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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 17 28,398,753 28,486,149 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 7 25,687,002 25,705,077 RGD:11554173
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 2 163,726,571 163,750,239 RGD:7240710
RGD:8554872
RGD:13592920
G Brca1 breast cancer 1, early onset JBrowse link 11 101,488,761 101,551,957 RGD:8554872
G Jag1 jagged 1 JBrowse link 2 137,081,451 137,116,520 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 RGD:8554872
asphyxia neonatorum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 2 103,453,904 103,485,153 RGD:11554173
G Col1a1 collagen, type I, alpha 1 JBrowse link 11 94,936,224 94,953,042 RGD:8554872
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:2302855
G Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3 JBrowse link 18 32,240,304 32,270,151 RGD:2302855
G Gstm1 glutathione S-transferase, mu 1 JBrowse link 3 108,012,250 108,017,973 RGD:12792218
G Htra2 HtrA serine peptidase 2 JBrowse link 6 83,051,266 83,054,571 RGD:10402931
G Map2 microtubule-associated protein 2 JBrowse link 1 66,175,246 66,442,583 RGD:6483085
G Pdia3 protein disulfide isomerase associated 3 JBrowse link 2 121,413,902 121,438,687 RGD:9999183
G Psen1 presenilin 1 JBrowse link 12 83,688,145 83,738,446 RGD:11554173
G Psen2 presenilin 2 JBrowse link 1 180,227,004 180,263,478 RGD:11554173
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 150,100,031 150,108,234 RGD:11554173
G S100b S100 protein, beta polypeptide, neural JBrowse link 10 76,253,836 76,261,319 RGD:5508819
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,742 90,226,324 RGD:11554173
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:11554173
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 JBrowse link 7 24,546,704 24,573,438 RGD:2302855
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 14 57,098,602 57,104,702 RGD:7364809
RGD:8554872
RGD:13592920
RGD:7364885
RGD:7240710
RGD:7364889
RGD:7364813
RGD:7364811
autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:8554872
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 11 69,157,072 69,169,791 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 11 69,125,525 69,149,115 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 17 32,452,697 32,493,320 RGD:8554872
G Ebp phenylalkylamine Ca2+ antagonist (emopamil) binding protein JBrowse link X 8,185,329 8,193,512 RGD:2316868
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:1601069
G Nipal4 NIPA-like domain containing 4 JBrowse link 11 46,148,155 46,166,359 RGD:8554872
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 72,918,521 72,958,528 RGD:2316868
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 17 28,857,965 28,890,308 RGD:8554872
G Tgm1 transglutaminase 1, K polypeptide JBrowse link 14 55,700,009 55,713,921 RGD:8554872
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:1598548
RGD:11554173
G Abhd5 abhydrolase domain containing 5 JBrowse link 9 122,351,539 122,381,524 RGD:1598668
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 11 69,157,072 69,169,791 RGD:11554173
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 11 69,125,525 69,149,115 RGD:1599073
RGD:8554872
RGD:11554173
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 JBrowse link 7 45,721,169 45,759,555 RGD:8554872
G Tgm1 transglutaminase 1, K polypeptide JBrowse link 14 55,700,009 55,713,921 RGD:1599417
RGD:8554872
RGD:13592920
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 17 28,857,965 28,890,308 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 (colon carcinoma) JBrowse link 9 31,088,590 31,131,882 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 10 78,711,995 78,718,347 RGD:8554872
RGD:7240710
RGD:11554173
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdr9c7 4short chain dehydrogenase/reductase family 9C, member 7 JBrowse link 10 127,898,535 127,911,761 RGD:8554872
RGD:7240710
RGD:13592920
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 JBrowse link 7 45,721,169 45,759,555 RGD:8554872
RGD:7240710
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 11 69,157,072 69,169,791 RGD:7240710
RGD:8554872
G Sult2b1 sulfotransferase family, cytosolic, 2B, member 1 JBrowse link 7 45,721,169 45,759,555 RGD:8554872
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 11 69,125,525 69,149,115 RGD:7240710
RGD:8554872
G Gucy2e guanylate cyclase 2e JBrowse link 11 69,218,117 69,237,358 RGD:8554872
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:7240710
RGD:8554872
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca12 ATP-binding cassette, sub-family A (ABC1), member 12 JBrowse link 1 71,243,090 71,414,910 RGD:7240710
RGD:13592920
RGD:8554872
G Cst6 cystatin E/M JBrowse link 19 5,344,705 5,349,574 RGD:13592920
G Prss8 protease, serine 8 (prostasin) JBrowse link 7 127,925,717 127,930,149 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 17 32,452,697 32,493,320 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 11 46,148,155 46,166,359 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 19 34,067,058 34,085,946 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 7 66,733,105 66,823,692 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 19 3,259,076 3,283,010 RGD:737748
RGD:8554872
RGD:13592920
RGD:7240710
G Spg7 SPG7, paraplegin matrix AAA peptidase subunit JBrowse link 8 123,065,508 123,097,751 RGD:8554872
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnk2 tyrosine kinase, non-receptor, 2 JBrowse link 16 32,644,099 32,683,493 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 13 31,806,646 31,810,635 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 4 133,964,739 133,967,991 RGD:13592920
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:11554173
G Pitx2 paired-like homeodomain transcription factor 2 JBrowse link 3 129,199,878 129,219,594 RGD:7240710
RGD:13592920
RGD:8554872
RGD:11554173
G Prdm5 PR domain containing 5 JBrowse link 6 65,778,753 65,937,622 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 7 127,017,535 127,021,211 RGD:7240710
RGD:8554872
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn2a sodium channel, voltage-gated, type II, alpha JBrowse link 2 65,620,740 65,767,448 RGD:7240710
RGD:8554872
RGD:13207596
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium channel, voltage-gated, type VIII, alpha JBrowse link 15 100,869,789 101,045,938 RGD:8554872
RGD:7240710
RGD:11554173
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 2 181,075,579 181,135,289 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 2 181,075,579 181,135,289 RGD:8554872
G Kcnq3 potassium voltage-gated channel, subfamily Q, member 3 JBrowse link 15 65,986,390 66,286,636 RGD:7240710
RGD:8554872
RGD:9686433
RGD:9686418
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 2 181,075,579 181,135,289 RGD:8554872
benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 JBrowse link 18 56,524,722 56,572,939 RGD:8554872
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide JBrowse link 1 172,271,709 172,298,064 RGD:1358436
G Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 JBrowse link 2 181,075,579 181,135,289 RGD:11554173
RGD:8554872
RGD:13592920
G Kcnq3 potassium voltage-gated channel, subfamily Q, member 3 JBrowse link 15 65,986,390 66,286,636 RGD:8554872
RGD:13592920
