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	agammaglobulinemia

Disease ID	602
Disease	agammaglobulinemia
Definition	An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
Synonym	agammaglobulinaemia agammaglobulinaemia -retired- agammaglobulinemia (disorder) agammaglobulinemia (finding) agammaglobulinemia -retired- agammaglobulinemia [disease/finding] agammaglobulinemia nos agammaglobulinemia, nos agammaglobulinemias
Orphanet	ORPHANET:183669
DOID	DOID:2583
UMLS	C0001768
MeSH	D000361
SNOMED-CT	SNOMEDCT_US_2016_09_01:119249001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:14) C0553662 \| juvenile idiopathic arthritis \| 2 C0003864 \| arthritis \| 2 C0002726 \| amyloidosis \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0002986 \| fabry's disease \| 1 C0032285 \| pneumonia \| 1 C0013338 \| growth hormone deficiency \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0035021 \| recurrent fever \| 1 C0014038 \| encephalitis \| 1 C0034212 \| pyoderma \| 1 C0024291 \| hemophagocytic syndrome \| 1 C0013421 \| dystonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:14) 931 \| MS4A1 \| GHR 695 \| BTK \| CTD_human;GHR 1380 \| CR2 \| GHR 56262 \| LRRC8A \| CTD_human 23495 \| TNFRSF13B \| GHR 987 \| LRBA \| GHR 5580 \| PRKCD \| GHR 975 \| CD81 \| GHR 4791 \| NFKB2 \| GHR 930 \| CD19 \| CTD_human;GHR 29851 \| ICOS \| GHR 3543 \| IGLL1 \| CTD_human 115650 \| TNFRSF13C \| GHR 973 \| CD79A \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 695 \| BTK \| CIPHER;CTD_human 23495 \| TNFRSF13B \| CIPHER 56262 \| LRRC8A \| CTD_human 930 \| CD19 \| CTD_human 3543 \| IGLL1 \| CTD_human 973 \| CD79A \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:134) 11332 \| ACOT7 \| 1.238 \| DISEASES 55 \| ACPP \| 2.544 \| DISEASES 100 \| ADA \| 1.355 \| DISEASES 60509 \| AGBL5 \| 1.986 \| DISEASES 79087 \| ALG12 \| 1.618 \| DISEASES 310 \| ANXA7 \| 1.615 \| DISEASES 537 \| ATP6AP1 \| 1.238 \| DISEASES 23545 \| ATP6V0A2 \| 1.324 \| DISEASES 567 \| B2M \| 1.835 \| DISEASES 56244 \| BTNL2 \| 1.268 \| DISEASES 720 \| C4A \| 1.974 \| DISEASES 721 \| C4B \| 1.372 \| DISEASES 774 \| CACNA1B \| 1.945 \| DISEASES 84433 \| CARD11 \| 1.785 \| DISEASES 64170 \| CARD9 \| 1.467 \| DISEASES 147372 \| CCBE1 \| 1.433 \| DISEASES 930 \| CD19 \| 5.15 \| DISEASES 914 \| CD2 \| 1.856 \| DISEASES 919 \| CD247 \| 1.398 \| DISEASES 958 \| CD40 \| 4.078 \| DISEASES 959 \| CD40LG \| 6.249 \| DISEASES 921 \| CD5 \| 2.828 \| DISEASES 965 \| CD58 \| 1.585 \| DISEASES 974 \| CD79B \| 3.371 \| DISEASES 9308 \| CD83 \| 1.786 \| DISEASES 942 \| CD86 \| 2.662 \| DISEASES 1380 \| CR2 \| 4.997 \| DISEASES 6387 \| CXCL12 \| 2.743 \| DISEASES 7852 \| CXCR4 \| 3.387 \| DISEASES 51428 \| DDX41 \| 1.122 \| DISEASES 1789 \| DNMT3B \| 2.141 \| DISEASES 81704 \| DOCK8 \| 1.291 \| DISEASES 135656 \| DPCR1 \| 1.312 \| DISEASES 1847 \| DUSP5 \| 2.166 \| DISEASES 1850 \| DUSP8 \| 1.746 \| DISEASES 2051 \| EPHB6 \| 1.778 \| DISEASES 55763 \| EXOC1 \| 1.46 \| DISEASES 355 \| FAS \| 2.642 \| DISEASES 2213 \| FCGR2B \| 1.761 \| DISEASES 2214 \| FCGR3A \| 2.895 \| DISEASES 50943 \| FOXP3 \| 2.826 \| DISEASES 2534 \| FYN \| 1.689 \| DISEASES 2624 \| GATA2 \| 1.238 \| DISEASES 2868 \| GRK4 \| 1.16 \| DISEASES 2870 \| GRK6 \| 1.436 \| DISEASES 2969 \| GTF2I \| 1.698 \| DISEASES 3105 \| HLA-A \| 1.462 \| DISEASES 3119 \| HLA-DQB1 \| 1.082 \| DISEASES 3120 \| HLA-DQB2 \| 1.056 \| DISEASES 23308 \| ICOSLG \| 2.163 \| DISEASES 8519 \| IFITM1 \| 1.996 \| DISEASES 3543 \| IGLL1 \| 2.647 \| DISEASES 8517 \| IKBKG \| 2.975 \| DISEASES 10320 \| IKZF1 \| 1.842 \| DISEASES 3586 \| IL10 \| 3.012 \| DISEASES 3605 \| IL17A \| 2.018 \| DISEASES 50615 \| IL21R \| 2.546 \| DISEASES 3559 \| IL2RA \| 2.295 \| DISEASES 3561 \| IL2RG \| 2.762 \| DISEASES 51135 \| IRAK4 \| 1.771 \| DISEASES 359948 \| IRF2BP2 \| 3.028 \| DISEASES 3702 \| ITK \| 3.98 \| DISEASES 3718 \| JAK3 \| 2.009 \| DISEASES 55683 \| KANSL3 \| 1.047 \| DISEASES 28956 \| LAMTOR2 \| 2.24 \| DISEASES 3932 \| LCK \| 1.397 \| DISEASES 3981 \| LIG4 \| 1.34 \| DISEASES 987 \| LRBA \| 3.665 \| DISEASES 23507 \| LRRC8B \| 3.116 \| DISEASES 84230 \| LRRC8C \| 2.786 \| DISEASES 55144 \| LRRC8D \| 2.314 \| DISEASES 4049 \| LTA \| 1.259 \| DISEASES 4067 \| LYN \| 2.871 \| DISEASES 84061 \| MAGT1 \| 1.192 \| DISEASES 4153 \| MBL2 \| 1.302 \| DISEASES 4289 \| MKLN1 \| 1.865 \| DISEASES 4311 \| MME \| 1.052 \| DISEASES 8510 \| MMP23B \| 1.22 \| DISEASES 4439 \| MSH5 \| 3.591 \| DISEASES 727897 \| MUC5B \| 2.109 \| DISEASES 4615 \| MYD88 \| 2.117 \| DISEASES 84901 \| NFATC2IP \| 2.09 \| DISEASES 4791 \| NFKB2 \| 3.281 \| DISEASES 79840 \| NHEJ1 \| 1.111 \| DISEASES 4942 \| OAT \| 1.49 \| DISEASES 7932 \| OR2H2 \| 2.08 \| DISEASES 5079 \| PAX5 \| 2.063 \| DISEASES 5230 \| PGK1 \| 1.101 \| DISEASES 5293 \| PIK3CD \| 1.869 \| DISEASES 5333 \| PLCD1 \| 1.065 \| DISEASES 5336 \| PLCG2 \| 4.274 \| DISEASES 57480 \| PLEKHG1 \| 2.841 \| DISEASES 5450 \| POU2AF1 \| 2.155 \| DISEASES 639 \| PRDM1 \| 1.359 \| DISEASES 5580 \| PRKCD \| 2.239 \| DISEASES 55660 \| PRPF40A \| 1.311 \| DISEASES 5788 \| PTPRC \| 1.957 \| DISEASES 25780 \| RASGRP3 \| 1.159 \| DISEASES 100151683 \| RNU4ATAC \| 1.549 \| DISEASES 91582 \| RPS19BP1 \| 1.67 \| DISEASES 5265 \| SERPINA1 \| 1.858 \| DISEASES 4068 \| SH2D1A \| 5.718 \| DISEASES 9467 \| SH3BP5 \| 1.694 \| DISEASES 27180 \| SIGLEC9 \| 1.423 \| DISEASES 6520 \| SLC3A2 \| 1.365 \| DISEASES 113235 \| SLC46A1 \| 1.635 \| DISEASES 9751 \| SNPH \| 1.605 \| DISEASES 6693 \| SPN \| 1.011 \| DISEASES 6714 \| SRC \| 3.27 \| DISEASES 6772 \| STAT1 \| 1.69 \| DISEASES 8676 \| STX11 \| 1.679 \| DISEASES 6850 \| SYK \| 2.927 \| DISEASES 54457 \| TAF7L \| 2.467 \| DISEASES 7006 \| TEC \| 2.51 \| DISEASES 1678 \| TIMM8A \| 1.897 \| DISEASES 7099 \| TLR4 \| 1.72 \| DISEASES 51284 \| TLR7 \| 2.449 \| DISEASES 54106 \| TLR9 \| 3.694 \| DISEASES 7124 \| TNF \| 3.205 \| DISEASES 8792 \| TNFRSF11A \| 1.128 \| DISEASES 7133 \| TNFRSF1B \| 1.324 \| DISEASES 8718 \| TNFRSF25 \| 2.142 \| DISEASES 7293 \| TNFRSF4 \| 1.242 \| DISEASES 3604 \| TNFRSF9 \| 1.452 \| DISEASES 8741 \| TNFSF13 \| 1.019 \| DISEASES 10673 \| TNFSF13B \| 3.705 \| DISEASES 6434 \| TRA2B \| 1.01 \| DISEASES 51592 \| TRIM33 \| 2.152 \| DISEASES 25987 \| TSKU \| 1.198 \| DISEASES 9094 \| UNC119 \| 2.143 \| DISEASES 7409 \| VAV1 \| 2.475 \| DISEASES 7441 \| VPREB1 \| 3.391 \| DISEASES 7454 \| WAS \| 2.198 \| DISEASES 331 \| XIAP \| 1.925 \| DISEASES
Locus	(Waiting for update.)

Disease ID	602
Disease	agammaglobulinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0005681 \| Juvenile idiopathic arthritis \| 2 HP:0001369 \| Arthritis \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0002090 \| Pneumonia \| 1 HP:0000999 \| Pyoderma \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0002383 \| Encephalitis \| 1 HP:0001332 \| Dystonia \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0001917 \| Renal amyloidosis \| 1 HP:0005764 \| Polyarticular arthritis \| 1

Disease ID	602
Disease	agammaglobulinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:23) C2697310 \| sarcoidosis C2364133 \| infection C1963165 \| malabsorption C1611280 \| allergy C0877266 \| upper respiratory tract inflammation C0497156 \| lymphadenopathy C0276430 \| enteroviral meningitis C0238051 \| cerebral vasculitis C0162323 \| polyarthritis C0042216 \| vaccinia C0032371 \| polio C0032285 \| pneumonia C0025309 \| meningoencephalitis C0024299 \| lymphoma C0024115 \| pneumopathy C0021831 \| enteropathy C0014038 \| encephalitis C0013533 \| echovirus infections C0010246 \| coxsackievirus infection C0009782 \| connective tissue diseases C0004610 \| bacteremia C0003864 \| arthritis C0000809 \| recurrent abortions
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0003864 \| arthritis \| 2 C0032285 \| pneumonia \| 1 C0014038 \| encephalitis \| 1 C0009450 \| infection \| 1 C0162323 \| polyarthritis \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
BTK	Nullizygous del exon	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	602
Disease	agammaglobulinemia
Case	(Waiting for update.)

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