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ONTOLOGY REPORT - ANNOTATIONS


Term:Infant, Newborn, Diseases
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Accession:DOID:9003548 term browser browse the term
Definition:Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts.
Synonyms:exact_synonym: Neonatal Disease;   Neonatal Diseases
 primary_id: MESH:D007232;   RDO:0004815
For additional species annotation, visit the Alliance of Genome Resources.


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Infant, Newborn, Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FKBP5 FKBP prolyl isomerase 5 JBrowse link 6 35,573,585 35,728,583 RGD:11554173
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:11554173
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA adenosine deaminase JBrowse link 20 44,619,519 44,651,758 RGD:8554872
RGD:7240710
G BRCA1 BRCA1 DNA repair associated JBrowse link 17 43,044,295 43,125,483 RGD:8554872
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,637,684 10,674,046 RGD:8554872
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 RGD:8554872
asphyxia neonatorum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:11554173
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 50,184,096 50,201,649 RGD:8554872
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:2302855
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2 127,257,290 127,294,176 RGD:2302855
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,796 109,693,745 RGD:12792218
G HTRA2 HtrA serine peptidase 2 JBrowse link 2 74,529,405 74,533,556 RGD:10402931
G MAP2 microtubule associated protein 2 JBrowse link 2 209,424,047 209,734,118 RGD:6483085
G PDIA3 protein disulfide isomerase family A member 3 JBrowse link 15 43,746,392 43,772,606 RGD:9999183
G PSEN1 presenilin 1 JBrowse link 14 73,136,435 73,223,691 RGD:11554173
G PSEN2 presenilin 2 JBrowse link 1 226,870,572 226,903,829 RGD:11554173
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 186,671,812 186,680,427 RGD:11554173
G S100B S100 calcium binding protein B JBrowse link 21 46,598,618 46,605,243 RGD:5508819
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:11554173
G SOD2 superoxide dismutase 2 JBrowse link 6 159,679,064 159,762,529 RGD:11554173
G XRCC1 X-ray repair cross complementing 1 JBrowse link 19 43,543,312 43,575,578 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 13 20,187,463 20,192,975 RGD:7364809
RGD:8554872
RGD:7240710
RGD:7364889
RGD:7364885
RGD:7364813
RGD:7364811
autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2 214,931,542 215,138,591 RGD:8554872
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 8,072,636 8,087,703 RGD:8554872
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 8,095,900 8,118,916 RGD:8554872
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 19 15,508,487 15,552,317 RGD:8554872
G EBP EBP cholestenol delta-isomerase JBrowse link X 48,521,776 48,528,716 RGD:2316868
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:1601069
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 157,460,019 157,474,722 RGD:8554872
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,830,967 152,869,363 RGD:2316868
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 6 36,242,523 36,313,955 RGD:8554872
G TGM1 transglutaminase 1 JBrowse link 14 24,249,114 24,263,210 RGD:8554872
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 2 214,931,542 215,138,591 RGD:1598548
RGD:11554173
G ABHD5 abhydrolase domain containing 5 JBrowse link 3 43,690,870 43,734,371 RGD:1598668
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 8,072,636 8,087,703 RGD:11554173
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 8,095,900 8,118,916 RGD:1599073
RGD:8554872
RGD:11554173
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 48,552,172 48,599,427 RGD:8554872
G TGM1 transglutaminase 1 JBrowse link 14 24,249,114 24,263,210 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 6 36,242,523 36,313,955 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ST14 suppression of tumorigenicity 14 JBrowse link 11 130,159,787 130,210,362 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 19 15,049,480 15,058,293 RGD:8554872
RGD:7240710
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 12 56,923,154 56,934,405 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 2B member 1 JBrowse link 19 48,552,172 48,599,427 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 17 8,072,636 8,087,703 RGD:8554872
RGD:7240710
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 48,552,172 48,599,427 RGD:8554872
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 8,095,900 8,118,916 RGD:8554872
RGD:7240710
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,002,670 8,020,340 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 2 214,931,542 215,138,591 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2 214,931,542 215,138,591 RGD:8554872
RGD:7240710
G CST6 cystatin E/M JBrowse link 11 66,011,991 66,013,505 RGD:13592920
G PRSS8 serine protease 8 JBrowse link 16 31,131,433 31,135,762 RGD:13592920
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 19 15,508,487 15,552,317 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 157,460,019 157,474,722 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPN lipase family member N JBrowse link 10 88,757,226 88,783,662 RGD:8554872
RGD:7240710
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERS3 ceramide synthase 3 JBrowse link 15 100,400,395 100,544,982 RGD:8554872
RGD:7240710
autosomal recessive distal spinal muscular atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HCG4B HLA complex group 4B JBrowse link 6 29,924,592 29,927,215 RGD:8554872
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 11 68,903,851 68,940,601 RGD:737748
RGD:8554872
RGD:7240710
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,508,379 89,557,768 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 3 195,863,364 195,909,009 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXC1 forkhead box C1 JBrowse link 6 1,610,446 1,613,897 RGD:11554173
G HMGN2 high mobility group nucleosomal binding domain 2 JBrowse link 1 26,472,411 26,476,642 RGD:13592920
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:11554173
G PITX2 paired like homeodomain 2 JBrowse link 4 110,617,423 110,642,123 RGD:8554872
RGD:11554173
RGD:7240710
G PRDM5 PR/SET domain 5 JBrowse link 4 120,684,906 120,922,866 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 16 29,812,088 29,815,920 RGD:8554872
RGD:7240710
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 2 165,208,056 165,392,310 RGD:13207596
RGD:8554872
RGD:7240710
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 12 51,589,958 51,812,864 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 20 63,400,208 63,472,677 RGD:8554872
RGD:7240710
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,677 RGD:8554872
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 132,120,858 132,480,757 RGD:9686418
RGD:8554872
RGD:7240710
RGD:9686433
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 20 63,400,208 63,472,677 RGD:8554872
benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 JBrowse link 5 126,541,841 126,595,390 RGD:8554872
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 1 160,115,730 160,143,591 RGD:1358436
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 63,400,208 63,472,677 RGD:11554173
