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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 B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:9068941
G FKBP5 FKBP prolyl isomerase 5 JBrowse link 12 4,724,668 4,833,691 RGD:9068941
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA adenosine deaminase JBrowse link 24 32,083,786 32,119,810 RGD:7240710
RGD:9068941
G BRCA1 BRCA1, DNA repair associated JBrowse link 9 19,958,941 20,025,494 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 24 11,656,926 11,693,146 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 20 45,051,135 45,068,445 RGD:9068941
asphyxia neonatorum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 9 26,183,852 26,199,927 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 19 23,310,911 23,344,083 RGD:9068941
G HTRA2 HtrA serine peptidase 2 JBrowse link 17 48,610,408 48,613,399 RGD:9068941
G MAP2 microtubule associated protein 2 JBrowse link 37 17,316,899 17,611,360 RGD:9068941
G PDIA3 protein disulfide isomerase family A member 3 JBrowse link 30 10,487,926 10,513,437 RGD:9068941
G PSEN1 presenilin 1 JBrowse link 8 46,495,551 46,569,532 RGD:9068941
G PSEN2 presenilin 2 JBrowse link 7 38,147,157 38,163,023 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 7 19,668,079 19,674,903 RGD:9068941
G S100B S100 calcium binding protein B JBrowse link 31 39,783,990 39,788,289 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
G XRCC1 X-ray repair cross complementing 1 JBrowse link 1 111,548,719 111,571,816 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 25 17,952,851 17,958,289 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 37 22,136,732 22,306,917 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 5 32,899,416 32,911,442 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:9068941
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 20 46,674,580 46,743,183 RGD:9068941
G EBP EBP cholestenol delta-isomerase JBrowse link X 41,774,857 41,779,474 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G NIPAL4 NIPA like domain containing 4 JBrowse link 4 52,735,094 52,748,168 RGD:9068941
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 120,720,118 120,754,573 RGD:9068941
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 12 5,377,430 5,423,556 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 8 4,229,410 4,244,768 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 37 22,136,732 22,306,917 RGD:9068941
G ABHD5 abhydrolase domain containing 5 JBrowse link 23 2,584,813 2,619,204 RGD:9068941
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 5 32,899,416 32,911,442 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 1 107,705,568 107,721,160 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 8 4,229,410 4,244,768 RGD:12801476
RGD:9068941
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 12 5,377,430 5,423,556 RGD:12801476
RGD:9068941
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 5 4,652,493 4,666,728 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 20 47,060,351 47,067,169 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 10 1,112,832 1,121,238 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 1 107,705,568 107,721,160 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 5 32,899,416 32,911,442 RGD:7240710
RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:9068941
G SULT2B1 sulfotransferase family 2B member 1 JBrowse link 1 107,705,568 107,721,160 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 8 4,229,410 4,244,768 RGD:9068941
autosomal recessive congenital ichthyosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:7240710
RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 5 32,844,033 32,859,263 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 37 22,136,732 22,306,917 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 37 22,136,732 22,306,917 RGD:7240710
RGD:9068941
G CST6 cystatin E/M JBrowse link 18 51,263,161 51,264,816 RGD:9068941
G PRSS8 serine protease 8 JBrowse link 6 17,110,251 17,114,564 RGD:9068941
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 20 46,674,580 46,743,183 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 4 52,735,094 52,748,168 RGD:12801476
RGD:9068941
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 26 38,573,408 38,588,171 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 3 40,448,174 40,570,736 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 18 49,063,748 49,090,625 RGD:7240710
RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 5 63,984,716 64,023,271 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 33 29,153,636 29,177,568 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 2 73,579,042 73,582,786 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 32 30,710,161 30,730,162 RGD:7240710
RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 19 19,129,418 19,327,377 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 6 17,872,670 17,877,502 RGD:7240710
RGD:9068941
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 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 27 3,174,257 3,348,349 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 24 47,060,527 47,089,077 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 24 47,060,527 47,089,077 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 13 28,765,472 29,062,371 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 24 47,060,527 47,089,077 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 11 15,828,581 15,878,556 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 24 47,060,527 47,089,077 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 13 28,765,472 29,062,371 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 3 52,357,062 52,373,768 RGD:9068941
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 36 10,472,496 10,605,055 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 36 10,300,091 10,405,361 RGD:9068941
Birth Injuries term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCR5 C-C motif chemokine receptor 5 (gene/pseudogene) JBrowse link 20 42,293,288 42,297,952 RGD:9068941
