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#LINK
#lang en
#attribution_name Sujatha_Mohan
#file_name RAPID_complete
#download_from http://linkdata.org/work/rdf1s103i
#namespace BioLOD http://scinets.org/item/
#namespace Ensembl http://www.ensembl.org/Homo_sapiens/geneview?gene=
#namespace EntrezGene http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=full_report&list_uids=
#namespace GeneLocus http://www.ncbi.nlm.nih.gov/mapview/map_search.cgi?direct=on&idtype=gene&id=
#namespace HGNC http://www.genenames.org/data/hgnc_data.php?hgnc_id=
#namespace HP http://www.human-phenotype-ontology.org/hpoweb/showterm?id=
#namespace HPRD http://www.hprd.org/protein/
#namespace IDR http://bioinf.uta.fi/xml/idr/factfiles.xml#
#namespace NetPath http://netpath.org/molecule?molecule_id=
#namespace OMIM http://www.ncbi.nlm.nih.gov/omim/
#namespace PDB http://www.rcsb.org/pdb/explore/explore.do?structureId=
#namespace RAPID http://rapid.rcai.riken.jp/RAPID/diseasePhenotype?pid_id=
#namespace Reactome http://www.reactome.org/cgi-bin/link?SOURCE=Entrez+Gene&ID=
#namespace RefDIC http://refdic.rcai.riken.jp/profile.cgi?qtype_affy=geneID&method=viewprf&dataset_affy=HG_U133_Plus_2&prf=affy&query_list_affy=
#namespace SO http://www.sequenceontology.org/browser/current_cvs/term/SO:
#namespace SwissProt http://beta.uniprot.org/uniprot/
#namespace mRNA http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=nucleotide&cmd=search&term=
#property http://www.w3.org/2000/01/rdf-schema#label mRNA IDs Protein Name Synonyms PID_name PID_alternate_name Phenotype_OMIM Associated_features Category HP IDR HPRD OMIM Entrez Gene NetPath Reactome PDB Ensembl HGNC Swiss-Prot BioLOD RefDIC Gene Locus Gene Type
#object_type_xsd string:en string string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en string:en
#property_context Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion Assertion
RAPID:AGID_1 ADA mRNA:NM_000022.2 Adenosine deaminase - Adenosine deaminase deficiency Adenosine aminohydrolase, Severe combined immunodeficiency due to adenosine deaminase deficiency | SCID Due to ADA deficiency | ADA-SCID OMIM:102700 Failure to thrive | Sinusitis | Asthma | Pneumonia | Hepatomegaly | Splenomegaly | Diarrhea | Diffuse mesangial sclerosis | Platyspondyly | Pelvic dysplasia | Autoimmune hemolytic anemia | Idiopathic thrombocytopenia | Eosinophilia | Frequent fungal, viral, and opportunistic infections | Lymphopenia | Absent B cells | Absent T cells | Absent or reduced CD3+ cells | Absent or small dysplastic thymus | Absent specific antibody response | B-cell lymphoma | Reduced erythrocyte adenosine deaminase activity | Increased IgE levels | Low or absent IgA levels | Low or absent IgM levels | Absent IgG2 subclass | CD4+/CD8+ ratio often reversed | Elevated serum levels of adenosine | Elevated serum levels of 2-prime deoxyadenosine | Recurrent bacterial, viral, and fungal infections | decreased natural killer cells | costochondral junction flaring | hearing impairment Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 | HP:HP_0001442 IDR:10 HPRD:00038 OMIM:608958 EntrezGene:100 NetPath:NetPath_M100 Reactome:100 PDB:1M7M Ensembl:ENSG00000196839 HGNC:186 SwissProt:P00813 BioLOD:cria271u1ria271u1i RefDIC:100 GeneLocus:100 SO:0000010
RAPID:AGID_2 AICDA mRNA:NM_020661.1 Activation-induced cytidine deaminase AID | ARP2 | CDA2 | HIGM2 Activation-induced cytidine deaminase deficiency AID deficiency | Immunodeficiency with hyper-IgM, type 2 | HIGM2 | HYPER-IgM SYNDROME 2 | Non-X-linked hyper-IgM syndrome | Autosomal recessive hyper-IgM immunodeficiency | Autosomal recessive hyper-IgM syndrome OMIM:605258 Recurrent upper and lower respiratory tract infections | Gastrointestinal infections | Low-absent IgG, IgA | Normal-elevated IgM | Impaired Ig class switch recombination (CSR) | Lymphadenopathy | Giant germinal centers in lymph nodes | Normal B-cell (CD19+) count | Defective generation of somatic hypermutations (SHM) | Recurrent bacterial infections | No opportunistic infections Predominantly antibody deficiencies HP:HP_0000007 IDR:17 HPRD:05585 OMIM:605257 EntrezGene:57379 NetPath:NetPath_M57379 Reactome:57379 Ensembl:ENSG00000111732 HGNC:13203 SwissProt:Q9GZX7 BioLOD:cria271u1ria271u2i RefDIC:57379 GeneLocus:57379 SO:0000010
RAPID:AGID_3 AIRE mRNA:NM_000383.2 | mRNA:NM_000658.1 Autoimmune regulator AIRE1 | APECED | APS1 | APSI | PGA1 Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy Autoimmune polyendocrine syndrome, type I | APS1 | Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | APECED | Autoimmune polyglandular syndrome, type I | Polyglandular autoimmune syndrome, type I | PGA I | Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis | Polyglandular deficiency syndrome, persian-jewish type | Autoimmune polyendocrinopathy syndrome, type I, autosomal dominant | Autoimmune regulator | APS I OMIM:240300 Keratopathy | Keratoconjunctivitis | Hypoplastic dental enamel | autoimmune hepatitis | Cholelithiasis | Asplenia | Malabsorption | Diarrhea | Chronic atrophic gastritis | Hypogonadism | Vitiligo | Ectodermal dystrophy | Alopecia | Adrenal insufficiency | Hypoparathyroidism | Hypogonadism | Diabetes mellitus | Hypoaldosteronism, transient, isolated | Pituitary defects | Pernicious anemia | Chronic mucocutaneous candidiasis | Multiple autoantibodies Diseases of Immune Dysregulation HP:HP_0000007 IDR:72 HPRD:06301 OMIM:607358 EntrezGene:326 Reactome:326 PDB:1XWH Ensembl:ENSG00000160224 HGNC:360 SwissProt:O43918 BioLOD:cria271u1ria271u3i RefDIC:326 GeneLocus:326 SO:0000010
RAPID:AGID_4 AP3B1 mRNA:NM_003664.3 Adaptor-related protein complex 3, beta 1 subunit ADTB3 | ADTB3A | HPS | HPS2 | PE Hermansky-Pudlak syndrome 2 HPS2 OMIM:608233 Microcephaly | Coarse facial features | Protruding midface | Long, flat philtrum | Low-set ears | Posteriorly rotated ears | Ocular albinism, tyrosinase-positive | Upslanting palpebral fissures | Nystagmus | Strabismus | Impaired vision | Photophobia | Broad nasal root | Thin upper lip | Dental decay due to recurrent bacterial periodontitis | Pulmonary fibrosis due to recurrent infections | Hepatomegaly | Splenomegaly | Hip dysplasia | Acetabular dysplasia | Fair skin | Cutaneous albinism, tyrosinase-positive | Aberrant melanosome maturation | Fair hair | Mental retardation, mild | Motor retardation, mild | Thrombocytopenia | Absence of platelet dense bodies | Neutropenia | Neutrophils show disorganized lysosomal compartments | Recurrent bacterial infections | Decreased numbers of natural killer cells (NK) Diseases of Immune Dysregulation HP:HP_0000007 IDR:108 HPRD:04551 OMIM:603401 EntrezGene:8546 Reactome:8546 Ensembl:ENSG00000132842 HGNC:566 SwissProt:O00203 BioLOD:cria271u1ria271u4i RefDIC:8546 GeneLocus:8546 SO:0000010
