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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Unusual CNS infection
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Accession:HP:0011450 term browser browse the term
Definition:A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.
Synonyms:exact_synonym: Central nervous system infection
 xref: MESH:D002494;   SNOMEDCT_US:128117002;   UMLS:C0007684



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Unusual CNS infection term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARP1 poly(ADP-ribose) polymerase 1 susceptibility IAGP DNA:snp:cds:p.V762A (rs1136410) RGD PMID:21651918 RGD:5683901 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
Brain abscess term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP OMIM:600376 HPO NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ENG endoglin IAGP OMIM:187300 HPO NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
Chronic lymphocytic meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIITA class II major histocompatibility complex transactivator IAGP OMIM:209920 HPO NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G RFX5 regulatory factor X5 IAGP OMIM:209920 HPO NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP OMIM:209920 HPO NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G RFXAP regulatory factor X associated protein IAGP OMIM:209920 HPO NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP ORPHA:99843 HPO NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016
JBrowse link
Cryptococcal meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL7 interleukin 7 IAGP OMIM:618309 HPO NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
JBrowse link
EBV encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD27 CD27 molecule IAGP OMIM:615122 HPO NCBI chr12:6,444,955...6,451,713
Ensembl chr12:6,444,955...6,451,718
JBrowse link
Enteroviral encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40LG CD40 ligand IAGP OMIM:308230 HPO NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
Herpes simplex encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYOU1 hypoxia up-regulated 1 IAGP OMIM:233600 HPO NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227
JBrowse link
G IRF3 interferon regulatory factor 3 IAGP OMIM:616532 HPO NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
JBrowse link
G NCKAP1L NCK associated protein 1 like IAGP OMIM:618982 HPO NCBI chr12:54,497,752...54,548,243
Ensembl chr12:54,497,752...54,548,243
JBrowse link
G SNORA31 small nucleolar RNA, H/ACA box 31 IAGP OMIM:619396 HPO NCBI chr13:45,337,480...45,337,609
Ensembl chr13:45,337,480...45,337,609
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP OMIM:613796 OMIM:614892 HPO NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G TBK1 TANK binding kinase 1 IAGP OMIM:617900 HPO NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 IAGP OMIM:614850 HPO NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
JBrowse link
G TLR3 toll like receptor 3 IAGP OMIM:613002 HPO NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP OMIM:610551 HPO NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
JBrowse link
Infectious encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler IAGP ORPHA:847 HPO NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP OMIM:616098 HPO NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
JBrowse link
G BTK Bruton tyrosine kinase IAGP OMIM:300755 OMIM:307200 HPO NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP OMIM:209920 HPO NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP ORPHA:2116 HPO NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:117 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP ORPHA:117 HPO NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ORPHA:464 HPO NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:117 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IRF4 interferon regulatory factor 4 IAGP ORPHA:3452 HPO NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP ORPHA:79314 HPO NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
JBrowse link
G LBR lamin B receptor IAGP ORPHA:779 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ORPHA:117 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G PRF1 perforin 1 IAGP OMIM:603553 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G RFX5 regulatory factor X5 IAGP OMIM:209920 HPO NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP OMIM:209920 HPO NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
JBrowse link
G RFXAP regulatory factor X associated protein IAGP OMIM:209920 HPO NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
JBrowse link
G SH2D1A SH2 domain containing 1A IAGP OMIM:308240 HPO NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197
JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP ORPHA:2116 HPO NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP ORPHA:391487 HPO NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STX11 syntaxin 11 IAGP ORPHA:540 HPO NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP ORPHA:540 HPO NCBI chr19:7,637,110...7,647,873
Ensembl chr19:7,636,772...7,647,873
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TMEM70 transmembrane protein 70 IAGP ORPHA:1194 HPO NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G TOM1 target of myb1 membrane trafficking protein IAGP ORPHA:391487 HPO NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
G UNC13D unc-13 homolog D IAGP ORPHA:540 HPO NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785
JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP OMIM:308240 HPO NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
Meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP OMIM:617718 HPO NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
JBrowse link
G BCL2 BCL2 apoptosis regulator IAGP ORPHA:545 HPO NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL6 BCL6 transcription repressor IAGP ORPHA:545 HPO NCBI chr 3:187,721,377...187,745,468
Ensembl chr 3:187,721,377...187,745,725
JBrowse link
G BLNK B cell linker IAGP ORPHA:33110 HPO NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
JBrowse link
G BTK Bruton tyrosine kinase IAGP OMIM:300755 OMIM:307200 ORPHA:47 HPO NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP ORPHA:117 HPO NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681
JBrowse link
G C4B complement C4B (Chido blood group) IAGP OMIM:614379 HPO NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
JBrowse link
G C8A complement C8 alpha chain IAGP OMIM:613790 HPO NCBI chr 1:56,854,797...56,918,223
Ensembl chr 1:56,854,768...56,918,223
JBrowse link
G C8B complement C8 beta chain IAGP OMIM:613789 HPO NCBI chr 1:56,929,207...56,966,015
Ensembl chr 1:56,929,207...56,974,383
JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP OMIM:212050 HPO NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CD19 CD19 molecule IAGP OMIM:240500 HPO NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