G Polg polymerase (DNA directed), gamma JBrowse link 7 79,448,910 79,466,306 RGD:8554872
G Scn2a sodium channel, voltage-gated, type II, alpha JBrowse link 2 65,620,740 65,767,448 RGD:8554872
G Scn3a sodium channel, voltage-gated, type III, alpha JBrowse link 2 65,457,118 65,567,527 RGD:8554872
Birth Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr5 chemokine (C-C motif) receptor 5 JBrowse link 9 124,121,543 124,127,183 RGD:4890426
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm4756 predicted gene 4756 JBrowse link 12 72,620,119 72,629,021 RGD:8554872
G Nkx2-1 NK2 homeobox 1 JBrowse link 12 56,531,935 56,536,908 RGD:7240710
RGD:8554872
RGD:12914770
RGD:11073166
RGD:12914769
RGD:12914768
Bronchopulmonary Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bax BCL2-associated X protein JBrowse link 7 45,461,695 45,468,205 RGD:11537057
G Bid BH3 interacting domain death agonist JBrowse link 6 120,893,119 120,917,141 RGD:11537057
G Casp3 caspase 3 JBrowse link 8 46,617,291 46,639,698 RGD:11537057
G Casp8 caspase 8 JBrowse link 1 58,795,228 58,847,503 RGD:11537057
G Casp9 caspase 9 JBrowse link 4 141,793,612 141,815,978 RGD:11537057
G Cat catalase JBrowse link 2 103,453,904 103,485,153 RGD:5130750
G Ccl7 chemokine (C-C motif) ligand 7 JBrowse link 11 82,045,712 82,047,525 RGD:5130981
G Cd209a CD209a antigen JBrowse link 8 3,743,395 3,748,984 RGD:5131185
G Chil1 chitinase-like 1 JBrowse link 1 134,182,170 134,190,031 RGD:4892651
G Cxcl1 chemokine (C-X-C motif) ligand 1 JBrowse link 5 90,891,245 90,893,121 RGD:5134972
G Dag1 dystroglycan 1 JBrowse link 9 108,204,861 108,263,958 RGD:11537474
G Edn1 endothelin 1 JBrowse link 13 42,301,476 42,307,990 RGD:4144841
G Epas1 endothelial PAS domain protein 1 JBrowse link 17 86,753,864 86,833,410 RGD:10395385
G Flt1 FMS-like tyrosine kinase 1 JBrowse link 5 147,562,196 147,726,005 RGD:10402122
G Gstm1 glutathione S-transferase, mu 1 JBrowse link 3 108,012,250 108,017,973 RGD:12792215
G Gstp1 glutathione S-transferase, pi 1 JBrowse link 19 4,035,411 4,037,912 RGD:4142520
G Gstt1 glutathione S-transferase, theta 1 JBrowse link 10 75,783,813 75,798,584 RGD:12792215
G Hif1a hypoxia inducible factor 1, alpha subunit JBrowse link 12 73,901,324 73,947,554 RGD:10395385
RGD:11537057
G Il1b interleukin 1 beta JBrowse link 2 129,363,842 129,371,170 RGD:4143172
RGD:11554173
G Il1rn interleukin 1 receptor antagonist JBrowse link 2 24,336,860 24,351,491 RGD:4143172
RGD:12910846
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,686 RGD:12910846
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) JBrowse link 10 75,859,353 75,860,250 RGD:4891007
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,744 164,955,850 RGD:5129685
G Muc1 mucin 1, transmembrane JBrowse link 3 89,229,056 89,233,381 RGD:5131170
G Postn periostin, osteoblast specific factor JBrowse link 3 54,359,272 54,391,041 RGD:11554173
G Scgb1a1 secretoglobin, family 1A, member 1 (uteroglobin) JBrowse link 19 9,083,642 9,087,956 RGD:5144211
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 JBrowse link 5 137,061,504 137,072,272 RGD:13208551
G Sftpa1 surfactant associated protein A1 JBrowse link 14 41,131,788 41,136,373 RGD:4143384
RGD:4144876
G Sftpb surfactant associated protein B JBrowse link 6 72,304,610 72,314,373 RGD:4143405
RGD:4143384
RGD:4143418
G Sftpd surfactant associated protein D JBrowse link 14 41,172,212 41,185,198 RGD:4143384
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:12904049
G Trp53 transformation related protein 53 JBrowse link 11 69,580,359 69,591,873 RGD:11537057
G Txn1 thioredoxin 1 JBrowse link 4 57,943,373 57,956,411 RGD:11554173
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor JBrowse link 15 97,854,427 97,908,296 RGD:13432055
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:8554872
G Krt2 keratin 2 JBrowse link 15 101,810,689 101,818,169 RGD:7240710
RGD:13592920
RGD:8554872
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 17 79,696,282 79,715,330 RGD:7240710
RGD:8554872
RGD:13592920
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 13 31,806,646 31,810,635 RGD:13592920
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 12 84,783,212 84,877,270 RGD:8554872
G Myoc myocilin JBrowse link 1 162,639,150 162,649,694 RGD:8554872
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:13592920
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4galt alpha 1,4-galactosyltransferase JBrowse link 15 83,226,722 83,251,774 RGD:8554872
G Col1a1 collagen, type I, alpha 1 JBrowse link 11 94,936,224 94,953,042 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 2 27,061,636 27,072,161 RGD:8554872
RGD:7240710
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 4 107,903,982 107,923,589 RGD:7240710
RGD:8554872
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nsdhl NAD(P) dependent steroid dehydrogenase-like JBrowse link X 72,918,521 72,958,528 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 7 25,242,560 25,250,758 RGD:8554872
RGD:7240710
RGD:11554173
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag1 recombination activating gene 1 JBrowse link 2 101,638,252 101,649,532 RGD:7240710
RGD:8554872
G Rag2 recombination activating gene 2 JBrowse link 2 101,624,748 101,632,528 RGD:7240710
RGD:8554872
Congenital Hyperinsulinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:704365
RGD:8554872
RGD:12790723
RGD:11069847
RGD:12790596
RGD:11067821
RGD:12790587
RGD:11070657
RGD:12743628
RGD:11554173
G Gck glucokinase JBrowse link 11 5,900,816 5,950,081 RGD:11554173
G Glud1 glutamate dehydrogenase 1 JBrowse link 14 34,310,727 34,345,033 RGD:1302513
G Hadh hydroxyacyl-Coenzyme A dehydrogenase JBrowse link 3 131,233,419 131,272,101 RGD:2306664
G Hnf4a hepatic nuclear factor 4, alpha JBrowse link 2 163,506,809 163,572,907 RGD:12904701
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:11554173
RGD:8554872
RGD:12790723
RGD:11069847
RGD:12790587
RGD:12743643
RGD:12743624
G Kcnt2 potassium channel, subfamily T, member 2 JBrowse link 1 140,245,657 140,613,962 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 14 101,442,360 101,609,226 RGD:7248544
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:8554872
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahr aryl-hydrocarbon receptor JBrowse link 12 35,497,979 35,534,989 RGD:11554173
RGD:13592920
G Atf6 activating transcription factor 6 JBrowse link 1 170,704,457 170,867,787 RGD:11554173
G Frmd7 FERM domain containing 7 JBrowse link X 50,892,645 50,943,619 RGD:8554872
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:13592920
G Myo7a myosin VIIA JBrowse link 7 98,051,054 98,119,524 RGD:11537385
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:8552281
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase A, fructose-bisphosphate JBrowse link 7 126,795,234 126,809,510 RGD:8554872
G Coro1a coronin, actin binding protein 1A JBrowse link 7 126,699,774 126,704,816 RGD:7240710
RGD:8554872
G Dnm2 dynamin 2 JBrowse link 9 21,424,908 21,507,759 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 7 126,766,414 126,775,645 RGD:8554872
G Mapk3 mitogen-activated protein kinase 3 JBrowse link 7 126,759,626 126,765,816 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 7 126,785,866 126,792,471 RGD:8554872
G Rhoh ras homolog family member H JBrowse link 5 65,861,403 65,896,700 RGD:8554872
G Tbx6 T-box 6 JBrowse link 7 126,781,483 126,785,548 RGD:8554872