RAPID:AGID_5 ATM mRNA:NM_000051.3 | mRNA:NM_138292.3 Ataxia telangiectasia mutated AT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1 Ataxia-telengiectasia AT | AT1 | Louis-Bar syndrome | Ataxia-telangiectasia (A-T) mutated OMIM:208900 Short stature | Sinusitis | Conjunctival telangiectasia | Fixation of gaze nystagmus | Strabismus | Bronchitis | Bronchiectasis | Hypogonadism | Impaired spermatogenesis | Telangiectases | Cafe-au-lait spots | Progeric skin changes | Sclerodermatous skin changes | Progeric hair changes | Cerebellar cortical degeneration | Cerebellar ataxia | Weak or absent deep tendon reflexes | Dysarthric speech | Choreoathetosis | Seizures | Oculomotor abnormalities | Delayed puberty | Diabetes mellitus | Glucose intolerance | Thymus hypoplasia | Normal numbers of B cells | Defective B cell differentiation | lymphopenia | Reduced numbers of T cells | Reduced CD4+ T cells | Increased levels of T cells bearing gamma/delta antigen receptor | Reduced levels of cells with IgM receptors | Non-Hodgkin lymphoma | Leukemia | Hodgkin's lymphoma | Increased risk in heterozygotes | Elevated alpha-fetoprotein | Increased levels of carcinoembryonic antigen | Reduced iga levels | Reduced IgE levels | Reduced IgG levels, particularly the IgG2 subclass | Monomeric IgM | Immunoglobulin antibodies present | CD4+/CD8+ ratio is reversed | Hypersensitivity to ionizing radiation | Oculomotor apraxia | Chromosomal instability | Absent thymic shadow on X-ray | Ovarian dysgenesis Other Well-defined Immunodeficiency Syndromes HP:HP_0000007 IDR:87 HPRD:06347 OMIM:607585 EntrezGene:472 NetPath:NetPath_M472 Reactome:472 Ensembl:ENSG00000149311 HGNC:795 SwissProt:Q13315 BioLOD:cria271u1ria271u5i RefDIC:472 GeneLocus:472 SO:0000010
RAPID:AGID_6 BLM mRNA:NM_000057.2 Bloom syndrome BS | MGC126616 | MGC131618 | MGC131620 | RECQ2 | RECQL2 | RECQL3 Bloom syndrome BS | BLS | Bloom-Torre-Machacek Syndrome | Bloom-Torre-Machacek Syndrome | Congenital Telangiectatic Erythema OMIM:210900 Prenatal growth deficiency | Growth failure | Dolichocephaly | Microcephaly | Narrow face | Malar hypoplasia | Prominent ears | Prominent nose | Absent upper lateral incisors | Bronchiectasis | Chronic lung disease | Azoospermia | Cryptorchidism | Decreased fertility in females | Syndactyly | Polydactyly | Clinodactyly of the 5th finger | Facial telangiectasia in butterfly midface distribution | Spotty hypopigmentation | Spotty hyperpigmentation | Cafe-au-lait spots | Hypertrichosis | Photosensitivity | Mental retardation, mild | Learning disability | High pitched voice | Noninsulin-dependent diabetes mellitus | Reduced immunoglobulin levels | Impaired lymphocyte proliferation response to malignancy | Leukemia | Lymphoma | Adenocarcinoma | Squamous cell carcinoma | Hypersensitivity to chemotherapy | High sister chromatid exchange (SCE) rate | Tendency to chromosomal breakage | Decreased IgA, IgG, IgM | Life-threatening infections | Predisposition to neoplasia Other Well-defined Immunodeficiency Syndromes HP:HP_0000007 IDR:89 HPRD:05211 OMIM:604610 EntrezGene:641 NetPath:NetPath_M641 Reactome:641 Ensembl:ENSG00000197299 HGNC:1058 SwissProt:P54132 BioLOD:cria271u1ria271u6i RefDIC:641 GeneLocus:641 SO:0000010
RAPID:AGID_7 BLNK mRNA:NM_013314.2 B-cell linker BASH | BLNK-s | Ly57 | MGC111051 | SLP-65 | SLP65 BLNK deficiency Hypoglobulinemia and absent B cells | Agammaglobulinemia 4, Autosomal recessive | AGM4 | Agammaglobulinemia, autosomal recessive, due to BLNK defect OMIM:613502 Recurrent otitis media | PNEUMONIA, RECURRENT EPISODES Predominantly antibody deficiencies HP:HP_0000007 IDR:24 HPRD:05153 OMIM:604515 EntrezGene:29760 Reactome:29760 Ensembl:ENSG00000095585 HGNC:14211 SwissProt:Q8WV28 BioLOD:cria271u1ria271u7i RefDIC:29760 GeneLocus:29760 SO:0000010
RAPID:AGID_8 BTK mRNA:NM_000061.1 Bruton agammaglobulinemia tyrosine kinase AGMX1 | AT | ATK | BPK | IMD1 | MGC126261 | MGC126262 | PSCTK1 | XLA X-linked agammaglobulinemia XLA | Bruton type agammaglobulinemia | X-linked hypogammaglobulinemia | Agammaglobulinemia, type 1, X-linked | AGMX1 | HYPOGAMMAGLOBULINEMIA, X-LINKED | IMMUNODEFICIENCY 1 | IMD1 OMIM:300755 Otitis media | Hearing loss | Conjunctivitis | Sinusitis | Rudimentary adenoids | Rudimentary tonsils | Pneumonia | Hypoxemia and cor pulmonale | Enteroviral hepatitis | Diarrhea | Epididymitis | Prostatitis | Urinary tract infections | Septic arthritis | Pyoderma | Enteroviral dermatomyositis syndrome | Meningitis | Encephalitis | Delayed speech acquisition | recurrent bacterial infections | severe enteroviral infections | small lymph nodes | absent B-lymphocytes in all organs | absent plasma cells in all organs | increased incidence of rectosigmoid cancer | absent or severely reduced levels of serum immunoglobulins | susceptibility to infections start in the first year of life Predominantly antibody deficiencies HP:HP_0001419 IDR:22 HPRD:02248 OMIM:300300 EntrezGene:695 NetPath:NetPath_M695 Reactome:695 PDB:1AWW | PDB:1AWX | PDB:1B55 | PDB:1BTK | PDB:1BWN | PDB:1K2P | PDB:1QLY | PDB:2GE9 Ensembl:ENSG00000010671 HGNC:1133 SwissProt:Q06187 BioLOD:cria271u1ria271u8i RefDIC:695 GeneLocus:695 SO:0000010
RAPID:AGID_8 BTK mRNA:NM_000061.1 Bruton agammaglobulinemia tyrosine kinase AGMX1 | AT | ATK | BPK | IMD1 | MGC126261 | MGC126262 | PSCTK1 | XLA X-LINKED AGAMMAGLOBULINEMIA AND ISOLATED GROWTH HORMONE DEFICIENCY XLH/GHD OMIM:307200 Short stature | hearing loss | enteroviral hepatitis | sinusitis recurrent otitis media | diarrhea | epididymitis | rhinitis | prostatitis | conjunctivitis | delayed skeletal maturation | panhypogammaglobulinemia | bronchiectasis | recurrent sinopulmonary infections | pneumonia | fever | septic arthritis | inflammatory myofibroblastic tumor | rash | Campylobacter jejuni infection | absent B cells | absent or severely reduced levels of serum immunoglobulins | delayed puberty | deficient growth hormone response to insulin, arginine, or levodopa | recurrent bacterial infections | severe enteroviral infections | small lymph nodes | absent B-lymphocytes in all organs | absent plasma cells in all organs | increased incidence of rectosigmoid cancer | susceptibility to infections start in the first year of life Predominantly antibody deficiencies HP:HP_0001419 IDR:22 HPRD:02248 OMIM:300300 EntrezGene:695 NetPath:NetPath_M695 Reactome:695 PDB:1AWW | PDB:1AWX | PDB:1B55 | PDB:1BTK | PDB:1BWN | PDB:1K2P | PDB:1QLY | PDB:2GE9 Ensembl:ENSG00000010671 HGNC:1133 SwissProt:Q06187 BioLOD:cria271u1ria271u8i RefDIC:695 GeneLocus:695 SO:0000010
RAPID:AGID_9 C1QA mRNA:NM_015991.2 Complement component 1, q subcomponent, a chain - C1qA deficiency C1q deficiency, type A | C1q α-polypeptide deficiency OMIM:613652 Recurrent infections | Systemic lupus erythematosus | loss of activation of the complement classical pathway Complement Deficiencies HP:HP_0000007 IDR:48 HPRD:00393 OMIM:120550 EntrezGene:712 Reactome:712 PDB:1PK6 Ensembl:ENSG00000173372 HGNC:1241 SwissProt:P02745 BioLOD:cria271u1ria271u9i RefDIC:712 GeneLocus:712 SO:0000010
RAPID:AGID_10 C1QB mRNA:NM_000491.3 Complement component 1, q subcomponent, b chain - C1qB deficiency C1q deficiency, type B | C1q β-polypeptide deficiency OMIM:613652 Recurrent infections | Systemic lupus erythematosus-like symptoms | loss of activation of the complement classical pathway Complement Deficiencies HP:HP_0000007 IDR:49 HPRD:00394 OMIM:120570 EntrezGene:713 NetPath:NetPath_M713 Reactome:713 PDB:1PK6 Ensembl:ENSG00000173369 HGNC:1242 SwissProt:P02746 BioLOD:cria271u1ria271u10i RefDIC:713 GeneLocus:713 SO:0000010
RAPID:AGID_11 C1QC mRNA:NM_172369.2 Complement component 1, q subcomponent, c chain C1QG | C1q-C | FLJ27103 C1qG deficiency C1q γ-polypeptide deficiency OMIM:613652 Recurrent infections | Systemic lupus erythematosus-like symptoms | loss of activation of the complement classical pathway Complement Deficiencies HP:HP_0000007 IDR:50 HPRD:00395 OMIM:120575 EntrezGene:714 Reactome:714 PDB:1PK6 Ensembl:ENSG00000159189 HGNC:1245 SwissProt:P02747 BioLOD:cria271u1ria271u11i RefDIC:714 GeneLocus:714 SO:0000010
