ONTOLOGY REPORT - ANNOTATIONS


Term:DNA Repair-Deficiency Disorders
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Accession:DOID:9008840 term browser browse the term
Definition:Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
Synonyms:exact_synonym: Chromosome Instability Syndrome;   Chromosome Instability Syndromes;   DNA Repair Deficiency;   DNA Repair-Deficiencies;   DNA Repair-Deficiency Disorder;   Deficient DNA Repair;   Deficient DNA Repairs
 primary_id: MESH:D049914;   RDO:0001547
For additional species annotation, visit the Alliance of Genome Resources.


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DNA Repair-Deficiency Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:11554173
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:13207506
G Wrn Werner syndrome RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:11554173
adenosine deaminase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:7240710
RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
ataxia telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:7240710
RGD:8554872
RGD:12879399
RGD:11554173
RGD:10053611
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo RGD:12879399
G Bak1 BCL2-antagonist/killer 1 JBrowse link 20 5,609,620 5,618,899 RGD:14394817
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:14394817
G Bik BCL2-interacting killer JBrowse link 7 124,390,924 124,410,449 RGD:14394817
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:9681455
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8693328
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:8693328
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11529801
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8554872
RGD:11554173
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:11554173
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 JBrowse link 10 55,013,686 55,078,986 RGD:7240710
RGD:8554872
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Ataxia-Telangiectasia Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8554872
G RGD1311251 similar to RIKEN cDNA 4930550C14 JBrowse link 8 57,983,168 58,012,474 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:7240710
RGD:8554872
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:7240710
RGD:8554872
Bloom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Blm BLM RecQ like helicase JBrowse link 1 142,246,773 142,332,616 RGD:1580056
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1599420
G Lig1 DNA ligase 1 JBrowse link 1 75,356,212 75,394,757 RGD:8554872
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase JBrowse link 7 99,677,295 99,900,765 RGD:13592920
G Ung uracil-DNA glycosylase JBrowse link 12 48,246,593 48,255,547 RGD:11554173
Cerebrooculofacioskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
Cerebrooculofacioskeletal Syndrome 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 80,293,574 80,307,334 RGD:8554872
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:10401101
RGD:10401092
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
Cockayne syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401080
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:10401087
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:10401090
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
RGD:11554173
RGD:11567232
RGD:10401100
RGD:10401095
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:7246919
RGD:11064547
RGD:8554872
RGD:11554173
RGD:10401108
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003139
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:10003139
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:10401087
Cockayne Syndrome A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:10401106
RGD:8554872
RGD:7240710
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
Cockayne Syndrome B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:8554872
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 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
coronin-1A deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:7240710
RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 JBrowse link 1 198,199,032 198,209,178 RGD:8554872
G Mapk3 mitogen activated protein kinase 3 JBrowse link 1 198,192,773 198,198,975 RGD:8554872
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8554872
G Rhoh ras homolog family member H JBrowse link 14 43,961,756 43,992,587 RGD:8554872
G Tbx6 T-box 6 JBrowse link 1 198,214,797 198,218,706 RGD:8554872
G Ypel3 yippee-like 3 JBrowse link 1 198,210,525 198,213,821 RGD:8554872
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:7240710
RGD:8554872
RGD:11554173
Fanconi anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
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:734658
RGD:8554872
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:11554173
RGD:8554872
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link 4 145,559,206 145,574,438 RGD:8554872
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:8554872
RGD:11554173
RGD:11344919
RGD:11344914
RGD:11344899
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:8554872
G Fancc FA complementation group C JBrowse link 17 826,512 955,703 RGD:8554872
RGD:11554173
RGD:11344914
RGD:11041907
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:1601137
RGD:8554872
RGD:11554173
RGD:11344904
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
G Fance FA complementation group E JBrowse link 20 7,888,927 7,906,142 RGD:8554872
G Fancf FA complementation group F JBrowse link 1 107,229,516 107,232,321 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:1599879
RGD:8554872
RGD:11554173
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
RGD:11344925
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:8554872
RGD:11554173
G Fancm FA complementation group M JBrowse link 6 86,823,195 86,877,067 RGD:8554872
RGD:11554173
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11049505
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450839
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450839
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11049161
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049161