RGD:8554872
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 132,120,858 132,480,757 RGD:8554872
RGD:13592920
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,305 89,334,795 RGD:8554872
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 2 165,208,056 165,392,310 RGD:8554872
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 2 165,087,520 165,204,295 RGD:8554872
Birth Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCR5 C-C motif chemokine receptor 5 (gene/pseudogene) JBrowse link 3 46,370,142 46,376,206 RGD:4890426
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-1 NK2 homeobox 1 JBrowse link 14 36,516,397 36,520,225 RGD:12914768
RGD:8554872
RGD:7240710
RGD:12914770
RGD:11073166
RGD:12914769
G NKX2-1-AS1 NKX2-1 antisense RNA 1 JBrowse link 14 36,519,278 36,523,016 RGD:8554872
G SFTA3 surfactant associated 3 JBrowse link 14 36,473,288 36,519,521 RGD:8554872
Bronchopulmonary Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 48,954,825 48,961,798 RGD:11537057
G BID BH3 interacting domain death agonist JBrowse link 22 17,734,140 17,774,665 RGD:11537057
G CASP3 caspase 3 JBrowse link 4 184,627,696 184,649,475 RGD:11537057
G CASP8 caspase 8 JBrowse link 2 201,233,443 201,287,711 RGD:11537057
G CASP9 caspase 9 JBrowse link 1 15,491,401 15,524,912 RGD:11537057
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:5130750
G CCL7 C-C motif chemokine ligand 7 JBrowse link 17 34,270,216 34,272,242 RGD:5130981
G CD209 CD209 molecule JBrowse link 19 7,739,993 7,747,609 RGD:5131185
G CHI3L1 chitinase 3 like 1 JBrowse link 1 203,178,931 203,186,794 RGD:4892651
G CXCL1 C-X-C motif chemokine ligand 1 JBrowse link 4 73,869,392 73,871,302 RGD:5134972
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:11537474
G EDN1 endothelin 1 JBrowse link 6 12,256,463 12,297,194 RGD:4144841
G EPAS1 endothelial PAS domain protein 1 JBrowse link 2 46,297,402 46,386,703 RGD:10395385
G FLT1 fms related tyrosine kinase 1 JBrowse link 13 28,300,346 28,495,128 RGD:10402122
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,796 109,693,745 RGD:12792215
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 67,583,595 67,586,653 RGD:4142520
G GSTT1 glutathione S-transferase theta 1 RGD:12792215
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 61,695,401 61,748,259 RGD:10395385
RGD:11537057
G IL1B interleukin 1 beta JBrowse link 2 112,829,758 112,836,843 RGD:4143172
RGD:11554173
G IL1RN interleukin 1 receptor antagonist JBrowse link 2 113,099,365 113,134,016 RGD:4143172
RGD:12910846
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:12910846
G MIF macrophage migration inhibitory factor JBrowse link 22 23,894,378 23,895,222 RGD:4891007
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:5129685
G MUC1 mucin 1, cell surface associated JBrowse link 1 155,185,824 155,192,915 RGD:5131170
G POSTN periostin JBrowse link 13 37,562,582 37,598,844 RGD:11554173
G SCGB1A1 secretoglobin family 1A member 1 JBrowse link 11 62,419,035 62,423,206 RGD:5144211
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,089 101,139,266 RGD:13208551
G SFTPA1 surfactant protein A1 JBrowse link 10 79,610,939 79,615,443 RGD:4143384
RGD:4144876
G SFTPB surfactant protein B JBrowse link 2 85,657,317 85,668,741 RGD:4143405
RGD:4143418
RGD:4143384
G SFTPD surfactant protein D JBrowse link 10 79,937,740 79,982,236 RGD:4143384
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:12904049
G TP53 tumor protein p53 JBrowse link 17 7,668,402 7,687,550 RGD:11537057
G TXN thioredoxin JBrowse link 9 110,243,812 110,256,640 RGD:11554173
G VDR vitamin D receptor JBrowse link 12 47,841,537 47,905,031 RGD:13432055
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
G KRT2 keratin 2 JBrowse link 12 52,644,558 52,652,175 RGD:8554872
RGD:7240710
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 JBrowse link 2 38,067,603 38,076,181 RGD:734869
RGD:8554872
RGD:7240710
RGD:7800719
RGD:7800711
RGD:7800689
RGD:7800688
RGD:7800680
RGD:7800670
RGD:7800657
G FOXC1 forkhead box C1 JBrowse link 6 1,610,446 1,613,897 RGD:13592920
G LTBP2 latent transforming growth factor beta binding protein 2 JBrowse link 14 74,498,183 74,612,593 RGD:8554872
G MYOC myocilin JBrowse link 1 171,635,417 171,652,633 RGD:8554872
G TYR tyrosinase JBrowse link 11 89,177,565 89,295,759 RGD:13592920
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4GALT alpha 1,4-galactosyltransferase (P blood group) JBrowse link 22 42,692,112 42,721,301 RGD:8554872
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 50,184,096 50,201,649 RGD:5688296
RGD:8554872
RGD:7240710
RGD:11667069
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,514,586 133,524,946 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 1 53,196,429 53,214,197 RGD:8554872
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 152,830,967 152,869,363 RGD:8554872
RGD:11554173
RGD:7240710
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERF ETS2 repressor factor JBrowse link 19 42,247,561 42,255,164 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 1 JBrowse link 11 36,510,366 36,579,762 RGD:8554872
RGD:7240710
G RAG2 recombination activating 2 JBrowse link 11 36,591,943 36,598,279 RGD:8554872
RGD:7240710
Congenital Hyperinsulinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,392,885 17,476,849 RGD:704365
RGD:8554872
RGD:11554173
RGD:12790723
RGD:11069847
RGD:12790596
RGD:11067821
RGD:12790587
RGD:11070657
RGD:12743628
G GCK glucokinase JBrowse link 7 44,143,213 44,189,439 RGD:11554173
G GLUD1 glutamate dehydrogenase 1 JBrowse link 10 87,050,202 87,095,047 RGD:1302513
G HADH hydroxyacyl-CoA dehydrogenase JBrowse link 4 107,989,714 108,035,175 RGD:2306664
G HNF4A hepatocyte nuclear factor 4 alpha JBrowse link 20 44,355,801 44,432,845 RGD:12904701
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:12743624
RGD:8554872
RGD:11554173
RGD:12790723
RGD:11069847
RGD:12790587
RGD:12743643
G KCNT2 potassium sodium-activated channel subfamily T member 2 JBrowse link 1 196,225,779 196,608,576 RGD:8554872
G TBC1D4 TBC1 domain family member 4 JBrowse link 13 75,284,664 75,483,144 RGD:7248544
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8554872
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 7 17,298,652 17,346,151 RGD:11554173
G ATF6 activating transcription factor 6 JBrowse link 1 161,766,244 161,964,070 RGD:11554173
G FRMD7 FERM domain containing 7 JBrowse link X 132,074,926 132,128,022 RGD:8554872
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,413 9,786,260 RGD:13592920
G MYO7A myosin VIIA JBrowse link 11 77,128,192 77,215,241 RGD:11537385
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:8552281
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDOA aldolase, fructose-bisphosphate A JBrowse link 16 30,053,090 30,070,420 RGD:8554872
G CORO1A coronin 1A JBrowse link 16 30,183,410 30,189,076 RGD:8554872
RGD:7240710
G DNM2 dynamin 2 JBrowse link 19 10,718,053 10,831,910 RGD:8554872
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 16 30,104,810 30,113,557 RGD:8554872
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 16 30,114,105 30,123,309 RGD:8554872
G PPP4C protein phosphatase 4 catalytic subunit JBrowse link 16 30,075,976 30,085,377 RGD:8554872
G RHOH ras homolog family member H JBrowse link 4 40,191,011 40,244,764 RGD:8554872
G TBX6 T-box 6 JBrowse link 16 30,085,793 30,091,927 RGD:8554872
G YPEL3 yippee like 3 JBrowse link 16 30,092,314 30,096,216 RGD:8554872