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SFTA3 surfactant associated 3 JBrowse link 8 15,048,052 15,063,373 RGD:9068941
G TTF1 transcription termination factor 1 JBrowse link 9 51,855,565 51,881,000 RGD:9068941
Bronchopulmonary Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BAX BCL2 associated X, apoptosis regulator JBrowse link 1 107,423,388 107,426,464 RGD:9068941
G BID BH3 interacting domain death agonist JBrowse link 27 45,344,304 45,355,735 RGD:9068941
G CASP3 caspase 3 JBrowse link 16 45,920,074 45,940,507 RGD:9068941
G CASP8 caspase 8 JBrowse link 37 10,362,071 10,402,108 RGD:9068941
G CASP9 caspase 9 JBrowse link 2 82,033,759 82,076,710 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CCL7 C-C motif chemokine ligand 7 JBrowse link 9 38,994,638 38,996,103 RGD:9068941
G CD209 CD209 molecule JBrowse link 20 52,517,759 52,542,085 RGD:9068941
G CHI3L1 chitinase 3 like 1 JBrowse link 7 25,620 32,954 RGD:9068941
G DAG1 dystroglycan 1 JBrowse link 20 39,707,672 39,779,094 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G EPAS1 endothelial PAS domain protein 1 JBrowse link 10 48,550,836 48,636,776 RGD:9068941
G FLT1 fms related tyrosine kinase 1 JBrowse link 25 11,231,958 11,410,379 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 18 49,905,161 49,908,182 RGD:9068941
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 8 36,614,045 36,656,692 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G LOC100687127 thioredoxin-like JBrowse link X 82,986,288 82,986,753 RGD:9068941
G LOC610540 pulmonary surfactant-associated protein A-like JBrowse link 4 29,430,139 29,434,640 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 4 29,419,886 29,424,377 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 7 42,338,939 42,344,690 RGD:9068941
G POSTN periostin JBrowse link 25 3,167,319 3,208,970 RGD:9068941
G SCGB1A1 secretoglobin family 1A member 1 JBrowse link 18 54,187,487 54,191,493 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 6 8,719,547 8,727,160 RGD:9068941
G SFTPB surfactant protein B JBrowse link 17 39,419,305 39,428,513 RGD:9068941
G SFTPD surfactant protein D JBrowse link 4 29,394,755 29,407,499 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 RGD:9068941
G VDR vitamin D receptor JBrowse link 27 6,852,915 6,909,466 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 20 40,519,121 40,550,305 RGD:9068941
G KRT2 keratin 2 JBrowse link 27 2,447,854 2,454,492 RGD:7240710
RGD:9068941
buphthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 JBrowse link 17 30,273,281 30,278,554 RGD:7240710
RGD:9068941
G LTBP2 latent transforming growth factor beta binding protein 2 JBrowse link 8 47,657,618 47,758,257 RGD:9068941
G MYOC myocilin JBrowse link 7 27,335,314 27,346,821 RGD:9068941
G TYR tyrosinase JBrowse link 21 10,799,940 10,894,187 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 10 22,752,657 22,776,858 RGD:9068941
G COL1A1 collagen type I alpha 1 chain JBrowse link 9 26,183,852 26,199,927 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 49,905,580 49,919,849 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 5 55,718,209 55,786,175 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 120,720,118 120,754,573 RGD:7240710
RGD:12801476
RGD:9068941
CHITAYAT SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERF ETS2 repressor factor JBrowse link 1 112,117,338 112,124,464 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 18 31,628,231 31,639,980 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 18 31,614,143 31,621,489 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 21 39,963,001 40,037,040 RGD:9068941
G GCK glucokinase RGD:9068941
G GLUD1 glutamate dehydrogenase 1 JBrowse link 4 34,629,046 34,662,711 RGD:9068941
G HADH hydroxyacyl-CoA dehydrogenase JBrowse link 32 28,460,445 28,506,141 RGD:9068941
G HNF4A hepatocyte nuclear factor 4 alpha JBrowse link 24 31,847,864 31,908,337 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 RGD:9068941
G KCNT2 potassium sodium-activated channel subfamily T member 2 JBrowse link 38 3,006,639 3,382,234 RGD:9068941
G TBC1D4 TBC1 domain family member 4 JBrowse link 22 29,109,079 29,175,357 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 1 110,173,781 110,191,612 RGD:9068941
congenital nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 14 31,743,704 31,793,484 RGD:9068941
G ATF6 activating transcription factor 6 JBrowse link 38 20,705,167 20,903,852 RGD:9068941
G FRMD7 FERM domain containing 7 JBrowse link X 103,027,980 103,055,139 RGD:9068941
G GPR143 G protein-coupled receptor 143 JBrowse link X 6,438,068 6,479,731 RGD:9068941
G MYO7A myosin VIIA JBrowse link 21 21,539,735 21,624,063 RGD:9068941
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDOA aldolase, fructose-bisphosphate A JBrowse link 6 18,077,241 18,083,053 RGD:9068941
G CORO1A coronin 1A JBrowse link 6 18,161,850 18,167,915 RGD:7240710
RGD:9068941
G DNM2 dynamin 2 JBrowse link 20 50,398,866 50,487,303 RGD:9068941
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 6 18,103,273 18,108,818 RGD:9068941
G MAPK3 mitogen-activated protein kinase 3 JBrowse link 6 18,109,184 18,115,728 RGD:9068941
G PPP4C protein phosphatase 4 catalytic subunit JBrowse link 6 18,085,048 18,092,861 RGD:9068941
G RHOH ras homolog family member H JBrowse link 3 72,272,446 72,277,015 RGD:9068941
G TBX6 T-box 6 JBrowse link 6 18,093,201 18,098,592 RGD:9068941
G YPEL3 yippee like 3 JBrowse link 6 18,098,761 18,102,062 RGD:9068941
Cyclic Ichthyosis with Epidermolytic Hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 RGD:7240710
RGD:9068941
G KRT10 keratin 10 JBrowse link 9 21,863,715 21,868,587 RGD:7240710
RGD:9068941
cystic fibrosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB1 adrenoceptor beta 1 JBrowse link 28 24,908,224 24,909,684 RGD:9068941
G ADRB2 adrenoceptor beta 2 JBrowse link 4 60,048,502 60,050,447 RGD:9068941
G ADRB3 adrenoceptor beta 3 JBrowse link 16 27,445,601 27,446,796 RGD:9068941
G AGER advanced glycosylation end-product specific receptor JBrowse link 12 1,574,251 1,577,410 RGD:9068941
G B9D2 B9 domain containing 2 JBrowse link 1 112,621,832 112,627,726 RGD:7240710