RAPID:AGID_12 C1R mRNA:XM_001124624.1 | mRNA:NM_001733.4 Complement component 1, r subcomponent - C1r deficiency Complement component C1r deficiency OMIM:216950 Systemic lupus erythematosus | bacterial infections | Glomerulonephritis Complement Deficiencies HP:HP_0000007 IDR:51 HPRD:01954 OMIM:216950 EntrezGene:715 NetPath:NetPath_M715 Reactome:715 PDB:1APQ | PDB:1GPZ | PDB:1MD7 | PDB:1MD8 Ensembl:ENSG00000159403 HGNC:1246 SwissProt:P00736 BioLOD:cria271u1ria271u12i RefDIC:715 GeneLocus:715 SO:0000010
RAPID:AGID_13 C1S mRNA:NM_001734.2 | mRNA:NM_201442.1 Complement component 1, s subcomponent - C1s deficiency Complement component C1s deficiency | C1SD OMIM:613783 Systemic lupus erythematosus | bacterial infections | Glomerulonephritis Complement Deficiencies HP:HP_0000007 IDR:52 HPRD:00397 OMIM:120580 EntrezGene:716 NetPath:NetPath_M716 Reactome:716 PDB:1ELV | PDB:1NZI Ensembl:ENSG00000182326 HGNC:1247 SwissProt:P09871 BioLOD:cria271u1ria271u13i RefDIC:716 GeneLocus:716 SO:0000010
RAPID:AGID_14 C2 mRNA:NM_000063.3 Complement component 2 CO2 | DKFZp779M0311 C2 deficiency Complement component 2 deficiency OMIM:217000 Systemic lupus erythematosus-like symptoms | glomerulonephritis | vasculitis | pyogenic infections | Autoimmune disease | Systemic lupus erythematosus | Polymyositis | Henoch-Schonlein purpural | Complete loss of C2 protein | selective block in C2 secretion Complement Deficiencies HP:HP_0000007 IDR:90 HPRD:08939 OMIM:217000 EntrezGene:717 NetPath:NetPath_M717 Reactome:717 PDB:2I6S Ensembl:ENSG00000204364 HGNC:1248 SwissProt:P06681 BioLOD:cria271u1ria271u14i RefDIC:717 GeneLocus:717 SO:0000010
RAPID:AGID_15 C3 mRNA:NM_000064.2 Complement component 3 ARMD9 | ASP | CPAMD1 C3 deficiency Complement component 3 deficiency, autosomal recessive | C3 DEFICIENCY, AUTOSOMAL RECESSIVE | C3D OMIM:613779 severe recurrent infections | immune-complex disorders | Membranoproliferative glomerulonephritis | Systemic lupus erythematosus | Meningitis | osteomyelitis | sepsis | pneumonia | C3 deficiency | Susceptibility to pyogenic infection | Partial lipodystrophy (face, arms and upper torso) | Erythema multiforme-like rash of face, forearms, and hands | C3 nephritic factor, IgG antibody against complement components | microscopic hematuria Complement Deficiencies HP:HP_0000007 IDR:61 HPRD:00400 OMIM:120700 EntrezGene:718 NetPath:NetPath_M718 Reactome:718 PDB:1C3D | PDB:1GHQ | PDB:1W2S | PDB:2A73 | PDB:2A74 | PDB:2GOX | PDB:2HR0 | PDB:2I07 | PDB:2ICE | PDB:2ICF | PDB:2NOJ | PDB:2QKI Ensembl:ENSG00000125730 HGNC:1318 SwissProt:P01024 BioLOD:cria271u1ria271u15i RefDIC:718 GeneLocus:718 SO:0000010
RAPID:AGID_15 C3 mRNA:NM_000064.2 Complement component 3 ARMD9 | ASP | CPAMD1 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 AHUS5 | AHUS, SUSCEPTIBILITY TO, 5 OMIM:612925 Severe hypertension | proteinuria | uremia | Lethargy | fatigue | irritability | Thrombocytopenia | Hemolytic anemia | Reduced urination | General unwell feeling Complement Deficiencies HP:HP_0000007 IDR:61 HPRD:00400 OMIM:120700 EntrezGene:718 NetPath:NetPath_M718 Reactome:718 PDB:1C3D | PDB:1GHQ | PDB:1W2S | PDB:2A73 | PDB:2A74 | PDB:2GOX | PDB:2HR0 | PDB:2I07 | PDB:2ICE | PDB:2ICF | PDB:2NOJ | PDB:2QKI Ensembl:ENSG00000125730 HGNC:1318 SwissProt:P01024 BioLOD:cria271u1ria271u15i RefDIC:718 GeneLocus:718 SO:0000010
RAPID:AGID_16 C4A mRNA:NM_007293.2 Complement component 4a (rodgers blood group) C4 | C4A2 | C4A3 | C4A4 | C4A6 | C4S | CO4 | CPAMD2 | MGC164979 | RG C4A deficiency Complement component 4A deficiency OMIM:120810 Glomerulonephritis | Photosensitivity | Systemic lupus erythematosus | Dermatomyositis | Anaphylactoid purpura | Vasculitis | Absent CH50 activity in complete C4 deficiency Complement Deficiencies HP:HP_0000007 IDR:53 HPRD:00401 OMIM:120810 EntrezGene:720 Reactome:720 PDB:1HZF Ensembl:ENSG00000204319 HGNC:1323 SwissProt:P0C0L4 BioLOD:cria271u1ria271u16i RefDIC:720 GeneLocus:720 SO:0000010
RAPID:AGID_17 C4B mRNA:NM_001002029.2 Complement component 4b (childo blood group) C4A | C4A13 | C4A91 | C4B1 | C4B12 | C4B2 | C4B3 | C4B5 | C4F | CH | CO4 | CPAMD3 | MGC164979 C4B deficiency Complement component 4B deficiency - Systemic lupus erythematosus | Glomerulonephritis | Raynaud's phenomenon | vasculitic ulcers Complement Deficiencies HP:HP_0000007 IDR:54 HPRD:00402 OMIM:120820 EntrezGene:721 NetPath:NetPath_M721 Reactome:721 Ensembl:ENSG00000204342 HGNC:1324 SwissProt:P0C0L5 BioLOD:cria271u1ria271u17i RefDIC:721 GeneLocus:721 SO:0000010
RAPID:AGID_18 C5 mRNA:NM_001735.2 Complement component 5 CPAMD4 | MGC142298 C5 deficiency Complement component 5 deficiency OMIM:609536 decreased total hemolytic complement activity | increased susceptibility to neisserial infections | Recurrent meningococcal infections | systemic gonococcal infections | lack serum bactericidal activity Complement Deficiencies HP:HP_0000007 IDR:91 HPRD:00405 OMIM:120900 EntrezGene:727 NetPath:NetPath_M727 Reactome:727 PDB:1CFA | PDB:1KJS | PDB:1XWE Ensembl:ENSG00000106804 HGNC:1331 SwissProt:P01031 BioLOD:cria271u1ria271u18i RefDIC:727 GeneLocus:727 SO:0000010
RAPID:AGID_19 C6 mRNA:NM_000065.1 Complement component 6 - C6 deficiency Complement component 6 deficiency OMIM:612446 undetectable levels of C6 | lack serum bactericidal activity | systemic blood-born meningococcal infections | Disseminated gonococcal infections | Systemic lupus erythematosus Complement Deficiencies HP:HP_0000007 IDR:92 HPRD:01956 OMIM:217050 EntrezGene:729 NetPath:NetPath_M729 Reactome:729 Ensembl:ENSG00000039537 HGNC:1339 SwissProt:P13671 BioLOD:cria271u1ria271u19i RefDIC:729 GeneLocus:729 SO:0000010
RAPID:AGID_20 C7 mRNA:NM_000587.2 Complement component 7 - C7 deficiency Complement component 7 deficiency OMIM:610102 decreased serum bactericidal activity | increased susceptibility to neisserial infections | Systemic neisserial infections | Systemic lupus erythematosus | rheumatoid arthritis | pyoderma gangrenosum | scleroderma Complement Deficiencies HP:HP_0000007 IDR:93 HPRD:01957 OMIM:217070 EntrezGene:730 NetPath:NetPath_M730 Reactome:730 Ensembl:ENSG00000112936 HGNC:1346 SwissProt:P10643 BioLOD:cria271u1ria271u20i RefDIC:730 GeneLocus:730 SO:0000010
RAPID:AGID_21 C8A mRNA:NM_000562.1 Complement component 8, alpha polypeptide - C8A deficiency C8 α-polypeptide deficiency | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I | C8 DEFICIENCY, TYPE I | C8 ALPHA-GAMMA DEFICIENCY | C81 DEFICIENCY - Recurrent pyogenic infections | meningococcal meningitis | disseminated extragenital gonococcal infection | C8 deficiency | Episodes of neisserial infection | Systemic lupus erythematosus | Meningitis | No C8 antigen detected | membrane attack complex deficiency Complement Deficiencies HP:HP_0000006 IDR:55 HPRD:00409 OMIM:120950 EntrezGene:731 Reactome:731 Ensembl:ENSG00000157131 HGNC:1352 SwissProt:P07357 BioLOD:cria271u1ria271u21i RefDIC:731 GeneLocus:731 SO:0000010
