ADAbase | Adenosine deaminase deficiency (ADA) | Mauno Vihinen and Michael Hershfield | FF10 | | | 608958 | ADA | ADA | ADA | 654536 | ADA | ENSG00000196839 | 6206 | P00813 | 100 | 100 | 0001 | | chr20:42681577-42713790&hgsid=99561479&knownGene=pack&hgFind.matches=uc002xmj.1, | |
AICDAbase | Non-X-linked hyper-IgM syndrome | Mauno Vihinen and Anne Durandy | FF17 | | | 605257 | AICDA | AICDA | AICDA | 149342 | AICDA | ENSG00000111732 | 19814 | Q9GZX7 | 57379 | 57379 | 0002 | | chr12:8646029-8656706&hgsid=99561543&knownGene=pack&hgFind.matches=uc001qur.1, | |
AIREbase | Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) | Mauno Vihinen | FF72 | | | 607358 | AIRE | AIRE | AIRE | 129829 | AIRE | ENSG00000160224 | 4239 | O43918 | 326 | 326 | 0003 | | chr21:44530191-44542530&hgsid=99560898&knownGene=pack&hgFind.matches=uc002zei.1, | |
AK2base | reticular dysgenesis | Mauno Vihinen | | | | 103020 | AK2 | | AK2 | 470907 | AK2 | ENSG00000004455 | | P54819 | 204 | 0000204 | | | chr1:33246172-33319184 | |
AP3B1base | Hermansky-Pudlak syndrome 2 | Mauno Vihinen | FF108 | | | 603401 | AP3B1 | AP3B1 | AP3B1 | 532091 | AP3B1 | ENSG00000132842 | 4056 | O00203 | 8546 | 8546 | 0103 | | chr5:77333906-77626284&hgsid=99561596&knownGene=pack&hgFind.matches=uc003kfj.1, | |
BIRC4base | X-linked lymphoproliferative syndrome | Mauno Vihinen | FF165 | | | 300079 | BIRC4 | BIRC4 | BIRC4 | 356076 | BIRC4 | ENSG00000101966 | 6881 | P98170 | 331 | 331 | 0120 | | chrX:122821729-122875503&hgsid=99561620&knownGene=pack&hgFind.matches=uc004etx.1, | |
BLMbase | Bloom syndrome | Mauno Vihinen | FF89 | | | 604610 | BLM | BLM | BLM | 169348 | BLM | ENSG00000197299 | 4856 | P54132 | 641 | 641 | 0004 | | chr15:89061583-89159690&hgsid=99561661&knownGene=pack&hgFind.matches=uc002bpr.1, | |
BLNKbase | BLNK deficiency | Mauno Vihinen | FF24 | | | 604515 | BLNK | BLNK | BLNK | 444049 | BLNK | ENSG00000095585 | 8986 | Q8WV28 | 29760 | 29760 | 0005 | | chr10:97941445-98021316&hgsid=99563235&knownGene=pack&hgFind.matches=uc001kma.1, | |
BTKbase | X-linked agammaglobulinemia (XLA) | Mauno Vihinen and C.I. Edvard Smith | FF22 | | | 300300 | BTK | BTK | BTK | 159494 | BTK | ENSG00000010671 | 2742 | Q06187 | 695 | 695 | 0006 | | chrX:100495514-100500081&hgsid=99633596&knownGene=pack&hgFind.matches=uc004ehh.1, | |
C1QAbase | C1q α polypeptide deficiency | Mauno Vihinen | FF48 | | | 120550 | C1QA | C1QA | C1QA | 632379 | C1QA | ENSG00000173372 | 12334 | | 712 | 712 | 0007 | NP_057075 | chr1:22835705-22838762&hgsid=99633616&knownGene=pack&hgFind.matches=uc001bfy.1, | |
C1QBbase | C1q β polypeptide deficiency | Mauno Vihinen | FF49 | | | 120570 | C1QB | C1QB | C1QB | 8986 | C1QB | ENSG00000173369 | 5035 | P02746 | 713 | 713 | 0111 | | chr1:22852269-22860616&hgsid=99633641&knownGene=pack&hgFind.matches=uc001bgd.1, | |
C1QCbase | C1q γ-polypeptide deficiency | Mauno Vihinen | FF50 | | (previously known as C1QGbase) | 120575 | C1QC | C1QC | C1QC | 467753 | C1QC | ENSG00000159189 | 24061 | P02747 | 714 | 714 | 0008 | | chr1:22842734-22847190&hgsid=99563522&knownGene=pack&hgFind.matches=uc001bgc.1, | |
C1Sbase | C1s deficiency | Mauno Vihinen | FF52 | | | 120580 | C1S | C1S | C1S | 458355 | C1S | ENSG00000182326 | 1761 | | 716 | 716 | 0009 | NP_001725.1 | chr12:7038278-7048596&hgsid=99563546&knownGene=pack&hgFind.matches=uc001qsl.1, | |
C2base | C2 deficiency | Mauno Vihinen | FF90 | | | 217000 | C2 | C2 | C2 | 408903 | C2 | ENSG00000204364 | 200001 | | 717 | 717 | 0094 | NP_000054.1 | chr6_qbl_hap2:3143234-3161189&hgsid=99563685&knownGene=pack&hgFind.matches=uc003scp.1, | |
C3base | C3 deficiency | Mauno Vihinen | FF61 | | | 120700 | C3 | C3 | C3 | 529053 | C3 | ENSG00000125730 | 22686 | | 718 | 718 | 0106 | NP_000055.1 | chr19:6628846-6671662&hgsid=99565100&knownGene=pack&hgFind.matches=uc002mfm.1, | |
C5base | C5 deficiency | Mauno Vihinen | FF91 | | | 120900 | C5 | C5 | C5 | 494997 | C5 | ENSG00000106804 | 4562 | | 727 | 727 | 0107 | NP_001726.1 | chr9:122754435-122852375&hgsid=99565135&knownGene=pack&hgFind.matches=uc004bkv.1, | |
C6base | C6 deficiency | Mauno Vihinen | FF10 | | | 217050 | C6 | C6 | C6 | 481992 | C6 | ENSG00000039537 | 6276 | | 729 | 729 | 0108 | NP_000056.1 | chr5:41178093-41297297&hgsid=99565170&knownGene=pack&hgFind.matches=uc003jml.1, | |
