
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:1600060
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:1600009
RGD:8554872
G Il7r interleukin 7 receptor RGD:1600151
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
RGD:11554173
RGD:11531109
G Prkdc protein kinase, DNA activated, catalytic polypeptide JBrowse link 11 89,293,547 89,510,948 RGD:1599202
RGD:8696027
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:1599983
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:1599402
RGD:8554872
RGD:7204131
RGD:1599403
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon RGD:7204134
G Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover RGD:7204131
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599402
RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:1599743
RGD:8554872
RGD:1599742
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:1599746
G Rfxap regulatory factor X-associated protein JBrowse link 2 144,003,453 144,007,636 RGD:8554872
G RGD1309730 similar to RIKEN cDNA B230118H07 JBrowse link 3 91,086,186 91,195,981 RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:1599296
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11554173
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:1599880
RGD:8554872
RGD:11554173
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:7240710
RGD:8554872
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 17 78,782,512 78,812,140 RGD:7240710
RGD:8554872
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:7240710
RGD:8554872
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:8554872
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 16 20,107,471 20,120,678 RGD:8554872
G Prkdc protein kinase, DNA activated, catalytic polypeptide JBrowse link 11 89,293,547 89,510,948 RGD:13592920
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
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 16 20,107,471 20,120,678 RGD:1600254
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 8 49,282,502 49,287,095 RGD:7240710
RGD:8554872
G Cd3e CD3e molecule JBrowse link 8 49,297,604 49,309,370 RGD:7240710
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:13592920
G Il7r interleukin 7 receptor RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:7240710
RGD:8554872
Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh3a2 aldehyde dehydrogenase 3 family, member A2 JBrowse link 10 47,525,486 47,546,535 RGD:7240710
RGD:8554872
RGD:11554173
Smith-Kingsmore Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:7240710
RGD:8554872
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 6 44,225,142 44,322,938 RGD:8554872
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
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 10 65,621,142 65,634,666 RGD:7240710
RGD:8554872
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 8 116,857,716 116,862,286 RGD:7240710
G Stk4 serine/threonine kinase 4 JBrowse link 3 160,467,552 160,546,540 RGD:7240710
RGD:8554872
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:2289863
RGD:8554872
RGD:12910972
RGD:11568030
RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:13592920
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
RGD:7240710
Thrombocytopenia, Neonatal Alloimmune term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin subunit alpha 2b JBrowse link 10 90,397,960 90,416,550 RGD:8554872
G Itgb3 integrin subunit beta 3 JBrowse link 10 92,667,869 92,783,413 RGD:8554872
RGD:11554173
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 1 102,110,708 102,191,287 RGD:8554872
RGD:13592920
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:8554872
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
RGD:13592920
G Plagl1 PLAG1 like zinc finger 1 JBrowse link 1 7,219,587 7,270,169 RGD:13592920
G Zfp57 zinc finger protein 57 JBrowse link 20 2,014,177 2,020,488 RGD:8554872
RGD:13592920
Transient Neonatal Diabetes Mellitus, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plagl1 PLAG1 like zinc finger 1 JBrowse link 1 7,219,587 7,270,169 RGD:7240710
G Zfp57 zinc finger protein 57 JBrowse link 20 2,014,177 2,020,488 RGD:7240710
RGD:8554872
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 1 102,110,708 102,191,287 RGD:7240710
RGD:8554872
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 1 102,103,093 102,107,134 RGD:7240710
RGD:8554872
twin-to-twin transfusion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11035270
umbilical hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567270
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11567270