RAPID:AGID_22 C8B mRNA:NM_000066.2 Complement component 8, beta polypeptide MGC163447 C8B deficiency C8 β-polypeptide deficiency | C8 deficiency, type II | C8 beta deficiency | Complement component 8, beta subunit deficiency - Decreased serum bactericidal activity | recurrent pyogenic infections | meningococcal meningitis | disseminated extragenital gonococcal infection | Antigenically defective C8 detected | Recurrent neisserial infections | Meningitis | membrane attack complex deficiency Complement Deficiencies HP:HP_0000006 IDR:56 HPRD:00410 OMIM:120960 EntrezGene:732 Reactome:732 Ensembl:ENSG00000021852 HGNC:1353 SwissProt:P07358 BioLOD:cria271u1ria271u22i RefDIC:732 GeneLocus:732 SO:0000010
RAPID:AGID_23 C8G mRNA:NM_000606.1 Complement component 8, gamma polypeptide C8C | MGC142186 C8G deficiency C8 γ-polypeptide deficiency | C8C deficiency - Loss of total hemolytic complement activity | membrane attack complex deficiency | decreased serum bactericidal activity | recurrent pyogenic infections | meningococcal meningitis | disseminated extragenital gonococcal infection Complement Deficiencies HP:HP_0000007 IDR:57 HPRD:00407 OMIM:120930 EntrezGene:733 Reactome:733 PDB:1IW2 | PDB:1LF7 | PDB:2OVA | PDB:2OVD | PDB:2OVE Ensembl:ENSG00000176919 HGNC:1354 SwissProt:P07360 BioLOD:cria271u1ria271u23i RefDIC:733 GeneLocus:733 SO:0000010
RAPID:AGID_24 C9 mRNA:NM_001737.2 Complement component 9 - C9 deficiency Complement component 9 deficiency | C9 DEFICIENCY WITH DERMATOMYOSITIS | C9D OMIM:613825 systemic meningococcal infections | ability to kill Neisseria at a slower rate Complement Deficiencies HP:HP_0000007 IDR:94 HPRD:00408 OMIM:120940 EntrezGene:735 Reactome:735 Ensembl:ENSG00000113600 HGNC:1358 SwissProt:P02748 BioLOD:cria271u1ria271u24i RefDIC:735 GeneLocus:735 SO:0000010
RAPID:AGID_25 NOD2 mRNA:NM_022162.1 Nucleotide-binding oligomerization domain containing 2 ACUG | BLAU | CARD15 | CD | CLR16.3 | IBD1 | NLRC2 | NOD2B | PSORAS1 Blau syndrome BS, ACUG | Blau syndrome | Granulomatosis, familial juvenile systemic | Arthrocutaneouveal granulomatosis | Jabs syndrome | Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial | Granulomatosis, familial, Blau type | Jabs houk bias syndrome | Granulomatous synovitis with uveitis and cranial neuropathies OMIM:186580 Uveitis | Iritis | multifocal choroiditis | cataract | glaucoma | band keratopathy | cystoid macular edema | optic disc edema | granulomatous synovitis | granulomatous arthritis | synovial cysts | joint swelling | joint contractures | tendinitis | camptodactyly (hands) | flexion contractures of the toes | granulomatous dermatitis | intermittent generalized erythematous papular rash | skin ulceration | ankylosing spondylitis Autoinflammatory Disorders HP:HP_0000006 IDR:145 | IDR:146 HPRD:05810 OMIM:605956 EntrezGene:64127 Reactome:64127 Ensembl:ENSG00000167207 HGNC:5331 SwissProt:Q9HC29 BioLOD:cria271u1ria271u25i RefDIC:64127 GeneLocus:64127 SO:0000010
RAPID:AGID_25 NOD2 mRNA:NM_022162.1 Nucleotide-binding oligomerization domain containing 2 ACUG | BLAU | CARD15 | CD | CLR16.3 | IBD1 | NLRC2 | NOD2B | PSORAS1 Crohn's disease INFLAMMATORY BOWEL DISEASE 1 | IBD1 | IBD1, CD OMIM:266600 Weight loss | recurrent aphthous stomatitis | abdominal pain | diarrhea | intestinal obstruction | esophageal stricture | gastrointestinal fistula | transmural granulomatous inflammation with 'skip lesions' | ulcerative colitis Autoinflammatory Disorders HP:HP_0001426 IDR:145 | IDR:146 HPRD:05810 OMIM:605956 EntrezGene:64127 Reactome:64127 Ensembl:ENSG00000167207 HGNC:5331 SwissProt:Q9HC29 BioLOD:cria271u1ria271u25i RefDIC:64127 GeneLocus:64127 SO:0000010
RAPID:AGID_26 CASP10 mRNA:NM_001230.4 | mRNA:NM_032974.3 | mRNA:NM_032977.3 Caspase 10, apoptosis-related cysteine peptidase ALPS2 | FLICE2 | MCH4 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA ALPS2A | Caspase 10 deficiency | CASP10-Related Autoimmune Lymphoproliferative Syndrome | Autoimmune Lymphoproliferative Syndrome, Type II OMIM:603909 Hepatomegaly | Splenomegaly | Nephrotic syndrome | Nephritis | Membranous glomerulonephropathy | Urticaria | Vasculitis rash | Malar rash | Autoimmune hemolytic anemia | Iron deficiency anemia | Immune thrombocytopenia | Autoimmune neutropenia | Eosinophilia | Defective lymphocyte apoptosis | Chronic noninfectious lymphadenopathy | Increased number of peripheral CD3+ T cells | Increased number of B cells | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors | Increased proportion of HLA DR+ and CD57+ T cells | Reduced delayed hypersensitivity | Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells | Increased levels of IgG | Increased IgA levels | Increased levels of IgM | Direct Coombs positive | Platelet antibody positive | Neutrophil antibody positive | Phospholipid antibody positive | Smooth muscle antibody positive | Rheumatoid factor positive | Antinuclear antibody positive | Anti-ribonuclear protein positive | Anti-SSB positive | Anti-factor VIII positive Diseases of Immune Dysregulation HP:HP_0000006 IDR:109 HPRD:03458 OMIM:601762 EntrezGene:843 NetPath:NetPath_M843 Reactome:843 Ensembl:ENSG00000003400 HGNC:1500 SwissProt:Q92851 BioLOD:cria271u1ria271u26i RefDIC:843 GeneLocus:843 SO:0000010
RAPID:AGID_27 CASP8 mRNA:NM_001228.4 | mRNA:NM_033355.3 | mRNA:NM_033356.3 | mRNA:NM_033358.3 Caspase 8, apoptosis-related cysteine peptidase ALPS2B | CAP4 | FLICE | MACH | MCH5 | MGC78473 Caspase 8 deficiency CASP8D | Autoimmune lymphoproliferative syndrome, type IIB | ALPS2B OMIM:607271 Short stature | Failure to thrive | Reactive airway disease | Asthma | Pneumonia | Splenomegaly | Chronic diarrhea | Eczema | Lymphadenopathy | Recurrent sinopulmonary infections | mucocutaneous herpes simplex virus infection | Defective CD95-induced apoptosis of peripheral blood lymphocytes | No response to pneumococcal vaccination | Decreased T cell activation | Defective B cell activation | Defective natural killer cell activation | Decreased cellular caspase-8 levels Diseases of Immune Dysregulation HP:HP_0000007 IDR:110 HPRD:03459 OMIM:601763 EntrezGene:841 Reactome:841 PDB:1F9E | PDB:1I4E | PDB:1QDU | PDB:1QTN | PDB:2C2Z | PDB:2FUN Ensembl:ENSG00000064012 HGNC:1509 SwissProt:Q14790 BioLOD:cria271u1ria271u27i RefDIC:841 GeneLocus:841 SO:0000010
RAPID:AGID_28 CD19 mRNA:NM_001770.4 Cd19 molecule B4 | MGC12802 CD19 deficiency CD19D | Antibody deficiency due to defect in CD19 | Common variable deficiency, 3 | CVID3 OMIM:613493 Increased susceptibility to infection | Panhypogammaglobulinemia | Small to normal size lymphoid secondary follicles | CD19 decreased to absent | CD21 decreased | Normal numbers of mature B cells | decreased CD5+ B cells | decreased CD27+ memory B cells | sinusitis | otitis | bronchitis | lack of antibody production in response to vaccination Predominantly antibody deficiencies HP:HP_0000007 IDR:150 HPRD:00113 OMIM:107265 EntrezGene:930 NetPath:NetPath_M930 Reactome:930 Ensembl:ENSG00000177455 HGNC:1633 SwissProt:P15391 BioLOD:cria271u1ria271u28i RefDIC:930 GeneLocus:930 SO:0000010
RAPID:AGID_29 CD247 mRNA:NM_000734.2 | mRNA:NM_198053.1 Cd247 molecule CD3-ZETA | CD3H | CD3Q | CD3Z | TCRZ CD3Zeta deficiency Immunodeficiency due to defect in CD3-zeta OMIM:610163 Erythroderma | protracted diarrhea | pulmonary abscesses | recurrent episodes of herpes simplex virus infection | episodes of oral infections with Candida albicans | episodes of skin infections with Candida albicans | Recurrent pneumonia | reduced number of circulating T cells | normal number of B cells | normal number of NK cells | absent gamma/delta T cells Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:149 HPRD:01729 OMIM:186780 EntrezGene:919 Reactome:919 PDB:1TCE | PDB:1YGR | PDB:2HAC Ensembl:ENSG00000198821 HGNC:1677 SwissProt:P20963 BioLOD:cria271u1ria271u29i RefDIC:919 GeneLocus:919 SO:0000010
