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ONTOLOGY REPORT - ANNOTATIONS


Term:Disease Attributes
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Accession:DOID:9000817 term browser browse the term
Definition:Clinical characteristics of disease or illness.
Synonyms:exact_synonym: Disease Attribute
 primary_id: MESH:D020969;   RDO:0004731
For additional species annotation, visit the Alliance of Genome Resources.


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Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Ayme-Gripp Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link 10 12,989,135 12,994,495 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 2 19,823,234 19,824,804 RGD:8554872
RGD:7240710
RGD:11554173
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Pqlc1 PQ loop repeat containing 1 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
C6 Deficiency, Subtotal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C6 complement C6 JBrowse link 2 54,460,333 54,533,801 RGD:8554872
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872
RGD:11352608
RGD:11567236
RGD:11554173
RGD:1600471
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Tipin timeless interacting protein JBrowse link 8 69,753,363 69,768,640 RGD:8554872
Cardiofaciocutaneous Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
CARDIOFACIOCUTANEOUS SYNDROME 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:7240710
Cardiofaciocutaneous Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:7240710
RGD:8554872
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit JBrowse link 6 137,762,230 137,808,573 RGD:8554872
RGD:7240710
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 RGD:8554872
RGD:7240710
CHOPS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:8554872
RGD:7240710
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:8554872
Chronic Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb4 ATP binding cassette subfamily B member 4 JBrowse link 4 22,133,984 22,192,687 RGD:11554173
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:7240710
RGD:8554872
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:11554173
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:11554173
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:11554173
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:7240710
RGD:8554872
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 1 219,468,866 219,472,445 RGD:7240710
RGD:8554872
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
RGD:7240710
RGD:13592920
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk13 cyclin-dependent kinase 13 JBrowse link 17 49,833,194 49,922,932 RGD:8554872
RGD:7240710
RGD:11554173
Critical Illness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:11554173
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:11554173
Disease Progression term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca13 ATP binding cassette subfamily A member 13 JBrowse link 14 89,384,512 89,876,748 RGD:11554173
G Abca7 ATP binding cassette subfamily A member 7 JBrowse link 7 12,742,433 12,762,423 RGD:11554173
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:11554173
G Abcb4 ATP binding cassette subfamily B member 4 JBrowse link 4 22,133,984 22,192,687 RGD:11554173
G Abcc1 ATP binding cassette subfamily C member 1 JBrowse link 10 549,537 672,235 RGD:11554173
G Abcc6 ATP binding cassette subfamily C member 6 JBrowse link 1 101,954,786 102,013,252 RGD:11554173
G Abcd4 ATP binding cassette subfamily D member 4 JBrowse link 6 108,315,026 108,329,550 RGD:11554173
G Abcf1 ATP binding cassette subfamily F member 1 JBrowse link 20 3,309,914 3,322,828 RGD:11554173
G Abcf2 ATP binding cassette subfamily F member 2 JBrowse link 4 7,122,850 7,135,607 RGD:11554173
G Abt1 activator of basal transcription 1 JBrowse link 17 43,946,118 43,948,224 RGD:11554173
G Acad8 acyl-CoA dehydrogenase family, member 8 JBrowse link 8 28,023,401 28,044,967 RGD:11554173
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:11554173
G Amfr autocrine motility factor receptor JBrowse link 19 11,473,538 11,509,500 RGD:11554173
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 JBrowse link 15 27,849,943 27,852,083 RGD:11554173
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11554173
G Arfgap2 ADP-ribosylation factor GTPase activating protein 2 JBrowse link 3 80,081,541 80,093,659 RGD:11554173
