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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 36,337,883 36,452,664 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:9068941
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA adenosine deaminase JBrowse link 20 42,044,613 42,076,868 RGD:7240710
RGD:9068941
G BRCA1 BRCA1 DNA repair associated JBrowse link 17 14,429,601 14,506,815 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,582,094 10,618,383 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
asphyxia neonatorum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2B 127,922,483 127,959,372 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G HTRA2 HtrA serine peptidase 2 JBrowse link 2A 76,102,240 76,106,169 RGD:9068941
G MAP2 microtubule associated protein 2 JBrowse link 2B 215,085,476 215,395,439 RGD:9068941
G PDIA3 protein disulfide isomerase family A member 3 JBrowse link 15 40,794,144 40,821,615 RGD:9068941
G PSEN1 presenilin 1 JBrowse link 14 72,579,024 72,663,876 RGD:9068941
G PSEN2 presenilin 2 JBrowse link 1 207,320,937 207,346,295 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 166,355,845 166,364,517 RGD:9068941
G S100B S100 calcium binding protein B JBrowse link 21 46,197,750 46,203,953 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 6 162,576,082 162,589,960 RGD:9068941
G XRCC1 X-ray repair cross complementing 1 JBrowse link 19 49,093,928 49,125,723 RGD:9068941
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2B 220,668,359 220,873,566 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 48,302,172 48,317,109 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:9068941
G EBP EBP cholestenol delta-isomerase JBrowse link X 48,683,531 48,690,829 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G LOC100971205 cytochrome P450 4F22 JBrowse link 19 16,024,339 16,068,490 RGD:9068941
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 159,472,383 159,492,182 RGD:9068941
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,324,553 152,362,931 RGD:9068941
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 6 37,002,466 37,067,190 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 14 23,148,905 23,163,249 RGD:9068941
autosomal recessive congenital ichthyosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2B 220,668,359 220,873,566 RGD:9068941
G ABHD5 abhydrolase domain containing 5 JBrowse link 3 44,640,215 44,669,885 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 48,302,172 48,317,109 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 54,146,574 54,192,407 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 14 23,148,905 23,163,249 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 6 37,002,466 37,067,190 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ST14 suppression of tumorigenicity 14 JBrowse link 11 128,890,780 128,913,559 RGD:7240710
RGD:9068941
Autosomal Recessive Congenital Ichthyosis 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASP14 caspase 14 JBrowse link 19 15,565,543 15,574,402 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 JBrowse link 12 32,236,402 32,247,688 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 54,146,574 54,192,407 RGD:9068941
RGD:7240710
autosomal recessive congenital ichthyosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 48,302,172 48,317,109 RGD:7240710
RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 19 54,146,574 54,192,407 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 14 23,148,905 23,163,249 RGD:9068941
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:7240710
RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 17 8,023,248 8,036,065 RGD:9068941
autosomal recessive congenital ichthyosis 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2B 220,668,359 220,873,566 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA12 ATP binding cassette subfamily A member 12 JBrowse link 2B 220,668,359 220,873,566 RGD:7240710
RGD:9068941
G CST6 cystatin E/M JBrowse link 11 64,703,367 64,704,865 RGD:9068941
G PRSS8 serine protease 8 JBrowse link 16 31,500,225 31,504,555 RGD:9068941
autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100971205 cytochrome P450 4F22 JBrowse link 19 16,024,339 16,068,490 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NIPAL4 NIPA like domain containing 4 JBrowse link 5 159,472,383 159,492,182 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPN lipase family member N JBrowse link 10 88,990,571 89,007,327 RGD:7240710
RGD:9068941
autosomal recessive congenital ichthyosis 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERS3 ceramide synthase 3 JBrowse link 15 98,422,256 98,521,775 RGD:7240710
RGD:9068941
autosomal recessive distal spinal muscular atrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGHMBP2 immunoglobulin mu DNA binding protein 2 JBrowse link 11 67,294,195 67,331,659 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 16 89,866,884 89,917,867 RGD:9068941
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNK2 tyrosine kinase non receptor 2 JBrowse link 3 203,219,978 203,254,498 RGD:9068941
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HMGN2 high mobility group nucleosomal binding domain 2 JBrowse link 1 26,801,607 26,804,333 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,641,813 31,671,071 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 4 113,676,846 113,696,518 RGD:7240710
RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:9068941
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRRT2 proline rich transmembrane protein 2 JBrowse link 16 30,182,381 30,186,015 RGD:7240710
RGD:9068941
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100977262 sodium channel protein type 2 subunit alpha JBrowse link 2B 169,873,992 170,026,392 RGD:7240710
RGD:9068941
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 12 37,725,471 38,057,190 RGD:9068941
RGD:7240710
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 61,327,310 61,395,315 RGD:7240710
RGD:9068941
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 61,327,310 61,395,315 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 131,747,069 132,110,448 RGD:7240710
RGD:9068941
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 61,327,310 61,395,315 RGD:9068941
benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 JBrowse link 5 127,718,978 127,771,047 RGD:9068941
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 1 139,390,549 139,418,311 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 20 61,327,310 61,395,315 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 8 131,747,069 132,110,448 RGD:9068941
G LOC100977262 sodium channel protein type 2 subunit alpha JBrowse link 2B 169,873,992 170,026,392 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 87,214,451 87,234,739 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 2B 169,722,134 169,838,590 RGD:9068941
Birth Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCR5 C-C motif chemokine receptor 5 JBrowse link 3 47,377,564 47,383,625 RGD:9068941
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NKX2-1 NK2 homeobox 1 JBrowse link 14 35,627,911 35,633,377 RGD:7240710
RGD:9068941
G SFTA3 surfactant associated 3 JBrowse link 14 35,403,557 35,627,438 RGD:9068941
G TTF1 transcription termination factor 1 JBrowse link 9 132,129,318 132,158,660 RGD:9068941
Bronchopulmonary Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BAX BCL2 associated X, apoptosis regulator JBrowse link 19 54,793,594 54,800,466 RGD:9068941
G BID BH3 interacting domain death agonist JBrowse link 22 16,594,186 16,633,695 RGD:9068941
G CASP3 caspase 3 JBrowse link 4 189,018,422 189,040,217 RGD:9068941
G CASP8 caspase 8 JBrowse link 2B 206,645,803 206,696,468 RGD:9068941
G CASP9 caspase 9 JBrowse link 1 15,624,666 15,656,266 RGD:9068941
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G CCL7 C-C motif chemokine ligand 7 JBrowse link 17 22,806,311 22,808,330 RGD:9068941
G CHI3L1 chitinase 3 like 1 JBrowse link 1 183,073,287 183,083,229 RGD:9068941
G CXCL1 C-X-C motif chemokine ligand 1 JBrowse link 4 56,157,626 56,159,522 RGD:9068941
G DAG1 dystroglycan 1 JBrowse link 3 50,637,707 50,703,852 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,405,538 12,503,545 RGD:9068941
G EPAS1 endothelial PAS domain protein 1 JBrowse link 2A 47,332,286 47,421,560 RGD:9068941
G FLT1 fms related tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 66,253,421 66,256,472 RGD:9068941
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 60,552,374 60,604,885 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G MIF macrophage migration inhibitory factor JBrowse link 22 22,729,245 22,732,009 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 1 134,141,969 134,146,791 RGD:9068941
G POSTN periostin JBrowse link 13 37,371,296 37,407,202 RGD:9068941
G SCGB1A1 secretoglobin family 1A member 1 JBrowse link 11 61,133,649 61,137,873 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SFTPB surfactant protein B JBrowse link 2A 87,257,244 87,268,332 RGD:9068941
G SFTPD surfactant protein D JBrowse link 10 78,965,252 78,974,181 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TP53 tumor protein p53 JBrowse link 17 7,687,132 7,706,120 RGD:9068941
G TXN thioredoxin JBrowse link 9 109,565,557 109,578,311 RGD:9068941
G VDR vitamin D receptor JBrowse link 12 41,661,688 41,766,192 RGD:9068941
bullous congenital ichthyosiform erythroderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 49,567,831 49,599,027 RGD:9068941
G KRT2 keratin 2 JBrowse link 12 36,889,586 36,897,274 RGD:7240710
RGD:9068941
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100989599 cytochrome P450 1B1 JBrowse link 2A 38,851,000 38,859,883 RGD:7240710
RGD:9068941
G LTBP2 latent transforming growth factor beta binding protein 2 JBrowse link 14 73,899,154 74,012,203 RGD:9068941
G MYOC myocilin JBrowse link 1 150,841,630 150,858,628 RGD:9068941
G TYR tyrosinase JBrowse link 11 87,769,989 87,888,138 RGD:9068941
Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4GALT alpha 1,4-galactosyltransferase (P blood group) JBrowse link 22 41,738,285 41,765,283 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:7240710
RGD:9068941
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,248,761 133,259,631 RGD:9068941
RGD:7240710
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPT2 carnitine palmitoyltransferase 2 JBrowse link 1 54,069,334 54,086,994 RGD:7240710
RGD:9068941
CHILD Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 152,324,553 152,362,931 RGD:7240710
RGD:9068941
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERF ETS2 repressor factor JBrowse link 19 47,728,192 47,735,808 RGD:9068941
RGD:7240710
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:7240710
RGD:9068941
Congenital Hyperinsulinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:9068941
G GCK glucokinase JBrowse link 7 44,924,922 44,971,365 RGD:9068941
G GLUD1 glutamate dehydrogenase 1 RGD:9068941
G HADH hydroxyacyl-CoA dehydrogenase JBrowse link 4 111,067,537 111,112,945 RGD:9068941
G HNF4A hepatocyte nuclear factor 4 alpha JBrowse link 20 41,823,939 41,856,536 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:9068941
G KCNT2 potassium sodium-activated channel subfamily T member 2 JBrowse link 1 176,001,997 176,391,180 RGD:9068941
G TBC1D4 TBC1 domain family member 4 JBrowse link 13 75,282,441 75,480,138 RGD:9068941
Congenital Ichthyosis with Trichothiodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 7 17,278,637 17,326,171 RGD:9068941
G ATF6 activating transcription factor 6 JBrowse link 1 140,977,750 141,181,837 RGD:9068941
G FRMD7 FERM domain containing 7 JBrowse link X 131,516,484 131,567,394 RGD:9068941
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,609,597 9,650,069 RGD:9068941
G MYO7A myosin VIIA JBrowse link 11 75,834,409 75,908,297 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,641,813 31,671,071 RGD:9068941
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDOA aldolase, fructose-bisphosphate A JBrowse link 16 30,428,190 30,444,910 RGD:9068941
G CORO1A coronin 1A JBrowse link 16 30,549,880 30,555,093 RGD:7240710
RGD:9068941
G DNM2 dynamin 2 JBrowse link 19 10,974,699 11,107,354 RGD:9068941
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 16 30,479,684 30,488,868 RGD:9068941
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 16 30,489,362 30,498,026 RGD:9068941
G PPP4C protein phosphatase 4 catalytic subunit JBrowse link 16 30,450,550 30,459,889 RGD:9068941