RAPID:AGID_30 CD3D mRNA:NM_000732.4 Cd3d molecule, delta (cd3-tcr complex) CD3-DELTA | T3D CD3 delta deficiency SCID with CD3D chain-deficiency | Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3D-Related OMIM:608971 absence of T cells | normal numbers of B cells | failure to thrive | intractable diarrhea | recurrent lung infection | early arrest in T cell development | absence of circulating mature T cells | absence of gamma/delta T cells | normal number of NK cells | absent gamma/delta T cells Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:111 HPRD:01730 OMIM:186790 EntrezGene:915 Reactome:915 PDB:1XIW Ensembl:ENSG00000167286 HGNC:1673 SwissProt:P04234 BioLOD:cria271u1ria271u30i RefDIC:915 GeneLocus:915 SO:0000010
RAPID:AGID_31 CD3E mRNA:NM_000733.2 Cd3e molecule, epsilon (cd3-tcr complex) T3E | TCRE CD3 epsilon deficiency CD3ε deficiency | IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON | CD3E deficiency | Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related OMIM:608971 Decreased lymphocyte membrane expression of TCR/CD3 | recurrent Hemophilus influenzae pneumonia | otitis media | Moderately severe immunodeficiency | reduced number of circulating T cells | normal number of B cells | normal number of NK cells | absent gamma/delta T cells Combined T-cell and B-cell immunodeficiencies HP:HP_0000006 IDR:20 HPRD:08923 OMIM:186830 EntrezGene:916 NetPath:NetPath_M916 Reactome:916 PDB:1A81 | PDB:1SY6 | PDB:1XIW Ensembl:ENSG00000198851 HGNC:1674 SwissProt:P07766 BioLOD:cria271u1ria271u31i RefDIC:916 GeneLocus:916 SO:0000010
RAPID:AGID_32 CD3G mRNA:NM_000073.1 Cd3g molecule, gamma (cd3-tcr complex) CD3-GAMMA | MGC138597 | T3G CD3 gamma deficiency CD3γ deficiency | IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA - T-cell receptor CD3 complex defect | Abnormality of T-cells | Impaired T cell function | recurrent bacterial infection | recurrent viral infection | mild immunodeficiencies | Defect in CD3-Gamma Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:21 HPRD:07037 OMIM:186740 EntrezGene:917 NetPath:NetPath_M917 Reactome:917 PDB:1SY6 Ensembl:ENSG00000160654 HGNC:1675 SwissProt:P09693 BioLOD:cria271u1ria271u32i RefDIC:917 GeneLocus:917 SO:0000010
RAPID:AGID_33 CD40 mRNA:NM_001250.4 | mRNA:NM_152854.2 Cd40 molecule, tnf receptor superfamily member 5 Bp50 | CDW40 | MGC9013 | TNFRSF5 | p50 CD40 deficiency Autosomal recessive hyper-IgM syndrome | Immunodeficiency with hyper-IgM, type 3 | Hyper-IgM syndrome type 3, HIGM3 | HYPER-IgM SYNDROME 3 OMIM:606843 Panhypogammaglobulinemia | Normal or increased IgM | Neutropenia | Serum IgA, IgG, and IgE severely deficient | Lymph nodes lack germinal centers | Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation | Increased susceptibility to bacterial and opportunistic infections, such as Pneumocystis carinii | thrombocytopenia | autoimmune disease | normal or poor T-cell function | Lymphoma | opportunistic pneumonias | Aplastic anemia | severe cholangitis | Hepatic failure | IgM+ and IgD+ B cells present Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:18 HPRD:00178 OMIM:109535 EntrezGene:958 NetPath:NetPath_M958 Reactome:958 PDB:1CDF | PDB:1CZZ | PDB:1D00 | PDB:1FLL | PDB:1LB6 Ensembl:ENSG00000101017 HGNC:11919 SwissProt:P25942 BioLOD:cria271u1ria271u33i RefDIC:958 GeneLocus:958 SO:0000010
RAPID:AGID_34 CD40LG mRNA:NM_000074.2 Cd40 ligand (tnf superfamily, member 5, hyper-igm syndrome) CD154 | CD40L | HIGM1 | IGM | IMD3 | T-BAM | TNFSF5 | TRAP | gp39 | hCD40L CD40 ligand deficiency X-linked Hyper-IgM syndrome | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 | HIGM1 | HYPER-IgM IMMUNODEFICIENCY, X-LINKED | XHIM | HYPER-IgM SYNDROME 1 | Hyper-IgM syndrome | HIGM | IHIS | Immunodeficiency 3 Dysgammaglobulinemia, type 1 | X-linked hyper-IgM type 1 OMIM:308230 Tonsillar hypertrophy | Gingivitis | Ulcerative stomatitis | Hepatomegaly | hepatitis | Splenomegaly | Diarrhea | Proctitis | Neutropenia, chronic or cyclic | Anemia | Hemolytic anemia | Thrombocytopenia | Immunodeficiency | Dysgammaglobulinemia | Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation | Lymph nodes lack germinal centers | Normal or increased IgM | Serum IgA, IgG, and IgE severely deficient | B-cell count normal | Decreased T cell activation | Recurrent bacterial infections | Pneumocytosis carinii infection | Pneumocytosis carinii infection | Opportunistic infections | cholangitis | higher risk of malignancy | IgM+ and IgD+ B cells present | hemolytic anemia Combined T-cell and B-cell immunodeficiencies | Predominantly antibody deficiencies HP:HP_0001419 IDR:16 HPRD:02311 OMIM:300386 EntrezGene:959 NetPath:NetPath_M959 Reactome:959 PDB:1ALY | PDB:1I9R Ensembl:ENSG00000102245 HGNC:11935 SwissProt:P29965 BioLOD:cria271u1ria271u34i RefDIC:959 GeneLocus:959 SO:0000010
RAPID:AGID_35 CD55 mRNA:NM_000574.2 Cd55 molecule, decay accelerating factor for complement (cromer blood group) CR | DAF | TC Decay-accelerating factor (CD55) deficiency CD55 deficiency | DAF deficiency - INAB PHENOTYPE | intravascular haemolysis | pancytopenia | Recurrent thrombophlebitis | Aplastic anemia | Acute myeloid leukemia | Iron deficiency anemia | Hemoglobinuria | PROGRESSIVE RENAL IMPAIRMENT | hepatic vein thrombosis Complement Deficiencies HP:HP_0000007 IDR:102 HPRD:00500 OMIM:125240 EntrezGene:1604 NetPath:NetPath_M1604 Reactome:1604 PDB:1H03 | PDB:1H04 | PDB:1H2P | PDB:1H2Q | PDB:1M11 | PDB:1NWV | PDB:1OJV | PDB:1OJW | PDB:1OJY | PDB:1OK1 | PDB:1OK2 | PDB:1OK3 | PDB:1OK9 | PDB:1UOT | PDB:1UPN | PDB:2C8I Ensembl:ENSG00000196352 HGNC:2665 SwissProt:P08174 BioLOD:cria271u1ria271u35i RefDIC:1604 GeneLocus:1604 SO:0000010
RAPID:AGID_36 CD59 mRNA:NM_000611.4 | mRNA:NM_203329.1 | mRNA:NM_203330.1 | mRNA:NM_203331.1 Cd59 molecule, complement regulatory protein 16.3A5 | EJ16 | EJ30 | EL32 | G344 | MGC2354 | MIC11 | MIN1 | MIN2 | MIN3 | MSK21 | PROTECTIN | p18-20 CD59 deficiency MAC inhibitor (CD59) deficiency OMIM:612300 recurrent hemolytic anemia | thrombosis | recurrent cerebral infarction | susceptible to complement-mediated lysis | loss of CD59 protein Complement Deficiencies HP:HP_0000007 IDR:103 HPRD:00117 OMIM:107271 EntrezGene:966 NetPath:NetPath_M966 Reactome:966 PDB:1CDQ | PDB:1CDR | PDB:1CDS | PDB:1ERG | PDB:1ERH | PDB:2J8B | PDB:2OFS | PDB:2UWR | PDB:2UX2 Ensembl:ENSG00000085063 HGNC:1689 SwissProt:P13987 BioLOD:cria271u1ria271u36i RefDIC:966 GeneLocus:966 SO:0000010
RAPID:AGID_37 CD79A mRNA:NM_001783.3 | mRNA:NM_021601.3 Cd79a molecule, immunoglobulin-associated alpha IGA | MB-1 Ig-alpha deficiency Igα deficiency | CD79A deficiency | IGA deficiency - Recurrent bacterial infections of lower respiratory tract | otitis media | profound hypogammaglobulinemia | lack of circulating mature B cells | recurrent diarrhea | Failure to thrive Predominantly antibody deficiencies HP:HP_0000007 IDR:25 HPRD:00203 OMIM:112205 EntrezGene:973 NetPath:NetPath_M973 Reactome:973 Ensembl:ENSG00000105369 HGNC:1698 SwissProt:P11912 BioLOD:cria271u1ria271u37i RefDIC:973 GeneLocus:973 SO:0000010
