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encyclopedia of Rare Disease Annotation for Precision Medicine

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Disease	candidiasis
Comorbidity	C0272236\|hyper-igm syndrome
Sentences	1
PubMedID- 20639550	An overview on such disease variation databases can be found in table 2.table 2.disease variation databases: a list of available disease variation databases including web linksdatabaseurlgene(s)diseasesremarkadabasehttp://bioinf.uta.fi/adabaseadaadenosine deaminase deficiencyaicdabasehttp://bioinf.uta.fi/aicdabaseaicdanon-x-linked hyper-igm syndromeairebasehttp://bioinf.uta.fi/airebaseaireautoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (apeced)albinism database (chs)http://albinismdb.med.umn.edu/chs1mut.htmllystchediak–higashi syndromealbinism database (hps2)http://albinismdb.med.umn.edu/hps2mut.htmap3b1hermansky–pudlak syndrome 2alpsbase (ii)http://research.nhgri.nih.gov/alps/alpsii_mut.shtmlcasp10autoimmune lymphoproliferative syndrome, type iialpsbase (ia)http://research.nhgri.nih.gov/alps/alpsia_mut.shtmlfasautoimmune lymphoproliferative syndrome, type iaap3b1basehttp://bioinf.uta.fi/ap3b1baseap3b1hermansky–pudlak syndrome 2birc4basehttp://bioinf.uta.fi/birc4basebirc4x-linked lymphoproliferative syndromeblmbasehttp://bioinf.uta.fi/blmbaseblmbloom syndromeblnkbasehttp://bioinf.uta.fi/blnkbaseblnkblnk deficiencybtkbasehttp://bioinf.uta.fi/btkbasebtkx-linked agammaglobulinemia (xla)c1qabasehttp://bioinf.uta.fi/c1qabasec1qac1q α polypeptide deficiencyc1qbbasehttp://bioinf.uta.fi/c1qbbasec1qbc1q β polypeptide deficiencyc1qcbasehttp://bioinf.uta.fi/c1qcbasec1qcc1q γ-polypeptide deficiencyc1sbasehttp://bioinf.uta.fi/c1sbasec1 sc1 s deficiencyc2basehttp://bioinf.uta.fi/c2basec2c2 deficiencyc3basehttp://bioinf.uta.fi/c3basec3c3 deficiencyc5basehttp://bioinf.uta.fi/c5basec5c5 deficiencyc6basehttp://bioinf.uta.fi/c6basec6c6 deficiencyc7basehttp://bioinf.uta.fi/c7basec7c7 deficiencyc8bbasehttp://bioinf.uta.fi/c8bbasec8bc8b deficiencyc9basehttp://bioinf.uta.fi/c9basec9c9 deficiencyca2basehttp://bioinf.uta.fi/ca2baseca2osteopetrosis with renal tubular acidosiscasp10basehttp://bioinf.uta.fi/casp10basecasp10autoimmune lymphoproliferative syndrome, type iicasp8basehttp://bioinf.uta.fi/casp8basecasp8caspase 8 deficiencycatalogue of somatic mutations in cancer (cosmic)http://www.sanger.ac.uk/genetics/cgp/cosmic/>13 500multiple tissues and histologiescd19basehttp://bioinf.uta.fi/cd19basecd19cd19 deficiencycd247basehttp://bioinf.uta.fi/cd247basecd247cd3ζ deficiencycd3dbasehttp://bioinf.uta.fi/cd3dbasecd3dcd3δ deficiencycd3ebasehttp://bioinf.uta.fi/cd3ebasecd3 ecd3ε deficiencycd3gbasehttp://bioinf.uta.fi/cd3gbasecd3 gcd3γ deficiencycd40basehttp://bioinf.uta.fi/cd40basecd40cd40 deficiencycd40lbasehttp://bioinf.uta.fi/cd40lbasecd40 lx-linked hyper-igm syndrome (xhim)cd55basehttp://bioinf.uta.fi/cd55basecd55decay-accelerating factor (cd55) deficiencycd59basehttp://bioinf.uta.fi/cd59basecd59cd59 deficiencycd79abasehttp://bioinf.uta.fi/cd79abasecd79 aigα deficiencycd79bbasehttp://bioinf.uta.fi/cd79bbasecd79bigβ deficiencycd8abasehttp://bioinf.uta.fi/cd8abasecd8 acd8α deficiencycebpebasehttp://bioinf.uta.fi/cebpebasecebpeneutrophil-specific granule deficiencycfdbasehttp://bioinf.uta.fi/cfdbasecfdfactor d deficiencycfhbasehttp://bioinf.uta.fi/cfhbasecfhfactor h