C7base | C7 deficiency | Mauno Vihinen | FF93 | | | 217070 | C7 | C7 | C7 | 78065 | C7 | ENSG00000112936 | 4413 | | 730 | 730 | 0109 | NP_000578.1 | chr5:40945356-41018798&hgsid=99565194&knownGene=pack&hgFind.matches=uc003jmh.1, | |
C8Bbase | C8B deficiency | Mauno Vihinen | FF56 | | | 120960 | C8B | C8B | C8B | 391835 | C8B | ENSG00000021852 | 7918 | P07358 | 732 | 732 | 0010 | | chr1:57167471-57204276&hgsid=99565221&knownGene=pack&hgFind.matches=uc001cyp.1, | |
C9base | C9 deficiency | Mauno Vihinen | FF94 | | | 120940 | C9 | C9 | C9 | 654443 | C9 | ENSG00000113600 | 3958 | | 735 | 735 | 0110 | NP_001728.1 | chr5:39320761-39400412&hgsid=99565236&knownGene=pack&hgFind.matches=uc003jlv.1, | |
CARD9base | Caspase recruitment domain family, member 9 | Mauno Vihinen | | | | 607212 | CARD9 | CARD9 | CARD9 | 694071 | CARD9 | ENSG00000187796 | | Q9H257 | 64170 | 0064170 | | | chr9:138376176-138387954 | |
CASP10base | Autoimmune lymphoproliferative syndrome, type II | Mauno Vihinen | FF109 | | | 601762 | CASP10 | CASP10 | CASP10 | 5353 | CASP10 | ENSG00000003400 | 472 | Q92851 | 843 | 843 | 0012 | | chr2:201755866-201802355&hgsid=99565255&knownGene=pack&hgFind.matches=uc002uxm.1, | |
CASP8base | Caspase 8 deficiency | Mauno Vihinen | FF110 | | | 601763 | CASP8 | CASP8 | CASP8 | 655983 | CASP8 | ENSG00000064012 | 7917 | Q14790 | 841 | 841 | 0013 | | chr2:201839455-201860060&hgsid=99565274&knownGene=pack&hgFind.matches=uc002uxy.1, | |
CD19base | CD19 deficiency | Mauno Vihinen | FF150 | | | 107265 | CD19 | CD19 | CD19 | 652262 | CD19 | ENSG00000177455 | 2887 | P15391 | 930 | 930 | 0112 | | chr16:28850761-28858164&hgsid=99565348&knownGene=pack&hgFind.matches=uc002drs.1, | |
CD247base | CD3ζ deficiency | Mauno Vihinen | FF149 | | | 186780 | CD247 | CD247 | CD247 | 156445 | CD247 | ENSG00000198821 | 200003 | P20963 | 919 | 919 | 0115 | | chr1:165670932-165754450&hgsid=99565374&knownGene=pack&hgFind.matches=uc001gek.1, | |
CD3Dbase | CD3δ deficiency | Mauno Vihinen | FF111 | | | 186790 | CD3D | CD3D | CD3D | 504048 | CD3D | ENSG00000167286 | 200003 | P04234 | 915 | 915 | 0014 | | chr11:117714999-117718669&hgsid=99565406&knownGene=pack&hgFind.matches=uc001pst.1, | |
CD3Ebase | CD3ε deficiency | Mauno Vihinen and Jose R. Regueiro | FF20 | | | 186830 | CD3E | CD3E | CD3E | 3003 | CD3E | ENSG00000198851 | 200003 | P07766 | 916 | 916 | 0097 | | chr11:117680662-117692100&hgsid=99565423&knownGene=pack&hgFind.matches=uc001psq.1, | |
CD3Gbase | CD3γ deficiency | Mauno Vihinen and Jose R. Regueiro | FF21 | | | 186740 | CD3G | CD3G | CD3G | 2259 | CD3G | ENSG00000160654 | 200003 | P09693 | 917 | 917 | 0098 | | chr11:117720311-117729261&hgsid=99565512&knownGene=pack&hgFind.matches=uc001psu.1, | |
CD40base | CD40 deficiency | Mauno Vihinen | FF18 | | (previously known as TNFRSF5base) | 109535 | CD40 | CD40 | CD40 | 472860 | CD40 | ENSG00000101017 | 7613 | P25942 | 958 | 958 | 0089 | | chr20:44190168-44191791&hgsid=99565650&knownGene=pack&hgFind.matches=uc002xrl.1, | |
CD40Lbase | X-linked Hyper-IgM syndrome (XHIM) | Mauno Vihinen and Luigi D. Notarangelo | FF16 | | | 300386 | CD40L | CD40L | CD40L | 592244 | CD40L | ENSG00000102245 | 1308 | P29965 | 959 | 959 | 0015 | | chrX:135558002-135570215&hgsid=99565746&knownGene=pack&hgFind.matches=uc004faa.1, | |
CD55base | Decay-accelerating factor (CD55) deficiency | Mauno Vihinen | FF102 | | (previously known as DAFbase) | 125240 | CD55 | CD55 | CD55 | 527653 | CD55 | ENSG00000196352 | 5431 | P08174 | 1604 | 1604 | 0104 | | chr1:205561488-205600470&hgsid=99565774&knownGene=pack&hgFind.matches=uc001hft.1, | |
CD59base | CD59 deficiency | Mauno Vihinen | FF103 | | | 107271 | CD59 | CD59 | CD59 | 278573 | CD59 | ENSG00000085063 | 2569 | P13987 | 966 | 966 | 0016 | | chr11:33,588,271-33,788,444 | |
CD79Abase | Igα deficiency | Mauno Vihinen | FF25 | | | 112205 | CD79A | CD79A | CD79A | 631567 | CD79A | ENSG00000105369 | 4502 | P11912 | 973 | 973 | 0017 | | chr19:47073030-47077279&hgsid=99565851&knownGene=pack&hgFind.matches=uc002orv.1, | |
CD79Bbase | Igβ deficiency | Mauno Vihinen | FF159 | | | 147245 | CD79B | CD79B | CD79B | 89575 | CD79B | ENSG00000007312 | 200002 | P40259 | 974 | 974 | 0126 | | chr17:59359830-59363436&hgsid=99565889&knownGene=pack&hgFind.matches=uc002jdr.1, | |