RAPID:AGID_38 CD79B mRNA:NM_000626.2 | mRNA:NM_001039933.1 | mRNA:NM_021602.2 Cd79b molecule, immunoglobulin-associated beta B29 | IGB Ig-beta deficiency Igβ deficiency | AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | AGAMMAGLOBULINEMIA 6 | AGM6 OMIM:612692 Early onset of infection | profound hypogammaglobulinemia | markedly reduced B cells Predominantly antibody deficiencies HP:HP_0000007 IDR:159 HPRD:00922 OMIM:147245 EntrezGene:974 NetPath:NetPath_M974 Reactome:974 Ensembl:ENSG00000007312 HGNC:1699 SwissProt:P40259 BioLOD:cria271u1ria271u38i RefDIC:974 GeneLocus:974 SO:0000010
RAPID:AGID_39 CD8A mRNA:NM_001768.5 | mRNA:NM_171827.2 Cd8a molecule CD8 | Leu2 | MAL | p32 CD8alpha deficiency CD8 deficiency, familial | CD8A deficiency | CD8α deficiency OMIM:608957 Recurrent bacterial respiratory infections | Bronchiectasis | recurrent viral infections | Isolated absence of CD8+ T cells | normal CD4+ cells subset | bronchitis with productive cough | otitis media | Haemophilus influenzae infectious disease | severe mixed ventilatory disturbance Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:64 HPRD:01737 OMIM:186910 EntrezGene:925 NetPath:NetPath_M925 Reactome:925 PDB:1AKJ | PDB:1CD8 | PDB:1Q69 | PDB:2HP4 Ensembl:ENSG00000153563 HGNC:1706 SwissProt:P01732 BioLOD:cria271u1ria271u39i RefDIC:925 GeneLocus:925 SO:0000010
RAPID:AGID_40 CEBPE mRNA:NM_001805.2 Ccaat/enhancer binding protein (c/ebp), epsilon C/EBP-epsilon | CRP1 Neutrophil-specific granule deficiency SGD | Specific granule deficiency | Lactoferin-deficient neutrophils | Neutrophil lactoferrin deficiency OMIM:245480 Recurrent infections | Absent neutrophil specific granules | Absent neutrophil lactoferrin | Abnormal neutrophil nuclear segmentation | Neutrophil nuclear clefts | Low neutrophil alkaline phosphatase | Increased neutrophil mitochondria and ribosomes | Normal degranulation of azurophil granules after phagocytosis | Normal neutrophil count | defects in the innate-immune response | defect in myelopoiesis | defective in chemotaxis | defective in bacterial killing Congenital defects of Phagocyte number, function or both HP:HP_0000007 IDR:112 HPRD:02852 OMIM:600749 EntrezGene:1053 NetPath:NetPath_M1053 Reactome:1053 Ensembl:ENSG00000092067 HGNC:1836 SwissProt:Q15744 BioLOD:cria271u1ria271u40i RefDIC:1053 GeneLocus:1053 SO:0000010
RAPID:AGID_41 CFB mRNA:NM_001710.4 Complement factor b BF | BFD | CFAB | GBG | H2-Bf | PBF2 Factor B deficiency Complement factor B deficiency | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 | AHUS4 | AHUS, SUSCEPTIBILITY TO, 4 OMIM:612924 persistent activation of the complement alternative pathway | acute renal failure | thrombocytopenia | microangiopathic hemolytic anemia | functional factor B | severe fulminant pyogenic neisserial infections Complement Deficiencies HP:HP_0000007 IDR:95 HPRD:00718 OMIM:138470 EntrezGene:629 NetPath:NetPath_M629 Reactome:629 PDB:1DLE | PDB:1Q0P | PDB:1RRK | PDB:1RS0 | PDB:1RTK Ensembl:ENSG00000204359 HGNC:1037 SwissProt:P00751 BioLOD:cria271u1ria271u41i RefDIC:629 GeneLocus:629 SO:0000010
RAPID:AGID_42 CFD mRNA:NM_001928.2 Complement factor d (adipsin) ADN | DF | PFD Factor D deficiency Complement factor D deficiency OMIM:613912 Recurrent neisserial infections | recurrent systemic meningococcal infections | Partial functional complement factor D deficiency Complement Deficiencies HP:HP_0000006 IDR:98 HPRD:00600 OMIM:134350 EntrezGene:1675 NetPath:NetPath_M1675 Reactome:1675 PDB:1BIO | PDB:1DFP | PDB:1DIC | PDB:1DST | PDB:1DSU | PDB:1FDP | PDB:1HFD Ensembl:ENSG00000197766 HGNC:2771 SwissProt:P00746 BioLOD:cria271u1ria271u42i RefDIC:1675 GeneLocus:1675 SO:0000010
RAPID:AGID_43 CFH mRNA:NM_000186.2 | mRNA:NM_001014975.1 Complement factor h ARMD4 | ARMS1 | CFHL3 | FH | FHL1 | HF | HF1 | HF2 | HUS | MGC88246 Factor H deficiency associated with atypical hemolytic uremic syndrome Complement factor H deficiency associated with hemolytic uremic syndrome | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | AHUS1 | AHUS, SUSCEPTIBILITY TO, 1 OMIM:235400 microangiopathic hemolytic anemia | thrombocytopenia | acute renal failure Complement Deficiencies HP:HP_0000007 IDR:101 HPRD:00601 OMIM:134370 EntrezGene:3075 NetPath:NetPath_M3075 Reactome:3075 PDB:1FHC | PDB:1HAQ | PDB:1HCC | PDB:1HFH | PDB:1HFI | PDB:1KOV | PDB:2BZM | PDB:2G7I | PDB:2IC4 | PDB:2JGW | PDB:2JGX Ensembl:ENSG00000000971 HGNC:4883 SwissProt:P08603 BioLOD:cria271u1ria271u43i RefDIC:3075 GeneLocus:3075 SO:0000010
RAPID:AGID_43 CFH mRNA:NM_000186.2 | mRNA:NM_001014975.1 Complement factor h ARMD4 | ARMS1 | CFHL3 | FH | FHL1 | HF | HF1 | HF2 | HUS | MGC88246 Factor H deficiency Factor H1 deficiency | Complement factor H deficiency | CFH DEFICIENCY | GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR H DEFICIENCY | MPGN II WITH COMPLEMENT FACTOR H DEFICIENCY | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, TYPE II, WITH COMPLEMENT FACTOR H DEFICIENCY OMIM:609814 Progressive renal insufficiency | Membranoproliferative glomerulonephritis type II | Thickening of the glomerular basement membrane on renal biopsy | Deposition of complement component C3 in glomerular basement membrane | Hematuria | Continuous activation of the alternative complement pathway | Hypocomplementemia | Depletion of components of the alternative complement pathway | Increased susceptibility to certain bacterial infections, especially neisseria meningitidis | Decreased serum complement factor H | Normal levels of complement factor H, but impaired function | Hypocomplementemia | IgA nephropathy Complement Deficiencies HP:HP_0000006 | HP:HP_0000007 IDR:101 HPRD:00601 OMIM:134370 EntrezGene:3075 NetPath:NetPath_M3075 Reactome:3075 PDB:1FHC | PDB:1HAQ | PDB:1HCC | PDB:1HFH | PDB:1HFI | PDB:1KOV | PDB:2BZM | PDB:2G7I | PDB:2IC4 | PDB:2JGW | PDB:2JGX Ensembl:ENSG00000000971 HGNC:4883 SwissProt:P08603 BioLOD:cria271u1ria271u43i RefDIC:3075 GeneLocus:3075 SO:0000010
RAPID:AGID_44 CFI mRNA:NM_000204.2 Complement factor i C3b-INA | FI | IF | KAF | factor I Factor I deficiency Complement factor I deficiency | GLOMERULONEPHRITIS WITH ISOLATED C3 DEPOSITS AND FACTOR I DEFICIENCY OMIM:610984 Recurrent sinusitis | Recurrent otitis media | Vasculitis | Recurrent respiratory infections | Renal failure | Glomerulonephritis | Pyelonephritis | Recurrent urinary tract infections | Arthritis | Recurrent skin infections | Recurrent meningitis | Decreased serum complement factor I | Activation of the alternative complement pathway and depletion of complement components | Decreased serum complement factor B | Decreased serum complement C3 | Decreased serum complement factor H | Frequent pyogenic infections | Recurrent meningococcal disease | Increased susceptibility to streptococcus pneumoniae infections | Increased susceptibility to Haemophilus influenzae infections | defective opsonization Complement Deficiencies HP:HP_0000007 IDR:99 HPRD:01955 OMIM:217030 EntrezGene:3426 Reactome:3426 Ensembl:ENSG00000205403 HGNC:5394 SwissProt:P05156 BioLOD:cria271u1ria271u44i RefDIC:3426 GeneLocus:3426 SO:0000010