RGD:9068941
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 7 41,630,092 41,630,976 RGD:9068941
G C5 complement C5 JBrowse link 11 73,953,727 74,029,919 RGD:9068941
G CCL17 C-C motif chemokine ligand 17 JBrowse link 2 59,001,463 59,014,347 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CCL4 chemokine (C-C motif) ligand 4 JBrowse link 9 37,681,342 37,682,691 RGD:9068941
G CCR3 C-C motif chemokine receptor 3 JBrowse link 20 42,382,380 42,398,449 RGD:9068941
G CD14 CD14 molecule JBrowse link 2 35,790,505 35,792,967 RGD:9068941
G CD40LG CD40 ligand JBrowse link X 107,001,421 107,023,007 RGD:9068941
G CFTR cystic fibrosis transmembrane conductance regulator JBrowse link 14 56,290,417 56,452,919 RGD:7240710
RGD:9068941
G CLCA1 chloride channel accessory 1 JBrowse link 6 61,620,755 61,650,111 RGD:9068941
G CSF3R colony stimulating factor 3 receptor JBrowse link 15 5,818,985 5,832,455 RGD:9068941
G CXCL8 C-X-C motif chemokine ligand 8 JBrowse link 13 62,435,035 62,438,354 RGD:9068941
G CXCR2 C-X-C motif chemokine receptor 2 JBrowse link 37 24,831,351 24,846,387 RGD:9068941
G CXCR3 C-X-C motif chemokine receptor 3 JBrowse link X 55,882,433 55,884,582 RGD:9068941
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 JBrowse link 30 37,793,277 37,799,535 RGD:9068941
G DCTN4 dynactin subunit 4 JBrowse link 4 58,423,591 58,453,055 RGD:9068941
G DEFB4A defensin, beta 4A JBrowse link 16 58,953,916 58,956,407 RGD:9068941
G EDN1 endothelin 1 JBrowse link 35 11,808,892 11,815,383 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 26 38,738,811 38,763,298 RGD:9068941
G FASLG Fas ligand JBrowse link 7 26,335,837 26,344,224 RGD:9068941
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 12 20,999,815 21,047,779 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 18 49,905,161 49,908,182 RGD:9068941
G HAVCR2 hepatitis A virus cellular receptor 2 JBrowse link 4 53,018,990 53,032,035 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 10 28,744,404 28,751,544 RGD:9068941
G HSPD1 heat shock protein family D (Hsp60) member 1 JBrowse link 37 7,010,421 7,025,912 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G IL13 interleukin 13 JBrowse link 11 20,957,870 20,961,391 RGD:9068941
G IL17A interleukin 17A JBrowse link 12 19,854,129 19,862,521 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G IL18BP interleukin 18 binding protein JBrowse link 21 26,076,515 26,080,741 RGD:9068941
G IL1A interleukin 1 alpha JBrowse link 17 36,969,581 36,979,445 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G IL1RN interleukin 1 receptor antagonist JBrowse link 17 37,236,690 37,250,424 RGD:9068941
G IL6 interleukin 6 JBrowse link 14 36,474,268 36,478,519 RGD:9068941
G IL9 interleukin 9 JBrowse link 11 23,808,919 23,814,085 RGD:9068941
G IRF1 interferon regulatory factor 1 JBrowse link 11 20,773,801 20,781,106 RGD:9068941
G LEP leptin JBrowse link 14 8,115,396 8,130,946 RGD:9068941
G LOC479911 glutathione S-transferase Mu 3 JBrowse link 6 42,187,869 42,191,274 RGD:9068941
G LOC480425 alpha-1-antichymotrypsin JBrowse link 8 63,588,188 63,596,955 RGD:9068941
G LOC610540 pulmonary surfactant-associated protein A-like JBrowse link 4 29,430,139 29,434,640 RGD:9068941
G LOC611642 interleukin-9 receptor JBrowse link 6 40,425,072 40,437,917 RGD:9068941
G LTA lymphotoxin alpha JBrowse link 12 1,070,608 1,073,053 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 4 29,419,886 29,424,377 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 24 33,274,260 33,281,116 RGD:9068941
G MPO myeloperoxidase JBrowse link 9 32,927,483 32,938,007 RGD:9068941
G MUC1 mucin 1, cell surface associated JBrowse link 7 42,338,939 42,344,690 RGD:9068941
G MUC2 mucin 2, oligomeric mucus/gel-forming JBrowse link 18 45,416,347 45,438,226 RGD:9068941
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming JBrowse link 18 45,471,232 45,498,961 RGD:9068941
G MUC5B mucin 5B, oligomeric mucus/gel-forming JBrowse link 18 45,517,479 45,545,765 RGD:9068941
G MUC6 mucin 6, oligomeric mucus/gel-forming JBrowse link 18 45,359,412 45,376,678 RGD:9068941
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 37 14,680,908 14,713,838 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 26 13,787,341 13,895,176 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 9 42,171,821 42,210,217 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 16 15,054,196 15,072,454 RGD:9068941
G PPARA peroxisome proliferator activated receptor alpha JBrowse link 10 19,934,020 20,006,096 RGD:9068941
G PTGDR2 prostaglandin D2 receptor 2 JBrowse link 18 55,426,632 55,431,916 RGD:9068941
G PTGS2 prostaglandin-endoperoxide synthase 2 JBrowse link 7 19,668,079 19,674,903 RGD:9068941
G SCNN1A sodium channel epithelial 1 alpha subunit JBrowse link 27 38,612,206 38,638,212 RGD:9068941
G SCNN1B sodium channel epithelial 1 beta subunit JBrowse link 6 22,439,643 22,481,349 RGD:9068941
G SCNN1G sodium channel epithelial 1 gamma subunit JBrowse link 6 22,566,568 22,593,479 RGD:9068941
G SFTPB surfactant protein B JBrowse link 17 39,419,305 39,428,513 RGD:9068941
G SFTPC surfactant protein C JBrowse link 25 35,088,295 35,090,995 RGD:9068941
G SFTPD surfactant protein D JBrowse link 4 29,394,755 29,407,499 RGD:9068941
G TIMP1 TIMP metallopeptidase inhibitor 1 JBrowse link X 41,201,623 41,205,314 RGD:9068941
G TLR4 toll like receptor 4 JBrowse link 11 71,356,390 71,367,166 RGD:9068941
G TLR5 toll like receptor 5 JBrowse link 38 23,700,323 23,705,628 RGD:9068941
G TLR9 toll like receptor 9 JBrowse link 20 37,529,322 37,547,117 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G TNFRSF1A TNF receptor superfamily member 1A JBrowse link 27 38,641,837 38,654,693 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 38 2,267,404 2,303,997 RGD:9068941
G SLC6A14 solute carrier family 6 member 14 JBrowse link X 88,939,176 88,965,093 RGD:9068941
G SLC9A3 solute carrier family 9 member A3 JBrowse link 34 11,748,556 11,785,209 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 5 64,584,153 64,640,423 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 21 39,953,461 39,957,615 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 28 12,670,885 12,740,124 RGD:7240710