deficiencycfibasehttp://bioinf.uta.fi/cfibasecficomplement factor i deficiencycfpbasehttp://bioinf.uta.fi/cfpbasecfpproperdin deficiencyciitabasehttp://bioinf.uta.fi/ciitabaseciitamhcii transactivating protein deficiencyclcn7basehttp://bioinf.uta.fi/clcn7baseclcn7autosomal dominant osteopetrosis, type 2ctscbasehttp://bioinf.uta.fi/ctscbasectscpapillon-lefevre syndromecxcr4basehttp://bioinf.uta.fi/cxcr4basecxcr4whim syndromecybabasehttp://bioinf.uta.fi/cybabasecybaautosomal recessive p22phox deficiencycybbbasehttp://bioinf.uta.fi/cybbbasecybbx-linked chronic granulomatous disease (xcgd)dclre1cbasehttp://bioinf.uta.fi/dclre1cbasedclre1 cartemis deficiencydkc1basehttp://bioinf.uta.fi/dkc1basedkc1hoyeraal-hreidarsson syndromednmt3bbasehttp://bioinf.uta.fi/dnmt3bbasednmt3bicf syndromeela2basehttp://bioinf.uta.fi/ela2baseela2cyclic neutropenia; congenital neutropeniaf12basehttp://bioinf.uta.fi/f12basef12hereditary angioedema type iiifanconi anemia mutation databasehttp://www.rockefeller.edu/fanconi/mutate/jumpa.htmlfanca, fancb, fancc, fancd2, fance, fancf, fancg, fanclfanconi anemiafaslgbasehttp://bioinf.uta.fi/faslgbasefaslgautoimmune lymphoproliferative syndrome, type 1b (alps1b)fcgr1abasehttp://bioinf.uta.fi/fcgr1abasefcgr1 acd64 deficiencyfcgr3abasehttp://bioinf.uta.fi/fcgr3abasefcgr3 anatural killer cell deficiencyfh ahus mutation databasehttp://www.fh-hus.org/cfhhemolytic uraemic syndrome (hus)foxn1basehttp://bioinf.uta.fi/foxn1basefoxn1t-cell immunodeficiency, congenital alopecia, and nail dystrophyfoxp3basehttp://bioinf.uta.fi/foxp3basefoxp3immunodysregulation, polyendocrinopathy, and enteropathy, x-linked; ipexgfi1basehttp://bioinf.uta.fi/gfi1basegfi1severe congenital neutropenia (scn); nonimmune chronic idiopathic neutropenia of adults (ni-cina)haedbhttp://hae.enzim.hu/serping1hereditary angioedemahax1basehttp://bioinf.uta.fi/hax1basehax1severe congenital neutropenia (kostmann disease)icosbasehttp://bioinf.uta.fi/icosbaseicosicos deficiencyifngr1basehttp://bioinf.uta.fi/ifngr1baseifngr1ifnγ1-receptor deficiencyifngr2basehttp://bioinf.uta.fi/ifngr2baseifngr2ifnγ2-receptor deficiencyighg2basehttp://bioinf.uta.fi/ighg2baseighg2igg2 deficiencyighmbasehttp://bioinf.uta.fi/ighmbaseighmμ heavy chain deficiencyigll1basehttp://bioinf.uta.fi/igll1baseigll1λ5surrogate light-chain deficiencyikbkgbasehttp://bioinf.uta.fi/ikbkgbaseikbkgnemo deficiencyil12bbasehttp://bioinf.uta.fi/il12bbaseil12binterleukin-12 (il12) p40 deficiencyil12rb1basehttp://bioinf.uta.fi/il12rb1baseil12rb1interleukin-12 receptor β1 deficiencyil2rabasehttp://bioinf.uta.fi/il2rabaseil2rainterleukin-2 receptor α deficiencyil2rgbasehttp://research.nhgri.nih.gov/scid/il2rgx-linked scidil7rbasehttp://bioinf.uta.fi/il7rbaseil7 rinterleukin-7 receptor α deficiencyinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/lpin2majeed syndromeinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/mefvfamilial mediterranean feverinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/mvkhyper igd syndrome and periodic feverinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/nlrp3familial cold autoinflammatory syndrome, muckle-wells syndrome and chronic infantile neurological cutaneous and articular syndromeinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/nlrp7recurrent hydatidiform moles and reproductive wastageinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/nod2blau syndrome, chrohn's