G RHOH ras homolog family member H JBrowse link 4 40,374,816 40,420,753 RGD:9068941
G TBX6 T-box 6 JBrowse link 16 30,460,305 30,467,090 RGD:9068941
G YPEL3 yippee like 3 JBrowse link 16 30,467,490 30,471,256 RGD:9068941
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT10 keratin 10 JBrowse link 17 16,686,898 16,691,221 RGD:7240710
RGD:9068941
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:7240710
RGD:9068941
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB1 adrenoceptor beta 1 JBrowse link 10 114,075,628 114,076,596 RGD:9068941
G ADRB2 adrenoceptor beta 2 JBrowse link 5 150,267,321 150,269,339 RGD:9068941
G ADRB3 adrenoceptor beta 3 JBrowse link 8 34,440,099 34,444,043 RGD:9068941
G AGER advanced glycosylation end-product specific receptor JBrowse link 6 32,708,251 32,711,641 RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 135,413,871 135,416,432 RGD:9068941
G C5 complement C5 JBrowse link 9 120,416,256 120,548,366 RGD:9068941
G CCL11 C-C motif chemokine ligand 11 JBrowse link 17 22,789,235 22,791,272 RGD:9068941
G CCL17 C-C motif chemokine ligand 17 JBrowse link 16 56,810,923 56,822,131 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 3 47,253,878 47,278,630 RGD:9068941
G CD14 CD14 molecule JBrowse link 5 142,113,082 142,115,023 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 136,042,849 136,055,158 RGD:9068941
G CFTR cystic fibrosis transmembrane conductance regulator JBrowse link 7 122,144,821 122,327,511 RGD:7240710
RGD:9068941
G CLCA1 chloride channel accessory 1 JBrowse link 1 87,852,383 87,884,267 RGD:9068941
G CSF3R colony stimulating factor 3 receptor JBrowse link 1 36,897,148 36,914,398 RGD:9068941
G CXCL1 C-X-C motif chemokine ligand 1 JBrowse link 4 56,157,626 56,159,522 RGD:9068941
G CXCL2 C-X-C motif chemokine ligand 2 JBrowse link 4 55,925,562 55,927,809 RGD:9068941
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 4 56,285,026 56,288,308 RGD:9068941
G CXCL9 C-X-C motif chemokine ligand 9 JBrowse link 4 54,036,343 54,042,502 RGD:9068941
G CXCR2 C-X-C motif chemokine receptor 2 JBrowse link 2B 223,987,556 223,999,511 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 70,933,160 70,935,756 RGD:9068941
G DCTN4 dynactin subunit 4 JBrowse link 5 152,138,052 152,187,140 RGD:9068941
G EDN1 endothelin 1 JBrowse link 6 12,405,538 12,503,545 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 10 89,199,070 89,244,884 RGD:9068941
G FASLG Fas ligand JBrowse link 1 151,868,430 151,876,281 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:7240710
RGD:9068941
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 6 54,687,315 54,738,111 RGD:9068941
G GSTM1 glutathione S-transferase mu 1 JBrowse link 1 128,003,736 128,009,696 RGD:9068941
G GSTM3 glutathione S-transferase mu 3 JBrowse link 1 127,956,485 127,960,583 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 11 66,253,421 66,256,472 RGD:9068941
G HAVCR2 hepatitis A virus cellular receptor 2 JBrowse link 5 159,107,938 159,134,973 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 2B 202,623,497 202,637,045 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G IL13 interleukin 13 JBrowse link 5 134,235,788 134,240,548 RGD:9068941
G IL17A interleukin 17A JBrowse link 6 53,004,820 53,009,074 RGD:9068941
G IL18 interleukin 18 JBrowse link 11 110,867,586 110,888,371 RGD:9068941
G IL18BP interleukin 18 binding protein JBrowse link 11 70,302,923 70,307,511 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 2A 114,061,182 114,077,048 RGD:9068941
G IL6 interleukin 6 JBrowse link 7 23,027,560 23,032,419 RGD:9068941
G IL9 interleukin 9 JBrowse link 5 137,425,367 137,428,945 RGD:9068941
G IL9R interleukin 9 receptor JBrowse link X 155,373,324 155,386,631 RGD:9068941
G IRF1 interferon regulatory factor 1 JBrowse link 5 134,066,250 134,075,035 RGD:9068941
G LEP leptin JBrowse link 7 132,884,994 132,901,519 RGD:9068941
G LOC100976184 cytochrome P450 1A1 JBrowse link 15 73,284,566 73,290,636 RGD:9068941
G LTA lymphotoxin alpha JBrowse link 6 32,123,353 32,125,375 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G MIF macrophage migration inhibitory factor JBrowse link 22 22,729,245 22,732,009 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 20 43,432,389 43,440,129 RGD:9068941
G MPO myeloperoxidase JBrowse link 17 57,189,654 57,212,111 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 1 134,141,969 134,146,791 RGD:9068941
G MUC2 mucin 2, oligomeric mucus/gel-forming JBrowse link 11 1,143,625 1,180,798 RGD:9068941
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming JBrowse link 11 1,225,362 1,272,411 RGD:9068941
G MUC5B mucin 5B, oligomeric mucus/gel-forming JBrowse link 11 1,294,135 1,327,011 RGD:9068941
G MUC6 mucin 6, oligomeric mucus/gel-forming JBrowse link 11 1,077,234 1,106,927 RGD:9068941
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2B 211,493,021 211,528,496 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 12 118,163,655 118,314,005 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 17 29,477,285 29,519,412 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 22 45,218,364 45,302,970 RGD:9068941
G PTGDR2 prostaglandin D2 receptor 2 JBrowse link 11 59,554,874 59,557,653 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 1 166,355,845 166,364,517 RGD:9068941
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 12 6,392,354 6,423,118 RGD:9068941
G SCNN1B sodium channel epithelial 1 beta subunit JBrowse link 16 23,555,391 23,634,873 RGD:9068941
G SCNN1G sodium channel epithelial 1 gamma subunit JBrowse link 16 23,435,793 23,469,969 RGD:9068941
G SERPINA3 serpin family A member 3 JBrowse link 14 94,551,934 94,579,515 RGD:9068941
G SFTPB surfactant protein B JBrowse link 2A 87,257,244 87,268,332 RGD:9068941
G SFTPC surfactant protein C JBrowse link 8 18,343,007 18,348,764 RGD:9068941
G SFTPD surfactant protein D JBrowse link 10 78,965,252 78,974,181 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 19 46,831,659 46,852,973 RGD:7240710
RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 47,914,906 47,919,419 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 9 117,180,250 117,193,510 RGD:9068941
G TLR5 toll like receptor 5 JBrowse link 1 203,797,720 203,831,605 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 12 6,374,256 6,387,613 RGD:9068941
