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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:phagocyte bactericidal dysfunction
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Accession:DOID:3262 term browser browse the term
Definition:Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.
Synonyms:exact_synonym: Phagocyte Bactericidal Dysfunctions;   phagocytic dysfunction
 primary_id: MESH:D010585;   RDO:0005184
For additional species annotation, visit the Alliance of Genome Resources.


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phagocyte bactericidal dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO DNA:mutations: :multiple (human) RGD PMID:18422995 RGD:4779762 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
Autosomal Recessive Chronic Granulomatous Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybc1 cytochrome b-245 chaperone 1 ISO ClinVar Annotator: match by term: Autosomal recessive chronic granulomatous disease 5 OMIM
ClinVar
PMID:28600779, PMID:30312704, PMID:30361506 NCBI chr10:110,424,973...110,431,792
Ensembl chr10:110,424,974...110,431,792
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-negative term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
ClinVar Annotator: match by OMIM:233690
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1415254, PMID:1763037, PMID:2243141, PMID:3368442, PMID:3571224, PMID:4384563, PMID:9445163, PMID:10440830, PMID:10759707, PMID:10910929, PMID:10914676, PMID:12073015, PMID:18422995, PMID:19292887, PMID:19388116, PMID:19949658, PMID:20167518, PMID:20674832, PMID:22336310, PMID:22876374, PMID:22924696, PMID:25741868, PMID:27537055, PMID:27980538, PMID:28492532, PMID:29454792, PMID:30470980, PMID:30709874 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative ClinVar PMID:28492532 NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: p47-PHOX DEFICIENCY
ClinVar Annotator: match by term: p47-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233700
OMIM
ClinVar
PMID:742630, PMID:7678602, PMID:11133775, PMID:11433300, PMID:16972229, PMID:24446915, PMID:25741868 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF
ClinVar Annotator: match by OMIM:233710
OMIM
ClinVar
PMID:7795241, PMID:8781442, PMID:10498624, PMID:10598813, PMID:11499676, PMID:18625437, PMID:19624736, PMID:20167518, PMID:21900546, PMID:24033266, PMID:24931457, PMID:25741868, PMID:25937994, PMID:28492532 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
autosomal recessive chronic granulomatous disease cytochrome b-positive type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncf1 neutrophil cytosolic factor 1 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III ClinVar PMID:24446915, PMID:25741868 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
ClinVar Annotator: match by OMIM:613960
OMIM
ClinVar
PMID:19692703, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29454792, PMID:29969437 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator IAGP
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by OMIM:214500
ClinVar
OMIM
PMID:8717042, PMID:8751863, PMID:8896560, PMID:9215679, PMID:9215680, PMID:10482950, PMID:10648412, PMID:11857544, PMID:17554367, PMID:18485661, PMID:21878672, PMID:24033266, PMID:24072239, PMID:24112114, PMID:25047945, PMID:25741868, PMID:26597256, PMID:27872624, PMID:28145517, PMID:28193763, PMID:28458669, PMID:28492532, PMID:30311386, PMID:30383631, PMID:30899265, PMID:10384041 RGD:633300 NCBI chr17:90,323,055...90,522,091 JBrowse link
chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyba cytochrome b-245 alpha chain ISO autosomal recessive cytochrome b-negative CGD, OMIM:233690;DNA:missense mutation: :p.R90Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic granulomatous disease
DNA:nonsense,missense mutations:exons:35C>T, 98G>A,(p.Q3X,G24R)(human)
DNA:mutations:multiple (human)
CTD
ClinVar