CD8Abase | CD8α deficiency | Mauno Vihinen | FF64 | | | 186910 | CD8A | CD8A | CD8A | 85258 | CD8A | ENSG00000153563 | 6120 | P01732 | 925 | 925 | 0018 | | chr2:86865239-86871729&hgsid=99565917&knownGene=pack&hgFind.matches=uc002srt.1, | |
CEBPEbase | Neutrophil-specific granule deficiency | Mauno Vihinen | FF112 | | | 600749 | CEBPE | CEBPE | CEBPE | 558308 | CEBPE | ENSG00000092067 | 1263 | Q15744 | 1053 | 1053 | 0019 | | chr14:22656355-22658314&hgsid=99565967&knownGene=pack&hgFind.matches=uc001wiv.1, | |
CFDbase | Factor D deficiency | Mauno Vihinen | FF98 | | (previously known as DFbase) | 134350 | CFD | CFD | CFD | 155597 | CFD | ENSG00000197766 | 8501 | P00746 | 1675 | 1675 | 0027 | | chr19:810665-814610&hgsid=99565995&knownGene=pack&hgFind.matches=uc002lqc.1, | |
CFHbase | Factor H deficiency | Mauno Vihinen | FF101 | | (previously known as HF1base) | 134370 | CFH | CFH | CFH | 363396 | CFH | ENSG00000000971 | 4073 | P08603 | 3075 | 3075 | 0038 | | chr1:194887764-194983257&hgsid=99566046&knownGene=pack&hgFind.matches=uc001gtj.1, | |
CFIbase | Complement factor I deficiency | Mauno Vihinen | FF99 | | (previously known as IFbase) | 217030 | CFI | CFI | CFI | 312485 | CFI | ENSG00000205403 | 6506 | P05156 | 3426 | 3426 | 0040 | | chr4:110881297-110942783&hgsid=99566119&knownGene=pack&hgFind.matches=uc003hzs.1, | |
CFPbase | Properdin deficiency | Mauno Vihinen | FF100 | | (previously known as PFCbase) | 300383 | CFP | CFP | PFC | 53155 | PFC | ENSG00000126759 | 1051 | P27918 | 5199 | 5199 | 0066 | | chrX:47368570-47374648&hgsid=99566138&knownGene=pack&hgFind.matches=uc004dih.1, | |
CIITAbase | MHCII transactivating protein deficiency | Mauno Vihinen | FF12 | | (previously known as MHC2TAbase) | 600005 | CIITA | CIITA | CIITA | 126714 | CIITA | ENSG00000179583 | 200001 | P33076 | 4261 | 4261 | 0058 | | chr16:10878558-10926341&hgsid=99566356&knownGene=pack&hgFind.matches=uc002dak.1, | |
CTSCbase | Papillon-Lefevre syndrome | Mauno Vihinen | FF154 | | | 602365 | CTSC | CTSC | CTSC | 128065 | CTSC | ENSG00000109861 | 2086 | P53634 | 1075 | 1075 | 0022 | | chr11:87666408-87710586&hgsid=99635316&knownGene=pack&hgFind.matches=uc001pcl.1, | |
CXCR4base | WHIM syndrome | Mauno Vihinen | FF7 | | | 162643 | CXCR4 | CXCR4 | CXCR4 | 593413 | CXCR4 | ENSG00000121966 | 8271 | P61073 | 7852 | 7852 | 0023 | | chr2:136588389-136592195&hgsid=99566470&knownGene=pack&hgFind.matches=uc002tuz.1, | |
CYBAbase | Autosomal recessive p22phox deficiency | Mauno Vihinen and Dirk Roos | FF39 | | | 608508 | CYBA | CYBA | CYBA | 513803 | CYBA | ENSG00000051523 | 2312 | P13498 | 1535 | 1535 | 0024 | | chr16:87237198-87244958&hgsid=99566511&knownGene=pack&hgFind.matches=uc002flb.1, | |
CYBBbase | X-linked chronic granulomatous disease (XCGD) | Mauno Vihinen and Dirk Roos | FF38 | | (previously known as X-CGDbase) | 300481 | CYBB | CYBB | CYBB | 292356 | CYBB | ENSG00000165168 | 1745 | | 1536 | 1536 | 0025 | NP_000388.2 | chrX:37524264-37557658&hgsid=99566621&knownGene=pack&hgFind.matches=uc004ddr.1, | |
DCLRE1Cbase | Artemis deficiency | Mauno Vihinen | FF5 | | | 605988 | DCLRE1C | DCLRE1C | DCLRE1C | 656065 | DCLRE1C | ENSG00000152457 | 20109 | Q96SD1 | 64421 | 64421 | 0026 | | chr10:14988877-15036100&hgsid=99566681&knownGene=pack&hgFind.matches=uc001inr.1, | |
DKC1base | Hoyeraal-Hreidarsson syndrome | Mauno Vihinen | FF113 | | | 300126 | DKC1 | DKC1 | DKC1 | 4747 | DKC1 | ENSG00000130826 | 7629 | O60832 | 1736 | 1736 | 0028 | | chrX:153644344-153659154&hgsid=99566782&knownGene=pack&hgFind.matches=uc004fmm.1, | |
DNMT3Bbase | ICF syndrome | Mauno Vihinen | FF124 | | | 602900 | DNMT3B | DNMT3B | DNMT3B | 655708 | DNMT3B | ENSG00000088305 | 9761 | Q9UBC3 | 1789 | 1789 | 0096 | | chr20:30813852-30860823&hgsid=99635581&knownGene=pack&hgFind.matches=uc002wyc.1, | |
ELA2base | Cyclic neutropenia; Congenital neutropenia | Mauno Vihinen | FF86 | | | 130130 | ELA2 | ELA2 | ELA2 | 99863 | ELA2 | ENSG00000197561 | 2427 | P08246 | 1991 | 1991 | 0029 | | chr19:803291-807246&hgsid=99566855&knownGene=pack&hgFind.matches=uc002lqb.1, | |
FASLGbase | Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) | Mauno Vihinen | FF37 | | (previously known as TNFSF6base) | 134638 | FASLG | FASLG | FASLG | 2007 | FASLG | ENSG00000117560 | 5930 | P48023 | 356 | 356 | 0090 | | chr1:170894808-170902635&hgsid=99566928&knownGene=pack&hgFind.matches=uc001git.1, | |