G Ypel3 yippee like 3 JBrowse link 7 126,776,975 126,780,514 RGD:8554872
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:7240710
RGD:8554872
G Krt10 keratin 10 JBrowse link 11 99,385,254 99,389,699 RGD:7240710
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb1 adrenergic receptor, beta 1 JBrowse link 19 56,722,372 56,724,862 RGD:5129107
G Adrb2 adrenergic receptor, beta 2 JBrowse link 18 62,177,713 62,179,981 RGD:5129107
RGD:4145099
G Adrb3 adrenergic receptor, beta 3 JBrowse link 8 27,225,776 27,230,807 RGD:5129107
G Ager advanced glycosylation end product-specific receptor JBrowse link 17 34,597,410 34,600,937 RGD:6767553
RGD:8695959
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring JBrowse link 1 87,125,008 87,127,912 RGD:14349050
G Bglap bone gamma carboxyglutamate protein JBrowse link 3 88,383,495 88,384,466 RGD:6483578
G Ccl11 chemokine (C-C motif) ligand 11 JBrowse link 11 82,057,832 82,062,955 RGD:4145455
G Ccl17 chemokine (C-C motif) ligand 17 JBrowse link 8 94,805,250 94,812,038 RGD:4145491
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:4143275
G Ccl4 chemokine (C-C motif) ligand 4 JBrowse link 11 83,648,624 83,664,683 RGD:5130907
RGD:5130902
G Ccr3 chemokine (C-C motif) receptor 3 JBrowse link 9 124,017,825 124,031,689 RGD:4145632
G Cd14 CD14 antigen JBrowse link 18 36,725,064 36,726,815 RGD:4144794
RGD:4144796
G Cd40lg CD40 ligand JBrowse link X 57,212,143 57,224,042 RGD:7248443
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 6 18,170,262 18,322,774 RGD:4140481
RGD:8554872
RGD:13592920
RGD:11566051
RGD:11554173
RGD:734772
RGD:7240710
RGD:4139910
RGD:4140394
RGD:4140393
RGD:4140428
RGD:4140439
RGD:4140392
RGD:4140401
RGD:4140429
RGD:4140450
RGD:4140440
RGD:4140422
RGD:4140465
RGD:4140464
RGD:4140438
RGD:4140442
RGD:4140435
RGD:4140436
G Clca1 chloride channel accessory 1 JBrowse link 3 145,004,537 145,032,776 RGD:4145657
G Csf3r colony stimulating factor 3 receptor (granulocyte) JBrowse link 4 126,023,441 126,044,975 RGD:5133738
G Cxcl1 chemokine (C-X-C motif) ligand 1 JBrowse link 5 90,891,245 90,893,121 RGD:5135034
G Cxcl2 chemokine (C-X-C motif) ligand 2 JBrowse link 5 90,903,899 90,905,938 RGD:5135034
G Cxcl3 chemokine (C-X-C motif) ligand 3 JBrowse link 5 90,786,101 90,788,093 RGD:5135456
G Cxcl9 chemokine (C-X-C motif) ligand 9 JBrowse link 5 92,321,331 92,328,079 RGD:5135456
G Cxcr2 chemokine (C-X-C motif) receptor 2 JBrowse link 1 74,153,994 74,161,246 RGD:5135034
G Cxcr3 chemokine (C-X-C motif) receptor 3 JBrowse link X 101,731,535 101,734,147 RGD:4145632
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 9 57,687,928 57,703,824 RGD:4889126
G Dctn4 dynactin 4 JBrowse link 18 60,526,159 60,558,762 RGD:11554173
G Defb4 defensin beta 4 JBrowse link 8 19,198,704 19,201,547 RGD:4892267
G Edn1 endothelin 1 JBrowse link 13 42,301,476 42,307,990 RGD:4145062
G Fas Fas (TNF receptor superfamily member 6) JBrowse link 19 34,290,659 34,327,775 RGD:12903971
G Fasl Fas ligand (TNF superfamily, member 6) JBrowse link 1 161,780,691 161,788,495 RGD:12904024
G Fcgr3 Fc receptor, IgG, low affinity III JBrowse link 1 171,051,169 171,065,936 RGD:7240710
RGD:8554872
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 9 77,754,518 77,794,489 RGD:5134682
G Gstm1 glutathione S-transferase, mu 1 JBrowse link 3 108,012,250 108,017,973 RGD:10401929
RGD:12798506
RGD:12792246
RGD:12792207
G Gstm3 glutathione S-transferase, mu 3 JBrowse link 3 107,963,696 107,969,174 RGD:5135040
G Gstp1 glutathione S-transferase, pi 1 JBrowse link 19 4,035,411 4,037,912 RGD:1331525
G Gstt1 glutathione S-transferase, theta 1 JBrowse link 10 75,783,813 75,798,584 RGD:12792207
RGD:12792246
RGD:10401929
G H2-M3 histocompatibility 2, M region locus 3 JBrowse link 17 37,270,234 37,274,485 RGD:5144066
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link 11 46,454,931 46,481,255 RGD:5135530
G Hc hemolytic complement JBrowse link 2 34,983,329 35,067,034 RGD:5130162
G Hmox1 heme oxygenase 1 JBrowse link 8 75,093,618 75,100,593 RGD:4145410
G Hspa1a heat shock protein 1A JBrowse link 17 34,969,359 34,972,156 RGD:6767553
G Hspd1 heat shock protein 1 (chaperonin) JBrowse link 1 55,077,834 55,088,217 RGD:12910480
G Igf1 insulin-like growth factor 1 JBrowse link 10 87,858,265 87,937,047 RGD:12904899
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 11 7,206,086 7,214,081 RGD:12743589
G Il13 interleukin 13 JBrowse link 11 53,631,323 53,634,702 RGD:4312589
G Il17a interleukin 17A JBrowse link 1 20,730,905 20,734,496 RGD:4889105
RGD:4889130
G Il18 interleukin 18 JBrowse link 9 50,554,705 50,581,841 RGD:4889551
G Il18bp interleukin 18 binding protein JBrowse link 7 102,015,077 102,018,155 RGD:4889551
G Il1a interleukin 1 alpha JBrowse link 2 129,299,609 129,310,877 RGD:4142849
G Il1b interleukin 1 beta JBrowse link 2 129,363,842 129,371,170 RGD:4142844
RGD:4143181
G Il1rn interleukin 1 receptor antagonist JBrowse link 2 24,336,860 24,351,491 RGD:4143175
RGD:4143181
G Il6 interleukin 6 JBrowse link 5 30,013,114 30,019,975 RGD:5128672
RGD:4143275
G Il9 interleukin 9 JBrowse link 13 56,479,277 56,482,246 RGD:5128699
G Il9r interleukin 9 receptor JBrowse link 11 32,187,544 32,205,345 RGD:5128699
G Irf1 interferon regulatory factor 1 JBrowse link 11 53,770,014 53,778,374 RGD:5128720
G Lep leptin JBrowse link 6 29,060,195 29,073,877 RGD:5128819
G Lta lymphotoxin A JBrowse link 17 35,203,165 35,205,632 RGD:6767553
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,686 RGD:4889443
RGD:4889447
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) JBrowse link 10 75,859,353 75,860,250 RGD:4891053
G Mmp9 matrix metallopeptidase 9 JBrowse link 2 164,940,744 164,955,850 RGD:5130723
RGD:13204794
G Mpo myeloperoxidase JBrowse link 11 87,793,784 87,804,412 RGD:5130986
RGD:5130968
G Muc1 mucin 1, transmembrane JBrowse link 3 89,229,056 89,233,381 RGD:5131272
G Muc2 mucin 2 JBrowse link 7 141,690,340 141,754,694 RGD:5131426
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric JBrowse link 7 141,788,958 141,819,217 RGD:5131191
G Muc5b mucin 5, subtype B, tracheobronchial JBrowse link 7 141,839,012 141,873,089 RGD:5131191
RGD:5131194
G Muc6 mucin 6, gastric JBrowse link 7 141,634,049 141,655,308 RGD:7364748
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 1 63,143,592 63,176,822 RGD:6484688
G Nos1 nitric oxide synthase 1, neuronal JBrowse link 5 117,780,987 117,958,840 RGD:5132868
RGD:5132627
RGD:5132865
G Nos2 nitric oxide synthase 2, inducible JBrowse link 11 78,920,787 78,960,232 RGD:4891958
G Nos3 nitric oxide synthase 3, endothelial cell JBrowse link 5 24,364,819 24,384,474 RGD:4892049
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 15 85,734,628 85,806,851 RGD:5683626
G Prss1 protease, serine 1 (trypsin 1) JBrowse link 6 41,458,930 41,463,786 RGD:1599967
G Ptgdr2 prostaglandin D2 receptor 2 JBrowse link 19 10,927,861 10,942,511 RGD:5135022
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 150,100,031 150,108,234 RGD:5135298
RGD:5135523
G Scnn1a sodium channel, nonvoltage-gated 1 alpha JBrowse link 6 125,321,052 125,344,943 RGD:11554173
G Scnn1b sodium channel, nonvoltage-gated 1 beta JBrowse link 7 121,865,038 121,918,728 RGD:11554173
RGD:13592920
G Scnn1g sodium channel, nonvoltage-gated 1 gamma JBrowse link 7 121,734,421 121,768,482 RGD:11554173
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N JBrowse link 12 104,406,698 104,414,334 RGD:5147439