G Mc1r melanocortin 1 receptor JBrowse link 19 56,215,420 56,219,987 RGD:8554872
G Mx2 MX dynamin like GTPase 2 JBrowse link 11 38,035,306 38,066,185 RGD:11554173
G Npepo aminopeptidase O JBrowse link 17 507,389 825,062 RGD:8554872
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482802
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:11554173
RGD:8554872
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link 10 11,787,756 11,808,326 RGD:8554872
RGD:11554173
G Spire2 spire-type actin nucleation factor 2 JBrowse link 19 56,136,904 56,175,500 RGD:8554872
G Tcf25 transcription factor 25 JBrowse link 19 56,178,905 56,213,299 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450524
RGD:11554173
RGD:11049161
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872
G Zfp276 zinc finger protein (C2H2 type) 276 JBrowse link 19 56,054,250 56,067,767 RGD:8554872
Fanconi anemia complementation group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:8554872
RGD:7240710
G Zfp276 zinc finger protein (C2H2 type) 276 JBrowse link 19 56,054,250 56,067,767 RGD:8554872
Fanconi anemia complementation group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:7240710
RGD:8554872
Fanconi anemia complementation group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancc FA complementation group C JBrowse link 17 826,512 955,703 RGD:7240710
RGD:8554872
G Npepo aminopeptidase O JBrowse link 17 507,389 825,062 RGD:8554872
Fanconi anemia complementation group D1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:7240710
RGD:8554872
Fanconi anemia complementation group D2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:7240710
RGD:8554872
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
Fanconi anemia complementation group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fance FA complementation group E JBrowse link 20 7,888,927 7,906,142 RGD:7240710
RGD:8554872
Fanconi anemia complementation group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancf FA complementation group F JBrowse link 1 107,229,516 107,232,321 RGD:7240710
RGD:8554872
Fanconi anemia complementation group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:7240710
RGD:8554872
Fanconi anemia complementation group I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:7240710
RGD:8554872
RGD:11344924
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Fanconi anemia complementation group J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:7240710
RGD:8554872
RGD:11251781
Fanconi anemia complementation group L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:7240710
RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872
Fanconi Anemia Complementation Group M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancm FA complementation group M JBrowse link 6 86,823,195 86,877,067 RGD:7240710
RGD:8554872
Fanconi anemia complementation group N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:7240710
RGD:8554872
Fanconi anemia complementation group O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:7240710
RGD:8554872
Fanconi anemia complementation group P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link 10 11,787,756 11,808,326 RGD:7240710
RGD:8554872
Fanconi anemia complementation group Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872
Fanconi anemia complementation group R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51 RAD51 recombinase JBrowse link 3 110,918,240 110,942,920 RGD:8554872
RGD:7240710
Fanconi anemia complementation group T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube2t ubiquitin-conjugating enzyme E2T JBrowse link 13 51,790,877 51,801,379 RGD:8554872
RGD:7240710
Fanconi anemia complementation group U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc2 X-ray repair cross complementing 2 JBrowse link 4 5,842,013 5,860,516 RGD:8554872
RGD:7240710
Fanconi anemia complementation group V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mad2l2 mitotic arrest deficient 2 like 2 JBrowse link 5 164,943,183 164,956,255 RGD:8554872
RGD:7240710
Fanconi Anemia Complementation Group W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rfwd3 ring finger and WD repeat domain 3 JBrowse link 19 42,960,597 42,971,894 RGD:8554872
RGD:7240710
hereditary nonpolyposis colorectal cancer type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:7240710
RGD:8554872
RGD:11554173
hereditary nonpolyposis colorectal cancer type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:7240710
RGD:8554872
hereditary nonpolyposis colorectal cancer type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:7240710
RGD:8554872
hereditary nonpolyposis colorectal cancer type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:7240710
RGD:8554872
hereditary nonpolyposis colorectal cancer type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:7240710
RGD:8554872
hereditary nonpolyposis colorectal cancer type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:7240710
RGD:8554872
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orai1 ORAI calcium release-activated calcium modulator 1 JBrowse link 12 38,981,903 38,995,570 RGD:7240710
RGD:8554872
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stim1 stromal interaction molecule 1 JBrowse link 1 167,373,894 167,533,412 RGD:7240710
RGD:8554872
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 9 43,331,149 43,353,097 RGD:7240710
RGD:8554872
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin-like glycosyltransferase 3 JBrowse link 15 48,420,419 48,465,171 RGD:8554872
RGD:7240710
janus kinase-3 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
Li-Fraumeni syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:11554173
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:2290542
RGD:8554872
RGD:11554173
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:8554872
Li-Fraumeni Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7240710
RGD:8554872
Li-Fraumeni Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chek2 checkpoint kinase 2 JBrowse link 12 51,845,574 51,878,098 RGD:7240710
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