disease, early onset sarcoidosisinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/pstpip1pyogenic sterile arthritis, pyoderma gangrenosum and acne syndromeinfevershttp://fmf.igh.cnrs.fr/issaid/infevers/tnfrsf1 atumor necrosis factor receptor-associated periodic syndromeirak4basehttp://bioinf.uta.fi/irak4baseirak4irak4 deficiencyitgb2basehttp://bioinf.uta.fi/itgb2baseitgb2leukocyte adhesion deficiency i (lad-i)jak3basehttp://bioinf.uta.fi/jak3basejak3jak3 deficiencylig1basehttp://bioinf.uta.fi/lig1baselig1dna ligase i deficiencylig4basehttp://bioinf.uta.fi/lig4baselig4lig4 syndromelrrc8abasehttp://bioinf.uta.fi/lrrc8abaselrrc8 anon-bruton type autosomal dominant agammaglobulinemialystbasehttp://bioinf.uta.fi/lystbaselystchediak–higashi syndromemapbpipbasehttp://bioinf.uta.fi/mapbpipbasemapbpipendosomal adaptor protein p14 deficiencymasp2basehttp://bioinf.uta.fi/masp2basemasp2masp2 deficiencymlphbasehttp://bioinf.uta.fi/mlphbasemlphgriscelli syndrome, type 3 (gs3)mpobasehttp://bioinf.uta.fi/mpobasempomyeloperoxidase deficiencymre11abasehttp://bioinf.uta.fi/mre11abasemre11 aataxia-telangiectasia-like disorder (atld)mutation database - papillon lefevre syndromehttp://www.genetics.pitt.edu/mutation/pls/ctscpapillon lefevre syndromemyo5abasehttp://bioinf.uta.fi/myo5abasemyo5 agriscelli syndrome, type 1 (gs1)ncf1basehttp://bioinf.uta.fi/ncf1basencf1autosomal recessive p47phox deficiencyncf2basehttp://bioinf.uta.fi/ncf2basencf2autosomal recessive p67phox deficiencynfkbiabasehttp://bioinf.uta.fi/nfkbiabasenfkbiaautosomal dominant anhidrotic ectodermal dysplasia and t-cell immunodeficiencynhej1basehttp://bioinf.uta.fi/nhej1basenhej1combined immunodeficiency (cid) associated with microcephaly and increased cellular sensitivity to irnpbasehttp://bioinf.uta.fi/npbasenppnp deficiencynrasbasehttp://bioinf.uta.fi/nrasbasenrasautoimmune lymphoproliferative syndrome type ivorai1basehttp://bioinf.uta.fi/orai1baseorai1severe combined immunodeficiencyostm1basehttp://bioinf.uta.fi/ostm1baseostm1autosomal recessive osteopetrosispik3r1basehttp://bioinf.uta.fi/pik3r1basepik3r1pathogenic mutations in the p85α sh2 domainprf1basehttp://bioinf.uta.fi/prf1baseprf1familial haemophagocytic lymphohistiocytosis, type ii (fhl2)ptpn11basehttp://bioinf.uta.fi/ptpn11baseptpn11pathogenic mutations in the shp-2 sh2 domainptprcbasehttp://bioinf.uta.fi/ptprcbaseptprccd45 deficiencyrab27abasehttp://bioinf.uta.fi/rab27abaserab27 agriscelli syndrome, type 2 (gs2)rac2basehttp://bioinf.uta.fi/rac2baserac2neutrophil immunodeficiency syndromerag1basehttp://bioinf.uta.fi/rag1baserag1rag1 deficiencyrag2basehttp://bioinf.uta.fi/rag2baserag2rag2 deficiencyrasa1basehttp://bioinf.uta.fi/rasa1baserasa1pathogenic mutations in the rasgap sh2 domainrasgrp2basehttp://bioinf.uta.fi/rasgrp2baserasgrp2leukocyte adhesion deficiency iiirfx5basehttp://bioinf.uta.fi/rfx5baserfx5mhcii promoter x box regulatory factor 5 deficiencyrfxankbasehttp://bioinf.uta.fi/rfxankbaserfxankankyrin repeat containing regulatory factor x-associated protein deficiencyrfxapbasehttp://bioinf.uta.fi/rfxapbaserfxapregulatory factor x-associated protein deficiencyroche cancer genome database (rcgdb)http://rcgdb.bioinf.uni-sb.de/mutomeweb>10 000multiple tissues and histologiessbdsbasehttp://bioinf.uta.fi/sbdsbasesbdsshwachman–diamond syndromeserping1basehttp://bioinf.uta.fi/serping1baseserping1hereditary