RGD:9068941
G ABCC3 ATP binding cassette subfamily C member 3 JBrowse link 9 26,551,953 26,596,330 RGD:9068941
G RDX radixin JBrowse link 5 22,555,913 22,642,822 RGD:9068941
epidermolytic hyperkeratosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL7A1 collagen type VII alpha 1 chain JBrowse link 20 40,519,121 40,550,305 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G GJB3 gap junction protein beta 3 JBrowse link 15 7,175,010 7,177,145 RGD:9068941
G GJB4 gap junction protein beta 4 JBrowse link 15 7,193,183 7,195,586 RGD:9068941
G JUP junction plakoglobin JBrowse link 9 21,028,773 21,053,071 RGD:9068941
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 RGD:7240710
RGD:9068941
G KRT10 keratin 10 JBrowse link 9 21,863,715 21,868,587 RGD:12801476
RGD:9068941
RGD:7240710
Epidermolytic Hyperkeratosis, Late-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 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 21 39,963,001 40,037,040 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 21 39,963,001 40,037,040 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 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 6 17,879,687 17,903,184 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 6 17,872,670 17,877,502 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 15 527,726 543,364 RGD:9068941
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link 12 12,632,233 12,644,669 RGD:9068941
Greenberg Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LBR lamin B receptor JBrowse link 7 39,289,517 39,309,026 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 25 17,952,851 17,958,289 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 6 8,719,547 8,727,160 RGD:9068941
G SFTPC surfactant protein C JBrowse link 25 35,088,295 35,090,995 RGD:9068941
hydrophthalmos term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 JBrowse link 17 30,273,281 30,278,554 RGD:9068941
G FLT1 fms related tyrosine kinase 1 JBrowse link 25 11,231,958 11,410,379 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 13 47,442,861 47,484,574 RGD:9068941
Hydrops Fetalis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 13 62,133,747 62,169,349 RGD:9068941
G C7H1orf105 chromosome 7 C1orf105 homolog JBrowse link 7 26,490,012 26,561,542 RGD:9068941
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 1 16,597,389 16,819,888 RGD:9068941
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 36 18,726,243 18,742,505 RGD:9068941
G CTSA cathepsin A JBrowse link 24 33,183,090 33,189,248 RGD:9068941
G DNAH14 dynein axonemal heavy chain 14 JBrowse link 7 39,310,580 39,648,017 RGD:9068941
G FCRL4 Fc receptor like 4 JBrowse link 7 40,644,899 40,670,549 RGD:9068941
G FZD6 frizzled class receptor 6 JBrowse link 13 4,732,541 4,771,294 RGD:9068941
G GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 JBrowse link 17 24,535,870 24,740,998 RGD:9068941
G GUSB glucuronidase beta JBrowse link 6 730,345 743,916 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 20 45,051,135 45,068,445 RGD:9068941
G LOC610540 pulmonary surfactant-associated protein A-like JBrowse link 4 29,430,139 29,434,640 RGD:9068941
G MYOM1 myomesin 1 JBrowse link 7 69,703,057 69,837,987 RGD:9068941
G NEB nebulin JBrowse link 19 52,720,427 52,921,064 RGD:9068941
G PIGC phosphatidylinositol glycan anchor biosynthesis class C JBrowse link 7 26,548,894 26,551,702 RGD:9068941
G THSD1 thrombospondin type 1 domain containing 1 JBrowse link 25 197,294 223,804 RGD:9068941
G UBN1 ubinuclein 1 JBrowse link 6 36,542,266 36,581,789 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 6 8,925,303 8,943,284 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 20 42,891,823 43,080,987 RGD:9068941
RGD:7240710
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100688473 UDP-glucuronosyltransferase 1-8-like JBrowse link 25 45,029,804 45,034,046 RGD:9068941
G UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 JBrowse link 25 45,081,655 45,161,584 RGD:9068941
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 24 39,861,018 39,878,161 RGD:9068941
RGD:7240710
G KL klotho JBrowse link 25 7,154,359 7,201,744 RGD:9068941
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC34A1 solute carrier family 34 member 1 JBrowse link 4 35,961,394 35,973,733 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 33 25,340,822 25,432,814 RGD:7240710
RGD:9068941
ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALOX12B arachidonate 12-lipoxygenase, 12R type JBrowse link 5 32,899,416 32,911,442 RGD:9068941
G ALOXE3 arachidonate lipoxygenase 3 JBrowse link 5 32,917,681 32,941,470 RGD:9068941
G ASPRV1 aspartic peptidase retroviral like 1 JBrowse link 10 68,586,405 68,589,753 RGD:12801476
G COL7A1 collagen type VII alpha 1 chain JBrowse link 20 40,519,121 40,550,305 RGD:9068941
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 JBrowse link 20 46,674,580 46,743,183 RGD:9068941
G FLG filaggrin JBrowse link 17 61,217,915 61,233,068 RGD:9068941
G GJB2 gap junction protein beta 2 JBrowse link 25 17,952,851 17,958,289 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G IL2RB interleukin 2 receptor subunit beta JBrowse link 10 27,370,797 27,388,775 RGD:9068941
G KRT2 keratin 2 JBrowse link 27 2,447,854 2,454,492 RGD:9068941
G MDM2 MDM2 proto-oncogene JBrowse link 10 10,936,288 10,963,118 RGD:9068941
G PNPLA1 patatin like phospholipase domain containing 1 JBrowse link 12 5,377,430 5,423,556 RGD:9068941
G SPINT1 serine peptidase inhibitor, Kunitz type 1 JBrowse link 30 7,976,094 7,989,019 RGD:9068941
G SUPV3L1 Suv3 like RNA helicase JBrowse link 4 20,313,902 20,342,375 RGD:9068941
G TGM1 transglutaminase 1 JBrowse link 8 4,229,410 4,244,768 RGD:9068941
Ichthyosis Exfoliativa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT2 keratin 2 JBrowse link 27 2,447,854 2,454,492 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 17,655,295 17,718,960 RGD:7240710
RGD:9068941
Ichthyosis Hystrix, Curth Macklin Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 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 55,164,106 55,177,567 RGD:12801476