Li-Fraumeni-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam189a1 family with sequence similarity 189, member A1 JBrowse link 1 125,552,990 125,967,984 RGD:8554872
G Nsmce3 NSE3 homolog, SMC5-SMC6 complex component JBrowse link 1 125,663,987 125,665,314 RGD:8554872
RGD:7240710
Lynch syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 JBrowse link 12 12,738,784 12,748,345 RGD:8554872
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Cd44 CD44 molecule (Indian blood group) JBrowse link 3 92,695,083 92,783,820 RGD:11554173
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 JBrowse link 1 83,653,248 83,662,118 RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:8554872
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:8554872
RGD:11554173
G Epm2aip1 EPM2A interacting protein 1 JBrowse link 8 119,524,039 119,531,387 RGD:8554872
G Fbxo11 F-box protein 11 JBrowse link 6 11,662,356 11,737,427 RGD:8554872
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792228
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792228
G Lrrfip2 LRR binding FLII interacting protein 2 JBrowse link 8 119,381,666 119,484,125 RGD:8554872
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:1625106
RGD:8554872
RGD:11554173
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:1600415
RGD:8554872
RGD:11554173
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:1625106
RGD:8554872
RGD:11554173
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
RGD:11554173
G Ormdl1 ORMDL sphingolipid biosynthesis regulator 1 JBrowse link 9 53,110,628 53,120,454 RGD:8554872
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:1599137
RGD:8554872
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:1599142
RGD:8554872
RGD:11554173
RGD:1599137
G Rnasel ribonuclease L JBrowse link 13 71,188,712 71,202,636 RGD:2292000
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:1599900
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:1599900
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:1599900
G Stpg4 sperm-tail PG-rich repeat containing 4 JBrowse link 6 11,014,596 11,063,509 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:2306282
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:11554173
RGD:8554872
G Trank1 tetratricopeptide repeat and ankyrin repeat containing 1 JBrowse link 8 119,566,509 119,644,249 RGD:8554872
Lynch syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:11554173
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:8554872
RGD:11554173
RGD:7240710
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:11554173
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 20 3,979,302 3,989,669 RGD:7240710
RGD:8554872
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:7240710
RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:7240710
RGD:8554872
MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Borcs8 BLOC-1 related complex subunit 8 JBrowse link 16 21,022,500 21,029,163 RGD:8554872
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:1600188
RGD:8554872
RGD:7240710
RGD:5491200
G Nr2c2ap nuclear receptor 2C2-associated protein JBrowse link 16 21,036,648 21,039,481 RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:8554872
RGD:7240710
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:8554872
RGD:7240710
G Rfxap regulatory factor X-associated protein JBrowse link 2 144,003,453 144,007,636 RGD:8554872
RGD:7240710
Muir-Torre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhit fragile histidine triad diadenosine triphosphatase JBrowse link 15 15,697,292 16,862,873 RGD:13592920
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:7240710
RGD:8554872
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:7240710
RGD:8554872
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm4 minichromosome maintenance complex component 4 JBrowse link 11 89,511,191 89,524,892 RGD:7240710
RGD:8554872
Nijmegen breakage syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8554872
RGD:11554173
RGD:7240710
G Osgin2 oxidative stress induced growth inhibitor family member 2 JBrowse link 5 29,663,131 29,683,634 RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:8554872
G Slc19a3 solute carrier family 19 member 3 JBrowse link 9 88,762,775 88,828,553 RGD:8554872
Nijmegen Breakage Syndrome-Like Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:7240710
RGD:8554872
Omenn syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
RGD:8554872
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599403
RGD:7240710
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 80,293,574 80,307,334 RGD:7240710
RGD:8554872
G Gtf2h5 general transcription factor IIH subunit 5 JBrowse link 1 46,978,345 46,985,032 RGD:7246919
RGD:8554872
G Mplkip M-phase specific PLK1 interacting protein JBrowse link 17 49,955,060 49,990,982 RGD:8554872
rapadilino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:7240710
RGD:8554872
recombinase activating gene 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:8554872
reticular dysgenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:7240710
RGD:8554872
RGD:11100026
Rothmund-Thomson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Recql4 RecQ like helicase 4 JBrowse link 7 117,765,892 117,773,128 RGD:1599421
RGD:8554872
RGD:11554173
RGD:7240710
severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ada adenosine deaminase JBrowse link 3 160,115,840 160,139,947 RGD:1300353
RGD:8554872
G Ak2 adenylate kinase 2 JBrowse link 5 147,185,474 147,204,050 RGD:11554173
G Cd247 Cd247 molecule JBrowse link 13 83,996,045 84,071,408 RGD:8554872
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:1549420
RGD:8554872
RGD:11554173
G Cd3e CD3e molecule JBrowse link 8 49,297,604 49,309,370 RGD:8554872
RGD:11554173
G Cd3g CD3g molecule JBrowse link 8 49,274,553 49,280,943 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:1601049
RGD:8554872
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:2313831
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:1600060
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:1600009
RGD:8554872
G Il7r interleukin 7 receptor RGD:1600151
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
RGD:11554173
RGD:11531109
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Myoc myocilin JBrowse link 13 80,517,531 80,527,928 RGD:8554872