angioedemash2basehttp://bioinf.uta.fi/sh2basesh2pathogenic sh2 domain mutationssh2d1abasehttp://bioinf.uta.fi/sh2d1abasesh2d1 ax-linked lymphoproliferative syndrome (xlp)slc35c1basehttp://bioinf.uta.fi/slc35c1baseslc35c1leukocyte adhesion deficiency i i (lad-ii)smarcal1basehttp://bioinf.uta.fi/smarcal1basesmarcal1schimke immuno-osseous dysplasiasp110basehttp://bioinf.uta.fi/sp110basesp110hepatic veno-occlusive disease with immunodeficiency syndrome (vodi)spink5basehttp://bioinf.uta.fi/spink5basespink5netherton syndromestat1basehttp://bioinf.uta.fi/stat1basestat1stat1 deficiencystat3basehttp://bioinf.uta.fi/stat3basestat3hyper-ige syndromestat5bbasehttp://bioinf.uta.fi/stat5bbasestat5bgrowth hormone insensitivity with immunodeficiencystx11basehttp://bioinf.uta.fi/stx11basestx11familial haemophagocytic lymphohistiocytosis 4tap1basehttp://bioinf.uta.fi/tap1basetap1tap1 deficiencytap2basehttp://bioinf.uta.fi/tap2basetap2tap2 deficiencytapbpbasehttp://bioinf.uta.fi/tapbpbasetapbptapasin deficiencytazbasehttp://bioinf.uta.fi/tazbasetazbarth syndrometcirg1basehttp://bioinf.uta.fi/tcirg1basetcirg1autosomal recessive osteopetrosis (arop)tcn2basehttp://bioinf.uta.fi/tcn2basetcn2transcobalamin ii deficiencythe cancer genome atlas (tcga)http://cancergenome.nih.gov/>400brain (glioblastoma multiforme), ovarian (serous cystadenocarcinoma)login for tcga data portal necessary, more disease to cometlr3basehttp://bioinf.uta.fi/tlr3basetlr3influenza-associated encephalopathytmc6basehttp://bioinf.uta.fi/tmc6basetmc6epidermodysplasia verruciformistmc8basehttp://bioinf.uta.fi/tmc8basetmc8epidermodysplasia verruciformistnfrsf13bbasehttp://bioinf.uta.fi/tnfrsf13bbasetnfrsf13btaci deficiencytyk2basehttp://bioinf.uta.fi/tyk2basetyk2tyk2 deficiencyumd-atp7bhttp://www.umd.be/atp7b/atpase, cu++ transporting, beta polypetidewilson diseaseumd-col3a1http://www.umd.be/col3a1/col3a1col3a1 deficiencyrestricted accessumd-csahttp://www.umd.be/csa/ercc8ercc8 deficiencyumd-csbhttp://www.umd.be/csb/ercc6ercc6 deficiencyumd-dfnb1-gjb2http://www.umd.be/dfnb1-gjb2/dfnb1, gjb2dfnb1 deficiencyrestricted accessumd-dmdhttp://www.umd.be/dmd/dmddmd deficiencyumd-dpydhttp://www.umd.be/dpyd/dpyddihydropyrimidine dehydrogenase diseaserestricted accessumd-emdhttp://www.umd.be/emd/emdemd deficiencyumd-fbn1http://www.umd.be/fbn1/fbn1marfan syndrome and related disordersumd-fbn2http://194.167.35.168/fbn2/fbn2congenital contractural arachnodactylyumd-ldlrhttp://www.umd.be/ldlr/ldlrfamilial hypercholesterolemia (fh)umd-lmnahttp://www.umd.be/lmna/lmnalmna deficiencyumd-tgfbr1http://www.umd.be/lsdb.htmltgfbr1tgfbr1 deficiencyrestricted accessumd-tgfbr2http://www.umd.be/tgfbr2/tgfbr2marfan syndrome, loeys–dietz syndome, familial thoracic aortic anezrysms and dissectionsumd-ushbaseshttp://www.umd.be/usher.htmlusher syndromeunc13dbasehttp://bioinf.uta.fi/unc13dbaseunc13dfamilial hemophagocytic lymphohistiocytosis 3unc93b1basehttp://bioinf.uta.fi/unc93b1baseunc93b1unc93b deficiency (herpes simplex encephalitis)ungbasehttp://bioinf.uta.fi/ungbaseungung deficiencywasbasehttp://bioinf.uta.fi/wasbasewaswiskott–aldrich syndrome (was)waspbasehttp://homepage.mac.com/kohsukeimai/wasp/waspbase.htmlwaspwiskott–aldrich syndromezap70basehttp://bioinf.uta.fi/zap70basezap70zap70 deficiencyfor each database the disease as well as the genes have been covered.

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