RGD:9068941
RGD:7240710
ichthyosis vulgaris term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLG filaggrin JBrowse link 17 61,217,915 61,233,068 RGD:7240710
RGD:9068941
G LBR lamin B receptor JBrowse link 7 39,289,517 39,309,026 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 12 40,845,357 40,876,658 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 26 7,584,276 7,599,667 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 21 26,394,592 26,594,764 RGD:7240710
RGD:9068941
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 10 44,887,416 44,913,845 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 25 28,788,803 28,833,964 RGD:9068941
RGD:7240710
Infantile Hypercalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 JBrowse link 24 39,861,018 39,878,161 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 4 35,961,394 35,973,733 RGD:9068941
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 8 35,565,838 35,568,423 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 20 45,051,135 45,068,445 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 18 37,584,326 37,595,316 RGD:7240710
RGD:9068941
G TBCE tubulin folding cofactor E JBrowse link 4 4,490,892 4,569,401 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 4 4,490,892 4,569,401 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 17,655,295 17,718,960 RGD:7240710
RGD:9068941
G SAT1 spermidine/spermine N1-acetyltransferase 1 JBrowse link X 19,461,945 19,464,209 RGD:9068941
Kniest dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL2A1 collagen type II alpha 1 chain JBrowse link 27 6,756,994 6,787,733 RGD:7240710
RGD:9068941
meconium aspiration syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGT angiotensinogen JBrowse link 4 8,681,192 8,694,059 RGD:9068941
G AGTR2 angiotensin II receptor type 2 JBrowse link X 88,703,551 88,708,451 RGD:9068941
G ATF2 activating transcription factor 2 JBrowse link 36 19,032,376 19,103,382 RGD:9068941
G SCGB1A1 secretoglobin family 1A member 1 JBrowse link 18 54,187,487 54,191,493 RGD:9068941
Meconium Ileus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C27H12orf60 chromosome 27 C12orf60 homolog JBrowse link 27 31,774,850 31,805,601 RGD:9068941
G GUCY2C guanylate cyclase 2C JBrowse link 27 31,915,552 31,989,748 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 12 2,424,049 2,432,165 RGD:7240710
RGD:9068941
G TAP2 transporter 2, ATP binding cassette subfamily B member JBrowse link 12 2,407,512 2,417,469 RGD:7240710
RGD:9068941
G TAPBP TAP binding protein JBrowse link 12 2,740,276 2,751,808 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 20 43,983,476 43,994,575 RGD:9068941
G CIITA class II major histocompatibility complex transactivator JBrowse link 6 31,774,486 31,837,025 RGD:9068941
RGD:7240710
G NR2C2AP nuclear receptor 2C2 associated protein JBrowse link 20 43,976,373 43,978,410 RGD:9068941
G RFX5 regulatory factor X5 JBrowse link 17 60,393,773 60,400,150 RGD:7240710
RGD:9068941
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 20 43,977,860 43,984,063 RGD:7240710
RGD:9068941
G RFXAP regulatory factor X associated protein JBrowse link 25 3,861,927 3,871,854 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 5 4,479,874 4,517,211 RGD:9068941
G AMH anti-Mullerian hormone JBrowse link 20 56,785,960 56,788,815 RGD:9068941
G BCDIN3D BCDIN3 domain containing RNA methyltransferase JBrowse link 27 4,851,156 4,860,322 RGD:9068941
G BSN bassoon presynaptic cytomatrix protein JBrowse link 20 39,601,803 39,696,831 RGD:9068941
G CDH11 cadherin 11 JBrowse link 5 83,977,267 84,122,712 RGD:9068941
G EBF3 EBF transcription factor 3 JBrowse link 28 38,489,635 38,601,800 RGD:9068941
G FAM71A family with sequence similarity 71 member A JBrowse link 7 10,799,790 10,801,939 RGD:9068941
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 37 5,850,518 6,213,353 RGD:9068941
G HSPB7 heat shock protein family B (small) member 7 JBrowse link 2 81,628,051 81,631,939 RGD:9068941
G INTS6L integrator complex subunit 6 like JBrowse link X 105,996,058 106,052,347 RGD:9068941
G KBTBD7 kelch repeat and BTB domain containing 7 JBrowse link 22 9,388,467 9,391,099 RGD:9068941
G KDM6B lysine demethylase 6B JBrowse link 5 32,689,000 32,711,026 RGD:9068941
G MRPL28 mitochondrial ribosomal protein L28 JBrowse link 6 40,146,050 40,148,024 RGD:9068941
G PLCB2 phospholipase C beta 2 JBrowse link 30 7,472,208 7,493,106 RGD:9068941
G PTCH2 patched 2 JBrowse link 15 15,488,357 15,503,748 RGD:9068941
G SIM1 SIM bHLH transcription factor 1 JBrowse link 12 58,480,744 58,552,126 RGD:9068941
G ZNF787 zinc finger protein 787 JBrowse link 1 101,773,860 101,798,593 RGD:9068941
Neonatal Alloimmune Thrombocytopenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGA2B integrin subunit alpha 2b JBrowse link 9 19,049,643 19,064,019 RGD:9068941
G ITGB3 integrin subunit beta 3 JBrowse link 9 9,179,667 9,231,061 RGD:9068941
neonatal anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTB spectrin beta, erythrocytic JBrowse link 8 39,156,388 39,300,908 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 21 39,963,001 40,037,040 RGD:9068941
G GCK glucokinase RGD:9068941
G INS insulin JBrowse link 18 46,324,047 46,324,933 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 RGD:9068941
G PDX1 pancreatic and duodenal homeobox 1 JBrowse link 25 11,741,863 11,746,885 RGD:9068941
G TH tyrosine hydroxylase JBrowse link 18 46,327,136 46,334,973 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 1 92,278,521 92,824,303 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 122,217,317 122,231,862 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 10 28,744,404 28,751,544 RGD:9068941
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta JBrowse link 16 23,359,551 23,419,114 RGD:9068941
G NCOR1 nuclear receptor corepressor 1 JBrowse link 5 39,687,530 39,837,003 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 17 6,589,874 6,638,788 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 17 6,589,874 6,638,788 RGD:7240710
RGD:9068941