G Sftpa1 surfactant associated protein A1 JBrowse link 14 41,131,788 41,136,373 RGD:4143403
G Sftpb surfactant associated protein B JBrowse link 6 72,304,610 72,314,373 RGD:4143381
G Sftpc surfactant associated protein C JBrowse link 14 70,520,941 70,524,081 RGD:4143403
G Sftpd surfactant associated protein D JBrowse link 14 41,172,212 41,185,198 RGD:4143502
G Tgfb1 transforming growth factor, beta 1 JBrowse link 7 25,687,002 25,705,077 RGD:4145125
RGD:8554872
RGD:7240710
G Timp1 tissue inhibitor of metalloproteinase 1 JBrowse link X 20,870,166 20,874,737 RGD:13204794
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:4144105
RGD:4144179
G Tlr5 toll-like receptor 5 JBrowse link 1 182,954,752 182,976,044 RGD:5129506
RGD:5129499
G Tlr9 toll-like receptor 9 JBrowse link 9 106,222,598 106,226,876 RGD:5130208
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:4142846
RGD:6767553
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a JBrowse link 6 125,349,723 125,362,483 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 1 131,744,022 131,771,504 RGD:11554173
G Slc6a14 solute carrier family 6 (neurotransmitter transporter), member 14 JBrowse link X 21,714,900 21,742,358 RGD:11554173
G Slc9a3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 JBrowse link 13 74,086,253 74,169,442 RGD:11554173
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 8 122,481,698 122,551,657 RGD:7240710
RGD:8554872
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:8554872
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 JBrowse link 19 43,782,308 43,838,332 RGD:1598616
RGD:8554872
RGD:11554173
RGD:7240710
RGD:69812
G Abcc3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 JBrowse link 11 94,343,295 94,393,018 RGD:1598620
G Rdx radixin JBrowse link 9 52,047,150 52,088,738 RGD:13592920
G Slco1a1 solute carrier organic anion transporter family, member 1a1 JBrowse link 6 141,907,281 141,946,962 RGD:1598620
G Slco1a4 solute carrier organic anion transporter family, member 1a4 JBrowse link 6 141,805,438 141,856,284 RGD:1598620
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:8554872
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:11554173
G Gjb3 gap junction protein, beta 3 JBrowse link 4 127,325,235 127,330,836 RGD:11554173
G Gjb4 gap junction protein, beta 4 JBrowse link 4 127,340,954 127,354,139 RGD:11554173
G Jup junction plakoglobin JBrowse link 11 100,368,856 100,397,805 RGD:13592920
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:1600166
RGD:13592920
RGD:8554872
RGD:7240710
G Krt10 keratin 10 JBrowse link 11 99,385,254 99,389,699 RGD:1600168
RGD:13592920
RGD:8554872
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:8554872
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:7240710
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:8554872
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:8554872
RGD:7240710
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mvp major vault protein JBrowse link 7 126,986,860 127,014,594 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 7 127,017,535 127,021,211 RGD:7240710
RGD:8554872
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ermap erythroblast membrane-associated protein JBrowse link 4 119,175,457 119,190,017 RGD:8554872
G Fcgr3 Fc receptor, IgG, low affinity III JBrowse link 1 171,051,169 171,065,936 RGD:11100009
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 JBrowse link 17 45,585,200 45,599,603 RGD:8554872
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 1 181,815,315 181,842,401 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 14 57,098,602 57,104,702 RGD:7240710
RGD:8554872
Hyaline Membrane Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 JBrowse link 5 137,061,504 137,072,272 RGD:4144850
G Sftpc surfactant associated protein C JBrowse link 14 70,520,941 70,524,081 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 17 79,696,282 79,715,330 RGD:1599716
G Flt1 FMS-like tyrosine kinase 1 JBrowse link 5 147,562,196 147,726,005 RGD:8549773
G Kdr kinase insert domain protein receptor JBrowse link 5 75,933,265 75,979,074 RGD:8549773
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G 4930558K02Rik RIKEN cDNA 4930558K02 gene JBrowse link 1 161,942,089 161,982,371 RGD:8554872
G Alb albumin JBrowse link 5 90,460,870 90,476,602 RGD:11036098
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 66,056,855 66,291,838 RGD:11554173
G Chrna1 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) JBrowse link 2 73,563,281 73,580,338 RGD:8554872
G Ctsa cathepsin A JBrowse link 2 164,832,872 164,841,032 RGD:8554872
G Dnah14 dynein, axonemal, heavy chain 14 JBrowse link 1 181,589,974 181,814,741 RGD:8554872
G Fzd6 frizzled class receptor 6 JBrowse link 15 39,005,669 39,038,194 RGD:8554872
G Galnt14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 17 73,493,207 73,710,755 RGD:8554872
G Gusb glucuronidase, beta JBrowse link 5 129,989,011 130,003,044 RGD:8554872
G Hba-a1 hemoglobin alpha, adult chain 1 JBrowse link 11 32,283,672 32,284,486 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 RGD:8554872
G Myom1 myomesin 1 JBrowse link 17 71,019,002 71,126,856 RGD:8554872
G Neb nebulin JBrowse link 2 52,136,640 52,338,798 RGD:8554872
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 1 161,969,188 161,973,460 RGD:8554872
G Sftpa1 surfactant associated protein A1 JBrowse link 14 41,131,788 41,136,373 RGD:4143453
G Thsd1 thrombospondin, type I, domain 1 JBrowse link 8 22,225,862 22,261,334 RGD:8554872
G Ubn1 ubinuclein 1 JBrowse link 16 5,049,988 5,086,289 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 5 137,350,109 137,374,522 RGD:8554872
RGD:7240710
RGD:11554173
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase, mitochondrial JBrowse link 9 123,366,916 123,462,666 RGD:8554872
RGD:7240710
RGD:11554173
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 JBrowse link 1 88,211,959 88,220,002 RGD:7240710
RGD:8554872
G Ugt1a10 UDP glycosyltransferase 1 family, polypeptide A10 JBrowse link 1 88,055,411 88,220,002 RGD:8554872
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 JBrowse link 1 88,200,611 88,220,002 RGD:8554872
G Ugt1a5 UDP glucuronosyltransferase 1 family, polypeptide A5 JBrowse link 1 88,166,012 88,220,002 RGD:8554872
G Ugt1a6b UDP glucuronosyltransferase 1 family, polypeptide A6B JBrowse link 1 88,103,257 88,218,998 RGD:8554872
G Ugt1a9 UDP glucuronosyltransferase 1 family, polypeptide A9 JBrowse link 1 88,070,779 88,220,002 RGD:8554872
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 2 170,482,957 170,497,145 RGD:8554872
RGD:7240710
G Kl klotho JBrowse link 5 150,952,607 150,993,817 RGD:11554173
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 JBrowse link 13 55,399,622 55,414,695 RGD:8554872
RGD:7240710
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 16 36,490,585 36,562,141 RGD:7240710
RGD:8554872
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 11 69,157,072 69,169,791 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 11 69,125,525 69,149,115 RGD:8554872
G Col7a1 collagen, type VII, alpha 1 JBrowse link 9 108,953,575 108,984,876 RGD:8554872
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 JBrowse link 17 32,452,697 32,493,320 RGD:8554872
G Flg filaggrin JBrowse link 3 93,273,546 93,293,689 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 14 57,098,602 57,104,702 RGD:11554173