PMID:1763037, PMID:2243141, PMID:20167518, PMID:1415254, PMID:10759707, PMID:2243141 RGD:1600791, RGD:11040541, RGD:734861 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cybb cytochrome b-245 beta chain ISO DNA:point mutations:promoter
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Chronic granulomatous disease
DNA:mutations:promoter:
CTD
ClinVar
PMID:11045425, PMID:11122248, PMID:11498749, PMID:17293536, PMID:21278736, PMID:8083361, PMID:11122248 RGD:1599664, RGD:11040566 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:4125296 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Ifng interferon gamma ISO RGD PMID:22883043 RGD:6893353 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Ncf1 neutrophil cytosolic factor 1 ISO
ISS
autosomal recessive cytochrome b-positive CGC type I, OMIM:233700, DNA:splice-site mutation:75delGT
OMIM:138990 | OMIM:233690 | OMIM:233700 | OMIM:233710 | OMIM:306400 | OMIM:613960
MouseDO PMID:7678602, PMID:2393022 RGD:1600562, RGD:1624401 NCBI chr12:25,497,104...25,506,300
Ensembl chr12:25,497,104...25,506,300
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: Chronic granulomatous disease ClinVar PMID:2393022 RGD:1624401 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G Ncf4 neutrophil cytosolic factor 4 ISO ClinVar Annotator: match by term: Granulomatous Disease, Chronic
ClinVar Annotator: match by term: Chronic granulomatous disease
ClinVar PMID:19692703, PMID:29969437 NCBI chr 7:119,481,711...119,499,426
Ensembl chr 7:119,482,272...119,499,425
JBrowse link
G Tlr5 toll-like receptor 5 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr9 toll-like receptor 9 ISO protein:decreased expression:blood, neutrophil (human) RGD PMID:18155283 RGD:5130865 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
Combined Cellular and Humoral Immune Defects with Granulomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas ClinVar PMID:8810255, PMID:25739914, PMID:28492532 NCBI chr 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar Annotator: match by OMIM:233650
OMIM
ClinVar
PMID:8810255, PMID:9630231, PMID:10701853, PMID:10891452, PMID:11133745, PMID:11313270, PMID:11520796, PMID:11908269, PMID:11971977, PMID:12200379, PMID:15908971, PMID:16276422, PMID:16960852, PMID:17075247, PMID:17572155, PMID:17890453, PMID:18056378, PMID:18442948, PMID:18463379, PMID:18592361, PMID:18701881, PMID:18822103, PMID:19064334, PMID:19246248, PMID:19458910, PMID:19830075, PMID:19912631, PMID:20109747, PMID:20489056, PMID:20956421, PMID:21131235, PMID:21184155, PMID:21502542, PMID:21624848, PMID:21664875, PMID:21771083, PMID:22424479, PMID:23085344, PMID:23122631, PMID:24122031, PMID:24144642, PMID:24290284, PMID:24331380, PMID:24406074, PMID:24418478, PMID:24472623, PMID:24817258, PMID:24985406, PMID:25516070, PMID:25739914, PMID:25741868, PMID:25976673, PMID:26186701, PMID:26457731, PMID:26476733, PMID:26596586, PMID:26829731, PMID:27301863, PMID:27609655, PMID:28216420, PMID:28492532, PMID:28747913, PMID:28769923, PMID:28864286, PMID:30290665, PMID:30307608, PMID:30858051 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas
ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas
OMIM
ClinVar
PMID:8810255, PMID:10777560, PMID:10891502, PMID:11133745, PMID:11138625, PMID:11313270, PMID:15025726, PMID:16111638, PMID:16960852, PMID:17572155, PMID:18033247, PMID:18463379, PMID:19178939, PMID:19414857, PMID:20234091, PMID:20603253, PMID:21131235, PMID:21502542, PMID:21624848, PMID:21625022, PMID:22295088, PMID:23243423, PMID:23994475, PMID:24139496, PMID:24144642, PMID:24174341, PMID:24331380, PMID:24481607, PMID:25707801, PMID:25739914, PMID:25741868, PMID:25869295, PMID:26186701, PMID:26457731, PMID:26476733, PMID:26515615, PMID:26692406, PMID:26915675, PMID:28492532, PMID:28747913, PMID:28769923, PMID:29051008, PMID:29772310, PMID:30305145, PMID:30307608 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link
hyper IgE recurrent infection syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il4r interleukin 4 receptor no_association ISO DNA:mutation:cds:p.Q576R(human) RGD PMID:9537881 RGD:11530003 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant ClinVar PMID:25741868, PMID:32207811 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant
ClinVar Annotator: match by term: Job syndrome
ClinVar
OMIM
PMID:4161105, PMID:17676033, PMID:17881745, PMID:17942886, PMID:18591410, PMID:18591412, PMID:18602572, PMID:18706697, PMID:18978467, PMID:19577286, PMID:20032313, PMID:20048285, PMID:20159255, PMID:20301786, PMID:20816194, PMID:21107604, PMID:21324546, PMID:21690253, PMID:21792878, PMID:22030463, PMID:22520845, PMID:22581330, PMID:22591296, PMID:22751495, PMID:23342295, PMID:23584561, PMID:23584591, PMID:23659370, PMID:23830147, PMID:24033266, PMID:24452316, PMID:24627079, PMID:24995504, PMID:25038750, PMID:25359994, PMID:25741868, PMID:25873174, PMID:26343524, PMID:26384563, PMID:26394394, PMID:26702067, PMID:26743515, PMID:27091139, PMID:27226025, PMID:27302695, PMID:27379089, PMID:27799162, PMID:27980540, PMID:28073828, PMID:28098554, PMID:28197791, PMID:28253502, PMID:28315006, PMID:28492532, PMID:28579554, PMID:28587312, PMID:28977911, PMID:29077208, PMID:29162862, PMID:29180260, PMID:29296824, PMID:29330115, PMID:29868029, PMID:17676033 RGD:6892956 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
hyper IgE recurrent infection syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:14722525, PMID:18060736, PMID:19776401, PMID:24033266, PMID:25724123, PMID:25741868, PMID:26046366, PMID:26744459, PMID:28492532, PMID:30311386 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
hyper IgE recurrent infection syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp341 zinc finger protein 341 ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:25741868, PMID:29907690, PMID:29907691 NCBI chr 3:150,114,853...150,172,425 JBrowse link
hyper IgE recurrent infection syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:28747427, PMID:30309848 NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
hyper IgE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H9orf66 chromosome 1 open reading frame, human C9orf66 ISO ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar PMID:14722525, PMID:18060736, PMID:19776401, PMID:20004785, PMID:20226292, PMID:22085750, PMID:22476911, PMID:25724123, PMID:26680607, PMID:27980540, PMID:28492532 NCBI chr 1:242,958,912...242,961,750 JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by OMIM:243700
ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
ClinVar Annotator: match by term: HIES autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar
CTD
PMID:14722525, PMID:16391785, PMID:18060736, PMID:19776401, PMID:20004785, PMID:20226292, PMID:22085750, PMID:22476911, PMID:24033266, PMID:24797421, PMID:25724123, PMID:25741868, PMID:26046366, PMID:26573532, PMID:26680607, PMID:26744459, PMID:27379089, PMID:27872624, PMID:27890707, PMID:27980540, PMID:28492532, PMID:29867916, PMID:30311386 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Dop1a DOP1 leucine zipper like protein A ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:24698316 NCBI chr 8:94,122,733...94,225,131
Ensembl chr 8:94,122,728...94,225,031
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16112032 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO ClinVar Annotator: match by term: Hyper-IgE syndrome ClinVar PMID:3500672, PMID:24698316 NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyper-IgE syndrome
ClinVar Annotator: match by term: Hyperimmunoglobulin E syndrome
CTD
ClinVar
PMID:17881745, PMID:18591412, PMID:18602572, PMID:18706697, PMID:18978467, PMID:20032313, PMID:20159255, PMID:20301786, PMID:20816194, PMID:21792878, PMID:22751495, PMID:24033266, PMID:25038750, PMID:25741868, PMID:26384563, PMID:27226025, PMID:27799162, PMID:27980540, PMID:28098554, PMID:28315006, PMID:28492532, PMID:29077208, PMID:29868029 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
Hyper-IgE Recurrent Infection Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6r interleukin 6 receptor ISO ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE ClinVar