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:8554872
RGD:7240710
G KRT10 keratin 10 JBrowse link 17 40,818,117 40,822,621 RGD:7240710
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB1 adrenoceptor beta 1 JBrowse link 10 114,044,047 114,046,908 RGD:5129107
G ADRB2 adrenoceptor beta 2 JBrowse link 5 148,826,593 148,828,634 RGD:5129107
RGD:4145099
G ADRB3 adrenoceptor beta 3 JBrowse link 8 37,962,995 37,966,666 RGD:5129107
G AGER advanced glycosylation end-product specific receptor JBrowse link 6 32,180,968 32,184,380 RGD:6767553
RGD:8695959
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 156,241,962 156,243,332 RGD:6483578
G C5 complement C5 JBrowse link 9 120,952,335 121,075,174 RGD:5130162
G CCL11 C-C motif chemokine ligand 11 JBrowse link 17 34,285,668 34,288,180 RGD:4145455
G CCL17 C-C motif chemokine ligand 17 JBrowse link 16 57,396,076 57,416,063 RGD:4145491
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,277 34,257,203 RGD:4143275
G CCL4 C-C motif chemokine ligand 4 JBrowse link 17 36,103,827 36,105,621 RGD:5130907
RGD:5130902
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 46,210,699 46,266,706 RGD:4145632
G CD14 CD14 molecule JBrowse link 5 140,631,728 140,633,701 RGD:4144794
RGD:4144796
G CD40LG CD40 ligand JBrowse link X 136,648,177 136,660,390 RGD:7248443
G CFTR cystic fibrosis transmembrane conductance regulator JBrowse link 7 117,479,963 117,668,665 RGD:4140392
RGD:8554872
RGD:11554173
RGD:7240710
RGD:11566051
RGD:734772
RGD:4140401
RGD:4140436
RGD:4140394
RGD:4140438
RGD:4140450
RGD:4140442
RGD:4140393
RGD:4140481
RGD:4140429
RGD:4140435
RGD:4140464
RGD:4140439
RGD:4140428
RGD:4140465
RGD:4140440
RGD:4140422
RGD:4139910
G CFTR-AS1 CFTR antisense RNA 1 JBrowse link 7 117,542,521 117,564,676 RGD:8554872
G CLCA1 chloride channel accessory 1 JBrowse link 1 86,468,843 86,500,294 RGD:4145657
G CSF3R colony stimulating factor 3 receptor JBrowse link 1 36,466,043 36,483,314 RGD:5133738
G CXCL1 C-X-C motif chemokine ligand 1 JBrowse link 4 73,869,392 73,871,302 RGD:5135034
RGD:5135456
G CXCL2 C-X-C motif chemokine ligand 2 JBrowse link 4 74,097,035 74,099,280 RGD:5135034
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 4 73,740,506 73,743,716 RGD:5135034
G CXCL9 C-X-C motif chemokine ligand 9 JBrowse link 4 76,001,342 76,007,523 RGD:5135456
G CXCR2 C-X-C motif chemokine receptor 2 JBrowse link 2 218,125,290 218,137,253 RGD:5135034
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 71,615,913 71,618,517 RGD:4145632
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 JBrowse link 15 74,719,542 74,725,610 RGD:4889126
G DCTN4 dynactin subunit 4 JBrowse link 5 150,708,747 150,759,095 RGD:11554173
G DEFB4A defensin beta 4A JBrowse link 8 7,894,565 7,896,716 RGD:4892267
G EDN1 endothelin 1 JBrowse link 6 12,256,463 12,297,194 RGD:4145062
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,061 RGD:12903971
G FASLG Fas ligand JBrowse link 1 172,659,008 172,666,873 RGD:12904024
G FCGR2A Fc fragment of IgG receptor IIa JBrowse link 1 161,505,415 161,524,048 RGD:8554872
RGD:7240710
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 6 53,497,341 53,545,129 RGD:5134682
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 109,687,796 109,693,745 RGD:10401929
RGD:12798506
RGD:12792246
RGD:12792207
G GSTM3 glutathione S-transferase mu 3 JBrowse link 1 109,733,932 109,741,038 RGD:5135040
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 67,583,595 67,586,653 RGD:1331525
G GSTT1 glutathione S-transferase theta 1 RGD:12792207
RGD:12792246
RGD:10401929
G HAVCR2 hepatitis A virus cellular receptor 2 JBrowse link 5 157,085,832 157,109,237 RGD:5135530
G HLA-G major histocompatibility complex, class I, G JBrowse link 6 29,826,967 29,831,130 RGD:5144066
G HMOX1 heme oxygenase 1 JBrowse link 22 35,381,067 35,394,214 RGD:4145410
G HSPA1A heat shock protein family A (Hsp70) member 1A JBrowse link 6 31,815,514 31,817,942 RGD:6767553
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2 197,486,584 197,500,274 RGD:12910480
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:12904899
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:12743589
G IL13 interleukin 13 JBrowse link 5 132,656,524 132,661,109 RGD:4312589
G IL17A interleukin 17A JBrowse link 6 52,186,387 52,190,638 RGD:4889105
RGD:4889130
G IL18 interleukin 18 JBrowse link 11 112,143,251 112,164,117 RGD:4889551
G IL18BP interleukin 18 binding protein JBrowse link 11 71,997,944 72,002,919 RGD:4889551
G IL1A interleukin 1 alpha JBrowse link 2 112,773,915 112,785,398 RGD:4142849
G IL1B interleukin 1 beta JBrowse link 2 112,829,758 112,836,843 RGD:4142844
RGD:4143181
G IL1RN interleukin 1 receptor antagonist JBrowse link 2 113,099,365 113,134,016 RGD:4143181
RGD:4143175
G IL6 interleukin 6 JBrowse link 7 22,725,889 22,732,002 RGD:4143275
RGD:5128672
G IL9 interleukin 9 JBrowse link 5 135,892,246 135,895,827 RGD:5128699
G IL9R interleukin 9 receptor JBrowse link X
Y
155,997,581
57,184,101
156,013,017
57,199,537
RGD:5128699
G IRF1 interferon regulatory factor 1 JBrowse link 5 132,481,609 132,490,789 RGD:5128720
G LEP leptin JBrowse link 7 128,241,201 128,257,629 RGD:5128819
G LTA lymphotoxin alpha JBrowse link 6 31,560,550 31,574,324 RGD:6767553
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:4889447
RGD:4889443
G MIF macrophage migration inhibitory factor JBrowse link 22 23,894,378 23,895,222 RGD:4891053
G MMP9 matrix metallopeptidase 9 JBrowse link 20 46,008,908 46,016,561 RGD:5130723
RGD:13204794
G MPO myeloperoxidase JBrowse link 17 58,269,856 58,280,935 RGD:5130986
RGD:5130968
G MUC1 mucin 1, cell surface associated JBrowse link 1 155,185,824 155,192,915 RGD:5131272
G MUC2 mucin 2, oligomeric mucus/gel-forming JBrowse link 11 1,074,875 1,110,508 RGD:5131426
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming JBrowse link 11 1,157,953 1,201,138 RGD:5131191
G MUC5B mucin 5B, oligomeric mucus/gel-forming JBrowse link 11 1,223,065 1,262,176 RGD:5131194
RGD:5131191
G MUC6 mucin 6, oligomeric mucus/gel-forming JBrowse link 11 1,012,824 1,036,706 RGD:7364748
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2 206,123,079 206,159,519 RGD:6484688
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:5132865
RGD:5132627
RGD:5132868
G NOS2 nitric oxide synthase 2 JBrowse link 17 27,756,766 27,800,529 RGD:4891958
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,056 151,014,599 RGD:4892049
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 22 46,150,534 46,243,756 RGD:5683626
G PRSS1 serine protease 1 JBrowse link 7 142,740,235 142,753,076 RGD:1599967
G PTGDR2 prostaglandin D2 receptor 2 JBrowse link 11 60,850,925 60,855,971 RGD:5135022
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 186,671,812 186,680,427 RGD:5135298
RGD:5135523
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 12 6,346,843 6,377,357 RGD:11554173
G SCNN1B sodium channel epithelial 1 beta subunit JBrowse link 16 23,278,231 23,381,299 RGD:11554173
G SCNN1G sodium channel epithelial 1 gamma subunit JBrowse link 16 23,182,719 23,216,879 RGD:11554173
G SERPINA3 serpin family A member 3 JBrowse link 14 94,612,377 94,624,053 RGD:5147439
G SFTPA1 surfactant protein A1 JBrowse link 10 79,610,939 79,615,443 RGD:4143403
G SFTPB surfactant protein B JBrowse link 2 85,657,317 85,668,741 RGD:4143381
G SFTPC surfactant protein C JBrowse link 8 22,161,671 22,164,479 RGD:4143403