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 11 7,206,086 7,214,081 RGD:12743608
G Il2rb interleukin 2 receptor, beta chain JBrowse link 15 78,479,256 78,511,621 RGD:8554872
G Krt2 keratin 2 JBrowse link 15 101,810,689 101,818,169 RGD:1600192
G Mdm2 transformed mouse 3T3 cell double minute 2 JBrowse link 10 117,688,875 117,710,758 RGD:10412066
G Pnpla1 patatin-like phospholipase domain containing 1 JBrowse link 17 28,857,965 28,890,308 RGD:11554173
RGD:8554872
G Spint1 serine protease inhibitor, Kunitz type 1 JBrowse link 2 119,237,360 119,249,535 RGD:10043094
G Supv3l1 suppressor of var1, 3-like 1 (S. cerevisiae) JBrowse link 10 62,429,329 62,451,295 RGD:11554173
G Tgm1 transglutaminase 1, K polypeptide JBrowse link 14 55,700,009 55,713,921 RGD:8554872
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt2 keratin 2 JBrowse link 15 101,810,689 101,818,169 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 157,547,822 157,598,715 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 15 101,845,426 101,850,786 RGD:7240710
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc27a4 solute carrier family 27 (fatty acid transporter), member 4 JBrowse link 2 29,802,680 29,817,522 RGD:7240710
RGD:8554872
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flg filaggrin JBrowse link 3 93,273,546 93,293,689 RGD:1598947
RGD:8554872
RGD:11554173
RGD:7240710
G Lbr lamin B receptor JBrowse link 1 181,815,315 181,842,401 RGD:13592920
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 JBrowse link 9 83,778,692 83,806,305 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 5 123,015,074 123,030,452 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 7 102,261,514 102,437,319 RGD:7240710
RGD:8554872
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta-chain (TCR) associated protein kinase JBrowse link 1 36,761,798 36,782,821 RGD:7240710
RGD:8554872
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostoses (multiple)-like 3 JBrowse link 14 65,052,059 65,149,899 RGD:8554872
RGD:7240710
RGD:11554173
Infantile Hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 JBrowse link 2 170,482,957 170,497,145 RGD:8554872
RGD:11554173
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 JBrowse link 13 55,399,622 55,414,695 RGD:11554173
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 sine oculis-related homeobox 6 JBrowse link 12 72,939,882 72,944,899 RGD:7240710
RGD:8554872
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 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 19 12,573,072 12,589,769 RGD:7240710
RGD:8554872
G Tbce tubulin-specific chaperone E JBrowse link 13 13,997,947 14,039,639 RGD:11554173
Kenny-Caffey Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin-specific chaperone E JBrowse link 13 13,997,947 14,039,639 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 157,547,822 157,598,715 RGD:7240710
RGD:8554872
kernicterus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 JBrowse link 1 88,211,959 88,220,002 RGD:11554173
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen, type II, alpha 1 JBrowse link 15 97,975,602 98,004,724 RGD:7240710
RGD:8554872
RGD:11554173
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) JBrowse link 8 124,556,587 124,569,707 RGD:11039054
G Agtr2 angiotensin II receptor, type 2 JBrowse link X 21,484,549 21,488,833 RGD:11039054
G Atf2 activating transcription factor 2 JBrowse link 2 73,816,509 73,892,639 RGD:13592920
G Scgb1a1 secretoglobin, family 1A, member 1 (uteroglobin) JBrowse link 19 9,083,642 9,087,956 RGD:5144123
Meconium Ileus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BC049715 cDNA sequence BC049715 JBrowse link 6 136,828,145 136,841,920 RGD:8554872
G Gucy2c guanylate cyclase 2c JBrowse link 6 136,697,284 136,781,742 RGD:7240710
RGD:8554872
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) JBrowse link 17 34,187,556 34,197,225 RGD:7240710
RGD:8554872
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) JBrowse link 17 34,204,479 34,216,321 RGD:7240710
RGD:8554872
G Tapbp TAP binding protein JBrowse link 17 33,919,478 33,929,290 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 8 70,139,499 70,148,635 RGD:8554872
G Ciita class II transactivator JBrowse link 16 10,480,014 10,528,606 RGD:1600188
RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
RGD:5491200
G Nr2c2ap nuclear receptor 2C2-associated protein JBrowse link 8 70,131,327 70,133,752 RGD:8554872
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) JBrowse link 3 94,953,068 94,961,561 RGD:8554872
RGD:7240710
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 8 70,130,806 70,139,197 RGD:8554872
RGD:7240710
G Rfxap regulatory factor X-associated protein JBrowse link 3 54,803,115 54,807,791 RGD:8554872
RGD:7240710
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts8 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 8 JBrowse link 9 30,942,562 30,963,838 RGD:8554872
G Amh anti-Mullerian hormone JBrowse link 10 80,805,028 80,807,679 RGD:8554872
G Bcdin3d BCDIN3 domain containing JBrowse link 15 99,470,084 99,474,730 RGD:8554872
G Bsn bassoon JBrowse link 9 108,096,022 108,190,419 RGD:8554872
G Cdh11 cadherin 11 JBrowse link 8 102,632,095 102,785,983 RGD:8554872
G Defb10 defensin beta 10 JBrowse link 8 21,858,901 21,862,011 RGD:8554872
G Ebf3 early B cell factor 3 JBrowse link 7 137,193,671 137,322,777 RGD:8554872
G Fam71a family with sequence similarity 71, member A JBrowse link 1 191,162,584 191,164,817 RGD:8554872
G Hecw2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 53,806,872 54,195,034 RGD:8554872
G Hspb7 heat shock protein family, member 7 (cardiovascular) JBrowse link 4 141,420,779 141,425,310 RGD:8554872
G Ints6l integrator complex subunit 6 like JBrowse link X 56,454,825 56,507,843 RGD:8554872
G Kbtbd7 kelch repeat and BTB (POZ) domain containing 7 JBrowse link 14 79,426,511 79,431,039 RGD:8554872
G Kdm6b KDM1 lysine (K)-specific demethylase 6B JBrowse link 11 69,398,508 69,418,147 RGD:8554872
G Mrpl28 mitochondrial ribosomal protein L28 JBrowse link 17 26,123,503 26,126,613 RGD:8554872
G Plcb2 phospholipase C, beta 2 JBrowse link 2 118,705,003 118,728,662 RGD:8554872
G Ptch2 patched 2 JBrowse link 4 117,095,780 117,116,101 RGD:8554872
G Sim1 single-minded family bHLH transcription factor 1 JBrowse link 10 50,894,672 50,989,156 RGD:8554872
G Zfp787 zinc finger protein 787 JBrowse link 7 6,131,489 6,159,550 RGD:8554872
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itga2b integrin alpha 2b JBrowse link 11 102,453,297 102,469,883 RGD:8554872
G Itgb3 integrin beta 3 JBrowse link 11 104,608,000 104,670,476 RGD:11554173
RGD:8554872
neonatal anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptb spectrin beta, erythrocytic JBrowse link 12 76,580,488 76,710,547 RGD:11554173
neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:8554872
G Gck glucokinase JBrowse link 11 5,900,816 5,950,081 RGD:8554872
G Ins2 insulin II JBrowse link 7 142,678,656 142,679,726 RGD:8554872
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:8554872
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link 5 147,270,131 147,275,149 RGD:8554872
G Th tyrosine hydroxylase JBrowse link 7 142,892,776 142,899,966 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 19 28,258,851 28,680,265 RGD:7240710
RGD:13592920
RGD:8554872