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC26A9 solute carrier family 26 member 9 JBrowse link 1 185,805,689 185,836,074 RGD:9068941
G SLC6A14 solute carrier family 6 member 14 JBrowse link X 115,912,873 115,937,730 RGD:9068941
G SLC9A3 solute carrier family 9 member A3 JBrowse link 5 597,897 646,108 RGD:9068941
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIEZO1 piezo type mechanosensitive ion channel component 1 JBrowse link 16 89,088,323 89,143,463 RGD:7240710
RGD:9068941
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:9068941
Dubin-Johnson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC2 ATP binding cassette subfamily C member 2 JBrowse link 10 99,889,021 99,947,452 RGD:7240710
RGD:9068941
G ABCC3 ATP binding cassette subfamily C member 3 JBrowse link 17 49,623,297 49,659,318 RGD:9068941
G RDX radixin JBrowse link 11 108,921,477 109,005,557 RGD:9068941
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 49,567,831 49,599,027 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 1 35,229,660 35,234,821 RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 1 35,208,367 35,210,949 RGD:9068941
G JUP junction plakoglobin JBrowse link 17 15,747,163 15,777,479 RGD:9068941
G KRT10 keratin 10 JBrowse link 17 16,686,898 16,691,221 RGD:7240710
RGD:9068941
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:7240710
RGD:9068941
G TMEM99 transmembrane protein 99 JBrowse link 17 16,674,079 16,690,357 RGD:9068941
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:9068941
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:7240710
RGD:9068941
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:7240710
RGD:9068941
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MVP major vault protein JBrowse link 16 30,190,929 30,217,971 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 16 30,182,381 30,186,015 RGD:7240710
RGD:9068941
fetal erythroblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERMAP erythroblast membrane associated protein (Scianna blood group) JBrowse link 1 43,501,180 43,520,622 RGD:9068941
G FCGR2A Fc fragment of IgG receptor IIa RGD:9068941
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link 6 45,099,149 45,113,689 RGD:9068941
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 RGD:7240710
RGD:9068941
HID Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:7240710
RGD:9068941
Hyaline Membrane Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SFTPC surfactant protein C JBrowse link 8 18,343,007 18,348,764 RGD:9068941
hydrophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLT1 fms related tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G LOC100989599 cytochrome P450 1B1 JBrowse link 2A 38,851,000 38,859,883 RGD:9068941
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
G C1H1orf105 chromosome 1 C1orf105 homolog JBrowse link 1 151,628,511 151,676,565 RGD:9068941
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 18 56,149,036 56,412,550 RGD:9068941
G CTSA cathepsin A JBrowse link 20 43,315,722 43,324,671 RGD:9068941
G DNAH14 dynein axonemal heavy chain 14 JBrowse link 1 205,405,371 205,868,205 RGD:9068941
G FCRL4 Fc receptor like 4 JBrowse link 1 136,728,473 136,752,838 RGD:9068941
G FZD6 frizzled class receptor 6 JBrowse link 8 102,110,317 102,144,363 RGD:9068941
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 2A 30,994,746 31,222,421 RGD:9068941
G GUSB glucuronidase beta JBrowse link 7 64,724,628 64,745,040 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
G LOC100986268 acetylcholine receptor subunit alpha JBrowse link 2B 179,476,147 179,509,974 RGD:9068941
G MYOM1 myomesin 1 JBrowse link 18 13,368,052 13,523,834 RGD:9068941
G NEB nebulin JBrowse link 2B 156,060,919 156,275,265 RGD:9068941
G PIGC phosphatidylinositol glycan anchor biosynthesis class C JBrowse link 1 151,601,116 151,652,039 RGD:9068941
G THSD1 thrombospondin type 1 domain containing 1 JBrowse link 13 52,301,206 52,330,504 RGD:9068941
G UBN1 ubinuclein 1 JBrowse link 16 4,936,864 4,970,992 RGD:9068941
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPHB4 EPH receptor B4 JBrowse link 7 106,223,427 106,248,022 RGD:9068941
RGD:7240710
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LARS2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 3 46,405,636 46,564,994 RGD:9068941
RGD:7240710
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KL klotho JBrowse link 13 32,697,381 32,752,578 RGD:9068941
G LOC100971976 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial JBrowse link 20 51,721,895 51,742,716 RGD:9068941
RGD:7240710
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 179,748,492 179,762,804 RGD:9068941
RGD:7240710
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CASR calcium sensing receptor JBrowse link 3 126,252,765 126,285,268 RGD:7240710
RGD:9068941
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 17 48,302,172 48,317,109 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 17 48,271,226 48,293,941 RGD:9068941
G COL7A1 collagen type VII alpha 1 chain JBrowse link 3 49,567,831 49,599,027 RGD:9068941
G FLG filaggrin JBrowse link 1 131,276,648 131,285,336 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 13 19,829,838 19,831,999 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G IL2RB interleukin 2 receptor subunit beta JBrowse link 22 35,874,889 35,899,038 RGD:9068941
G KRT2 keratin 2 JBrowse link 12 36,889,586 36,897,274 RGD:9068941
G LOC100971205 cytochrome P450 4F22 JBrowse link 19 16,024,339 16,068,490 RGD:9068941
G MDM2 MDM2 proto-oncogene JBrowse link 12 69,102,083 69,133,278 RGD:9068941
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 6 37,002,466 37,067,190 RGD:9068941
G SPINT1 serine peptidase inhibitor, Kunitz type 1 JBrowse link 15 38,036,638 38,050,303 RGD:9068941
G SUPV3L1 Suv3 like RNA helicase JBrowse link 10 68,180,665 68,209,538 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 14 23,148,905 23,163,249 RGD:9068941
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT2 keratin 2 JBrowse link 12 36,889,586 36,897,274 RGD:9068941
Ichthyosis Follicularis Atrichia Photophobia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MBTPS2 membrane bound transcription factor peptidase, site 2 JBrowse link X 21,825,780 21,871,381 RGD:7240710