FCGR1Abase | CD64 deficiency | Mauno Vihinen | FF132 | | | 146760 | FCGR1A | FCGR1A | FCGR1A | 77424 | FCGR1A | ENSG00000150337 | 200002 | P12314 | 2209 | 2209 | 0032 | | chr1:148020912-148030698&hgsid=99567014&knownGene=pack&hgFind.matches=uc001esp.1, | |
FCGR3Abase | Natural killer cell deficiency | Mauno Vihinen | FF135 | | | 146740 | FCGR3A | FCGR3A | FCGR3A | 372679 | FCGR3A | ENSG00000203747 | 200002 | P08637 | 2214 | 2214 | 0033 | | chr1:159778175-159787005&hgsid=99567034&knownGene=pack&hgFind.matches=uc001gat.1, | |
FERMT3base | leukocyte adhesion deficiency syndrome-III | Mauno Vihinen | | | | 607901 | FERMT3 | | FERMT3 | 180535 | FERMT3 | ENSG00000149781 | | Q86UX7 | 83706 | n/a | | | chr11:63730726-63747930 | |
FOXN1base | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | Mauno Vihinen and Claudio Pignata | FF128 | | (previously known as WHNbase) | 600838 | FOXN1 | FOXN1 | FOXN1 | 663679 | FOXN1 | ENSG00000109101 | 3163 | O15353 | 8456 | 8456 | 0034 | | chr17:23875086-23889302&hgsid=99567062&knownGene=pack&hgFind.matches=uc002hbj.1, | |
FOXP3base | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX | Mauno Vihinen | FF78 | | | 300292 | FOXP3 | FOXP3 | FOXP3 | 247700 | FOXP3 | ENSG00000049768 | 2243 | Q9BZS1 | 50943 | 50943 | 0035 | | chrX:48994354-49008232&hgsid=99567093&knownGene=pack&hgFind.matches=uc004dnf.1, | |
G6PC3base | severe congenital neutropenia | Mauno Vihinen | | | | 611045 | G6PC3 | | G6PC3 | 294005 | G6PC3 | ENSG00000141349 | | Q9BUM1 | 92579 | 0092579 | | | chr17:39503629-39509235 | |
GFI1base | Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA) | Mauno Vihinen | FF129 | | | 600871 | GFI1 | GFI1 | GFI1 | 73172 | GFI1 | ENSG00000162676 | 3557 | Q99684 | 2672 | 2672 | 0037 | | chr1:92712909-92725021&hgsid=99567138&knownGene=pack&hgFind.matches=uc001dow.1, | |
HAX1base | Severe congenital neutropenia (Kostmann disease) | Mauno Vihinen | FF85 | | | 605998 | HAX1 | HAX1 | HAX1 | 199625 | HAX1 | ENSG00000143575 | 3522 | O00165 | 10456 | 10456 | 0121 | | chr1:152511663-152514975&hgsid=99637225&knownGene=pack&hgFind.matches=uc001fes.1, | |
ICOSbase | ICOS deficiency | Mauno Vihinen | FF116 | | | 604558 | ICOS | ICOS | ICOS | 56247 | ICOS | ENSG00000163600 | 11155 | Q9Y6W8 | 29851 | 29851 | 0039 | | chr2:204509748-204534543&hgsid=99567262&knownGene=pack&hgFind.matches=uc002vam.1, | |
IFNGR1base | IFNγ1-receptor deficiency | Mauno Vihinen | FF44 | | | 107470 | IFNGR1 | IFNGR1 | IFNGR1 | 520414 | IFNGR1 | ENSG00000027697 | 6402 | P15260 | 3459 | 3459 | 0041 | | chr6:137560315-137582200&hgsid=99567301&knownGene=pack&hgFind.matches=uc003qho.1, | |
IFNGR2base | IFNγ2-receptor deficiency | Mauno Vihinen | FF45 | | | 147569 | IFNGR2 | IFNGR2 | IFNGR2 | 634632 | IFNGR2 | ENSG00000159128 | 6234 | P38484 | 3460 | 3460 | 0042 | | chr21:33697072-33731696&hgsid=99567413&knownGene=pack&hgFind.matches=uc002yrp.1, | |
IGHG2base | IgG2 deficiency | Mauno Vihinen | FF29 | | | 147110 | IGHG2 | IGHG2 | IGHG2 | | IGHG2 | ENSG00000211893 | 200002 | Q6N093 | 3501 | 3501 | 0043 | | AJ294731&hgsid=99638276 | |
IGHMbase | μ heavy chain deficiency | Mauno Vihinen | FF26 | | | 147020 | IGHM | IGHM | IGHM | | IGHM | ENSG00000211899 | 200002 | P01871 | 3507 | 3507 | 0044 | | chr14:105205503-105210208&hgsid=99567598&knownGene=pack&hgFind.matches=uc001ysb.1, | |
IGLL1base | λ5surrogate light-chain deficiency | Mauno Vihinen | FF27 | | | 146770 | IGLL1 | IGLL1 | IGLL1 | 348935 | IGLL1 | ENSG00000128322 | 24832 | P15814 | 3543 | 3543 | 0045 | | chr22:22245313-22252495&hgsid=99567637&knownGene=pack&hgFind.matches=uc002zxe.1, | |
IKBKGbase | Nemo deficiency | Mauno Vihinen | FF19 | | | 300248 | IKBKG | IKBKG | IKBKG | 43505 | IKBKG | ENSG00000073009 | 1482 | Q9Y6K9 | 8517 | 8517 | 0046 | | chrX:153429034-153446455&hgsid=99567667&knownGene=pack&hgFind.matches=uc004fmb.1, | |
IL12Bbase | Interleukin-12 (IL12) p40 deficiency | Mauno Vihinen | FF46 | | | 161561 | IL12B | IL12B | IL12B | 674 | IL12B | ENSG00000113302 | 8601 | P29460 | 3593 | 3593 | 0047 | | chr5:158674369-158690059&hgsid=99567758&knownGene=pack&hgFind.matches=uc003lxr.1, | |