Neonatal Hyperbilirubinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pdx glucose-6-phosphate dehydrogenase X-linked JBrowse link X 74,409,486 74,429,161 RGD:10449110
G Hmox1 heme oxygenase 1 JBrowse link 8 75,093,618 75,100,593 RGD:4145302
G Ikbkb inhibitor of kappaB kinase beta JBrowse link 8 22,659,205 22,706,591 RGD:11554173
G Ncor1 nuclear receptor co-repressor 1 JBrowse link 11 62,315,663 62,458,703 RGD:11554173
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 JBrowse link 1 88,211,959 88,220,002 RGD:10769330
RGD:11554173
Neonatal Inflammatory Skin and Bowel Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 a disintegrin and metallopeptidase domain 17 JBrowse link 12 21,323,509 21,373,632 RGD:8554872
Neonatal Inflammatory Skin and Bowel Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam17 a disintegrin and metallopeptidase domain 17 JBrowse link 12 21,323,509 21,373,632 RGD:8554872
RGD:7240710
G Iah1 isoamyl acetate-hydrolyzing esterase 1 homolog JBrowse link 12 21,316,361 21,323,607 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 11 16,752,203 16,913,907 RGD:8554872
RGD:7240710
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pdx glucose-6-phosphate dehydrogenase X-linked JBrowse link X 74,409,486 74,429,161 RGD:10449116
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 JBrowse link 16 38,248,321 38,294,849 RGD:11554173
Neonatal Pulmonary Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthetase 1 JBrowse link 1 67,122,426 67,231,267 RGD:7240710
RGD:8554872
Nesidioblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:8554872
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:8554872
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg4 desmoglein 4 JBrowse link 18 20,436,175 20,471,821 RGD:13592920
G Gba glucosidase, beta, acid JBrowse link 3 89,202,914 89,208,966 RGD:5508433
G Spink5 serine peptidase inhibitor, Kazal type 5 JBrowse link 18 43,959,545 44,022,487 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
G St14 suppression of tumorigenicity 14 (colon carcinoma) JBrowse link 9 31,088,590 31,131,882 RGD:11554173
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phgdh 3-phosphoglycerate dehydrogenase JBrowse link 3 98,313,171 98,339,969 RGD:7240710
RGD:8554872
G Psat1 phosphoserine aminotransferase 1 JBrowse link 19 15,905,123 15,925,059 RGD:11554173
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd5 abhydrolase domain containing 5 JBrowse link 9 122,351,539 122,381,524 RGD:7240710
RGD:8554872
RGD:13592920
G Ano10 anoctamin 10 JBrowse link 9 122,175,874 122,294,448 RGD:8554872
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 7 141,455,188 141,460,743 RGD:7240710
RGD:8554872
newborn respiratory distress syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 2 103,453,904 103,485,153 RGD:8655661
G Epas1 endothelial PAS domain protein 1 JBrowse link 17 86,753,864 86,833,410 RGD:13592920
G Hmox1 heme oxygenase 1 JBrowse link 8 75,093,618 75,100,593 RGD:4145353
G Icam1 intercellular adhesion molecule 1 JBrowse link 9 21,015,960 21,028,797 RGD:4145440
RGD:4145493
G Mbl2 mannose-binding lectin (protein C) 2 JBrowse link 19 30,232,906 30,239,686 RGD:12910849
G Megf10 multiple EGF-like-domains 10 JBrowse link 18 57,133,090 57,297,467 RGD:11554173
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) JBrowse link 10 75,859,353 75,860,250 RGD:4891007
G Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 JBrowse link 18 60,684,494 60,748,660 RGD:13592920
G Npsr1 neuropeptide S receptor 1 JBrowse link 9 24,097,950 24,317,590 RGD:4891932
G Sftpa1 surfactant associated protein A1 JBrowse link 14 41,131,788 41,136,373 RGD:4143433
RGD:4143428
G Sftpb surfactant associated protein B JBrowse link 6 72,304,610 72,314,373 RGD:4143416
RGD:4143455
RGD:4143433
RGD:4143428
RGD:4143418
RGD:4143376
G Sftpc surfactant associated protein C JBrowse link 14 70,520,941 70,524,081 RGD:4143428
RGD:4144127
G Sftpd surfactant associated protein D JBrowse link 14 41,172,212 41,185,198 RGD:4143428
RGD:4143507
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,742 90,226,324 RGD:8655661
G Tnnt2 troponin T2, cardiac JBrowse link 1 135,836,315 135,852,268 RGD:11554173
G Vegfa vascular endothelial growth factor A JBrowse link 17 46,016,993 46,032,377 RGD:13592920
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn1 claudin 1 JBrowse link 16 26,356,645 26,371,839 RGD:7240710
RGD:11341732
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 50,892,645 50,943,619 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 152,781,921 152,808,651 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 2 105,668,896 105,698,410 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 2 3,424,062 3,474,211 RGD:7240710
RGD:8554872
G Rag1 recombination activating gene 1 JBrowse link 2 101,638,252 101,649,532 RGD:7240710
RGD:8554872
G Rag2 recombination activating gene 2 JBrowse link 2 101,624,748 101,632,528 RGD:1599403
RGD:13592920
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 16 23,146,536 23,157,968 RGD:7394795
G Amigo2 adhesion molecule with Ig like domain 2 JBrowse link 15 97,244,074 97,247,287 RGD:14392781
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:8548878
RGD:11526145
G Csnk2a1 casein kinase 2, alpha 1 polypeptide JBrowse link 2 152,226,838 152,281,856 RGD:11565123
G Csnk2a2 casein kinase 2, alpha prime polypeptide JBrowse link 8 95,446,096 95,489,069 RGD:11565123
G Csnk2b casein kinase 2, beta polypeptide JBrowse link 17 35,116,195 35,122,053 RGD:11565123
G Fas Fas (TNF receptor superfamily member 6) JBrowse link 19 34,290,659 34,327,775 RGD:12903974
G Fasl Fas ligand (TNF superfamily, member 6) JBrowse link 1 161,780,691 161,788,495 RGD:12903974
G Ghrl ghrelin JBrowse link 6 113,716,119 113,719,911 RGD:12904963
G Ghsr growth hormone secretagogue receptor JBrowse link 3 27,371,311 27,379,225 RGD:12904963
G Hif1a hypoxia inducible factor 1, alpha subunit JBrowse link 12 73,901,324 73,947,554 RGD:8695923
RGD:9068455
G Hmgb1 high mobility group box 1 JBrowse link 5 149,046,702 149,053,057 RGD:10402057
G Igf1 insulin-like growth factor 1 JBrowse link 10 87,858,265 87,937,047 RGD:12910457
G Kdr kinase insert domain protein receptor JBrowse link 5 75,933,265 75,979,074 RGD:8549715
RGD:1581593
G Mapk8 mitogen-activated protein kinase 8 JBrowse link 14 33,377,898 33,447,212 RGD:10412674
G Ndp Norrie disease (pseudoglioma) (human) JBrowse link X 16,885,521 16,911,774 RGD:8694208
G Pparg peroxisome proliferator activated receptor gamma JBrowse link 6 115,360,877 115,490,404 RGD:2301844
G Ptafr platelet-activating factor receptor JBrowse link 4 132,564,067 132,582,683 RGD:10041062
G Ptger3 prostaglandin E receptor 3 (subtype EP3) JBrowse link 3 157,566,816 157,644,758 RGD:9850261
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 JBrowse link 5 137,061,504 137,072,272 RGD:8547749
RGD:13208592
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 JBrowse link 11 75,410,029 75,422,623 RGD:8554878
RGD:8655544
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,742 90,226,324 RGD:8655606
G Stat3 signal transducer and activator of transcription 3 JBrowse link 11 100,886,806 100,939,579 RGD:8694296
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:7394799
RGD:7394795
G Vegfa vascular endothelial growth factor A JBrowse link 17 46,016,993 46,032,377 RGD:7483624
periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 12 117,877,982 118,199,043 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 82,475,123 82,585,637 RGD:7327203