G IAH1 isoamyl acetate hydrolyzing esterase 1 (putative) JBrowse link 17 6,578,407 6,588,982 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 18 5,983,669 6,044,092 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 122,217,317 122,231,862 RGD:9068941
G NR1I2 nuclear receptor subfamily 1 group I member 2 JBrowse link 33 23,444,367 23,456,405 RGD:9068941
Neonatal Pulmonary Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 37 18,308,164 18,428,487 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 21 39,963,001 40,037,040 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 RGD:9068941
Netherton syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSG4 desmoglein 4 JBrowse link 7 58,101,294 58,135,376 RGD:9068941
G GBA glucosylceramidase beta JBrowse link 7 42,317,704 42,322,285 RGD:9068941
G SPINK5 serine peptidase inhibitor, Kazal type 5 JBrowse link 2 42,285,537 42,365,637 RGD:7240710
RGD:9068941
G ST14 suppression of tumorigenicity 14 JBrowse link 5 4,652,493 4,666,728 RGD:9068941
Neu-Laxova syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC608055 D-3-phosphoglycerate dehydrogenase JBrowse link 17 57,385,063 57,410,439 RGD:7240710
RGD:9068941
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 1 80,376,469 80,408,177 RGD:9068941
neutral lipid storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABHD5 abhydrolase domain containing 5 JBrowse link 23 2,584,813 2,619,204 RGD:7240710
RGD:9068941
G ANO10 anoctamin 10 JBrowse link 23 2,678,659 2,900,490 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 18 45,182,569 45,187,937 RGD:7240710
RGD:9068941
newborn respiratory distress syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANLN anillin actin binding protein JBrowse link 14 47,805,113 47,854,749 RGD:12801476
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G EPAS1 endothelial PAS domain protein 1 JBrowse link 10 48,550,836 48,636,776 RGD:9068941
G HMOX1 heme oxygenase 1 JBrowse link 10 28,744,404 28,751,544 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 20 50,818,715 50,827,914 RGD:9068941
G LOC610540 pulmonary surfactant-associated protein A-like JBrowse link 4 29,430,139 29,434,640 RGD:9068941
G MBL2 mannose binding lectin 2 JBrowse link 4 29,419,886 29,424,377 RGD:9068941
G MEGF10 multiple EGF like domains 10 JBrowse link 11 16,359,648 16,574,882 RGD:9068941
G NDST1 N-deacetylase and N-sulfotransferase 1 JBrowse link 4 58,580,231 58,639,750 RGD:9068941
G NPSR1 neuropeptide S receptor 1 JBrowse link 14 46,465,169 46,610,256 RGD:9068941
G SFTPB surfactant protein B JBrowse link 17 39,419,305 39,428,513 RGD:9068941
G SFTPC surfactant protein C JBrowse link 25 35,088,295 35,090,995 RGD:9068941
G SFTPD surfactant protein D JBrowse link 4 29,394,755 29,407,499 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G TNNT2 troponin T2, cardiac type JBrowse link 7 1,598,306 1,620,531 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 RGD:9068941
Nisch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLDN1 claudin 1 JBrowse link 34 22,303,058 22,319,101 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 103,027,980 103,055,139 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 6,438,068 6,479,731 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 2 21,688,822 21,725,021 RGD:7240710
RGD:9068941
G RAG1 recombination activating 1 JBrowse link 18 31,628,231 31,639,980 RGD:7240710
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 18 31,614,143 31,621,489 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 34 19,398,310 19,410,519 RGD:9068941
G AMIGO2 adhesion molecule with Ig like domain 2 JBrowse link 27 7,507,426 7,510,015 RGD:9068941
G CCL2 C-C motif chemokine ligand 2 JBrowse link 9 39,008,187 39,009,932 RGD:9068941
G CSNK2A1 casein kinase 2 alpha 1 JBrowse link 24 20,333,593 20,390,341 RGD:9068941
G CSNK2A2 casein kinase 2 alpha 2 JBrowse link 2 58,361,328 58,441,701 RGD:9068941
G CSNK2B casein kinase 2 beta JBrowse link 12 1,149,467 1,154,417 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 26 38,738,811 38,763,298 RGD:9068941
G FASLG Fas ligand JBrowse link 7 26,335,837 26,344,224 RGD:9068941
G GHRL ghrelin and obestatin prepropeptide JBrowse link 20 8,092,921 8,097,512 RGD:9068941
G GHSR growth hormone secretagogue receptor JBrowse link 34 36,691,132 36,694,304 RGD:9068941
G HIF1A hypoxia inducible factor 1 subunit alpha JBrowse link 8 36,614,045 36,656,692 RGD:9068941
G HMGB1 high mobility group box 1 JBrowse link 25 9,431,223 9,558,167 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 13 47,442,861 47,484,574 RGD:9068941
G MAPK8 mitogen-activated protein kinase 8 JBrowse link 28 323,361 410,367 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 37,949,560 37,975,573 RGD:9068941
G PPARG peroxisome proliferator activated receptor gamma JBrowse link 20 6,134,618 6,265,481 RGD:9068941
G PTAFR platelet activating factor receptor JBrowse link 2 72,225,386 72,256,353 RGD:9068941
G PTGER3 prostaglandin E receptor 3 JBrowse link 6 74,932,789 74,986,573 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 6 8,719,547 8,727,160 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 9 45,891,368 45,902,768 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G STAT3 signal transducer and activator of transcription 3 JBrowse link 9 20,539,660 20,614,631 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 RGD:9068941
periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAH11 dynein axonemal heavy chain 11 JBrowse link 14 35,468,080 35,784,621 RGD:9068941
G MBP myelin basic protein JBrowse link 1 2,841,801 2,952,553 RGD:9068941
G MCOLN1 mucolipin 1 JBrowse link 20 52,318,411 52,327,389 RGD:9068941
G PARP1 poly(ADP-ribose) polymerase 1 JBrowse link 7 38,503,072 38,542,556 RGD:9068941
G RPS6KC1 ribosomal protein S6 kinase C1 JBrowse link 7 11,152,316 11,329,244 RGD:9068941
G TMCO1 transmembrane and coiled-coil domains 1 JBrowse link 38 17,579,540 17,630,701 RGD:9068941
G TNF tumor necrosis factor JBrowse link 12 1,074,561 1,076,425 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 21 39,963,001 40,037,040 RGD:7240710
RGD:9068941
G GCK glucokinase RGD:7240710