JBrowse link
G CD40LG CD40 ligand IAGP OMIM:308230 HPO NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G CD79A CD79a molecule IAGP ORPHA:33110 HPO NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
JBrowse link
G CD79B CD79b molecule IAGP ORPHA:33110 HPO NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
JBrowse link
G CFB complement factor B IAGP OMIM:615561 HPO NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CR2 complement C3d receptor 2 IAGP OMIM:240500 HPO NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP ORPHA:900 HPO NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 IAGP ORPHA:51636 HPO NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP ORPHA:379 HPO NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G CYBB cytochrome b-245 beta chain IAGP ORPHA:379 HPO NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP ORPHA:379 HPO NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G DNASE1L3 deoxyribonuclease 1 like 3 IAGP ORPHA:36412 HPO NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP ORPHA:464370 HPO NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963
JBrowse link
G FOXP3 forkhead box P3 IAGP ORPHA:37042 HPO NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP ORPHA:397 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP ORPHA:900 HPO NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP ORPHA:900 HPO NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,990...33,089,696
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP ORPHA:397 HPO NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G ICOS inducible T cell costimulator IAGP OMIM:240500 HPO NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP ORPHA:117 HPO NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
JBrowse link
G IGH immunoglobulin heavy locus IAGP ORPHA:545 HPO NCBI chr14:105,586,437...106,879,844 JBrowse link
G IGHM immunoglobulin heavy constant mu IAGP ORPHA:33110 HPO NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
JBrowse link
G IGLL1 immunoglobulin lambda like polypeptide 1 IAGP OMIM:613500 ORPHA:33110 HPO NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12A interleukin 12A IAGP ORPHA:117 HPO NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP ORPHA:117 HPO NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G JAK3 Janus kinase 3 IAGP OMIM:600802 HPO NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A IAGP ORPHA:33110 HPO NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039
JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP OMIM:249100 ORPHA:117 ORPHA:342 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MRTFA myocardin related transcription factor A IAGP OMIM:618847 HPO NCBI chr22:40,410,289...40,636,719
Ensembl chr22:40,410,281...40,636,719
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP ORPHA:379 HPO NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP ORPHA:379 HPO NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP ORPHA:379 HPO NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ORPHA:2177 HPO NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP OMIM:616050 HPO NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP OMIM:607115 ORPHA:1451 HPO NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108
JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP ORPHA:397 HPO NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ORPHA:33110 HPO NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PRF1 perforin 1 IAGP OMIM:603553 HPO NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G PRTN3 proteinase 3 IAGP ORPHA:900 HPO NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP ORPHA:397 ORPHA:900 HPO NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G RAG1 recombination activating 1 IAGP OMIM:601457 HPO NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
JBrowse link
G RAG2 recombination activating 2 IAGP OMIM:601457 HPO NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
JBrowse link
G SH2D1A SH2 domain containing 1A IAGP OMIM:308240 HPO NCBI chr  X:124,346,563...124,373,160
Ensembl chr  X:124,227,868...124,373,197
JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP OMIM:619707 HPO NCBI chr11:47,354,860...47,395,607
Ensembl chr11:47,354,860...47,378,547
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 HPO NCBI chr 2:191,029,576...191,246,175
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TBK1 TANK binding kinase 1 IAGP OMIM:617900 HPO NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
G TCF3 transcription factor 3 IAGP ORPHA:33110 HPO NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G TFRC transferrin receptor IAGP OMIM:616740 HPO NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
JBrowse link
G TLR3 toll like receptor 3 IAGP OMIM:613002 HPO NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP OMIM:240500 HPO NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP OMIM:240500 HPO NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP OMIM:600145 HPO NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ORPHA:906 HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP ORPHA:906 HPO NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
JBrowse link
G XIAP X-linked inhibitor of apoptosis IAGP OMIM:308240 HPO NCBI chr  X:123,859,708...123,913,972
Ensembl chr  X:123,859,712...123,913,972
JBrowse link
Recurrent bacterial meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL2RG interleukin 2 receptor subunit gamma IAGP OMIM:300400 HPO NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link
Recurrent meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFI complement factor I IAGP OMIM:610984 HPO NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IAGP OMIM:612260 HPO NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,024
JBrowse link
G WAS WASP actin nucleation promoting factor IAGP OMIM:301000 HPO NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431
JBrowse link
Viral encephalitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBR1 debranching RNA lariats 1 IAGP OMIM:619441 HPO NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the nervous system 10551
        Abnormal nervous system morphology 4209
          Morphological central nervous system abnormality 4062
            Unusual CNS infection 107
              Brain abscess 2
              Infectious encephalitis + 48
              Meningitis + 79
              Recurrent meningitis + 4
Path 2
Term Annotations click to browse term
  Human phenotype 15292
    Phenotypic abnormality 15290
      Abnormality of the immune system 2498
        Abnormality of immune system physiology 2102
          Unusual infection 1033
            Unusual infection by anatomical site 111
              Unusual CNS infection 107
                Brain abscess 2
                Infectious encephalitis + 48
                Meningitis + 79
                Recurrent meningitis + 4
paths to the root