G Arg2 arginase 2 JBrowse link 6 102,311,097 102,338,406 RGD:11554173
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:11554173
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:11554173
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11554173
G Bmi1 BMI1 proto-oncogene, polycomb ring finger JBrowse link 17 85,360,439 85,370,283 RGD:11554173
G Bop1 BOP1 ribosomal biogenesis factor JBrowse link 7 117,514,529 117,538,342 RGD:11554173
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:11554173
G Ccne1 cyclin E1 JBrowse link 1 94,485,830 94,495,112 RGD:11554173
G Cct7 chaperonin containing TCP1 subunit 7 JBrowse link 4 117,235,023 117,252,265 RGD:11554173
G Cd274 CD274 molecule JBrowse link 1 247,519,890 247,539,659 RGD:11554173
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:11554173
G Cdh2 cadherin 2 JBrowse link 18 8,146,971 8,366,037 RGD:11554173
G Cdkl2 cyclin dependent kinase like 2 JBrowse link 14 17,530,170 17,565,950 RGD:11554173
G Cga glycoprotein hormones, alpha polypeptide JBrowse link 5 50,362,491 50,393,368 RGD:11554173
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:11554173
G Clcn3 chloride voltage-gated channel 3 JBrowse link 16 32,448,821 32,520,649 RGD:11554173
G Cln3 CLN3, battenin JBrowse link 1 197,986,384 197,999,726 RGD:11554173
G Cnpy2 canopy FGF signaling regulator 2 JBrowse link 7 2,737,674 2,744,321 RGD:11554173
G Cops7a COP9 signalosome subunit 7A JBrowse link 4 157,479,549 157,486,944 RGD:11554173
G Cpsf1 cleavage and polyadenylation specific factor 1 JBrowse link 7 117,661,779 117,672,373 RGD:11554173
G Crybg1 crystallin beta-gamma domain containing 1 JBrowse link 20 48,927,942 49,123,724 RGD:11554173
G Csta cystatin A JBrowse link 11 67,555,792 67,566,980 RGD:11554173
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:11554173
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:11554173
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:11554173
G Ddb1 damage-specific DNA binding protein 1 JBrowse link 1 226,657,561 226,683,356 RGD:11554173
G Ddx58 DEXD/H-box helicase 58 JBrowse link 5 56,486,584 56,536,898 RGD:11554173
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:11554173
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:11554173
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:11554173
G Erbb2 erb-b2 receptor tyrosine kinase 2 JBrowse link 10 86,367,596 86,391,728 RGD:11554173
G Erbb3 erb-b2 receptor tyrosine kinase 3 JBrowse link 7 2,989,202 3,010,610 RGD:11554173
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:11554173
G Exosc5 exosome component 5 JBrowse link 1 82,452,104 82,461,607 RGD:11554173
G Fam168a family with sequence similarity 168, member A JBrowse link 1 165,723,278 165,880,612 RGD:11554173
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Fkbp2 FKBP prolyl isomerase 2 JBrowse link 1 222,232,349 222,235,113 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:11554173
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11554173
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:11554173
G Hikeshi Hikeshi, heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:11554173
G Hnrnpl heterogeneous nuclear ribonucleoprotein L JBrowse link 1 86,994,090 87,006,776 RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Idh3B isocitrate dehydrogenase 3 (NAD+) beta JBrowse link 3 122,808,564 122,813,638 RGD:11554173
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1rap interleukin 1 receptor accessory protein JBrowse link 11 77,456,648 77,593,208 RGD:11554173
G Ing1 inhibitor of growth family, member 1 JBrowse link 16 83,277,055 83,278,120 RGD:11554173
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:11554173
G Keap1 Kelch-like ECH-associated protein 1 JBrowse link 8 22,250,518 22,259,868 RGD:11554173
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:11554173
G M6pr mannose-6-phosphate receptor, cation dependent JBrowse link 4 155,084,755 155,093,896 RGD:11554173
G Mir196a microRNA 196a JBrowse link 7 144,584,235 144,584,344 RGD:11554173
G Mir200b microRNA 200b JBrowse link 5 173,490,144 173,490,238 RGD:11554173
G Mir200c microRNA 200c JBrowse link 4 157,236,786 157,236,854 RGD:11554173
G Mir21 microRNA 21 JBrowse link 10 73,902,210 73,902,301 RGD:11554173
G Mir346 microRNA 346 JBrowse link 16 11,250,054 11,250,151 RGD:11554173
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:11554173