RGD:9068941
G INS insulin JBrowse link 18 46,324,047 46,324,933 RGD:7240710
RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 RGD:7240710
RGD:9068941
G PDX1 pancreatic and duodenal homeobox 1 JBrowse link 25 11,741,863 11,746,885 RGD:9068941
G PTF1A pancreas associated transcription factor 1a JBrowse link 2 10,069,594 10,071,360 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 2 10,069,594 10,071,360 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 21 39,963,001 40,037,040 RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 RGD:9068941
persistent fetal circulation syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPS1 carbamoyl-phosphate synthase 1 JBrowse link 37 18,308,164 18,428,487 RGD:9068941
G FOXF1 forkhead box F1 JBrowse link 5 66,343,776 66,347,785 RGD:7240710
RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 16 15,054,196 15,072,454 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 26 37,853,148 37,913,176 RGD:9068941
G STRA6 stimulated by retinoic acid 6 JBrowse link 30 37,331,834 37,359,449 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 1 110,173,781 110,191,612 RGD:7240710
RGD:9068941
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 19 23,310,911 23,344,083 RGD:9068941
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 1 47,669,196 47,681,370 RGD:9068941
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 18 9,766,369 9,768,831 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 27 6,756,994 6,787,733 RGD:7240710
RGD:9068941
Posttransfusion Purpura term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITGB3 integrin subunit beta 3 JBrowse link 9 9,179,667 9,231,061 RGD:7240710
RGD:9068941
Premature Infant Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACE angiotensin I converting enzyme JBrowse link 9 11,497,182 11,516,362 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 9 26,183,852 26,199,927 RGD:9068941
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RECQL4 RecQ like helicase 4 JBrowse link 13 37,930,906 37,936,653 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 18 31,614,143 31,621,489 RGD:9068941
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK2 adenylate kinase 2 JBrowse link 2 68,342,769 68,371,769 RGD:7240710
RGD:9068941
Reticular Erythrokeratoderma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRT1 keratin 1 JBrowse link 27 2,422,150 2,427,160 RGD:9068941
G KRT10 keratin 10 JBrowse link 9 21,863,715 21,868,587 RGD:7240710
RGD:9068941
retinopathy of prematurity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADRB3 adrenoceptor beta 3 JBrowse link 16 27,445,601 27,446,796 RGD:9068941
G AGT angiotensinogen JBrowse link 4 8,681,192 8,694,059 RGD:9068941
G ANGPT2 angiopoietin 2 JBrowse link 16 58,404,049 58,458,344 RGD:9068941
G DLA-64 MHC class I DLA-64 JBrowse link 12 983,573 986,969 RGD:9068941
G EPO erythropoietin JBrowse link 6 8,994,211 8,995,954 RGD:9068941
G EPOR erythropoietin receptor JBrowse link 20 49,945,777 49,950,856 RGD:9068941
G FLT1 fms related tyrosine kinase 1 JBrowse link 25 11,231,958 11,410,379 RGD:9068941
G FZD4 frizzled class receptor 4 JBrowse link 21 12,699,886 12,709,132 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 18 21,329,688 21,410,257 RGD:9068941
G HLA-DRB1 MHC class II DLA DRB1 beta chain JBrowse link 12 2,151,409 2,164,564 RGD:9068941
G ICAM1 intercellular adhesion molecule 1 JBrowse link 20 50,818,715 50,827,914 RGD:9068941
G IGF1 insulin like growth factor 1 JBrowse link 15 41,203,320 41,275,964 RGD:9068941
G IGFBP3 insulin like growth factor binding protein 3 JBrowse link 16 1,021,855 1,027,604 RGD:9068941
G IHH Indian hedgehog signaling molecule JBrowse link 37 25,616,942 25,622,989 RGD:9068941
G IL10 interleukin 10 JBrowse link 7 5,933,285 5,937,057 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 17 37,019,329 37,033,388 RGD:9068941
G KDR kinase insert domain receptor JBrowse link 13 47,442,861 47,484,574 RGD:9068941
G NDP norrin cystine knot growth factor NDP JBrowse link X 37,949,560 37,975,573 RGD:9068941
G NOS1 nitric oxide synthase 1 JBrowse link 26 13,787,341 13,895,176 RGD:9068941
G NOS2 nitric oxide synthase 2 JBrowse link 9 42,171,821 42,210,217 RGD:9068941
G NOS3 nitric oxide synthase 3 JBrowse link 16 15,054,196 15,072,454 RGD:9068941
G PRSS23 serine protease 23 JBrowse link 21 12,792,212 12,813,067 RGD:9068941
G SERPINE1 serpin family E member 1 JBrowse link 6 8,719,547 8,727,160 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 9 45,891,368 45,902,768 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 12 12,209,032 12,224,978 RGD:9068941
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RECQL4 RecQ like helicase 4 JBrowse link 13 37,930,906 37,936,653 RGD:7240710
RGD:9068941
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADA adenosine deaminase JBrowse link 24 32,083,786 32,119,810 RGD:9068941
G AK2 adenylate kinase 2 JBrowse link 2 68,342,769 68,371,769 RGD:9068941
G C18H11orf74 chromosome 18 C11orf74 homolog JBrowse link 18 31,553,965 31,618,147 RGD:9068941
G CD247 CD247 molecule JBrowse link 7 30,961,169 30,972,143 RGD:9068941
G CD3D CD3d molecule JBrowse link 5 15,392,841 15,396,745 RGD:9068941
G CD3E CD3e molecule JBrowse link 5 15,403,724 15,415,259 RGD:9068941
G CD3G CD3g molecule JBrowse link 5 15,379,788 15,391,271 RGD:9068941
G DCLRE1C DNA cross-link repair 1C JBrowse link 2 21,688,822 21,725,021 RGD:9068941
G EPO erythropoietin JBrowse link 6 8,994,211 8,995,954 RGD:9068941
G IL2 interleukin 2 JBrowse link 19 17,750,780 17,756,394 RGD:9068941
G IL2RG interleukin 2 receptor subunit gamma JBrowse link X 55,480,846 55,488,485 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 4 72,633,528 72,668,242 RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 20 45,051,135 45,068,445 RGD:9068941
G MYH7 myosin heavy chain 7 JBrowse link 8 3,660,155 3,677,650 RGD:9068941
G MYOC myocilin JBrowse link 7 27,335,314 27,346,821 RGD:9068941
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 29 24,904 243,926 RGD:9068941
RGD:12801476
G PTPRC protein tyrosine phosphatase, receptor type C JBrowse link 7 4,155,876 4,282,151 RGD:9068941