RAPID:AGID_44 CFI mRNA:NM_000204.2 Complement factor i C3b-INA | FI | IF | KAF | factor I Factor I deficiency associated with atypical hemolytic uremic syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 3 | AHUS, SUSCEPTIBILITY TO, 3 OMIM:612923 thrombotic microangiopathy | Decreased serum complement factor I | Decreased serum complement factor B | Decreased serum complement C3 | severe microangiopathic hemolytic anemia | hypertension | proteinuria Complement Deficiencies HP:HP_0000007 IDR:99 HPRD:01955 OMIM:217030 EntrezGene:3426 Reactome:3426 Ensembl:ENSG00000205403 HGNC:5394 SwissProt:P05156 BioLOD:cria271u1ria271u44i RefDIC:3426 GeneLocus:3426 SO:0000010
RAPID:AGID_45 NLRP3 mRNA:NM_004895.3 | mRNA:NM_183395.1 Nlr family, pyrin domain containing 3 AGTAVPRL | AII | AII/AVP | AVP | C1orf7 | CIAS1 | CLR1.1 | FCAS | FCU | MWS | NALP3 | PYPAF1 Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome 1 | FCAS1 | FCAS | Cold hypersensitivity | Familial cold-induced autoinflammatory syndrome | Familial cold urticaria | FCU OMIM:120100 Conjunctivitis | maculopapular rash | myalgia, episodic | swelling of the extremities, episodic | headache, episodic | Fever, episodic | polymorphonuclear leukocytosis, episodic | increased serum C-reactive protein, episodic | Arthropathy | urticaria | chronic meningitis | nonpruritic urticaria | arthritis | chills | responsive to IL-1R antagonist | monoclonal IgM gammopathy | lymphadenopathy | hepatomegaly and/or splenomegaly Autoinflammatory Disorders HP:HP_0000006 IDR:143 | IDR:144 HPRD:05915 OMIM:606416 EntrezGene:114548 Reactome:114548 Ensembl:ENSG00000162711 HGNC:16400 SwissProt:Q96P20 BioLOD:cria271u1ria271u45i RefDIC:114548 GeneLocus:114548 SO:0000010
RAPID:AGID_45 NLRP3 mRNA:NM_004895.3 | mRNA:NM_183395.1 Nlr family, pyrin domain containing 3 AGTAVPRL | AII | AII/AVP | AVP | C1orf7 | CIAS1 | CLR1.1 | FCAS | FCU | MWS | NALP3 | PYPAF1 Muckle-Wells syndrome MWS OMIM:191900 Late onset sensorineural deafness | conjunctivitis | aphthous stomatitis | recurrent late-onset renal amyloidosis | renal failure | arthralgia | Lower extremity pain | maculopapular rash | myalgia, episodic | Fever, episodic | polymorphonuclear leukocytosis, episodic | increased IL6, episodic | elevated erythrocyte sedimentation rate Autoinflammatory Disorders HP:HP_0000006 IDR:143 | IDR:144 HPRD:05915 OMIM:606416 EntrezGene:114548 Reactome:114548 Ensembl:ENSG00000162711 HGNC:16400 SwissProt:Q96P20 BioLOD:cria271u1ria271u45i RefDIC:114548 GeneLocus:114548 SO:0000010
RAPID:AGID_45 NLRP3 mRNA:NM_004895.3 | mRNA:NM_183395.1 Nlr family, pyrin domain containing 3 AGTAVPRL | AII | AII/AVP | AVP | C1orf7 | CIAS1 | CLR1.1 | FCAS | FCU | MWS | NALP3 | PYPAF1 CINCA syndrome CINCA | CHRONIC INFANTILE NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME | Neonatal onset multisystem inflammatory disease | NOMID OMIM:607115 Chronic meningitis | arthropathy | maculopapular rash | fever, episodic | swelling of the extremities, episodic | headache, episodic | Late onset sensorineural deafness | conjunctivitis | growth retardation Autoinflammatory Disorders HP:HP_0000006 IDR:143 | IDR:144 HPRD:05915 OMIM:606416 EntrezGene:114548 Reactome:114548 Ensembl:ENSG00000162711 HGNC:16400 SwissProt:Q96P20 BioLOD:cria271u1ria271u45i RefDIC:114548 GeneLocus:114548 SO:0000010
RAPID:AGID_46 CIITA mRNA:NM_000246.3 Class ii, major histocompatibility complex, transactivator C2TA | CIITA IV | MHC2TA | NLRA CIITA, MHC II transactivating protein deficiency MHC class II deficiency | Bare Lymphocyte Syndrome Type II - Failure to thrive | liver disease | diarrhea | chronic Cryptosporidium infection | neutropenia | severe autoimmune cytopenia | Cytomegalovirus infectious disease | respiratory syncytial virus infectious disease | enterovirus infection | Streptococcal infection | Haemophilus infection | Proteus infectious disease | Pseudomonas infectious disease | Pneumocystis infectious disease | Candida albicans infection | Recurrent bronchopulmonary infections | Neurological manifestation | decreased number of CD4+ T cells Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:12 HPRD:02475 OMIM:600005 EntrezGene:4261 NetPath:NetPath_M4261 Reactome:4261 Ensembl:ENSG00000179583 HGNC:7067 SwissProt:P33076 BioLOD:cria271u1ria271u46i RefDIC:4261 GeneLocus:4261 SO:0000010
RAPID:AGID_47 CSF3R mRNA:NM_000760.2 | mRNA:NM_156038.2 | mRNA:NM_156039.2 | mRNA:NM_172313.1 Colony stimulating factor 3 receptor (granulocyte) CD114 | GCSFR Severe congenital neutropenias, including Kostmann syndrome SCN3 | Infantile genetic agranulocytosis | Kostmann disease | Genetic infantile agranulocytosis | NEUTROPHILIA, HEREDITARY OMIM:162830 Neutrophilia | Segmented neutrophils | Myelodysplastic syndrome | temperature instability | fever | irritability | recurrent infections | erosive gingivitis | haemorrhage | pain | Severe neutropenia Congenital defects of Phagocyte number, function or both HP:HP_0000006 IDR:85 HPRD:00737 OMIM:138971 EntrezGene:1441 NetPath:NetPath_M1441 Reactome:1441 PDB:1AZ7 | PDB:2D9Q Ensembl:ENSG00000119535 HGNC:2439 SwissProt:Q99062 BioLOD:cria271u1ria271u47i RefDIC:1441 GeneLocus:1441 SO:0000010
RAPID:AGID_48 CTSC mRNA:NM_001814.2 | mRNA:NM_148170.2 Cathepsin c CPPI | DPP1 | DPPI | HMS | JP | JPD | PALS | PLS Papillon-Lefevre syndrome Keratosis palmoplantaris with periodontopathia | Palmoplantar keratoderma (PPK) with periodontitis | CTSC deficiency | PLS | PALS | PPP | HMS OMIM:245000 Severe, early-onset periodontitis | Loss of teeth | Atrophy of alveolar ridges | Hyperkeratosis of palms and soles | Dural and choroid plexus calcifications Congenital defects of Phagocyte number, function or both HP:HP_0000007 IDR:154 HPRD:03841 OMIM:602365 EntrezGene:1075 NetPath:NetPath_M1075 Reactome:1075 PDB:1K3B | PDB:2DJF | PDB:2DJG Ensembl:ENSG00000109861 HGNC:2528 SwissProt:P53634 BioLOD:cria271u1ria271u48i RefDIC:1075 GeneLocus:1075 SO:0000010
RAPID:AGID_49 CXCR4 mRNA:NM_001008540.1 | mRNA:NM_003467.2 Chemokine (c-x-c motif) receptor 4 CD184 | D2S201E | FB22 | HM89 | HSY3RR | LAP3 | LCR1 | LESTR | NPY3R | NPYR | NPYRL | NPYY3R | WHIM WHIM syndrome WHIM | WARTS, hypogammaglobulinemia, infections, and myelokathexis | WARTS, hypogammaglobulinemia, recurrent bacterial infections, and myelokathexis | Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome OMIM:193670 Vulval condylomata acuminata | Cervical papillomatosis with cervical dysplasia | Verrucae | Myelokathexis | Bone marrow hypercellularity | Peripheral neutropenia | Hypermature neutrophils have condensed nuclei connected by long, stringy filaments and vacuolated cytoplasm | Chronic human papillomavirus infection | Recurrent upper respiratory infections | Hypogammaglobulinemia Defects in Innate Immunity HP:HP_0000006 IDR:7 HPRD:01217 OMIM:162643 EntrezGene:7852 NetPath:NetPath_M7852 Reactome:7852 Ensembl:ENSG00000121966 HGNC:2561 SwissProt:P61073 BioLOD:cria271u1ria271u49i RefDIC:7852 GeneLocus:7852 SO:0000010