G Mrpl13 mitochondrial ribosomal protein L13 JBrowse link 7 95,288,400 95,309,997 RGD:11554173
G Mrps11 mitochondrial ribosomal protein S11 JBrowse link 1 140,477,645 140,487,249 RGD:11554173
G Mrps18b mitochondrial ribosomal protein S18B JBrowse link 20 3,344,870 3,350,929 RGD:11554173
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:11554173
G Naxd NAD(P)HX dehydratase JBrowse link 16 83,326,228 83,342,711 RGD:11554173
G Nbas neuroblastoma amplified sequence JBrowse link 6 38,474,773 38,777,146 RGD:11554173
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 18 29,585,671 29,587,760 RGD:11554173
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:11554173
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:11554173
G Nop56 NOP56 ribonucleoprotein JBrowse link 3 122,803,726 122,808,564 RGD:11554173
G Pa2g4 proliferation-associated 2G4 JBrowse link 7 2,979,587 2,987,055 RGD:11554173
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:11554173
G Phb prohibitin JBrowse link 10 83,476,107 83,488,878 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:11554173
G Plpp1 phospholipid phosphatase 1 JBrowse link 2 44,664,076 44,726,820 RGD:11554173
G Polr3k RNA polymerase III subunit K JBrowse link 3 177,374,812 177,379,009 RGD:11554173
G Ppp2r1a protein phosphatase 2 scaffold subunit A alpha JBrowse link 1 60,717,386 60,736,629 RGD:11554173
G Prdx3 peroxiredoxin 3 JBrowse link 1 282,238,774 282,251,193 RGD:11554173
G Prdx4 peroxiredoxin 4 JBrowse link X 43,495,453 43,512,994 RGD:11554173
G Prep prolyl endopeptidase JBrowse link 20 50,172,618 50,269,992 RGD:11554173
G Prkab1 protein kinase AMP-activated non-catalytic subunit beta 1 JBrowse link 12 46,316,298 46,326,789 RGD:11554173
G Prpf19 pre-mRNA processing factor 19 JBrowse link 1 226,947,065 226,958,147 RGD:11554173
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Ptov1 PTOV1, extended AT-hook containing adaptor protein JBrowse link 1 100,859,346 100,866,917 RGD:11554173
G Ptpa protein phosphatase 2 phosphatase activator JBrowse link 3 8,982,122 9,012,585 RGD:11554173
G Ptprf protein tyrosine phosphatase, receptor type, F JBrowse link 5 137,036,936 137,112,930 RGD:11554173
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:11554173
G Rad23a RAD23 homolog A, nucleotide excision repair protein JBrowse link 19 25,949,488 25,956,677 RGD:11554173
G Ranbp10 RAN binding protein 10 JBrowse link 19 37,734,662 37,795,360 RGD:11554173
G Rap1gap Rap1 GTPase-activating protein JBrowse link 5 156,008,868 156,074,350 RGD:11554173
G Rchy1 ring finger and CHY zinc finger domain containing 1 JBrowse link 14 17,615,968 17,631,715 RGD:11554173
G Rpl13 ribosomal protein L13 JBrowse link 19 55,917,489 55,920,040 RGD:11554173
G Rpl15 ribosomal protein L15 JBrowse link 15 8,188,717 8,192,153 RGD:11554173
G Rpl18 ribosomal protein L18 JBrowse link 1 101,700,910 101,703,551 RGD:11554173
G Rps15 ribosomal protein S15 JBrowse link 7 12,282,134 12,283,573 RGD:11554173
G Rps19 ribosomal protein S19 JBrowse link 1 81,750,873 81,756,629 RGD:11554173
G Rps21-ps1 ribosomal protein S21, pseudogene 1 JBrowse link 5 159,606,647 159,606,990 RGD:11554173
G Rps6 ribosomal protein S6 JBrowse link 5 105,197,821 105,200,681 RGD:11554173
G Rrm1 ribonucleotide reductase catalytic subunit M1 JBrowse link 1 167,538,387 167,562,688 RGD:11554173
G Rrp9 ribosomal RNA processing 9, U3 small nucleolar RNA binding protein JBrowse link 8 115,179,899 115,188,551 RGD:11554173
G Rxrb retinoid X receptor beta JBrowse link 20 3,822,673 3,829,138 RGD:11554173
G Serbp1 Serpine1 mRNA binding protein 1 JBrowse link 4 98,027,563 98,044,717 RGD:11554173
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:11554173
G Snx5 sorting nexin 5 JBrowse link 3 138,378,032 138,397,944 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Sod3 superoxide dismutase 3 JBrowse link 14 60,958,583 60,971,143 RGD:11554173
G Srebf2 sterol regulatory element binding transcription factor 2 JBrowse link 7 123,381,082 123,438,605 RGD:11554173
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:11554173
G Suclg1 succinate-CoA ligase, alpha subunit JBrowse link 4 101,181,315 101,210,692 RGD:11554173
G Sympk symplekin JBrowse link 1 79,931,097 79,959,461 RGD:11554173
G Taf15 TATA-box binding protein associated factor 15 JBrowse link 10 70,689,863 70,721,892 RGD:11554173