IL12RB1base | Interleukin-12 receptor β1 deficiency | Mauno Vihinen | FF47 | | | 601604 | IL12RB1 | IL12RB1 | IL12RB1 | 567294 | IL12RB1 | ENSG00000096996 | 6304 | P42701 | 3594 | 3594 | 0048 | | chr19:18031371-18070626&hgsid=99567807&knownGene=pack&hgFind.matches=uc002nhx.1, | |
IL2RAbase | Interleukin-2 receptor α deficiency | Mauno Vihinen | FF63 | | | 147730 | IL2RA | IL2RA | IL2RA | 231367 | IL2RA | ENSG00000134460 | 1420 | P01589 | 3559 | 3559 | 0049 | | chr10:6093512-6144278&hgsid=99567837&knownGene=pack&hgFind.matches=uc001iiz.1, | |
IL7Rbase | Interleukin-7 receptor α deficiency | Mauno Vihinen | FF106 | | | 146661 | IL7R | IL7R | IL7R | 591742 | IL7R | ENSG00000168685 | 1922 | P16871 | 3575 | 3575 | 0050 | | chr5:35892748-35912680&hgsid=99567860&knownGene=pack&hgFind.matches=uc003jjs.1, | |
IRAK4base | IRAK4 deficiency | Mauno Vihinen | FF117 | | | 606883 | IRAK4 | IRAK4 | IRAK4 | 138499 | IRAK4 | ENSG00000198001 | 20577 | Q9NWZ3 | 51135 | 51135 | 0051 | | chr12:42439047-42468166&hgsid=99567882&knownGene=pack&hgFind.matches=uc001rnt.1, | |
ITGB2base | Leukocyte adhesion deficiency I (LAD-I) | Mauno Vihinen | FF42 | | | 600065 | ITGB2 | ITGB2 | ITGB2 | 375957 | ITGB2 | ENSG00000160255 | 2832 | P05107 | 3689 | 3689 | 0052 | | chr21:45130297-45155169&hgsid=99567988&knownGene=pack&hgFind.matches=uc002zgd.1, | |
JAK3base | Jak3 deficiency | Mauno Vihinen and Luigi D. Notarangelo | FF9 | | | 600173 | JAK3 | JAK3 | JAK3 | 515247 | JAK3 | ENSG00000105639 | 2264 | P52333 | 3718 | 3718 | 0095 | | chr19:17797961-17819800&hgsid=99568058&knownGene=pack&hgFind.matches=uc002nhn.1, | |
LIG1base | DNA ligase I deficiency | Mauno Vihinen | FF131 | | | 126391 | LIG1 | LIG1 | LIG1 | 1770 | LIG1 | ENSG00000105486 | 2539 | P18858 | 3978 | 3978 | 0053 | | chr19:53310515-53365372&hgsid=99568110&knownGene=pack&hgFind.matches=uc002pia.1, | |
LIG4base | LIG4 syndrome | Mauno Vihinen | FF118 | | | 601837 | LIG4 | LIG4 | LIG4 | 166091 | LIG4 | ENSG00000174405 | 3766 | P49917 | 3981 | 3981 | 0054 | | chr13:107657793-107668717&hgsid=99568291&knownGene=pack&hgFind.matches=uc001vqp.1, | |
LRRC8Abase | Non-Bruton type autosomal dominant agammaglobulinemia | Mauno Vihinen | FF151 | | | 608360 | LRRC8A | LRRC8A | LRRC8A | 643600 | LRRC8A | ENSG00000136802 | 10868 | Q8IWT6 | 56262 | 56262 | 0055 | | chr9:130684268-130720136&hgsid=99568362&knownGene=pack&hgFind.matches=uc004bwl.1, | |
LYSTbase | Chediak-Higashi syndrome | Mauno Vihinen | FF79 | | (previously known as CHS1base) | 606897 | LYST | LYST | LYST | 532411 | LYST | ENSG00000143669 | 5376 | Q99698 | 1130 | 1130 | 0020 | | chr1:233890969-234096843&hgsid=99568389&knownGene=pack&hgFind.matches=uc001hxj.1, | |
MAPBPIPbase | Endosomal adaptor protein p14 deficiency | Mauno Vihinen | FF161 | | | 610389 | MAPBPIP | MAPBPIP | MAPBPIP | 632483 | MAPBPIP | ENSG00000116586 | | Q9Y2Q5 | 28956 | 28956 | 0123 | | chr1:154291229-154294923&hgsid=99568461&knownGene=pack&hgFind.matches=uc001fnb.1, | |
MASP2base | MASP2 deficiency | Mauno Vihinen | FF119 | | | 605102 | MASP2 | MASP2 | MASP2 | 655645 | MASP2 | ENSG00000009724 | 2529 | O00187 | 10747 | 10747 | 0056 | | chr1:11027442-11029872&hgsid=99568548&knownGene=pack&hgFind.matches=uc001arv.1, | |
MLPHbase | Griscelli syndrome, type 3 (GS3) | Mauno Vihinen | FF156 | | | 606526 | MLPH | MLPH | MLPH | 102406 | MLPH | ENSG00000115648 | 19693 | Q9BV36 | 79083 | 79083 | 0059 | | chr2:238060617-238128700&hgsid=99568624&knownGene=pack&hgFind.matches=uc002vwv.1, | |
MPObase | Myeloperoxidase deficiency | Mauno Vihinen | FF82 | | | 606989 | MPO | MPO | MPO | 458272 | MPO | ENSG00000005381 | 4596 | P05164 | 4353 | 4353 | 0060 | | chr17:53702216-53713295&hgsid=99568675&knownGene=pack&hgFind.matches=uc002ivu.1, | |
MRE11Abase | Ataxia-telangiectasia-like disorder (ATLD) | Mauno Vihinen | FF120 | | | 600814 | MRE11A | MRE11A | MRE11A | 192649 | MRE11A | ENSG00000197535 | 6226 | P49959 | 4361 | 4361 | 0061 | | chr11:93790115-93866688&hgsid=99569041&knownGene=pack&hgFind.matches=uc001peu.1, | |
MYO5Abase | Griscelli syndrome, type 1 (GS1) | Mauno Vihinen | FF80 | | | 160777 | MYO5A | MYO5A | MYO5A | 21213 | MYO5A | ENSG00000197535 | 4888 | Q9Y4I1 | 4644 | 4644 | 0062 | | chr15:50386770-50608539&hgsid=99569354&knownGene=pack&hgFind.matches=uc002aby.1, | |