RGD:9068941
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:7240710
RGD:9068941
Ichthyosis Prematurity Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC27A4 solute carrier family 27 member 4 JBrowse link 9 128,133,365 128,151,077 RGD:7240710
RGD:9068941
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 1 131,276,648 131,285,336 RGD:7240710
RGD:9068941
G LBR lamin B receptor JBrowse link 1 205,870,394 205,893,032 RGD:9068941
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELOVL4 ELOVL fatty acid elongase 4 JBrowse link 6 81,068,876 81,101,644 RGD:7240710
RGD:9068941
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ORAI1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 122,601,227 122,614,990 RGD:7240710
RGD:9068941
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 11 3,839,958 4,066,644 RGD:7240710
RGD:9068941
Immunodeficiency 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 98,613,740 98,639,742 RGD:7240710
RGD:9068941
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXTL3 exostosin like glycosyltransferase 3 JBrowse link 8 25,079,531 25,233,599 RGD:9068941
RGD:7240710
Infantile Hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100971976 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial JBrowse link 20 51,721,895 51,742,716 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 179,748,492 179,762,804 RGD:9068941
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 14 59,376,109 59,378,691 RGD:7240710
RGD:9068941
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
Kenny Caffey Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM111A family with sequence similarity 111 member A JBrowse link 11 57,814,345 57,824,589 RGD:7240710
RGD:9068941
G TBCE tubulin folding cofactor E JBrowse link 1 215,929,658 216,020,613 RGD:9068941
Kenny-Caffey Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBCE tubulin folding cofactor E JBrowse link 1 215,929,658 216,020,613 RGD:7240710
RGD:9068941
Keratosis Follicularis Spinulosa Decalvans, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MBTPS2 membrane bound transcription factor peptidase, site 2 JBrowse link X 21,825,780 21,871,381 RGD:7240710
RGD:9068941
G SAT1 spermidine/spermine N1-acetyltransferase 1 JBrowse link X 23,756,604 23,759,743 RGD:9068941
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGT angiotensinogen JBrowse link 1 211,279,015 211,291,044 RGD:9068941
G AGTR2 angiotensin II receptor type 2 JBrowse link X 115,670,022 115,674,287 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 2B 179,799,362 179,895,007 RGD:9068941
G SCGB1A1 secretoglobin family 1A member 1 JBrowse link 11 61,133,649 61,137,873 RGD:9068941
Meconium Ileus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C12H12orf60 chromosome 12 C12orf60 homolog JBrowse link 12 15,225,226 15,227,584 RGD:9068941
G GUCY2C guanylate cyclase 2C JBrowse link 12 15,007,612 15,091,778 RGD:7240710
RGD:9068941
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAP1 transporter 1, ATP binding cassette subfamily B member JBrowse link 6 33,530,170 33,538,978 RGD:7240710
RGD:9068941
G TAP2 transporter 2, ATP binding cassette subfamily B member JBrowse link 6 33,513,321 33,523,780 RGD:7240710
RGD:9068941
G TAPBP TAP binding protein JBrowse link 6 33,986,058 34,000,190 RGD:7240710
RGD:9068941
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BORCS8 BLOC-1 related complex subunit 8 JBrowse link 19 19,590,791 19,632,239 RGD:9068941
G CIITA class II major histocompatibility complex transactivator JBrowse link 16 11,041,434 11,090,485 RGD:9068941
RGD:7240710
G NR2C2AP nuclear receptor 2C2 associated protein JBrowse link 19 19,640,163 19,642,179 RGD:9068941
G RFX5 regulatory factor X5 JBrowse link 1 130,345,977 130,352,728 RGD:7240710
RGD:9068941
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 19 19,631,847 19,640,622 RGD:7240710
RGD:9068941
G RFXAP regulatory factor X associated protein JBrowse link 13 36,461,048 36,470,935 RGD:7240710
RGD:9068941
Mobius syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 JBrowse link 11 129,111,542 129,135,851 RGD:9068941
G AMH anti-Mullerian hormone JBrowse link 19 2,231,984 2,236,130 RGD:9068941
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 12 39,802,601 39,807,948 RGD:9068941
G BSN bassoon presynaptic cytomatrix protein JBrowse link 3 50,729,927 50,841,178 RGD:9068941
G CDH11 cadherin 11 JBrowse link 16 64,367,862 64,543,189 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 10 130,677,182 130,802,938 RGD:9068941
G FAM71A family with sequence similarity 71 member A JBrowse link 1 193,052,852 193,055,165 RGD:9068941
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2B 201,346,145 201,736,143 RGD:9068941
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 1 16,144,200 16,148,959 RGD:9068941
G INTS6L integrator complex subunit 6 like JBrowse link X 135,007,141 135,068,622 RGD:9068941
G KDM6B lysine demethylase 6B JBrowse link 17 7,858,734 7,876,220 RGD:9068941
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 16 358,376 361,566 RGD:9068941
G PLCB2 phospholipase C beta 2 JBrowse link 15 37,476,699 37,496,813 RGD:9068941
G PTCH2 patched 2 JBrowse link 1 45,492,111 45,513,055 RGD:9068941
G SIM1 SIM bHLH transcription factor 1 JBrowse link 6 102,104,462 102,181,062 RGD:9068941
G ZNF787 zinc finger protein 787 JBrowse link 19 61,919,311 61,937,557 RGD:9068941
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2B integrin subunit alpha 2b JBrowse link 17 13,176,843 13,193,269 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:9068941
neonatal anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTB spectrin beta, erythrocytic JBrowse link 14 64,209,453 64,289,073 RGD:9068941
neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:9068941
G GCK glucokinase JBrowse link 7 44,924,922 44,971,365 RGD:9068941
G INS insulin JBrowse link 11 2,230,309 2,231,666 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:9068941
G PDX1 pancreatic and duodenal homeobox 1 JBrowse link 13 27,545,855 27,553,118 RGD:9068941
G TH tyrosine hydroxylase JBrowse link 11 2,234,095 2,242,030 RGD:9068941
neonatal diabetes mellitus with congenital hypothyroidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLIS3 GLIS family zinc finger 3 JBrowse link 9 3,823,567 4,314,140 RGD:7240710