G SFTPD surfactant protein D JBrowse link 10 79,937,740 79,982,236 RGD:4143502
G TGFB1 transforming growth factor beta 1 JBrowse link 19 41,330,323 41,353,883 RGD:4145125
RGD:7240710
RGD:8554872
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 47,582,291 47,586,791 RGD:13204794
G TLR4 toll like receptor 4 JBrowse link 9 117,704,175 117,717,491 RGD:4144105
RGD:4144179
G TLR5 toll like receptor 5 JBrowse link 1 223,108,401 223,143,282 RGD:5129499
RGD:5129506
G TLR9 toll like receptor 9 JBrowse link 3 52,221,080 52,226,163 RGD:5130208
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:4142846
RGD:6767553
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,328,757 6,342,117 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 1 205,913,048 205,943,472 RGD:11554173
G SLC6A14 solute carrier family 6 member 14 JBrowse link X 116,436,579 116,461,458 RGD:11554173
G SLC9A3 solute carrier family 9 member A3 JBrowse link 5 471,986 524,434 RGD:11554173
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100289580 uncharacterized LOC100289580 JBrowse link 16 88,731,180 88,741,425 RGD:8554872
G PIEZO1 piezo type mechanosensitive ion channel component 1 JBrowse link 16 88,715,338 88,785,220 RGD:8554872
RGD:7240710
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:8554872
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC2 ATP binding cassette subfamily C member 2 JBrowse link 10 99,782,598 99,853,741 RGD:1598616
RGD:8554872
RGD:11554173
RGD:7240710
RGD:69812
G ABCC3 ATP binding cassette subfamily C member 3 JBrowse link 17 50,634,843 50,691,704 RGD:1598620
G RDX radixin JBrowse link 11 110,174,880 110,296,712 RGD:13592920
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:11554173
G GJB3 gap junction protein beta 3 JBrowse link 1 34,781,189 34,786,366 RGD:11554173
G GJB4 gap junction protein beta 4 JBrowse link 1 34,759,741 34,763,724 RGD:11554173
G JUP junction plakoglobin JBrowse link 17 41,754,607 41,786,768 RGD:13592920
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:1600166
RGD:7240710
RGD:8554872
G KRT10 keratin 10 JBrowse link 17 40,818,117 40,822,621 RGD:1600168
RGD:8554872
RGD:7240710
G TMEM99 transmembrane protein 99 JBrowse link 17 40,819,092 40,836,274 RGD:8554872
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:8554872
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,392,885 17,476,849 RGD:7240710
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,392,885 17,476,849 RGD:8554872
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 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 16 29,820,394 29,848,039 RGD:8554872
G PRRT2 proline rich transmembrane protein 2 JBrowse link 16 29,812,088 29,815,920 RGD:8554872
RGD:7240710
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERMAP erythroblast membrane associated protein (Scianna blood group) JBrowse link 1 42,817,105 42,844,989 RGD:8554872
G FCGR2A Fc fragment of IgG receptor IIa JBrowse link 1 161,505,415 161,524,048 RGD:11100009
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link 6 44,219,505 44,234,151 RGD:8554872
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 1 225,401,502 225,428,855 RGD:9588626
RGD:8554872
RGD:7240710
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 20,187,463 20,192,975 RGD:8554872
RGD:7240710
Hyaline Membrane Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,089 101,139,266 RGD:4144850
G SFTPC surfactant protein C JBrowse link 8 22,161,671 22,164,479 RGD:4143444
hydrophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 JBrowse link 2 38,067,603 38,076,181 RGD:1599716
G FLT1 fms related tyrosine kinase 1 JBrowse link 13 28,300,346 28,495,128 RGD:8549773
G KDR kinase insert domain receptor JBrowse link 4 55,078,481 55,125,595 RGD:8549773
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 73,404,239 73,421,484 RGD:11036098
G C1orf105 chromosome 1 open reading frame 105 JBrowse link 1 172,418,560 172,468,829 RGD:8554872
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 18 59,430,939 59,698,181 RGD:11554173
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 2 174,747,592 174,764,472 RGD:8554872
G CTSA cathepsin A JBrowse link 20 45,890,144 45,898,820 RGD:8554872
G DNAH14 dynein axonemal heavy chain 14 JBrowse link 1 224,928,422 225,399,294 RGD:8554872
G FCRL4 Fc receptor like 4 JBrowse link 1 157,573,749 157,598,080 RGD:8554872
G FZD6 frizzled class receptor 6 JBrowse link 8 103,298,433 103,332,866 RGD:8554872
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 2 30,888,518 31,138,726 RGD:8554872
G GUSB glucuronidase beta JBrowse link 7 65,960,684 65,982,314 RGD:8554872
G HBA2 hemoglobin subunit alpha 2 JBrowse link 16 172,847 173,710 RGD:8554872
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 RGD:8554872
G MYOM1 myomesin 1 JBrowse link 18 3,066,807 3,220,108 RGD:8554872
G NEB nebulin JBrowse link 2 151,485,334 151,734,487 RGD:8554872
G PIGC phosphatidylinositol glycan anchor biosynthesis class C JBrowse link 1 172,441,457 172,444,090 RGD:8554872
G SFTPA1 surfactant protein A1 JBrowse link 10 79,610,939 79,615,443 RGD:4143453
G THSD1 thrombospondin type 1 domain containing 1 JBrowse link 13 52,377,167 52,406,494 RGD:8554872
G UBN1 ubinuclein 1 JBrowse link 16 4,846,665 4,882,401 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 7 100,802,565 100,827,521 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 2, mitochondrial JBrowse link 3 45,388,564 45,548,842 RGD:8554872
RGD:7240710
RGD:11554173
G LARS2-AS1 LARS2 antisense RNA 1 JBrowse link 3 45,482,695 45,509,545 RGD:8554872
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UGT1A UDP glucuronosyltransferase family 1 member A complex locus JBrowse link 2 233,585,439 233,773,299 RGD:8554872
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 2 233,760,273 233,773,299 RGD:8554872
RGD:7240710
G UGT1A10 UDP glucuronosyltransferase family 1 member A10 JBrowse link 2 233,636,477 233,773,305 RGD:8554872
G UGT1A3 UDP glucuronosyltransferase family 1 member A3 JBrowse link 2 233,729,127 233,773,299 RGD:8554872
G UGT1A4 UDP glucuronosyltransferase family 1 member A4 JBrowse link 2 233,718,792 233,773,299 RGD:8554872
G UGT1A5 UDP glucuronosyltransferase family 1 member A5 JBrowse link 2 233,712,992 233,773,299 RGD:8554872
G UGT1A6 UDP glucuronosyltransferase family 1 member A6 JBrowse link 2 233,691,675 233,773,305 RGD:8554872
G UGT1A7 UDP glucuronosyltransferase family 1 member A7 JBrowse link 2 233,681,938 233,773,299 RGD:8554872
G UGT1A8 UDP glucuronosyltransferase family 1 member A8 JBrowse link 2 233,617,645 233,773,299 RGD:8554872
G UGT1A9 UDP glucuronosyltransferase family 1 member A9 JBrowse link 2 233,671,898 233,773,305 RGD:8554872
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 JBrowse link 20 54,145,731 54,174,032 RGD:8554872
RGD:7240710
G KL klotho JBrowse link 13 33,016,063 33,066,145 RGD:11554173
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 177,384,431 177,412,021 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 3 122,183,683 122,286,503 RGD:8554872
RGD:7240710
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 8,072,636 8,087,703 RGD:8554872
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 8,095,900 8,118,916 RGD:8554872
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 48,564,073 48,595,302 RGD:8554872
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 19 15,508,487 15,552,317 RGD:8554872