NCF1base | Autosomal recessive p47phox deficiency | Mauno Vihinen and Dirk Roos | FF40 | | | 608512 | NCF1 | NCF1 | NCF1 | 647047 | NCF1 | ENSG00000158517 | 9294 | P14598 | 4687 | 4687 | 0099 | | chr7:73826245-73841595&hgsid=99569371&knownGene=pack&hgFind.matches=uc003ubb.1, | |
NCF2base | Autosomal recessive p67phox deficiency | Mauno Vihinen and Dirk Roos | FF41 | | | 608515 | NCF2 | NCF2 | NCF2 | 587558 | NCF2 | ENSG00000116701 | 5172 | P19878 | 4688 | 4688 | 0100 | | chr1:181791320-181826634&hgsid=99569399&knownGene=pack&hgFind.matches=uc001gqk.1, | |
NFKBIAbase | Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency | Mauno Vihinen | FF121 | | | 164008 | NFKBIA | NFKBIA | NFKBIA | 81328 | NFKBIA | ENSG00000100906 | 200001 | P25963 | 4792 | 4792 | 0063 | | chr14:34940468-34943695&hgsid=99569427&knownGene=pack&hgFind.matches=uc001wtf.1, | |
NHEJ1base | Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR | Mauno Vihinen | FF152 | | | 611290 | NHEJ1 | NHEJ1 | NHEJ1 | 225988 | NHEJ1 | ENSG00000187736 | | Q9H9Q4 | 79840 | 79840 | 0113 | | chr2:219648292-219733767&hgsid=99569743&knownGene=pack&hgFind.matches=uc002vjp.1, | |
NPbase | PNP deficiency | Mauno Vihinen | FF11 | | | 164050 | NP | NP | NP | 75514 | NP | ENSG00000198805 | 5851 | P00491 | 4860 | 4860 | 0064 | | chr14:20007405-20015039&hgsid=99569774&knownGene=pack&hgFind.matches=uc001vxm.1, | |
NRASbase | Autoimmune lymphoproliferative syndrome type IV | Mauno Vihinen | FF162 | | | 164790 | NRAS | NRAS | NRAS | 486502 | NRAS | ENSG00000213281 | 7992 | P01111 | 4893 | 4893 | 0125 | | chr1:115051108-115061038&hgsid=99569811&knownGene=pack&hgFind.matches=uc001efg.1, | |
ORAI1base | Severe combined immunodeficiency | Mauno Vihinen | FF147 | | (previously known as TMEM142Abase) | 610277 | TMEM142A | TMEM142A | TMEM142A | 55148 | TMEM142A | ENSG00000182500 | | Q96D31 | 84876 | 84876 | 0114 | | chr12:120548858-120564322&hgsid=99569844&knownGene=pack&hgFind.matches=uc001uaw.1, | |
PRF1base | Familial haemophagocytic lymphohistiocytosis, type II (FHL2) | Mauno Vihinen | FF105 | | | 170280 | PRF1 | PRF1 | PRF1 | 2200 | PRF1 | ENSG00000180644 | 7208 | P14222 | 5551 | 5551 | 0067 | | chr10:72027110-72032520&hgsid=99569887&knownGene=pack&hgFind.matches=uc001jrf.1, | |
PRKDCbase | severe combined immunodeficiency (DNA-PKc) | Mauno Vihinen DNA-PKcs | | | | 600899 | PRKDC | | PRKDC | 491682 | PRKDC | ENSG00000253729 | | P78527 | 5591 | 0005591 | | | chr8:48685669-48872743 | |
PTPRCbase | CD45 deficiency | Mauno Vihinen | FF6 | | | 151460 | PTPRC | PTPRC | PTPRC | 654514 | PTPRC | ENSG00000081237 | 906 | P08575 | 5788 | 5788 | 0068 | | chr1:196874760-196993168&hgsid=99570213&knownGene=pack&hgFind.matches=uc001gut.1, | |
RAB27Abase | Griscelli syndrome, type 2 (GS2) | Mauno Vihinen | FF122 | | | 603868 | RAB27A | RAB27A | RAB27A | 654978 | RAB27A | ENSG00000069974 | 5991 | P51159 | 5873 | 5873 | 0069 | | chr15:53283092-53369293&hgsid=99570267&knownGene=pack&hgFind.matches=uc002acr.1, | |
RAC2base | Neutrophil immunodeficiency syndrome | Mauno Vihinen | FF123 | | | 602049 | RAC2 | RAC2 | RAC2 | 517601 | RAC2 | ENSG00000128340 | 1959 | P15153 | 5880 | 5880 | 0070 | | chr22:35951256-35970251&hgsid=99570293&knownGene=pack&hgFind.matches=uc003arc.1, | |
RAD50base | Nijmegen breakage syndrome-like syndrome | Mauno Vihinen | | | | 604040 | RAD50 | | RAD50 | 531388 | RAD50 | ENSG00000113522 | | Q92878 | 10111 | 0010111 | | | chr5:131891711-131980313 | |
RAG1base | RAG1 deficiency | Mauno Vihinen and Anna Villa | FF2 | | | 179615 | RAG1 | RAG1 | RAG1 | 73958 | RAG1 | ENSG00000166349 | 678 | P15918 | 5896 | 5896 | 0071 | | chr11:36493590-36571282&hgsid=99570306&knownGene=pack&hgFind.matches=uc001mwt.1, | |
RAG2base | RAG2 deficiency | Mauno Vihinen and Anna Villa | FF3 | | | 179616 | RAG2 | RAG2 | RAG2 | 159376 | RAG2 | ENSG00000175097 | 21670 | P55895 | 5897 | 5897 | 0072 | | chr11:36570069-36576362&hgsid=99570342&knownGene=pack&hgFind.matches=uc001mwv.1, | |
RASGRP2base | Leukocyte adhesion deficiency III | Mauno Vihinen | FF139 | | | 605577 | RASGRP2 | RASGRP2 | RASGRP2 | 99491 | RASGRP2 | ENSG00000068831 | 2229 | Q9UL65 | 10235 | 10235 | 0127 | | chr11:64250959-64269504&hgsid=99570364&knownGene=pack&hgFind.matches=uc001oav.1, | |
RFX5base | MHCII promoter X box regulatory factor 5 deficiency | Mauno Vihinen | FF13 | | | 601863 | RFX5 | RFX5 | RFX5 | 632472 | RFX5 | ENSG00000143390 | 2191 | P48382 | 5993 | 5993 | 0073 | | chr1:149579740-149586393&hgsid=99570402&knownGene=pack&hgFind.matches=uc001exv.1, | |