OMIM
PMID:31235509 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
immunodeficiency 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Atypical mycobacteriosis, familial, X-linked 2
ClinVar Annotator: match by OMIM:300645
OMIM
ClinVar
PMID:17293536, PMID:21278736, PMID:25741868, PMID:28492532 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
immunodeficiency 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyk2 tyrosine kinase 2 ISO ClinVar Annotator: match by term: Tyrosine kinase 2 deficiency
ClinVar Annotator: match by OMIM:611521
OMIM
ClinVar
PMID:17088085, PMID:21680795, PMID:22402565, PMID:24033266, PMID:25388448, PMID:25741868, PMID:25849893, PMID:26288847, PMID:26304966, PMID:27872624, PMID:28492532, PMID:29725107, PMID:31118190 NCBI chr 8:22,118,224...22,149,807
Ensembl chr 8:22,124,560...22,150,005
JBrowse link
X-linked chronic granulomatous disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cybb cytochrome b-245 beta chain treatment ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked
ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked, variant
ClinVar Annotator: match by OMIM:306400
DNA:deletion:cds:
DNA:missense mutations:exons:1558T>C,937G>A,1271T>C,313C>T(human)
OMIM
ClinVar
PMID:1347621, PMID:1438069, PMID:1710153, PMID:1719419, PMID:2072910, PMID:2523713, PMID:2556453, PMID:2838754, PMID:3600768, PMID:8101486, PMID:8182143, PMID:8634410, PMID:8655140, PMID:8900212, PMID:8916969, PMID:8961628, PMID:9585602, PMID:9667376, PMID:9856476, PMID:10068684, PMID:10089913, PMID:10627478, PMID:10828042, PMID:10914676, PMID:10980575, PMID:11112388, PMID:11162142, PMID:11413138, PMID:11435314, PMID:11462241, PMID:11566256, PMID:11700292, PMID:11997083, PMID:12094329, PMID:12139950, PMID:12589359, PMID:14697745, PMID:15338276, PMID:18509647, PMID:18546332, PMID:18708296, PMID:19410294, PMID:19483051, PMID:20228266, PMID:20724480, PMID:20729109, PMID:21190454, PMID:21659519, PMID:22540226, PMID:22876374, PMID:22924737, PMID:22929960, PMID:23193493, PMID:23859418, PMID:23910690, PMID:23956436, PMID:24276928, PMID:24943880, PMID:24999735, PMID:25252997, PMID:25666294, PMID:25741868, PMID:26185101, PMID:26453586, PMID:27701760, PMID:28168067, PMID:28251166, PMID:28492532, PMID:29560547, PMID:29702544, PMID:30237823, PMID:30470980, PMID:30506560, PMID:30633606, PMID:12804147, PMID:7694872, PMID:10068684 RGD:11040567, RGD:11040562, RGD:11040560 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960, PMID:27701760, PMID:28492532 NCBI chr  X:14,633,342...14,642,356
Ensembl chr  X:14,633,342...14,642,424
JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960, PMID:27701760, PMID:28492532 NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960, PMID:27701760, PMID:28492532 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960, PMID:27701760, PMID:28492532 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960, PMID:27701760, PMID:28492532 NCBI chr  X:14,146,618...14,220,756
Ensembl chr  X:14,150,038...14,220,662
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Chronic granulomatous disease, X-linked ClinVar PMID:22929960, PMID:27701760, PMID:28492532 NCBI chr  X:13,857,669...14,109,592
Ensembl chr  X:14,019,961...14,109,568
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      primary immunodeficiency disease 2340
        phagocyte bactericidal dysfunction 31
          Chediak-Higashi syndrome + 1
          chronic granulomatous disease + 20
          hyper IgE syndrome + 11
          immunodeficiency 34 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Immune & Inflammatory Diseases 3504
        immune system disease 2921
          primary immunodeficiency disease 2340
            phagocyte bactericidal dysfunction 31
              Chediak-Higashi syndrome + 1
              chronic granulomatous disease + 20
              hyper IgE syndrome + 11
              immunodeficiency 34 1
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.