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:1599202
RGD:8696027
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:1599983
G Rac2 Rac family small GTPase 2 JBrowse link 7 119,769,708 119,797,111 RGD:8554872
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:1599402
RGD:8554872
RGD:7204131
RGD:1599403
G Rag1em1Ang recombination activating gene 1; zinc finger nuclease induced mutant 1, Ignacio Anegon RGD:7204134
G Rag1em1Ztm recombination activating gene 1; zinc finger nuclease induced mutant 1, Zentrales Tierlaboratorium, Medizinische Hochschule Hannover RGD:7204131
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:1599402
RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:1599743
RGD:1599742
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:1599746
G RGD1309730 similar to RIKEN cDNA B230118H07 JBrowse link 3 91,086,186 91,195,981 RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:1599296
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11554173
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:1599880
RGD:8554872
RGD:11554173
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:7240710
RGD:8554872
severe combined immunodeficiency with sensitivity to ionizing radiation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:7240710
RGD:8554872
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:8554872
Severe Combined Immunodeficiency, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:8554872
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:8554872
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:13592920
G Rag1 recombination activating 1 JBrowse link 3 91,206,394 91,217,491 RGD:7240710
RGD:8554872
G Rag2 recombination activating 2 JBrowse link 3 91,191,837 91,200,134 RGD:7240710
RGD:8554872
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 16 20,107,471 20,120,678 RGD:1600254
RGD:7240710
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:13592920
G Il7r interleukin 7 receptor RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:7240710
RGD:8554872
T-cell immunodeficiency, congenital alopecia, and nail dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:7240710
RGD:8554872
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stk4 serine/threonine kinase 4 JBrowse link 3 160,467,552 160,546,540 RGD:7240710
RGD:8554872
Werner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:10402544
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:12791031
G Purg purine-rich element binding protein G JBrowse link 16 62,427,933 62,483,295 RGD:8554872
G Wrn Werner syndrome RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:1580825
RGD:8554872
RGD:11554173
RGD:7240710
X-linked severe combined immunodeficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il2rg interleukin 2 receptor subunit gamma JBrowse link X 71,165,378 71,169,078 RGD:8554872
RGD:7240710
xeroderma pigmentosum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb1 damage-specific DNA binding protein 1 JBrowse link 1 226,657,561 226,683,356 RGD:7246919
G Ddb2 damage specific DNA binding protein 2 JBrowse link 3 80,030,437 80,052,984 RGD:1601050
RGD:8554872
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601068
RGD:8554872
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:1598912
RGD:8554872
RGD:7246919
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:1601093
RGD:8554872
RGD:7246919
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:7246919
RGD:8554872
G Gtpbp2 GTP binding protein 2 JBrowse link 9 17,198,957 17,208,456 RGD:8554872
G Klc3 kinesin light chain 3 JBrowse link 1 80,306,074 80,315,886 RGD:8554872
G Polh DNA polymerase eta JBrowse link 9 17,163,354 17,198,006 RGD:11554173
RGD:8554872
G Terf2 telomeric repeat binding factor 2 JBrowse link 19 39,271,992 39,301,506 RGD:13592920
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:1331525
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 RGD:1331525
RGD:8554872
RGD:11554173
RGD:7246919
RGD:1599876
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:1599878
RGD:8554872
RGD:11554173
RGD:7246919
xeroderma pigmentosum group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xpa XPA, DNA damage recognition and repair factor JBrowse link 5 61,749,767 61,793,641 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
xeroderma pigmentosum group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 18 25,037,668 25,068,380 RGD:7240710
RGD:8554872
xeroderma pigmentosum group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:7240710
RGD:8554872
xeroderma pigmentosum group D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:7240710
RGD:8554872
xeroderma pigmentosum group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddb2 damage specific DNA binding protein 2 JBrowse link 3 80,030,437 80,052,984 RGD:7240710
RGD:8554872
RGD:11554173
xeroderma pigmentosum group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872
xeroderma pigmentosum group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc5 ERCC excision repair 5, endonuclease JBrowse link 9 50,928,847 50,970,962 RGD:7240710
RGD:8554872
xeroderma pigmentosum variant type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polh DNA polymerase eta JBrowse link 9 17,163,354 17,198,006 RGD:7240710
RGD:8554872
XFE progeroid syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:13592920
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    Nutritional and Metabolic Diseases 4263
      disease of metabolism 4263
        DNA Repair-Deficiency Disorders 179
          Bloom syndrome 4
          Cockayne syndrome + 11
          Fanconi anemia + 43
          LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME 2
          Li-Fraumeni syndrome + 3
          Lynch syndrome + 27
          N syndrome 0
          Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect 1
          Nijmegen Breakage Syndrome-Like Disorder 1
          Nijmegen breakage syndrome + 4
          Rothmund-Thomson syndrome + 1
          Werner syndrome + 4
          ataxia telangiectasia + 22
          severe combined immunodeficiency + 53
          xeroderma pigmentosum + 18
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.