G FLG filaggrin JBrowse link 1 152,302,175 152,325,203 RGD:8554872
G GJB2 gap junction protein beta 2 JBrowse link 13 20,187,463 20,192,975 RGD:11554173
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:12743608
G IL2RB interleukin 2 receptor subunit beta JBrowse link 22 37,125,838 37,175,118 RGD:8554872
G KRT2 keratin 2 JBrowse link 12 52,644,558 52,652,175 RGD:1600192
G MDM2 MDM2 proto-oncogene JBrowse link 12 68,808,149 68,845,544 RGD:10412066
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 6 36,242,523 36,313,955 RGD:11554173
RGD:8554872
G SPINT1 serine peptidase inhibitor, Kunitz type 1 JBrowse link 15 40,844,043 40,857,655 RGD:10043094
G SUPV3L1 Suv3 like RNA helicase JBrowse link 10 69,180,204 69,209,098 RGD:11554173
G TGM1 transglutaminase 1 JBrowse link 14 24,249,114 24,263,210 RGD:8554872
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT2 keratin 2 JBrowse link 12 52,644,558 52,652,175 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 21,839,538 21,885,423 RGD:8554872
RGD:7240710
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 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 9 128,340,516 128,361,470 RGD:8554872
RGD:7240710
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 1 152,302,175 152,325,203 RGD:1598947
RGD:8554872
RGD:11554173
RGD:7240710
G FLG-AS1 FLG antisense RNA 1 JBrowse link 1 152,313,459 152,366,692 RGD:8554872
G LBR lamin B receptor JBrowse link 1 225,401,502 225,428,855 RGD:13592920
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 6 79,914,812 79,947,598 RGD:8554872
RGD:7240710
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ORAI1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 121,626,550 121,642,040 RGD:8554872
RGD:7240710
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 11 3,855,703 4,093,210 RGD:8554872
RGD:7240710
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 2 97,712,030 97,744,327 RGD:7240710
RGD:8554872
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXTL3 exostosin like glycosyltransferase 3 JBrowse link 8 28,607,736 28,753,690 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 member 1 JBrowse link 20 54,145,731 54,174,032 RGD:8554872
RGD:11554173
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 177,384,431 177,412,021 RGD:11554173
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 14 60,509,220 60,511,807 RGD:8554872
RGD:7240710
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 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 11 59,142,746 59,155,039 RGD:8554872
RGD:7240710
G TBCE tubulin folding cofactor E JBrowse link 1 235,367,360 235,448,968 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 1 235,367,360 235,448,968 RGD:8554872
RGD:7240710
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MBTPS2 membrane bound transcription factor peptidase, site 2 JBrowse link X 21,839,538 21,885,423 RGD:8554872
RGD:7240710
kernicterus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 2 233,760,273 233,773,299 RGD:11554173
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,965 48,006,212 RGD:8554872
RGD:11554173
RGD:7240710
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGT angiotensinogen JBrowse link 1 230,702,523 230,714,590 RGD:11039054
G AGTR2 angiotensin II receptor type 2 JBrowse link X 116,170,705 116,174,972 RGD:11039054
G ATF2 activating transcription factor 2 JBrowse link 2 175,072,250 175,168,206 RGD:13592920
G SCGB1A1 secretoglobin family 1A member 1 JBrowse link 11 62,419,035 62,423,206 RGD:5144123
Meconium Ileus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12orf60 chromosome 12 open reading frame 60 JBrowse link 12 14,567,991 14,823,858 RGD:8554872
G GUCY2C guanylate cyclase 2C JBrowse link 12 14,612,632 14,696,625 RGD:8554872
RGD:7240710
G PLBD1-AS1 PLBD1 antisense RNA 1 JBrowse link 12 14,567,732 14,619,755 RGD:8554872
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PSMB8-AS1 PSMB8 antisense RNA 1 (head to head) JBrowse link 6 32,844,086 32,846,500 RGD:8554872
G TAP1 transporter 1, ATP binding cassette subfamily B member JBrowse link 6 32,845,209 32,853,971 RGD:8554872
RGD:7240710
G TAP2 transporter 2, ATP binding cassette subfamily B member JBrowse link 6 32,821,833 32,838,823 RGD:8554872
RGD:7240710
G TAPBP TAP binding protein JBrowse link 6 33,299,694 33,314,387 RGD:8554872
RGD:7240710
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BORCS8 BLOC-1 related complex subunit 8 JBrowse link 19 19,176,904 19,192,591 RGD:8554872
G BORCS8-MEF2B BORCS8-MEF2B readthrough JBrowse link 19 19,145,567 19,192,591 RGD:8554872
G CIITA class II major histocompatibility complex transactivator JBrowse link 16 10,866,208 10,941,562 RGD:1600188
RGD:7240710
RGD:8554872
RGD:11554173
RGD:5491200
G NR2C2AP nuclear receptor 2C2 associated protein JBrowse link 19 19,201,409 19,203,429 RGD:8554872
G RFX5 regulatory factor X5 JBrowse link 1 151,340,640 151,347,319 RGD:8554872
RGD:7240710
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 19 19,192,199 19,201,869 RGD:8554872
RGD:7240710
G RFXAP regulatory factor X associated protein JBrowse link 13 36,819,202 36,829,603 RGD:8554872
RGD:7240710
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 JBrowse link 11 130,404,923 130,428,993 RGD:8554872
G AMH anti-Mullerian hormone JBrowse link 19 2,249,279 2,252,073 RGD:8554872
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 12 49,836,043 49,843,129 RGD:8554872
G BSN bassoon presynaptic cytomatrix protein JBrowse link 3 49,554,489 49,671,549 RGD:8554872
G CDH11 cadherin 11 JBrowse link 16 64,943,753 65,126,112 RGD:8554872
G EBF3 EBF transcription factor 3 JBrowse link 10 129,835,232 129,964,274 RGD:8554872
G FAM71A family with sequence similarity 71 member A JBrowse link 1 212,624,447 212,626,778 RGD:8554872
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2 196,194,370 196,593,692 RGD:8554872
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 1 16,014,028 16,019,594 RGD:8554872
G INTS6L integrator complex subunit 6 like JBrowse link X 135,520,626 135,582,535 RGD:8554872
G KBTBD7 kelch repeat and BTB domain containing 7 JBrowse link 13 41,189,834 41,194,584 RGD:8554872
G KDM6B lysine demethylase 6B JBrowse link 17 7,834,210 7,854,796 RGD:8554872
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 16 367,384 370,569 RGD:8554872
G NPIPA5 nuclear pore complex interacting protein family member A5 JBrowse link 16 15,363,613 15,381,467 RGD:8554872
G PLCB2 phospholipase C beta 2 JBrowse link 15 40,285,496 40,307,973 RGD:8554872
G PTCH2 patched 2 JBrowse link 1 44,819,844 44,842,944 RGD:8554872
G SIM1 SIM bHLH transcription factor 1 JBrowse link 6 100,385,009 100,464,929 RGD:8554872
G ZNF787 zinc finger protein 787 JBrowse link 19 56,087,363 56,121,373 RGD:8554872
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2B integrin subunit alpha 2b JBrowse link 17 44,372,181 44,389,601 RGD:8554872
G ITGB3 integrin subunit beta 3 JBrowse link 17 47,253,842 47,312,711 RGD:11554173
RGD:8554872
neonatal anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTB spectrin beta, erythrocytic JBrowse link 14 64,744,106 64,879,889 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 11 17,392,885 17,476,849 RGD:8554872
G GCK glucokinase JBrowse link 7 44,143,213 44,189,439 RGD:8554872
G INS insulin JBrowse link 11 2,159,779 2,161,209 RGD:8554872
G INS-IGF2 INS-IGF2 readthrough JBrowse link 11 2,129,112 2,161,209 RGD:8554872
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:8554872