RFXANKbase | Ankyrin repeat containing regulatory factor X-associated protein deficiency | Mauno Vihinen | FF15 | | | 603200 | RFXANK | RFXANK | RFXANK | 296776 | RFXANK | ENSG00000064490 | 3535 | O14593 | 8625 | 8625 | 0074 | | chr19:19164008-19173678&hgsid=99570438&knownGene=pack&hgFind.matches=uc002nls.1, | |
RFXAPbase | Regulatory factor X-associated protein deficiency | Mauno Vihinen | FF14 | | | 601861 | RFXAP | RFXAP | RFXAP | 24422 | RFXAP | ENSG00000133111 | | O00287 | 5994 | 5994 | 0075 | | chr13:36291339-36301740&hgsid=99570479&knownGene=pack&hgFind.matches=uc001uvu.1, | |
RNF168base | Ataxia telangiectasia | Mauno Vihinen | | | | 612688 | RNF168 | | RNF168 | 250648 | RNF168 | ENSG00000163961 | | Q8IYW5 | 165918 | n/a | | | chr3:197680054-197715036 | |
SBDSbase | Shwachman-Diamond syndrome | Mauno Vihinen and Laszlo Marodi | FF84 | | | 607444 | SBDS | SBDS | SBDS | 110445 | SBDS | ENSG00000126524 | 10614 | Q9Y3A5 | 51119 | 51119 | 0076 | | chr7:66090125-66098023&hgsid=99570496&knownGene=pack&hgFind.matches=uc003tvm.1, | |
SERPING1base | Hereditary angioedema | Mauno Vihinen | FF97 | | | 606860 | SERPING1 | SERPING1 | SERPING1 | 384598 | SERPING1 | ENSG00000149131 | 2257 | P05155 | 710 | 710 | 0077 | | chr11:57121603-57138902&hgsid=99570520&knownGene=pack&hgFind.matches=uc001nkp.1, | |
SH2D1Abase | X-linked lymphoproliferative syndrome (XLP) | Mauno Vihinen and Luigi D. Notarangelo | FF73 | | | 300490 | SH2D1A | SH2D1A | SH2D1A | 349094 | SH2D1A | ENSG00000183918 | 8781 | O60880 | 4068 | 4068 | 0078 | | chrX:123307831-123334686&hgsid=99570566&knownGene=pack&hgFind.matches=uc004euf.1, | |
SLC35C1base | Leukocyte adhesion deficiency I I (LAD-II) | Mauno Vihinen | FF43 | | (previously known as FUCT1base) | 605881 | SLC35C1 | SLC35C1 | SLC35C1 | 12211 | SLC35C1 | ENSG00000181830 | 11091 | Q96A29 | 55343 | 55343 | 0036 | | chr11:45782501-45791143&hgsid=99570614&knownGene=pack&hgFind.matches=uc001nbo.1, | |
SMARCAL1base | Schimke immuno-osseous dysplasia | Mauno Vihinen | FF148 | | | 606622 | SMARCAL1 | SMARCAL1 | SMARCAL1 | 516674 | SMARCAL1 | ENSG00000138375 | 11602 | Q9NZC9 | 50485 | 50485 | 0079 | | chr2:216985441-217056019&hgsid=99570651&knownGene=pack&hgFind.matches=uc002vgc.1, | |
SP110base | Hepatic veno-occlusive disease with immunodeficiency syndrome (VODI) | Mauno Vihinen | FF158 | | | 604457 | SP110 | SP110 | SP110 | 145150 | SP110 | ENSG00000135899 | 7113 | | 3431 | 3431 | 0116 | NP_536349.1 | chr2:230741896-230792932&hgsid=99570690&knownGene=pack&hgFind.matches=uc002vqg.1, | |
SPINK5base | Netherton syndrome | Mauno Vihinen | FF133 | | | 605010 | SPINK5 | SPINK5 | SPINK5 | 331555 | SPINK5 | ENSG00000133710 | 1813 | Q9NQ38 | 11005 | 11005 | 0080 | | chr5:147423759-147497120&hgsid=99570732&knownGene=pack&hgFind.matches=uc003loy.1, | |
STAT1base | STAT1 deficiency | Mauno Vihinen | FF70 | | | 600555 | STAT1 | STAT1 | STAT1 | 642990 | STAT1 | ENSG00000115415 | 6150 | P42224 | 6772 | 6772 | 0081 | | chr2:191542121-191587181&hgsid=99570775&knownGene=pack&hgFind.matches=uc002usj.1, | |
STAT2base | STAT2 deficiency | Mauno Vihinen | | | | 600556 | STAT2 | STAT2 | STAT2 | 530595 | STAT2 | ENSG00000170581 | 6151 | P52630 | 6773 | 6773 | 0139 | | chr12:56735382-56754037&hgsid=324885791&knownGene=pack&hgFind.matches=uc001slc.3, | |
STAT3base | Hyper-IgE syndrome | Mauno Vihinen | FF167 | | | 102582 | STAT3 | STAT3 | STAT3 | 463059 | STAT3 | ENSG00000168610 | | P40763 | 6774 | 6774 | 0128 | | chr17:37718869-37794039&hgsid=99570994&knownGene=pack&hgFind.matches=uc002hzk.1, | |
STAT5Bbase | Growth hormone insensitivity with immunodeficiency | Mauno Vihinen | FF125 | | | 604260 | STAT5B | STAT5B | STAT5B | 632256 | STAT5B | ENSG00000173757 | 14198 | P51692 | 6777 | 6777 | 0082 | | chr17:37604721-37681950&hgsid=99571047&knownGene=pack&hgFind.matches=uc002hzh.1, | |
STIM1base | stromal interaction molecule | Mauno Vihinen | | | | 605921 | STIM1 | | STIM1 | 74597 | STIM1 | ENSG00000167323 | | Q13586 | 6786 | 0006786 | | | chr11:3875757-4114439 | |