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173
G Tmem63a transmembrane protein 63a JBrowse link 13 99,219,585 99,253,176 RGD:11554173
G Top2a DNA topoisomerase II alpha JBrowse link 10 86,901,467 86,930,947 RGD:11554173
G Trap1 TNF receptor-associated protein 1 JBrowse link 10 11,724,032 11,757,682 RGD:11554173
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:11554173
G Ubxn1 UBX domain protein 1 JBrowse link 1 225,067,953 225,071,944 RGD:11554173
G Urm1 ubiquitin related modifier 1 JBrowse link 3 8,389,024 8,405,868 RGD:11554173
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:11554173
G Vegfb vascular endothelial growth factor B JBrowse link 1 222,237,000 222,242,786 RGD:11554173
G Wdr46 WD repeat domain 46 JBrowse link 20 5,447,860 5,455,632 RGD:11554173
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:11554173
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:11554173
G Yy1 YY1 transcription factor JBrowse link 6 132,702,443 132,726,848 RGD:11554173
G Zeb1 zinc finger E-box binding homeobox 1 JBrowse link 17 54,656,627 54,714,920 RGD:11554173
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:11554173
G Zfp593 zinc finger protein 593 JBrowse link 5 152,462,522 152,464,850 RGD:11554173
Disease Susceptibility term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:11554173
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:11554173
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:11554173
Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:11554173
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 61,758,754 62,013,194 RGD:11554173
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 15 28,612,932 28,672,574 RGD:11554173
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:11554173
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:11554173
G Jag1 jagged 1 JBrowse link 3 130,079,361 130,114,781 RGD:11554173
G Msl3 MSL complex subunit 3 JBrowse link X 27,015,826 27,033,562 RGD:11554173
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
RGD:11554173
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
RGD:7240710
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2-like JBrowse link 3 121,796,221 121,822,352 RGD:8554872
RGD:7240710
Geleophysic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:8554872
RGD:7240710
Genetic Predisposition to Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:11554173
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:11554173
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11554173
G Adh1 alcohol dehydrogenase 1 (class I) JBrowse link 2 243,550,655 243,562,243 RGD:11554173
G Adora1 adenosine A1 receptor JBrowse link 13 51,042,111 51,076,913 RGD:11554173
G Adora2a adenosine A2a receptor JBrowse link 20 14,265,251 14,282,873 RGD:11554173
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:11554173
G Aldh2 aldehyde dehydrogenase 2 family (mitochondrial) JBrowse link 12 40,466,418 40,498,813 RGD:11554173
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 JBrowse link 15 27,849,943 27,852,083 RGD:11554173
G Bap1 Brca1 associated protein 1 JBrowse link 16 7,336,685 7,345,511 RGD:11554173
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 JBrowse link 1 147,713,879 147,814,410 RGD:11554173
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:11554173
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:11554173
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:11554173
G Fcer1g Fc fragment of IgE receptor Ig JBrowse link 13 89,601,894 89,606,326 RGD:11554173
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:11554173
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Kcnj8 potassium voltage-gated channel subfamily J member 8 JBrowse link 4 176,783,287 176,789,143 RGD:11554173
G LOC100364500 RT1 class I, locus CE11-like JBrowse link 20 2,704,153 2,707,111 RGD:11554173
G Mt2A metallothionein 2A JBrowse link 19 11,307,966 11,308,740 RGD:11554173
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:11554173
G Rad51 RAD51 recombinase JBrowse link 3 110,918,240 110,942,920 RGD:11554173
G Tgfa transforming growth factor alpha JBrowse link 4 117,961,877 118,045,923 RGD:11554173
G Xrcc3 X-ray repair cross complementing 3 JBrowse link 6 136,366,917 136,380,751 RGD:11554173
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp148 zinc finger protein 148 JBrowse link 11 70,509,909 70,618,422 RGD:8554872
RGD:7240710