RGD:9068941
Neonatal Hyperbilirubinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 8 38,960,594 39,020,971 RGD:9068941
Neonatal Inflammatory Skin and Bowel Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 2A 9,641,194 9,708,091 RGD:9068941
Neonatal Inflammatory Skin and Bowel Disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM17 ADAM metallopeptidase domain 17 JBrowse link 2A 9,641,194 9,708,091 RGD:7240710
RGD:9068941
G IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) JBrowse link 2A 9,627,683 9,641,336 RGD:9068941
Neonatal Inflammatory Skin and Bowel Disease 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EGFR epidermal growth factor receptor JBrowse link 7 56,048,212 56,117,642 RGD:7240710
RGD:9068941
neonatal jaundice term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 153,843,092 153,860,675 RGD:9068941
G NR1I2 nuclear receptor subfamily 1 group I member 2 JBrowse link 3 123,815,135 123,853,129 RGD:9068941
Neonatal Pulmonary Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 2B 216,136,857 216,337,728 RGD:7240710
RGD:9068941
Nesidioblastosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:9068941
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG4 desmoglein 4 JBrowse link 18 28,192,145 28,230,358 RGD:9068941
G SPINK5 serine peptidase inhibitor, Kazal type 5 JBrowse link 5 149,507,003 149,587,249 RGD:7240710
RGD:9068941
G ST14 suppression of tumorigenicity 14 JBrowse link 11 128,890,780 128,913,559 RGD:9068941
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 117,800,843 117,833,462 RGD:7240710
RGD:9068941
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 9 77,147,493 77,180,439 RGD:9068941
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABHD5 abhydrolase domain containing 5 JBrowse link 3 44,640,215 44,669,885 RGD:7240710
RGD:9068941
G ANO10 anoctamin 10 JBrowse link 3 44,317,137 44,571,627 RGD:9068941
Neutral Lipid Storage Disease with Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA2 patatin like phospholipase domain containing 2 JBrowse link 11 883,279 887,258 RGD:7240710
RGD:9068941
newborn respiratory distress syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAT catalase JBrowse link 11 34,289,603 34,323,160 RGD:9068941
G EPAS1 endothelial PAS domain protein 1 JBrowse link 2A 47,332,286 47,421,560 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 22 34,230,825 34,244,063 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,484,414 10,500,605 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 10 51,537,129 51,543,041 RGD:9068941
G MEGF10 multiple EGF like domains 10 JBrowse link 5 128,466,095 128,657,845 RGD:9068941
G MIF macrophage migration inhibitory factor JBrowse link 22 22,729,245 22,732,009 RGD:9068941
G NDST1 N-deacetylase and N-sulfotransferase 1 JBrowse link 5 151,918,667 151,986,668 RGD:9068941
G NPSR1 neuropeptide S receptor 1 JBrowse link 7 35,663,335 35,883,988 RGD:9068941
G SFTPB surfactant protein B JBrowse link 2A 87,257,244 87,268,332 RGD:9068941
G SFTPC surfactant protein C JBrowse link 8 18,343,007 18,348,764 RGD:9068941
G SFTPD surfactant protein D JBrowse link 10 78,965,252 78,974,181 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 1 181,258,314 181,277,048 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN1 claudin 1 JBrowse link 3 195,882,239 195,898,990 RGD:7240710
RGD:9068941
Nystagmus 1, Congenital, X- Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRMD7 FERM domain containing 7 JBrowse link X 131,516,484 131,567,394 RGD:7240710
RGD:9068941
Nystagmus 6, Congenital, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPR143 G protein-coupled receptor 143 JBrowse link X 9,609,597 9,650,069 RGD:7240710
RGD:9068941
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PAX6 paired box 6 JBrowse link 11 31,641,813 31,671,071 RGD:7240710
RGD:9068941
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 15,229,515 15,625,331 RGD:7240710
RGD:9068941
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:7240710
RGD:9068941
Oxygen-Induced Retinopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADIPOQ adiponectin, C1Q and collagen domain containing JBrowse link 3 192,341,471 192,354,885 RGD:9068941
G AMIGO2 adhesion molecule with Ig like domain 2 JBrowse link 12 42,525,099 42,528,399 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 17 22,821,336 22,823,271 RGD:9068941
G CSNK2A1 casein kinase 2 alpha 1 JBrowse link 20 459,070 521,126 RGD:9068941
G CSNK2A2 casein kinase 2 alpha 2 JBrowse link 16 57,557,262 57,596,218 RGD:9068941
G CSNK2B casein kinase 2 beta JBrowse link 6 32,216,283 32,221,131 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 10 89,199,070 89,244,884 RGD:9068941
G FASLG Fas ligand JBrowse link 1 151,868,430 151,876,281 RGD:9068941
G GHRL ghrelin and obestatin prepropeptide JBrowse link 3 10,573,537 10,580,723 RGD:9068941
G GHSR growth hormone secretagogue receptor JBrowse link 3 177,633,039 177,638,202 RGD:9068941
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 14 60,552,374 60,604,885 RGD:9068941
G HMGB1 high mobility group box 1 JBrowse link 13 30,173,875 30,179,527 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 44,224,161 44,249,067 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 3 12,560,670 12,705,060 RGD:9068941
G PTAFR platelet activating factor receptor JBrowse link 1 28,447,178 28,474,623 RGD:9068941
G PTGER3 prostaglandin E receptor 3 JBrowse link 1 72,058,998 72,254,063 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 17 1,638,479 1,653,568 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 17 15,152,358 15,227,084 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAH11 dynein axonemal heavy chain 11 JBrowse link 7 21,540,932 21,897,485 RGD:9068941
G MBP myelin basic protein JBrowse link 18 73,628,537 73,781,956 RGD:9068941
G MCOLN1 mucolipin 1 JBrowse link 19 7,671,704 7,683,093 RGD:9068941
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 1 206,812,981 206,860,356 RGD:9068941
G RPS6KC1 ribosomal protein S6 kinase C1 JBrowse link 1 193,479,905 193,689,809 RGD:9068941
G TMCO1 transmembrane and coiled-coil domains 1 JBrowse link 1 144,948,169 144,989,880 RGD:9068941
G TNF tumor necrosis factor JBrowse link 6 32,126,618 32,129,389 RGD:9068941