STX11base | Familial haemophagocytic lymphohistiocytosis 4 | Mauno Vihinen | FF155 | | | 605014 | STX11 | STX11 | STX11 | 118958 | STX11 | ENSG00000135604 | 2207 | O75558 | 8676 | 8676 | 0083 | | chr6:144513362-144551196&hgsid=99571147&knownGene=pack&hgFind.matches=uc003qks.1, | |
STXBP2base | Hemophagocytic lymphohistiocytosis | Mauno Vihinen | | | | 601717 | STXBP2 | | STXBP2 | 515104 | STXBP2 | ENSG00000076944 | | Q15833 | 6813 | 0006813 | | | chr19:7607767-7618759 | |
TAP1base | TAP1 deficiency | Mauno Vihinen | FF107 | | | 170260 | TAP1 | TAP1 | TAP1 | 352018 | TAP1 | ENSG00000168394 | 7807 | Q03518 | 6890 | 6890 | 0084 | | chr6:32920964-32929726&hgsid=99571196&knownGene=pack&hgFind.matches=uc003ocg.1, | |
TAP2base | TAP2 deficiency | Mauno Vihinen | FF60 | | | 170261 | TAP2 | TAP2 | TAP2 | 502 | TAP2 | ENSG00000206235 | 6923 | Q03519 | 6891 | 6891 | 0085 | | chr6:32897588-32914525&hgsid=99571388&knownGene=pack&hgFind.matches=uc003ocb.1, | |
TAPBPbase | Tapasin deficiency | Mauno Vihinen | FF136 | | | 601962 | TAPBP | TAPBP | TAPBP | 370937 | TAPBP | ENSG00000112493 | 15379 | O15533 | 6892 | 6892 | 0086 | | chr6:33375450-33389967&hgsid=99571438&knownGene=pack&hgFind.matches=uc003odx.1, | |
TAZbase | Barth syndrome | Mauno Vihinen | FF134 | | | 300394 | TAZ | TAZ | TAZ | 409911 | TAZ | ENSG00000102125 | 16359 | Q16635 | 6901 | 6901 | 0087 | | chrX:153293071-153303257&hgsid=99571488&knownGene=pack&hgFind.matches=uc004fkx.1, | |
TCN2base | Transcobalamin II deficiency | Mauno Vihinen | FF130 | | | 275350 | TCN2 | TCN2 | TCN2 | 417948 | TCN2 | ENSG00000185339 | 3803 | P20062 | 6948 | 6948 | 0088 | | chr22:29333161-29353047&hgsid=99571625&knownGene=pack&hgFind.matches=uc003aip.1, | |
TLR3base | Influenza-associated encephalopathy | Mauno Vihinen | FF166 | | | 603029 | TLR3 | TLR3 | TLR3 | 657724 | TLR3 | ENSG00000164342 | 544 | O15455 | 7098 | 7098 | 0124 | | chr4:187227303-187243246&hgsid=99571648&knownGene=pack&hgFind.matches=uc003iyq.1, | |
TMC6base | Epidermodysplasia verruciformis | Mauno Vihinen | FF114 | | (previously known as EVER1base) | 605828 | TMC6 | TMC6 | TMC6 | 632227 | TMC6 | ENSG00000141524 | 356 | Q7Z403 | 11322 | 11322 | 0030 | | chr17:73620594-73640083&hgsid=99571712&knownGene=pack&hgFind.matches=uc002jul.1, | |
TMC8base | Epidermodysplasia verruciformis | Mauno Vihinen | FF115 | | (previously known as EVER2base) | 605829 | TMC8 | TMC8 | TMC8 | 592102 | TMC8 | ENSG00000167895 | | Q8IU68 | 147138 | 147138 | 0031 | | chr17:73638464-73649033&hgsid=99571818&knownGene=pack&hgFind.matches=uc002juq.1, | |
TNFRSF13Bbase | TACI deficiency | Mauno Vihinen | FF153 | | | 604907 | TNFRSF13B | TNFRSF13B | TNFRSF13B | 158341 | TNFRSF13B | ENSG00000108516 | 3705 | O14836 | 23495 | 23495 | 0105 | | chr17:16783123-16816127&hgsid=99571867&knownGene=pack&hgFind.matches=uc002gqs.1, | |
TYK2base | TYK2 deficiency | Mauno Vihinen | FF163 | | | 176941 | TYK2 | TYK2 | TYK2 | 75516 | TYK2 | ENSG00000105397 | 9591 | P29597 | 7297 | 7297 | 0118 | | chr19:10322209-10352211&hgsid=99571920&knownGene=pack&hgFind.matches=uc002moc.1, | |
UNC13Dbase | Familial hemophagocytic lymphohistiocytosis 3 | Mauno Vihinen | FF126 | | | 608897 | UNC13D | UNC13D | UNC13D | 41045 | UNC13D | ENSG00000092929 | 16342 | Q70J99 | 201294 | 201294 | 0091 | | chr17:71334902-71352393&hgsid=99571950&knownGene=pack&hgFind.matches=uc002jpp.1, | |
UNC93B1base | UNC93B deficiency (Herpes simplex encephalitis) | Mauno Vihinen | FF164 | | | 608204 | UNC93B1 | UNC93B1 | UNC93B1 | 502989 | UNC93B1 | ENSG00000110057 | 16342 | Q9H1C4 | 81622 | 81622 | 0122 | | chr11:67515151-67528169&hgsid=99571979&knownGene=pack&hgFind.matches=uc001omw.1, | |
UNGbase | UNG deficiency | Mauno Vihinen and Anne Durandy | FF127 | | | 191525 | UNG | UNG | UNG | 191334 | UNG | ENSG00000076248 | 7891 | P13051 | 7374 | 7374 | 0092 | | chr12:108019798-108033181&hgsid=99572010&knownGene=pack&hgFind.matches=uc001tnz.1, | |
WASbase | Wiskott-Aldrich syndrome (WAS) | Mauno Vihinen | FF71 | | | 300392 | WAS | WAS | WAS | 2157 | WAS | ENSG00000015285 | 1579 | P42768 | 7454 | 7454 | 0093 | | chrX:48427153-48434759&hgsid=99572030&knownGene=pack&hgFind.matches=uc004dkm.1, | |
ZAP70base | ZAP70 deficiency | Mauno Vihinen | FF62 | | | 176947 | ZAP70 | ZAP70 | ZAP70 | 234569 | ZAP70 | ENSG00000115085 | 6160 | P43403 | 7535 | 7535 | 0057 | | chr2:97696463-97722755&hgsid=99572055&knownGene=pack&hgFind.matches=uc002syd.1, | |