RGD:11554173
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:7240710
RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:8554872
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:12880042
RGD:11554173
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fto FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dstyk dual serine/threonine and tyrosine protein kinase JBrowse link 13 49,195,325 49,243,327 RGD:7240710
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 15 109,734,092 110,046,729 RGD:7240710
RGD:8554872
RGD:12911215
RGD:12914762
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc80 unc-80 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 RGD:8554872
RGD:7240710
RGD:11554173
RGD:11528248
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbck TBC1 domain containing kinase JBrowse link 2 237,751,646 237,958,497 RGD:8554872
RGD:7240710
RGD:11554173
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo11 F-box protein 11 JBrowse link 6 11,662,356 11,737,427 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 4 145,264,445 145,280,943 RGD:8554872
RGD:7240710
RGD:11554173
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud6b OTU domain containing 6B JBrowse link 5 28,333,019 28,350,093 RGD:8554872
RGD:7240710
RGD:11554173
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnk cyclin K JBrowse link 6 132,090,235 132,113,560 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11b BCL11B, BAF complex component JBrowse link 6 131,834,097 131,927,251 RGD:8554872
RGD:7240710
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
Kaufman Oculocerebrofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Faxc failed axon connections homolog JBrowse link 5 36,076,565 36,135,884 RGD:8554872
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Slc25a47 solute carrier family 25, member 47 JBrowse link 6 132,762,306 132,767,940 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 JBrowse link 2 143,433,102 143,605,757 RGD:8554872
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:7240710
RGD:11554173
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:7240710
RGD:8554872
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium voltage-gated channel subfamily J member 6 JBrowse link 11 35,011,007 35,262,362 RGD:7240710
RGD:8554872
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 RGD:8554872
RGD:7240710
RGD:11554173
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
RGD:7240710
RGD:11554173
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:7240710
RGD:8554872
RGD:12832751
RGD:11554173
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
RGD:7240710
RGD:11554173
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:8554872
RGD:11554173
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 RGD:8554872
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt-related transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:7240710
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:7240710
RGD:8554872
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:7240710
RGD:8554872
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 RGD:8554872
Mycobacterium Tuberculosis, Susceptibility To Infection By term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8554872
RGD:7240710
G Cd209 CD209 molecule JBrowse link 12 2,406,879 2,413,324 RGD:8554872
RGD:7240710
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:5491205
G Cish cytokine inducible SH2-containing protein JBrowse link 8 116,054,547 116,059,494 RGD:8554872
RGD:7240710
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8554872
RGD:7240710
G Ifngr1 interferon gamma receptor 1 JBrowse link 1 15,062,380 15,080,815 RGD:8554872
RGD:7240710
G Il12rb1 interleukin 12 receptor subunit beta 1 JBrowse link 16 20,370,722 20,383,576 RGD:8554872
G Irgm immunity-related GTPase M JBrowse link 10 34,213,885 34,221,968 RGD:7240710
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 JBrowse link 8 116,012,126 116,046,012 RGD:8554872
G Mc3r melanocortin 3 receptor JBrowse link 3 170,252,901 170,253,998 RGD:7240710
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11554173
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:8554872
RGD:7240710
G Sp110 SP110 nuclear body protein JBrowse link 9 92,593,909 92,618,867 RGD:8554872
RGD:7240710
G Sp140 SP140 nuclear body protein JBrowse link 9 92,618,088 92,665,431 RGD:8554872