G Mcoln1 mucolipin 1 JBrowse link 8 3,500,519 3,515,232 RGD:8554872
G Parp1 poly (ADP-ribose) polymerase family, member 1 JBrowse link 1 180,568,975 180,601,254 RGD:5683904
G Rps6kc1 ribosomal protein S6 kinase polypeptide 1 JBrowse link 1 190,772,879 190,912,140 RGD:8554872
G Tmco1 transmembrane and coiled-coil domains 1 JBrowse link 1 167,308,670 167,333,978 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 17 35,199,367 35,202,007 RGD:1580604
RGD:12904655
permanent neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:7240710
RGD:8554872
G Gck glucokinase JBrowse link 11 5,900,816 5,950,081 RGD:7240710
RGD:8554872
G Ins2 insulin II JBrowse link 7 142,678,656 142,679,726 RGD:8554872
RGD:13592920
RGD:7240710
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:7240710
RGD:8554872
RGD:13592920
RGD:12743642
RGD:11067932
G Pdx1 pancreatic and duodenal homeobox 1 JBrowse link 5 147,270,131 147,275,149 RGD:11554173
RGD:8554872
G Ptf1a pancreas specific transcription factor, 1a JBrowse link 2 19,445,663 19,447,501 RGD:8554872
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas specific transcription factor, 1a JBrowse link 2 19,445,663 19,447,501 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, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:8554872
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:8554872
persistent fetal circulation syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthetase 1 JBrowse link 1 67,122,426 67,231,267 RGD:1600716
RGD:11554173
G Foxf1 forkhead box F1 JBrowse link 8 121,084,386 121,088,154 RGD:7240710
RGD:8554872
G Nos3 nitric oxide synthase 3, endothelial cell JBrowse link 5 24,364,819 24,384,474 RGD:13592920
G Pten phosphatase and tensin homolog JBrowse link 19 32,757,577 32,826,160 RGD:13592920
G Stra6 stimulated by retinoic acid gene 6 JBrowse link 9 58,063,793 58,154,004 RGD:11554173
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 JBrowse link 7 19,382,039 19,395,692 RGD:7240710
RGD:8554872
G Gtf2h5 general transcription factor IIH, polypeptide 5 JBrowse link 17 6,079,828 6,085,488 RGD:7246919
RGD:8554872
G Mplkip M-phase specific PLK1 intereacting protein JBrowse link 13 17,695,413 17,699,105 RGD:8554872
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen, type II, alpha 1 JBrowse link 15 97,975,602 98,004,724 RGD:7240710
RGD:11667102
RGD:8554872
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itgb3 integrin beta 3 JBrowse link 11 104,608,000 104,670,476 RGD:7240710
RGD:8554872
Premature Infant Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 JBrowse link 11 105,967,945 105,989,964 RGD:11554173
Prenatal Cortical Hyperostosis, Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen, type I, alpha 1 JBrowse link 11 94,936,224 94,953,042 RGD:8554872
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ protein-like 4 JBrowse link 15 76,703,553 76,710,638 RGD:7240710
RGD:8554872
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag2 recombination activating gene 2 JBrowse link 2 101,624,748 101,632,528 RGD:8554872
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link 4 128,993,224 129,011,529 RGD:7240710
RGD:8554872
RGD:11100026
Reticular Erythrokeratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krt1 keratin 1 JBrowse link 15 101,845,426 101,850,786 RGD:8554872
G Krt10 keratin 10 JBrowse link 11 99,385,254 99,389,699 RGD:7240710
RGD:8554872
retinopathy of prematurity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adrb3 adrenergic receptor, beta 3 JBrowse link 8 27,225,776 27,230,807 RGD:5684355
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) JBrowse link 8 124,556,587 124,569,707 RGD:11554173
G Angpt2 angiopoietin 2 JBrowse link 8 18,690,263 18,741,562 RGD:2314207
RGD:2314205
G Epo erythropoietin JBrowse link 5 137,483,020 137,485,816 RGD:11041658
G Epor erythropoietin receptor JBrowse link 9 21,958,897 21,963,576 RGD:11041658
G Flt1 FMS-like tyrosine kinase 1 JBrowse link 5 147,562,196 147,726,005 RGD:5684426
G Fzd4 frizzled class receptor 4 JBrowse link 7 89,404,366 89,410,110 RGD:8554872
G H2-Eb1 histocompatibility 2, class II antigen E beta JBrowse link 17 34,305,867 34,316,674 RGD:7365093
G H2-Q4 histocompatibility 2, Q region locus 4 JBrowse link 17 35,379,617 35,384,674 RGD:7365093
G Hgf hepatocyte growth factor JBrowse link 5 16,553,495 16,619,439 RGD:8548546
G Icam1 intercellular adhesion molecule 1 JBrowse link 9 21,015,960 21,028,797 RGD:4145427
G Igf1 insulin-like growth factor 1 JBrowse link 10 87,858,265 87,937,047 RGD:8548825
RGD:8548867
RGD:8548852
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 11 7,206,086 7,214,081 RGD:12743584
G Ihh Indian hedgehog JBrowse link 1 74,945,315 74,951,672 RGD:12910978
G Il10 interleukin 10 JBrowse link 1 131,019,845 131,024,970 RGD:7364863
G Il1b interleukin 1 beta JBrowse link 2 129,363,842 129,371,170 RGD:7204128
G Kdr kinase insert domain protein receptor JBrowse link 5 75,933,265 75,979,074 RGD:5684426
RGD:8549753
RGD:8549746
G Ndp Norrie disease (pseudoglioma) (human) JBrowse link X 16,885,521 16,911,774 RGD:8694210
G Nos1 nitric oxide synthase 1, neuronal JBrowse link 5 117,780,987 117,958,840 RGD:7257667
G Nos2 nitric oxide synthase 2, inducible JBrowse link 11 78,920,787 78,960,232 RGD:7257667
G Nos3 nitric oxide synthase 3, endothelial cell JBrowse link 5 24,364,819 24,384,474 RGD:7771560
G Prss23 protease, serine 23 JBrowse link 7 89,507,785 89,527,238 RGD:8554872
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 JBrowse link 5 137,061,504 137,072,272 RGD:8547810
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 JBrowse link 11 75,410,029 75,422,623 RGD:8655555
G Sod1 superoxide dismutase 1, soluble JBrowse link 16 90,220,742 90,226,324 RGD:8655635
G Vegfa vascular endothelial growth factor A JBrowse link 17 46,016,993 46,032,377 RGD:8548546
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ protein-like 4 JBrowse link 15 76,703,553 76,710,638 RGD:1599421
RGD:8554872
RGD:13592920
RGD:11554173
RGD:7240710
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 2 163,726,571 163,750,239 RGD:1300353
RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 4 128,993,224 129,011,529 RGD:11554173
G B230118H07Rik RIKEN cDNA B230118H07 gene JBrowse link 2 101,560,781 101,629,332 RGD:8554872
G Cd247 CD247 antigen JBrowse link 1 165,779,942 165,871,153 RGD:8554872
G Cd3d CD3 antigen, delta polypeptide JBrowse link 9 44,981,769 44,987,052 RGD:8554872
RGD:11554173
RGD:1549420
G Cd3e CD3 antigen, epsilon polypeptide JBrowse link 9 44,998,735 45,009,664 RGD:8554872
RGD:11554173
G Cd3g CD3 antigen, gamma polypeptide JBrowse link 9 44,969,572 44,980,431 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 2 3,424,062 3,474,211 RGD:1601049
RGD:8554872
G Epo erythropoietin JBrowse link 5 137,483,020 137,485,816 RGD:2313831
G Il2 interleukin 2 JBrowse link 3 37,120,713 37,125,954 RGD:1600060
G Il2rg interleukin 2 receptor, gamma chain JBrowse link X 101,264,385 101,268,255 RGD:1600009
RGD:8554872
G Il7r interleukin 7 receptor JBrowse link 15 9,506,159 9,529,935 RGD:1600151
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 RGD:8554872
RGD:11554173
RGD:11531109
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta JBrowse link 14 54,970,684 54,994,549 RGD:8554872
G Myoc myocilin JBrowse link 1 162,639,150 162,649,694 RGD:8554872