permanent neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:7240710
RGD:9068941
G GCK glucokinase JBrowse link 7 44,924,922 44,971,365 RGD:7240710
RGD:9068941
G INS insulin JBrowse link 11 2,230,309 2,231,666 RGD:7240710
RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:7240710
RGD:9068941
G PDX1 pancreatic and duodenal homeobox 1 JBrowse link 13 27,545,855 27,553,118 RGD:9068941
G PTF1A pancreas associated transcription factor 1a JBrowse link 10 23,731,808 23,732,880 RGD:9068941
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTF1A pancreas associated transcription factor 1a JBrowse link 10 23,731,808 23,732,880 RGD:7240710
RGD:9068941
Permanent Neonatal Diabetes Mellitus, with Neurologic Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:9068941
persistent fetal circulation syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 2B 216,136,857 216,337,728 RGD:9068941
G FOXF1 forkhead box F1 JBrowse link 16 86,515,150 86,519,949 RGD:7240710
RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 RGD:9068941
G STRA6 stimulated by retinoic acid 6 JBrowse link 15 72,740,868 72,773,802 RGD:9068941
Photosensitive Trichothiodystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 50,897,004 50,915,849 RGD:7240710
RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2B 127,922,483 127,959,372 RGD:9068941
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 6 158,126,665 158,160,838 RGD:9068941
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 44,139,853 44,141,991 RGD:9068941
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 41,600,206 41,631,789 RGD:7240710
RGD:9068941
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGB3 integrin subunit beta 3 JBrowse link 17 10,353,111 10,388,924 RGD:7240710
RGD:9068941
Prenatal Cortical Hyperostosis, Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL1A1 collagen type I alpha 1 chain JBrowse link 17 49,149,277 49,166,833 RGD:9068941
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RECQL4 RecQ like helicase 4 JBrowse link 8 144,266,954 144,272,945 RGD:7240710
RGD:9068941
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:9068941
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK2 adenylate kinase 2 JBrowse link 1 33,480,074 33,508,697 RGD:7240710
RGD:9068941
Reticular Erythrokeratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT10 keratin 10 JBrowse link 17 16,686,898 16,691,221 RGD:7240710
RGD:9068941
G LOC100970659 keratin, type II cytoskeletal 1 JBrowse link 12 36,861,585 36,867,167 RGD:9068941
G TMEM99 transmembrane protein 99 JBrowse link 17 16,674,079 16,690,357 RGD:9068941
retinopathy of prematurity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB3 adrenoceptor beta 3 JBrowse link 8 34,440,099 34,444,043 RGD:9068941
G AGT angiotensinogen JBrowse link 1 211,279,015 211,291,044 RGD:9068941
G ANGPT2 angiopoietin 2 JBrowse link 8 6,506,012 6,566,915 RGD:9068941
G EPO erythropoietin JBrowse link 7 106,148,062 106,150,974 RGD:9068941
G EPOR erythropoietin receptor JBrowse link 19 11,635,248 11,642,383 RGD:9068941
G FLT1 fms related tyrosine kinase 1 JBrowse link 13 27,926,256 28,120,493 RGD:9068941
G FZD4 frizzled class receptor 4 JBrowse link 11 85,606,572 85,616,906 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 7 87,325,741 87,396,850 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 19 10,484,414 10,500,605 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 12 103,385,911 103,463,264 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 7 46,681,856 46,690,240 RGD:9068941
G IHH Indian hedgehog signaling molecule JBrowse link 2B 224,905,488 224,917,887 RGD:9068941
G IL10 interleukin 10 JBrowse link 1 186,648,289 186,653,155 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 4 75,377,847 75,424,927 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 44,224,161 44,249,067 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 12 118,163,655 118,314,005 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 17 29,477,285 29,519,412 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 7 154,730,009 154,755,233 RGD:9068941
G PRSS23 serine protease 23 JBrowse link 11 85,454,400 85,474,188 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 7 106,511,539 106,518,605 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 17 1,638,479 1,653,568 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 21 31,411,702 31,419,432 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 6 44,651,855 44,666,353 RGD:9068941
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RECQL4 RecQ like helicase 4 JBrowse link 8 144,266,954 144,272,945 RGD:7240710
RGD:9068941
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA adenosine deaminase JBrowse link 20 42,044,613 42,076,868 RGD:9068941
G AK2 adenylate kinase 2 JBrowse link 1 33,480,074 33,508,697 RGD:9068941
G C11H11orf74 chromosome 11 C11orf74 homolog JBrowse link 11 36,433,550 36,496,487 RGD:9068941
G CD247 CD247 molecule JBrowse link 1 146,648,733 146,736,071 RGD:9068941
G CD3D CD3d molecule JBrowse link 11 117,105,868 117,111,051 RGD:9068941
G CD3E CD3e molecule JBrowse link 11 117,074,041 117,085,625 RGD:9068941
G CD3G CD3g molecule JBrowse link 11 117,111,132 117,120,566 RGD:9068941
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 15,229,515 15,625,331 RGD:9068941
G EPO erythropoietin JBrowse link 7 106,148,062 106,150,974 RGD:9068941
G IL2 interleukin 2 JBrowse link 4 125,782,563 125,787,819 RGD:9068941
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 70,433,355 70,437,590 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 5 79,769,859 79,792,566 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 98,613,740 98,639,742 RGD:9068941
G LOC100978529 myosin-7 JBrowse link 14 22,325,814 22,348,763 RGD:9068941
G MYOC myocilin JBrowse link 1 150,841,630 150,858,628 RGD:9068941
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 8 41,593,022 41,778,299 RGD:9068941
G PTPRC protein tyrosine phosphatase receptor type C JBrowse link 1 178,555,803 178,674,089 RGD:9068941
G RAC2 Rac family small GTPase 2 JBrowse link 22 35,973,229 35,992,026 RGD:9068941
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:9068941
G RFX5 regulatory factor X5 JBrowse link 1 130,345,977 130,352,728 RGD:9068941