G Tirap TIR domain containing adaptor protein JBrowse link 8 36,382,029 36,399,625 RGD:8554872
RGD:7240710
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:8554872
RGD:7240710
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:7240710
RGD:8554872
RGD:11554173
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:13592920
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link 10 90,550,147 90,552,057 RGD:8554872
RGD:7240710
Omodysplasia Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 RGD:7240710
RGD:11554173
RGD:8554872
Opitz Trigonocephaly Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link 11 57,108,757 57,183,855 RGD:7240710
RGD:8554872
RGD:11554173
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas associated transcription factor 1a JBrowse link 17 86,199,623 86,201,477 RGD:7240710
RGD:11554173
RGD:8554872
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1 X-linked receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
RGD:7240710
RGD:11554173
Pituitary Hormone Deficiency, Combined, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Hesx1 HESX homeobox 1 JBrowse link 16 2,616,538 2,636,708 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:7240710
RGD:8554872
Pneumonia, Ventilator-Associated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gc GC, vitamin D binding protein JBrowse link 14 20,267,023 20,302,577 RGD:5509873
Recurrence term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11554173
G Ccne1 cyclin E1 JBrowse link 1 94,485,830 94,495,112 RGD:11554173
G Cd274 CD274 molecule JBrowse link 1 247,519,890 247,539,659 RGD:11554173
G Chd5 chromodomain helicase DNA binding protein 5 JBrowse link 5 169,519,212 169,572,059 RGD:11554173
G Crabp2 cellular retinoic acid binding protein 2 JBrowse link 2 187,322,416 187,326,794 RGD:11554173
G Crlf2 cytokine receptor-like factor 2 JBrowse link 14 1,456,843 1,461,543 RGD:11554173
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:11554173
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:11554173
G Ctsl cathepsin L JBrowse link 17 1,873,105 1,879,266 RGD:11554173
G Cxcl12 C-X-C motif chemokine ligand 12 JBrowse link 4 149,261,044 149,273,891 RGD:11554173
G Cxcl13 C-X-C motif chemokine ligand 13 JBrowse link 14 15,253,146 15,258,221 RGD:11554173
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:11554173
G Dock8 dedicator of cytokinesis 8 JBrowse link 1 242,934,685 243,153,472 RGD:11554173
G Eef2 eukaryotic translation elongation factor 2 JBrowse link 7 11,401,501 11,406,771 RGD:11554173
G Erbb2 erb-b2 receptor tyrosine kinase 2 JBrowse link 10 86,367,596 86,391,728 RGD:11554173
G Erbb3 erb-b2 receptor tyrosine kinase 3 JBrowse link 7 2,989,202 3,010,610 RGD:11554173
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:11554173
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:11554173
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:11554173
G Mgmt O-6-methylguanine-DNA methyltransferase JBrowse link 1 209,237,255 209,464,189 RGD:11554173
G Mmp7 matrix metallopeptidase 7 JBrowse link 8 5,893,253 5,900,965 RGD:11554173
G Nt5c2 5'-nucleotidase, cytosolic II JBrowse link 1 266,652,966 266,782,935 RGD:11554173
G Pgr progesterone receptor JBrowse link 8 7,128,656 7,187,796 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 JBrowse link 13 108,689,916 108,841,593 RGD:11554173
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:11554173
G Top2a DNA topoisomerase II alpha JBrowse link 10 86,901,467 86,930,947 RGD:11554173
G Vegfc vascular endothelial growth factor C JBrowse link 16 40,440,371 40,555,178 RGD:11554173
G Yap1 yes-associated protein 1 JBrowse link 8 6,133,014 6,204,240 RGD:11554173
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
RGD:10053614
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
Severe Growth Restriction with Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:7240710
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 RGD:8554872
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:7240710
RGD:8554872
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F JBrowse link 6 10,565,841 10,593,972 RGD:8554872
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc2 exosome component 2 JBrowse link 3 10,151,734 10,161,997 RGD:8554872
RGD:7240710
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poc1a POC1 centriolar protein A JBrowse link 8 114,982,764 115,050,844 RGD:7240710