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
Vitamin K Deficiency Bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ggcx gamma-glutamyl carboxylase JBrowse link 4 100,277,345 100,293,097 RGD:11040513
Wolman disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:1600621
RGD:8554872
RGD:1600620
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link X 45,519,406 45,522,988 RGD:8554872
G Pudp pseudouridine 5'-phosphatase JBrowse link 18 45,378,357 45,380,797 RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:7240710
RGD:11554173
RGD:8554872
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L JBrowse link 10 48,774,018 48,831,848 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13834
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6090
      Infant, Newborn, Diseases 397
        Amniotic Band Syndrome + 0
        Birth Injuries + 1
        Caffey disease + 9
        Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
        Colic 0
        Congenital Hyperinsulinism + 8
        Cutis Laxa-Marfanoid Syndrome 0
        Hyperbilirubinemia, Neonatal + 17
        Hypercalcemia, Idiopathic, of Infancy 2
        Hyperglycinemia, Transient Neonatal 0
        Hyperparathyroidism, Neonatal Severe Primary 1
        Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica 0
        Infant, Premature, Diseases + 83
        Meconium Ileus 2
        Mobius syndrome + 18
        Neonatal Inflammatory Skin and Bowel Disease + 3
        Neonatal Sepsis 0
        Posttransfusion Purpura 1
        Pulmonary Hypertension, Neonatal 1
        Rothmund-Thomson syndrome + 1
        Sclerema Neonatorum 0
        Thrombocytopenia, Neonatal Alloimmune 2
        Transient Neonatal Diabetes Mellitus, 1 2
        Transient Neonatal Diabetes Mellitus, 2 1
        Vitamin K Deficiency Bleeding 1
        Wolman disease + 1
        asphyxia neonatorum + 15
        benign neonatal seizures + 9
        congenital nystagmus + 8
        congenital syphilis + 0
        congenital toxoplasmosis 0
        cystic fibrosis + 90
        fetal erythroblastosis + 25
        hydrophthalmos + 8
        ichthyosis + 51
        meconium aspiration syndrome 4
        neonatal abstinence syndrome 0
        neonatal anemia + 2
        neonatal diabetes mellitus + 11
        ophthalmia neonatorum 0
        persistent fetal circulation syndrome 5
        severe combined immunodeficiency + 59
        thanatophoric dysplasia + 3
        transient neonatal thrombocytopenia 0
        umbilical hernia + 11
Path 2
Term Annotations click to browse term
  disease 13834
    Developmental Diseases 6506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6090
        Infant, Newborn, Diseases 397
          Amniotic Band Syndrome + 0
          Birth Injuries + 1
          Caffey disease + 9
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
          Colic 0
          Congenital Hyperinsulinism + 8
          Cutis Laxa-Marfanoid Syndrome 0
          Hyperbilirubinemia, Neonatal + 17
          Hypercalcemia, Idiopathic, of Infancy 2
          Hyperglycinemia, Transient Neonatal 0
          Hyperparathyroidism, Neonatal Severe Primary 1
          Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica 0
          Infant, Premature, Diseases + 83
          Meconium Ileus 2
          Mobius syndrome + 18
          Neonatal Inflammatory Skin and Bowel Disease + 3
          Neonatal Sepsis 0
          Posttransfusion Purpura 1
          Pulmonary Hypertension, Neonatal 1
          Rothmund-Thomson syndrome + 1
          Sclerema Neonatorum 0
          Thrombocytopenia, Neonatal Alloimmune 2
          Transient Neonatal Diabetes Mellitus, 1 2
          Transient Neonatal Diabetes Mellitus, 2 1
          Vitamin K Deficiency Bleeding 1
          Wolman disease + 1
          asphyxia neonatorum + 15
          benign neonatal seizures + 9
          congenital nystagmus + 8
          congenital syphilis + 0
          congenital toxoplasmosis 0
          cystic fibrosis + 90
          fetal erythroblastosis + 25
          hydrophthalmos + 8
          ichthyosis + 51
          meconium aspiration syndrome 4
          neonatal abstinence syndrome 0
          neonatal anemia + 2
          neonatal diabetes mellitus + 11
          ophthalmia neonatorum 0
          persistent fetal circulation syndrome 5
          severe combined immunodeficiency + 59
          thanatophoric dysplasia + 3
          transient neonatal thrombocytopenia 0
          umbilical hernia + 11
paths to the root