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 19 19,631,847 19,640,622 RGD:9068941
G TAPBP TAP binding protein JBrowse link 6 33,986,058 34,000,190 RGD:9068941
G TFRC transferrin receptor JBrowse link 3 203,333,953 203,365,586 RGD:9068941
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHEJ1 non-homologous end joining factor 1 JBrowse link 2B 224,926,183 225,012,551 RGD:7240710
RGD:9068941
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DCLRE1C DNA cross-link repair 1C JBrowse link 10 15,229,515 15,625,331 RGD:7240710
RGD:9068941
G LIG4 DNA ligase 4 JBrowse link 13 108,474,718 108,485,421 RGD:9068941
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100971372 tyrosine-protein kinase ZAP-70 JBrowse link 2A 98,613,740 98,639,742 RGD:9068941
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 8 41,593,022 41,778,299 RGD:9068941
G RAG1 recombination activating 1 JBrowse link 11 36,356,483 36,418,891 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 11 36,431,067 36,437,390 RGD:7240710
RGD:9068941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:7240710
RGD:9068941
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD3D CD3d molecule JBrowse link 11 117,105,868 117,111,051 RGD:9068941
G CD3E CD3e molecule JBrowse link 11 117,074,041 117,085,625 RGD:9068941
G CORO1A coronin 1A JBrowse link 16 30,549,880 30,555,093 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 5 79,769,859 79,792,566 RGD:7240710
RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 19 18,283,157 18,304,641 RGD:9068941
G PTPRC protein tyrosine phosphatase receptor type C JBrowse link 1 178,555,803 178,674,089 RGD:7240710
RGD:9068941
Sjogren-Larsson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH3A2 aldehyde dehydrogenase 3 family member A2 JBrowse link 17 36,599,830 36,628,102 RGD:7240710
RGD:9068941
Smith-Kingsmore Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MTOR mechanistic target of rapamycin kinase JBrowse link 1 11,093,765 11,249,841 RGD:7240710
RGD:9068941
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIDINS220 kinase D interacting substrate 220 JBrowse link 2A 8,894,686 9,003,320 RGD:9068941
RGD:7240710
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 11 3,839,958 4,066,644 RGD:7240710
RGD:9068941
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXN1 forkhead box N1 JBrowse link 17 28,740,775 28,773,592 RGD:7240710
RGD:9068941
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MST1 macrophage stimulating 1 JBrowse link 3 50,855,283 50,856,052 RGD:9068941
G STK4 serine/threonine kinase 4 JBrowse link 20 42,389,611 42,503,014 RGD:7240710
RGD:9068941
thanatophoric dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:9068941
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 1 21,979,504 22,053,395 RGD:9068941
Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 4 1,843,780 1,858,635 RGD:7240710
RGD:9068941
transient neonatal diabetes mellitus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:9068941
G GCK glucokinase JBrowse link 7 44,924,922 44,971,365 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:9068941
G ZFP57 ZFP57 zinc finger protein JBrowse link 6 30,134,263 30,143,045 RGD:9068941
Transient Neonatal Diabetes Mellitus, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLAGL1 PLAG1 like zinc finger 1 JBrowse link 6 146,435,427 146,480,233 RGD:9068941
G ZFP57 ZFP57 zinc finger protein JBrowse link 6 30,134,263 30,143,045 RGD:7240710
RGD:9068941
Transient Neonatal Diabetes Mellitus, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC8 ATP binding cassette subfamily C member 8 JBrowse link 11 17,133,063 17,216,870 RGD:7240710
RGD:9068941
Transient Neonatal Diabetes Mellitus, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 11 17,125,885 17,129,579 RGD:7240710
RGD:9068941
twin-to-twin transfusion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 4 56,605,322 56,622,418 RGD:9068941
umbilical hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 15 29,565,885 29,705,194 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 34,890,147 34,948,904 RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,469,735 121,588,815 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 9 74,745,187 75,224,347 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 1 11,900,881 11,941,308 RGD:9068941
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 1 135,413,871 135,416,432 RGD:9068941
G GGCX gamma-glutamyl carboxylase JBrowse link 2A 87,152,108 87,164,567 RGD:9068941
Wolman disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPA lipase A, lysosomal acid type JBrowse link 10 89,478,502 89,516,580 RGD:9068941
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 11 66,794,645 66,840,019 RGD:7240710
RGD:9068941
X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA4 patatin like phospholipase domain containing 4 JBrowse link X 7,756,047 7,786,124 RGD:9068941
G PUDP pseudouridine 5'-phosphatase JBrowse link X 6,908,021 6,965,025 RGD:9068941
G STS steroid sulfatase JBrowse link X 7,015,812 7,211,919 RGD:7240710
RGD:9068941
X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 70,433,355 70,437,590 RGD:9068941
RGD:7240710
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGL phosphatidylinositol glycan anchor biosynthesis class L JBrowse link 2A 110,417,772 110,523,985 RGD:7240710
RGD:9068941

Term paths to the root
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Term Annotations click to browse term
  disease 11056
    Developmental Diseases 7140
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6212
        Infant, Newborn, Diseases 375
          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 + 17
          Neonatal Alloimmune Thrombocytopenia 2
          Neonatal Hyperbilirubinemia + 7
          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 + 88
          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 + 81
          fetal erythroblastosis + 23
          hydrophthalmos + 6
          ichthyosis + 56
          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 + 50
          thanatophoric dysplasia + 3
          transient neonatal thrombocytopenia 0
          umbilical hernia + 10
          vitamin K deficiency bleeding 2
paths to the root