RGD:8554872
Trichohepatoenteric Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Nelfe negative elongation factor complex member E JBrowse link 20 4,530,328 4,536,085 RGD:8554872
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:8554872
RGD:11554173
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:7240710
RGD:8554872
Trichohepatoenteric Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:7240710
RGD:8554872
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 7 90,085,895 90,320,430 RGD:7240710
RGD:8554872
Tumor Predisposition Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC, WNT signaling pathway regulator JBrowse link 18 27,011,710 27,106,323 RGD:8554872
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G Bap1 Brca1 associated protein 1 JBrowse link 16 7,336,685 7,345,511 RGD:7240710
RGD:8554872
G Bard1 BRCA1 associated RING domain 1 JBrowse link 9 78,297,723 78,368,777 RGD:8554872
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:8554872
G Cdh1 cadherin 1 JBrowse link 19 38,768,467 38,838,395 RGD:8554872
G Cdk4 cyclin-dependent kinase 4 JBrowse link 7 70,345,971 70,352,689 RGD:8554872
G Cdkn2a cyclin-dependent kinase inhibitor 2A JBrowse link 5 107,823,323 107,832,405 RGD:8554872
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:8554872
G Epm2aip1 EPM2A interacting protein 1 JBrowse link 8 119,524,039 119,531,387 RGD:8554872
G Fh fumarate hydratase JBrowse link 13 93,651,486 93,677,371 RGD:8554872
G Flcn folliculin JBrowse link 10 46,153,185 46,172,331 RGD:8554872
G Max MYC associated factor X JBrowse link 6 99,984,260 100,011,460 RGD:8554872
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:8554872
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:8554872
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:8554872
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
G Mutyh mutY DNA glycosylase JBrowse link 5 135,663,328 135,675,348 RGD:8554872
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Osgin2 oxidative stress induced growth inhibitor family member 2 JBrowse link 5 29,663,131 29,683,634 RGD:8554872
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:8554872
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:8554872
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:8554872
G Rad51d RAD51 paralog D JBrowse link 10 70,222,703 70,241,352 RGD:8554872
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 JBrowse link 1 226,543,671 226,572,414 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
G Tmem127 transmembrane protein 127 JBrowse link 3 119,677,575 119,690,371 RGD:8554872
G Toe1 target of EGR1, exonuclease JBrowse link 5 135,659,733 135,663,299 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:8554872
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:8554872
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link 1 262,020,903 263,138,299 RGD:8554872
RGD:11554173
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 JBrowse link 2 206,928,708 206,997,915 RGD:11554173
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link 1 262,020,903 263,138,299 RGD:7240710
Urofacial Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 JBrowse link 2 206,928,708 206,997,915 RGD:7240710
RGD:8554872
Uruguay Faciocardiomusculoskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:8554872
Verheij Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Puf60 poly-U binding splicing factor 60 JBrowse link 7 117,129,237 117,140,234 RGD:7240710
RGD:8554872
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qrich1 glutamine-rich 1 JBrowse link 8 117,305,803 117,346,738 RGD:8554872
RGD:7240710

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  disease 14759
    Pathological Conditions, Signs and Symptoms 7254
      Pathologic Processes 4755
        Disease Attributes 372
          Acute Disease 0
          Asymptomatic Diseases + 0
          Catastrophic Illness 0
          Chronic Disease + 1
          Convalescence 0
          Critical Illness 2
          Disease Progression + 142
          Disease Resistance 0
          Disease Susceptibility + 91
          Diseases in Twins 0
          Emergencies 0
          Facies + 129
          Iatrogenic Disease + 1
          Late Onset Disorders 0
          Neglected Diseases 0
          Rare Diseases 0
          Recurrence + 32
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