G PDX1 pancreatic and duodenal homeobox 1 JBrowse link 13 27,919,982 27,926,314 RGD:8554872
G TH tyrosine hydroxylase JBrowse link 11 2,163,929 2,174,081 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 9 3,824,127 4,310,694 RGD:8554872
RGD:7240710
G GLIS3-AS1 GLIS3 antisense RNA 1 JBrowse link 9 3,898,646 3,901,248 RGD:8554872
Neonatal Hyperbilirubinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 154,531,390 154,547,586 RGD:10449110
G HMOX1 heme oxygenase 1 JBrowse link 22 35,381,067 35,394,214 RGD:4145302
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 8 42,270,727 42,332,653 RGD:11554173
G NCOR1 nuclear receptor corepressor 1 JBrowse link 17 16,030,094 16,216,475 RGD:11554173
G UGT1A1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 2 233,760,273 233,773,299 RGD:10769330
RGD:11554173
Neonatal Inflammatory Skin and Bowel Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 2 9,488,486 9,555,820 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 2 9,488,486 9,555,820 RGD:8554872
RGD:7240710
G IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) JBrowse link 2 9,474,529 9,512,403 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 7 55,019,021 55,208,080 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 154,531,390 154,547,586 RGD:10449116
G NR1I2 nuclear receptor subfamily 1 group I member 2 JBrowse link 3 119,780,484 119,818,485 RGD:11554173
Neonatal Pulmonary Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 2 210,477,682 210,679,107 RGD:7240710
RGD:8554872
Nesidioblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,392,885 17,476,849 RGD:8554872
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:8554872
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG4 desmoglein 4 JBrowse link 18 31,376,777 31,415,791 RGD:13592920
G GBA glucosylceramidase beta JBrowse link 1 155,234,448 155,244,862 RGD:5508433
G SPINK5 serine peptidase inhibitor, Kazal type 5 JBrowse link 5 148,063,972 148,137,362 RGD:8554872
RGD:11554173
RGD:7240710
G ST14 suppression of tumorigenicity 14 JBrowse link 11 130,159,787 130,210,362 RGD:11554173
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,796 119,744,226 RGD:8554872
RGD:7240710
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 9 78,297,075 78,330,093 RGD:11554173
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABHD5 abhydrolase domain containing 5 JBrowse link 3 43,690,870 43,734,371 RGD:8554872
RGD:7240710
G ANO10 anoctamin 10 JBrowse link 3 43,366,326 43,691,594 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 11 818,890 825,573 RGD:8554872
RGD:7240710
newborn respiratory distress syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAT catalase JBrowse link 11 34,438,925 34,472,060 RGD:8655661
G EPAS1 endothelial PAS domain protein 1 JBrowse link 2 46,297,402 46,386,703 RGD:13592920
G HMOX1 heme oxygenase 1 JBrowse link 22 35,381,067 35,394,214 RGD:4145353
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,270,841 10,286,615 RGD:4145440
RGD:4145493
G MBL2 mannose binding lectin 2 JBrowse link 10 52,764,977 52,772,847 RGD:12910849
G MEGF10 multiple EGF like domains 10 JBrowse link 5 127,229,519 127,461,222 RGD:11554173
G MIF macrophage migration inhibitory factor JBrowse link 22 23,894,378 23,895,222 RGD:4891007
G NDST1 N-deacetylase and N-sulfotransferase 1 JBrowse link 5 150,485,783 150,558,211 RGD:13592920
G NPSR1 neuropeptide S receptor 1 JBrowse link 7 34,658,239 34,878,332 RGD:4891932
G SFTPA1 surfactant protein A1 JBrowse link 10 79,610,939 79,615,443 RGD:4143433
RGD:4143428
G SFTPA2 surfactant protein A2 JBrowse link 10 79,555,852 79,560,461 RGD:4143445
G SFTPB surfactant protein B JBrowse link 2 85,657,317 85,668,741 RGD:4143416
RGD:4143455
RGD:4143418
RGD:4143428
RGD:4143433
RGD:4143376
G SFTPC surfactant protein C JBrowse link 8 22,161,671 22,164,479 RGD:4143428
RGD:4144127
G SFTPD surfactant protein D JBrowse link 10 79,937,740 79,982,236 RGD:4143428
RGD:4143507
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:8655661
G TNNT2 troponin T2, cardiac type JBrowse link 1 201,359,008 201,377,828 RGD:11554173
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,770,209 43,786,487 RGD:13592920
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN1 claudin 1 JBrowse link 3 190,305,701 190,322,446 RGD:11341732
RGD:7240710
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 7 93,099,513 93,118,023 RGD:8554872
RGD:7240710
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD7 FERM domain containing 7 JBrowse link X 132,074,926 132,128,022 RGD:8554872
RGD:11554173
RGD:7240710
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,725,413 9,786,260 RGD:8554872
RGD:7240710
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:8554872
RGD:7240710
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 14,897,564 14,954,432 RGD:8554872
RGD:7240710
G RAG1 recombination activating 1 JBrowse link 11 36,510,366 36,579,762 RGD:8554872
RGD:7240710
G RAG2 recombination activating 2 JBrowse link 11 36,591,943 36,598,279 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 3 186,842,674 186,858,463 RGD:7394795
G AMIGO2 adhesion molecule with Ig like domain 2 JBrowse link 12 47,075,707 47,080,826 RGD:14392781
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 34,255,277 34,257,203 RGD:8548878
RGD:11526145
G CSNK2A1 casein kinase 2 alpha 1 JBrowse link 20 472,498 543,838 RGD:11565123
G CSNK2A2 casein kinase 2 alpha 2 JBrowse link 16 58,157,903 58,197,920 RGD:11565123
G CSNK2B casein kinase 2 beta JBrowse link 6 31,665,880 31,670,070 RGD:11565123
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,061 RGD:12903974
G FASLG Fas ligand JBrowse link 1 172,659,008 172,666,873 RGD:12903974
G GHRL ghrelin and obestatin prepropeptide JBrowse link 3 10,285,750 10,292,947 RGD:12904963
G GHSR growth hormone secretagogue receptor JBrowse link 3 172,443,291 172,448,456 RGD:12904963
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 61,695,401 61,748,259 RGD:8695923
RGD:9068455
G HMGB1 high mobility group box 1 JBrowse link 13 30,457,916 30,617,597 RGD:10402057
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:12910457
G KDR kinase insert domain receptor JBrowse link 4 55,078,481 55,125,595 RGD:8549715
RGD:1581593
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 10 48,306,639 48,439,360 RGD:10412674
G NDP norrin cystine knot growth factor NDP JBrowse link X 43,948,776 43,973,675 RGD:8694208
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,287,485 12,471,054 RGD:2301844
G PTAFR platelet activating factor receptor JBrowse link 1 28,147,166 28,193,936 RGD:10041062
G PTGER3 prostaglandin E receptor 3 JBrowse link 1 70,852,353 71,047,808 RGD:9850261
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,089 101,139,266 RGD:8547749
RGD:13208592
G SERPINF1 serpin family F member 1 JBrowse link 17 1,761,925 1,777,574 RGD:8554878
RGD:8655544
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:8655606
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 42,313,324 42,388,503 RGD:8694296
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 RGD:7394799
RGD:7394795
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,770,209 43,786,487 RGD:7483624
periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAH11 dynein axonemal heavy chain 11 JBrowse link 7 21,543,215 21,901,568 RGD:8554872
G MBP myelin basic protein JBrowse link 18 76,978,833 77,133,708 RGD:7327203