G RAC2 Rac family small GTPase 2 JBrowse link 10 27,295,597 27,311,864 RGD:9068941
G RAG1 recombination activating 1 JBrowse link 18 31,628,231 31,639,980 RGD:9068941
G RAG2 recombination activating 2 JBrowse link 18 31,614,143 31,621,489 RGD:9068941
G RFX5 regulatory factor X5 JBrowse link 17 60,393,773 60,400,150 RGD:9068941
G RFXANK regulatory factor X associated ankyrin containing protein JBrowse link 20 43,977,860 43,984,063 RGD:9068941
G TAPBP TAP binding protein JBrowse link 12 2,740,276 2,751,808 RGD:9068941
G TFRC transferrin receptor JBrowse link 33 29,206,024 29,237,221 RGD:9068941
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 10 44,887,416 44,913,845 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 37 25,637,214 25,719,241 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 2 21,688,822 21,725,021 RGD:7240710
RGD:9068941
G LIG4 DNA ligase 4 JBrowse link 22 56,980,333 56,987,636 RGD:9068941
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 10 44,887,416 44,913,845 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 20 45,051,135 45,068,445 RGD:9068941
G PRKDC protein kinase, DNA-activated, catalytic subunit JBrowse link 29 24,904 243,926 RGD:9068941
G RAG1 recombination activating 1 JBrowse link 18 31,628,231 31,639,980 RGD:7240710
RGD:12801476
RGD:9068941
G RAG2 recombination activating 2 JBrowse link 18 31,614,143 31,621,489 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 20 45,051,135 45,068,445 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 5 15,392,841 15,396,745 RGD:9068941
G CD3E CD3e molecule JBrowse link 5 15,403,724 15,415,259 RGD:9068941
G CORO1A coronin 1A JBrowse link 6 18,161,850 18,167,915 RGD:9068941
G IL7R interleukin 7 receptor JBrowse link 4 72,633,528 72,668,242 RGD:7240710
RGD:9068941
G JAK3 Janus kinase 3 JBrowse link 20 45,051,135 45,068,445 RGD:9068941
G PTPRC protein tyrosine phosphatase, receptor type C JBrowse link 7 4,155,876 4,282,151 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 5 40,515,768 40,641,377 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 2 84,818,893 84,939,283 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 17 5,983,208 6,077,609 RGD:9068941
RGD:7240710
Stormorken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STIM1 stromal interaction molecule 1 JBrowse link 21 26,394,592 26,594,764 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 9 42,734,228 42,749,856 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 20 39,582,237 39,586,958 RGD:9068941
G STK4 serine/threonine kinase 4 JBrowse link 24 32,375,630 32,463,848 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 3 62,309,128 62,318,932 RGD:9068941
G HSPG2 heparan sulfate proteoglycan 2 JBrowse link 2 77,263,534 77,366,558 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 3 62,309,128 62,318,932 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 3 62,309,128 62,318,932 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 21 39,963,001 40,037,040 RGD:9068941
G GCK glucokinase RGD:9068941
G KCNJ11 potassium voltage-gated channel subfamily J member 11 JBrowse link 21 39,953,461 39,957,615 RGD:9068941
G ZFP57 ZFP57 zinc finger protein JBrowse link 35 26,267,358 26,269,429 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 1 35,418,470 35,529,230 RGD:9068941
G ZFP57 ZFP57 zinc finger protein JBrowse link 35 26,267,358 26,269,429 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 21 39,963,001 40,037,040 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 21 39,953,461 39,957,615 RGD:7240710
RGD:9068941
twin-to-twin transfusion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALB albumin JBrowse link 13 62,133,747 62,169,349 RGD:9068941
umbilical hernia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 3 36,852,082 37,164,930 RGD:9068941
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 16 27,029,902 27,080,514 RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 28 31,303,882 31,411,015 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 82,088,090 82,506,131 RGD:9068941
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 JBrowse link 2 84,320,529 84,343,562 RGD:9068941
vitamin K deficiency bleeding term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BGLAP bone gamma-carboxyglutamate protein JBrowse link 7 41,630,092 41,630,976 RGD:9068941
G GGCX gamma-glutamyl carboxylase JBrowse link 17 39,512,293 39,525,251 RGD:9068941
Wolman disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIPA lipase A, lysosomal acid type JBrowse link 26 38,892,771 38,918,441 RGD:9068941
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRP5 LDL receptor related protein 5 JBrowse link 18 49,439,494 49,555,375 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 4,775,702 4,925,027 RGD:9068941
G PUDP pseudouridine 5'-phosphatase JBrowse link X 4,185,144 4,325,866 RGD:9068941
G STS steroid sulfatase JBrowse link X 4,396,867 4,470,093 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 55,480,846 55,488,485 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 5 39,601,288 39,687,125 RGD:7240710
RGD:9068941

Term paths to the root
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  disease 11199
    Developmental Diseases 7196
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6254
        Infant, Newborn, Diseases 379
          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 + 18
          Neonatal Alloimmune Thrombocytopenia 2
          Neonatal Hyperbilirubinemia + 10
          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 + 90
          Rothmund-Thomson syndrome + 1
          Sclerema Neonatorum 0
          Wolman disease + 1
          asphyxia neonatorum + 14
          benign neonatal seizures + 10
          congenital nystagmus + 7
          congenital syphilis + 0
          congenital toxoplasmosis 0
          cystic fibrosis + 78
          fetal erythroblastosis + 23
          hydrophthalmos + 6
          ichthyosis + 57
          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 + 9
          vitamin K deficiency bleeding 2
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