G Prkdc protein kinase, DNA activated, catalytic polypeptide JBrowse link 16 15,637,443 15,842,252 RGD:1599202
RGD:8696027
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 1 138,062,859 138,175,756 RGD:1599983
G Rac2 Rac family small GTPase 2 JBrowse link 15 78,559,169 78,572,783 RGD:8554872
G Rag1 recombination activating gene 1 JBrowse link 2 101,638,252 101,649,532 RGD:1599402
RGD:8554872
RGD:7204131
RGD:1599403
G Rag2 recombination activating gene 2 JBrowse link 2 101,624,748 101,632,528 RGD:1599402
RGD:8554872
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) JBrowse link 3 94,953,068 94,961,561 RGD:1599743
RGD:1599742
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 8 70,130,806 70,139,197 RGD:1599746
G Tapbp TAP binding protein JBrowse link 17 33,919,478 33,929,290 RGD:1599296
G Tfrc transferrin receptor JBrowse link 16 32,608,896 32,632,794 RGD:11554173
G Zap70 zeta-chain (TCR) associated protein kinase JBrowse link 1 36,761,798 36,782,821 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 1 74,967,346 75,125,226 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 2 3,424,062 3,474,211 RGD:7240710
RGD:8554872
RGD:13592920
G Lig4 ligase IV, DNA, ATP-dependent JBrowse link 8 9,970,020 9,977,681 RGD:8554872
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta-chain (TCR) associated protein kinase JBrowse link 1 36,761,798 36,782,821 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 8 71,676,383 71,690,577 RGD:8554872
G Prkdc protein kinase, DNA activated, catalytic polypeptide JBrowse link 16 15,637,443 15,842,252 RGD:13592920
G Rag1 recombination activating gene 1 JBrowse link 2 101,638,252 101,649,532 RGD:7240710
RGD:8554872
G Rag2 recombination activating gene 2 JBrowse link 2 101,624,748 101,632,528 RGD:7240710
RGD:8554872
RGD:13592920
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 8 71,676,383 71,690,577 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 CD3 antigen, delta polypeptide JBrowse link 9 44,981,769 44,987,052 RGD:8554872
G Coro1a coronin, actin binding protein 1A JBrowse link 7 126,699,774 126,704,816 RGD:13592920
G Il7r interleukin 7 receptor JBrowse link 15 9,506,159 9,529,935 RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 RGD:13592920
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 1 138,062,859 138,175,756 RGD:7240710
RGD:8554872
Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh3a2 aldehyde dehydrogenase family 3, subfamily A2 JBrowse link 11 61,224,486 61,267,523 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 4 148,448,582 148,557,685 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 12 24,974,876 25,063,152 RGD:8554872
RGD:7240710
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 7 102,261,514 102,437,319 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 11 78,357,577 78,387,654 RGD:7240710
RGD:8554872
RGD:13592920
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stk4 serine/threonine kinase 4 JBrowse link 2 164,074,113 164,155,521 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 5 33,721,724 33,737,068 RGD:2289863
RGD:13592920
RGD:8554872
RGD:12910972
RGD:11568030
RGD:11554173
G Hspg2 perlecan (heparan sulfate proteoglycan 2) JBrowse link 4 137,468,764 137,570,630 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 5 33,721,724 33,737,068 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 5 33,721,724 33,737,068 RGD:8554872
RGD:7240710
transient neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:8554872
RGD:13592920
G Gck glucokinase JBrowse link 11 5,900,816 5,950,081 RGD:8554872
G Hymai hydatidiform mole associated and imprinted transcript JBrowse link 10 13,090,845 13,095,900 RGD:13592920
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:8554872
RGD:13592920
G Zfp57 zinc finger protein 57 JBrowse link 17 37,001,163 37,010,729 RGD:8554872
RGD:13592920
Transient Neonatal Diabetes Mellitus, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hymai hydatidiform mole associated and imprinted transcript JBrowse link 10 13,090,845 13,095,900 RGD:11554173
G Zfp57 zinc finger protein 57 JBrowse link 17 37,001,163 37,010,729 RGD:7240710
RGD:8554872
Transient Neonatal Diabetes Mellitus, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 JBrowse link 7 46,104,523 46,180,039 RGD:7240710
RGD:8554872
Transient Neonatal Diabetes Mellitus, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 JBrowse link 7 46,097,123 46,100,867 RGD:7240710
RGD:8554872
twin-to-twin transfusion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 5 90,460,870 90,476,602 RGD:11035270
umbilical hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 JBrowse link 7 63,098,692 63,212,526 RGD:11554173
G Fgfr1 fibroblast growth factor receptor 1 JBrowse link 8 25,513,623 25,575,718 RGD:11567270
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 7 130,162,451 130,266,944 RGD:11567270
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 19 17,432,314 17,837,632 RGD:11554173
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 4 147,909,753 147,936,776 RGD:8554872
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma carboxyglutamate protein JBrowse link 3 88,383,495 88,384,466 RGD:6483568
G Ggcx gamma-glutamyl carboxylase JBrowse link 6 72,414,286 72,431,106 RGD:11040513
Wolman disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipa lysosomal acid lipase A JBrowse link 19 34,492,316 34,527,474 RGD:1600620
RGD:8554872
RGD:1600621
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 low density lipoprotein receptor-related protein 5 JBrowse link 19 3,584,825 3,686,564 RGD:7240710
RGD:8554872
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pudp pseudouridine 5-phosphatase JBrowse link 18 50,567,656 50,568,699 RGD:8554872
G Sts steroid sulfatase RGD:7240710
RGD:11554173
RGD:8554872
X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il2rg interleukin 2 receptor, gamma chain JBrowse link X 101,264,385 101,268,255 RGD:8554872
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 11 62,458,460 62,513,900 RGD:7240710
RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 11668
    Developmental Diseases 7382
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6408
        Infant, Newborn, Diseases 396
          Amniotic Band Syndrome + 0
          Birth Injuries + 1
          Caffey disease + 5
          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 + 19
          Neonatal Alloimmune Thrombocytopenia 2
          Neonatal Hyperbilirubinemia + 16
          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 + 93
          Rothmund-Thomson syndrome + 1
          Sclerema Neonatorum 0
          Wolman disease + 1
          asphyxia neonatorum + 15
          benign neonatal seizures + 11
          congenital nystagmus + 8
          congenital syphilis + 0
          congenital toxoplasmosis 0
          cystic fibrosis + 90
          fetal erythroblastosis + 25
          hydrophthalmos + 7
          ichthyosis + 53
          meconium aspiration syndrome 4
          neonatal abstinence syndrome 0
          neonatal anemia + 2
          neonatal diabetes mellitus + 10
          ophthalmia neonatorum 0
          persistent fetal circulation syndrome 5
          severe combined immunodeficiency + 49
          thanatophoric dysplasia + 3
          transient neonatal thrombocytopenia 0
          umbilical hernia + 11
          vitamin K deficiency bleeding 2
paths to the root