G MCOLN1 mucolipin 1 JBrowse link 19 7,522,610 7,534,009 RGD:8554872
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 1 226,360,691 226,408,100 RGD:5683904
G RPS6KC1 ribosomal protein S6 kinase C1 JBrowse link 1 213,051,233 213,378,753 RGD:8554872
G TMCO1 transmembrane and coiled-coil domains 1 JBrowse link 1 165,724,291 165,768,922 RGD:8554872
G TNF tumor necrosis factor JBrowse link 6 31,575,567 31,578,336 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 11 17,392,885 17,476,849 RGD:8554872
RGD:7240710
G GCK glucokinase JBrowse link 7 44,143,213 44,189,439 RGD:8554872
RGD:7240710
G INS insulin JBrowse link 11 2,159,779 2,161,209 RGD:8554872
RGD:7240710
G INS-IGF2 INS-IGF2 readthrough JBrowse link 11 2,129,112 2,161,209 RGD:8554872
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:11067932
RGD:8554872
RGD:7240710
RGD:12743642
G PDX1 pancreatic and duodenal homeobox 1 JBrowse link 13 27,919,982 27,926,314 RGD:8554872
RGD:11554173
G PTF1A pancreas associated transcription factor 1a JBrowse link 10 23,192,531 23,194,252 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 10 23,192,531 23,194,252 RGD:8554872
RGD:11554173
RGD:7240710
Permanent Neonatal Diabetes Mellitus, with Neurologic Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,392,885 17,476,849 RGD:8554872
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:8554872
persistent fetal circulation syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 2 210,477,682 210,679,107 RGD:1600716
RGD:11554173
G FOXF1 forkhead box F1 JBrowse link 16 86,510,527 86,514,464 RGD:8554872
RGD:7240710
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,056 151,014,599 RGD:13592920
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,438 87,971,930 RGD:13592920
G STRA6 stimulated by retinoic acid 6 JBrowse link 15 74,179,466 74,212,267 RGD:11554173
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8554872
RGD:7240710
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 6 158,168,316 158,199,344 RGD:7246919
RGD:8554872
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 40,132,743 40,134,652 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 chain JBrowse link 12 47,972,965 48,006,212 RGD:11667102
RGD:7240710
RGD:8554872
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGB3 integrin subunit beta 3 JBrowse link 17 47,253,842 47,312,711 RGD:7240710
RGD:8554872
Premature Infant Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme JBrowse link 17 63,477,061 63,498,380 RGD:11554173
Prenatal Cortical Hyperostosis, Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 50,184,096 50,201,649 RGD:8554872
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RECQL4 RecQ like helicase 4 JBrowse link 8 144,511,284 144,517,828 RGD:8554872
RGD:7240710
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAG2 recombination activating 2 JBrowse link 11 36,591,943 36,598,279 RGD:8554872
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK2 adenylate kinase 2 JBrowse link 1 33,007,940 33,036,911 RGD:11100026
RGD:8554872
RGD:7240710
Reticular Erythrokeratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 12 52,674,736 52,680,407 RGD:8554872
G KRT10 keratin 10 JBrowse link 17 40,818,117 40,822,621 RGD:8554872
RGD:7240710
G TMEM99 transmembrane protein 99 JBrowse link 17 40,819,092 40,836,274 RGD:8554872
retinopathy of prematurity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB3 adrenoceptor beta 3 JBrowse link 8 37,962,995 37,966,666 RGD:5684355
G AGT angiotensinogen JBrowse link 1 230,702,523 230,714,590 RGD:11554173
G ANGPT2 angiopoietin 2 JBrowse link 8 6,499,651 6,563,420 RGD:2314207
RGD:2314205
G EPO erythropoietin JBrowse link 7 100,720,800 100,723,700 RGD:11041658
G EPOR erythropoietin receptor JBrowse link 19 11,377,205 11,384,342 RGD:11041658
G FLT1 fms related tyrosine kinase 1 JBrowse link 13 28,300,346 28,495,128 RGD:5684426
G FZD4 frizzled class receptor 4 JBrowse link 11 86,945,675 86,955,398 RGD:8554872
G HGF hepatocyte growth factor JBrowse link 7 81,699,006 81,770,438 RGD:8548546
G HLA-B major histocompatibility complex, class I, B JBrowse link 6 31,353,866 31,357,245 RGD:7365093
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 JBrowse link 6 32,578,769 32,589,836 RGD:7365093
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,270,841 10,286,615 RGD:4145427
G IGF1 insulin like growth factor 1 JBrowse link 12 102,395,860 102,481,839 RGD:8548825
RGD:8548867
RGD:8548852
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 45,912,245 45,921,272 RGD:12743584
G IHH Indian hedgehog signaling molecule JBrowse link 2 219,054,420 219,060,516 RGD:12910978
G IL10 interleukin 10 JBrowse link 1 206,767,603 206,772,494 RGD:7364863
G IL1B interleukin 1 beta JBrowse link 2 112,829,758 112,836,843 RGD:7204128
G KDR kinase insert domain receptor JBrowse link 4 55,078,481 55,125,595 RGD:5684426
RGD:8549753
RGD:8549746
G NDP norrin cystine knot growth factor NDP JBrowse link X 43,948,776 43,973,675 RGD:8694210
G NOS1 nitric oxide synthase 1 JBrowse link 12 117,208,142 117,361,802 RGD:7257667
G NOS2 nitric oxide synthase 2 JBrowse link 17 27,756,766 27,800,529 RGD:7257667
G NOS3 nitric oxide synthase 3 JBrowse link 7 150,991,056 151,014,599 RGD:7771560
G PRSS23 serine protease 23 JBrowse link 11 86,791,059 86,952,910 RGD:8554872
G SERPINE1 serpin family E member 1 JBrowse link 7 101,127,089 101,139,266 RGD:8547810
G SERPINF1 serpin family F member 1 JBrowse link 17 1,761,925 1,777,574 RGD:8655555
G SOD1 superoxide dismutase 1 JBrowse link 21 31,659,622 31,668,931 RGD:8655635
G VEGFA vascular endothelial growth factor A JBrowse link 6 43,770,209 43,786,487 RGD:8548546
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RECQL4 RecQ like helicase 4 JBrowse link 8 144,511,284 144,517,828 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 20 44,619,519 44,651,758 RGD:1300353
RGD:8554872
G AK2 adenylate kinase 2 JBrowse link 1 33,007,940 33,036,911 RGD:11554173
G C11orf74 chromosome 11 open reading frame 74 JBrowse link 11 36,594,246 36,659,291 RGD:8554872
G CD247 CD247 molecule JBrowse link 1 167,430,640 167,518,610 RGD:8554872
G CD3D CD3d molecule JBrowse link 11 118,339,074 118,342,744 RGD:1549420
RGD:8554872
RGD:11554173
G CD3E CD3e molecule JBrowse link 11 118,304,580 118,316,175 RGD:8554872
RGD:11554173
G CD3G CD3g molecule JBrowse link 11 118,344,344 118,353,782 RGD:8554872
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 14,897,564 14,954,432 RGD:1601049
RGD:8554872
G EPO erythropoietin JBrowse link 7 100,720,800 100,723,700 RGD:2313831
G IL2 interleukin 2 JBrowse link 4 122,449,479 122,456,495 RGD:1600060
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 71,107,404 71,111,631 RGD:1600009
RGD:8554872
G IL7R interleukin 7 receptor JBrowse link 5 35,856,849 35,879,603 RGD:1600151
RGD:8554872
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 RGD:11531109
RGD:8554872
RGD:11554173
G MYH7 myosin heavy chain 7 JBrowse link 14 23,412,738 23,435,686 RGD:8554872
G MYOC myocilin JBrowse link 1 171,635,417 171,652,633 RGD:8554872
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 8 47,773,108 47,960,183 RGD:1599202
RGD:8696027
G PTPRC protein tyrosine phosphatase receptor type C JBrowse link 1 198,638,968 198,757,476 RGD:1599983
G RAC2 Rac family small GTPase 2 JBrowse link 22 37,225,261 37,244,299 RGD:8554872
G RAG1 recombination activating 1 JBrowse link 11 36,510,366 36,579,762 RGD:1599402
RGD:8554872
RGD:7204131
RGD:1599403
G RAG2 recombination activating 2 JBrowse link 11 36,591,943 36,598,279 RGD:1599402
RGD:8554872
G RFX5 regulatory factor X5 JBrowse link 1 151,340,640 151,347,319 RGD:1599743
RGD:1599742
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 19 19,192,199 19,201,869 RGD:1599746
G TAPBP TAP binding protein JBrowse link 6 33,299,694 33,314,387 RGD:1599296
G TFRC transferrin receptor JBrowse link 3 196,018,694 196,082,161 RGD:11554173
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 2 97,712,030 97,744,327 RGD:1599880
RGD:11554173
RGD:8554872
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHEJ1 non-homologous end joining factor 1 JBrowse link 2 219,075,324 219,160,865 RGD:8554872
RGD:7240710
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 14,897,564 14,954,432 RGD:8554872
RGD:7240710
G LIG4 DNA ligase 4 JBrowse link 13 108,207,442 108,218,368 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 2 97,712,030 97,744,327 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 19 17,824,782 17,848,071 RGD:8554872
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 8 47,773,108 47,960,183 RGD:13592920
G RAG1 recombination activating 1 JBrowse link 11 36,510,366 36,579,762 RGD:8554872
RGD:7240710
G RAG2 recombination activating 2 JBrowse link 11 36,591,943 36,598,279 RGD:8554872
RGD:7240710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 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 11 118,339,074 118,342,744 RGD:8554872
G CORO1A coronin 1A JBrowse link 16 30,183,410 30,189,076 RGD:13592920
G IL7R interleukin 7 receptor JBrowse link 5 35,856,849 35,879,603 RGD:8554872
RGD:7240710
G JAK3 Janus kinase 3 JBrowse link 19 17,824,782 17,848,071 RGD:13592920
G PTPRC protein tyrosine phosphatase receptor type C JBrowse link 1 198,638,968 198,757,476 RGD:8554872
RGD:7240710
Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 JBrowse link 17 19,648,146 19,677,596 RGD:8554872
RGD:11554173
RGD:7240710
Smith-Kingsmore Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTOR mechanistic target of rapamycin kinase JBrowse link 1 11,106,531 11,273,497 RGD:8554872
RGD:7240710
G MTOR-AS1 MTOR antisense RNA 1 JBrowse link 1 11,143,898 11,149,538 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 2 8,721,134 8,837,639 RGD:8554872
RGD:7240710
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 11 3,855,703 4,093,210 RGD:8554872
RGD:7240710
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXN1 forkhead box N1 JBrowse link 17 28,506,211 28,538,900 RGD:8554872
RGD:7240710
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STK4 serine/threonine kinase 4 JBrowse link 20 44,966,470 45,079,977 RGD:8554872
RGD:7240710
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,299 1,808,872 RGD:2289863
RGD:8554872
RGD:11554173
RGD:12910972
RGD:11568030
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,822,232 21,937,297 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 4 1,793,299 1,808,872 RGD:8554872
RGD:7240710
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,793,299 1,808,872 RGD:8554872
RGD:7240710
transient neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,392,885 17,476,849 RGD:8554872
RGD:13592920
G GCK glucokinase JBrowse link 7 44,143,213 44,189,439 RGD:8554872
G HYMAI hydatidiform mole associated and imprinted JBrowse link 6 144,004,916 144,008,730 RGD:13592920
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:8554872
RGD:13592920
G ZFP57 ZFP57 zinc finger protein JBrowse link 6 29,672,392 29,681,150 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 JBrowse link 6 144,004,916 144,008,730 RGD:11554173
G ZFP57 ZFP57 zinc finger protein JBrowse link 6 29,672,392 29,681,150 RGD:8554872
RGD:7240710
Transient Neonatal Diabetes Mellitus, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,392,885 17,476,849 RGD:8554872
RGD:7240710
Transient Neonatal Diabetes Mellitus, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,385,246 17,389,331 RGD:8554872
RGD:7240710
twin-to-twin transfusion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 73,404,239 73,421,484 RGD:11035270
umbilical hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 15 32,030,462 32,172,521 RGD:11554173
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 38,411,138 38,468,834 RGD:11567270
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:11567270
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 9 75,890,644 76,362,339 RGD:11554173
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,934,667 11,975,542 RGD:8554872
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 156,241,962 156,243,332 RGD:6483568
G GGCX gamma-glutamyl carboxylase JBrowse link 2 85,544,720 85,561,534 RGD:11040513
Wolman disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPA lipase A, lysosomal acid type JBrowse link 10 89,213,569 89,252,039 RGD:1600620
RGD:8554872
RGD:1600621
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 68,298,866 68,449,275 RGD:8554872
RGD:7240710
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR4767 microRNA 4767 JBrowse link X 7,147,860 7,147,937 RGD:8554872
G MIR651 microRNA 651 JBrowse link X 8,126,965 8,127,061 RGD:8554872
G PNPLA4 patatin like phospholipase domain containing 4 JBrowse link X 7,898,763 7,928,587 RGD:8554872
G PUDP pseudouridine 5'-phosphatase JBrowse link X 6,768,840 7,148,190 RGD:8554872
G STS steroid sulfatase JBrowse link X 7,147,252 7,354,643 RGD:8554872
RGD:11554173
RGD:7240710
G VCX variable charge X-linked JBrowse link X 7,842,262 7,844,143 RGD:8554872
G VCX2 variable charge X-linked 2 JBrowse link X 8,169,944 8,171,267 RGD:8554872
G VCX3A variable charge X-linked 3A JBrowse link X 6,533,618 6,535,118 RGD:8554872
X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 71,107,404 71,111,631 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 17 16,217,195 16,351,800 RGD:8554872
RGD:7240710

Term paths to the root
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Term Annotations click to browse term
  disease 15323
    Developmental Diseases 8887
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7216
        Infant, Newborn, Diseases 419
          Amniotic Band Syndrome + 0
          Birth Injuries + 1
          Caffey disease + 6
          Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
          Colic 0
          Congenital Hyperinsulinism + 8
          Cutis Laxa-Marfanoid Syndrome 0
          Hyperglycinemia, Transient Neonatal 0
          Hyperparathyroidism, Neonatal Severe Primary 1
          Infantile Hypercalcemia + 3
          Meconium Ileus 3
          Mobius syndrome + 19
          Neonatal Alloimmune Thrombocytopenia 2
          Neonatal Hyperbilirubinemia + 18
          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 + 96
          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 + 28
          hydrophthalmos + 7
          ichthyosis + 61
          meconium aspiration syndrome 4
          neonatal abstinence syndrome 0
          neonatal anemia + 2
          neonatal diabetes mellitus + 12
          ophthalmia neonatorum 0
          persistent fetal circulation syndrome 5
          severe combined immunodeficiency + 51
          thanatophoric dysplasia + 3
          transient neonatal thrombocytopenia 0
          umbilical hernia + 12
          vitamin K deficiency bleeding 2
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