RAPID:AGID_50 CYBA mRNA:NM_000101.2 Cytochrome b-245, alpha polypeptide p22-PHOX p22phox deficiency CGD, Autosomal recessive cytochrome b-negative | CGD due to deficiency of the alpha subunit of cytochrome b | CYBA deficiency | Chronic granulomatous disease, Autosomal recessive, cytochrome b-negative OMIM:233690 Pneumonia due to immunodeficiency | Hepatic abscesses due to immunodeficiency | Hepatomegaly | Splenomegaly | Perirectal abscesses due to immunodeficiency | Osteomyelitis due to immunodeficiency | Dermatitis, infectious, due to immunodeficiency Impetigo | Eczematoid dermatitis | Discoid lupus in carriers or adults with mild disease | Cellulitis due to immunodeficiency | Recurrent bacterial infections | Fungal infections, recurrent | Absence of bactericidal oxidative respiratory burst in phagocytes | Abscess formation in any organ | Lymphadenitis | Lymphadenopathy | Aspergillus infections | Klebsiella infections | Staphylococcus aureus infections | E. coli infections | Burkholderia cepacia infections | Serratia marcescens infections | Tissue biopsy shows granulomas | Biopsy shows lipid-laden macrophages | Deficiency or absence of cytochrome b(-245) | Deficiency or absence of p22-phox protein | Negative nitroblue tetrazolium (NBT) reduction test | Decreased activity of NADPH oxidase Congenital defects of Phagocyte number, function or both HP:HP_0000007 IDR:39 HPRD:01989 OMIM:608508 EntrezGene:1535 Reactome:1535 PDB:1WLP Ensembl:ENSG00000051523 HGNC:2577 SwissProt:P13498 BioLOD:cria271u1ria271u50i RefDIC:1535 GeneLocus:1535 SO:0000010
RAPID:AGID_51 CYBB mRNA:NM_000397.3 Cytochrome b-245, beta polypeptide (chronic granulomatous disease) CGD | GP91-1 | GP91-PHOX | GP91PHOX | NOX2 X-linked chronic granulomatous disease X-CGD | Granulomatous disease, chronic, X-LINKED | CGD | Cytochrome b-negative granulomatous disease, chronic, X-linked | Chronic granulomatous disease, X-linked OMIM:306400 Pneumonia due to immunodeficiency | Hepatic abscesses due to immunodeficiency | Hepatomegaly | Splenomegaly | Perirectal abscesses due to immunodeficiency | Osteomyelitis due to immunodeficiency | Dermatitis, infectious, due to immunodeficiency | Impetigo | Eczematoid dermatitis | Discoid lupus in carriers or adults with mild disease | Cellulitis due to immunodeficiency | Recurrent bacterial infections | Fungal infections, recurrent | Absence of bactericidal oxidative respiratory burst in phagocytes | Abscess formation in any organ | Lymphadenitis | Lymphadenopathy | Aspergillus infections | Klebsiella infections | Staphylococcus aureus infections | E. coli infections | Burkholderia cepacia infections | Serratia marcescens infections | Tissue biopsy shows granulomas | Biopsy shows lipid-laden macrophages | Deficiency or absence of cytochrome b(-245) | Deficiency or absence of p91-phox protein | Negative nitroblue tetrazolium (NBT) reduction test | Decreased activity of NADPH oxidase Congenital defects of Phagocyte number, function or both HP:HP_0001419 IDR:38 HPRD:02382 OMIM:300481 EntrezGene:1536 NetPath:NetPath_M1536 Reactome:1536 Ensembl:ENSG00000165168 HGNC:2578 SwissProt:P04839 BioLOD:cria271u1ria271u51i RefDIC:1536 GeneLocus:1536 SO:0000010
RAPID:AGID_52 DCLRE1C mRNA:NM_001033855.1 | mRNA:NM_001033857.1 | mRNA:NM_001033858.1 | mRNA:NM_022487.2 Dna cross-link repair 1c (pso2 homolog, s. cerevisiae) A-SCID | DCLREC1C | FLJ11360 | FLJ36438 | RS-SCID | SCIDA | SNM1C | ARTEMIS Artemis deficiency Omenn syndrome | RS-SCID | Native American SCID | Severe combined immunodeficiency with sensitivity to ionizing radiation | Severe Combined Immunodeficiency, Athabaskan type | SCIDA | Athabaskan severe combined immunodeficiency | SCID with radiosensitivity OMIM:602450 Failure to thrive | Otitis media | Oral ulcers | Absent tonsils | Recurrent upper respiratory tract infections | Pneumonia | Diarrhea | Genital ulcers | Reduced/absent CD3+ T cells | Very low lymphocyte proliferation in response to mitogens and alloantigens | Absent thymus | Small lymph nodes | Panhypogammaglobulinemia | defective VDJ recombination | radiation Sensitivity Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:5 HPRD:05817 OMIM:605988 EntrezGene:64421 Reactome:64421 Ensembl:ENSG00000152457 HGNC:17642 SwissProt:Q96SD1 BioLOD:cria271u1ria271u52i RefDIC:64421 GeneLocus:64421 SO:0000010
RAPID:AGID_53 DKC1 mRNA:NM_001363.2 Dyskeratosis congenita 1, dyskerin DKC | NAP57 | NOLA4 | XAP101 | dyskerin Hoyeraal-Hreidarsson syndrome HHS | Cerebellar hypoplasia with pancytopenia | Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia OMIM:300240 Prenatal growth deficiency | Microcephaly | Aphthous stomatitis | Mental retardation | Ataxia | Cerebellar hypoplasia | Cerebellar malformation | Thrombocytopenia | Anemia | Pancytopenia | Bone marrow failure Other Well-defined Immunodeficiency Syndromes HP:HP_0001419 IDR:113 HPRD:02129 OMIM:300126 EntrezGene:1736 NetPath:NetPath_M1736 Reactome:1736 Ensembl:ENSG00000130826 HGNC:2890 SwissProt:O60832 BioLOD:cria271u1ria271u53i RefDIC:1736 GeneLocus:1736 SO:0000010
RAPID:AGID_53 DKC1 mRNA:NM_001363.2 Dyskeratosis congenita 1, dyskerin DKC | NAP57 | NOLA4 | XAP101 | dyskerin Dyskeratosis congenita-1 DYSKERATOSIS CONGENITA, X-LINKED | DKC | DKCX OMIM:305000 Short stature | Conjunctival leukoplakia | Epiphora | Conjunctivitis | Blepharitis | Strabismus | Cataract | Optic atrophy | Sparse eyelashes | Leukoplakia | Carious teeth | Early tooth loss | Restrictive lung disease | Reduced diffusion capacity | Pulmonary fibrosis | Cirrhosis | Anal mucosal leukoplakia | Esophageal stricture | Hypospadias | Phimosis | Urethral stenosis | Decreased testicular size | Cryptorchidism | Horseshoe kidney | Osteoporosis | Reticulated skin pigmentation | Hyperhidrosis | Skin atrophy | Nail dystrophy | Longitudinal ridging | Longitudinal splitting | Pterygium formation (nails) | Complete nail loss | Alopecia | Premature graying of hair | Myelodysplasia | Pancytopenia | Thrombocytopenia | Leukopenia | Anemia | Opportunistic infections (CMV, pneumocystis, candida) | Squamous cell carcinoma | Acute myeloid leukemia | Hodgkin disease | Pancreatic carcinoma | Increased chromosomal rearrangements (bone marrow and fibroblast culture) Other Well-defined Immunodeficiency Syndromes HP:HP_0001419 IDR:113 HPRD:02129 OMIM:300126 EntrezGene:1736 NetPath:NetPath_M1736 Reactome:1736 Ensembl:ENSG00000130826 HGNC:2890 SwissProt:O60832 BioLOD:cria271u1ria271u53i RefDIC:1736 GeneLocus:1736 SO:0000010
RAPID:AGID_54 DNMT3B mRNA:NM_006892.3 | mRNA:NM_175848.1 | mRNA:NM_175849.1 | mRNA:NM_175850.1 Dna (cytosine-5-)-methyltransferase 3 beta ICF | M.HsaIIIB Immunodeficiency-centromeric instability-facial anomalies syndrome 1 ICF syndrome | ICF | Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 | Centromeric instability, immunodeficiency syndrome | CIID | Immunodeficiency with centromeric instability and facial anomalies (ICF) | ICF1 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Immunodeficiency syndrome, variable OMIM:242860 Short stature | weight below the third percentile | Microcephaly | Failure to thrive | Sinusitis | Malar hypoplasia | Epicanthus | Hypertelorism | Low-set ears | Flattened nasal bridge | Small-upturned nose | Micrognathia | Protruding tongue | Macroglossia | Chronic bronchitis | Bronchiectasis | Pneumonia | Diarrhea | Malabsorption | Variable mental retardation ranging from severe neurodegeneration to mild mental retardation | Reduced number of T cells | Reduced number of natural killer cells | Reduced IgA levels | Increased IgM levels | Centromeric instability of chromosomes 1, 9 and 16 | increased somatic recombination and formation of multibranched configurations Other Well-defined Immunodeficiency Syndromes HP:HP_0000007 IDR:124 HPRD:04209 OMIM:602900 EntrezGene:1789 Reactome:1789 Ensembl:ENSG00000088305 HGNC:2979 SwissProt:Q9UBC3 BioLOD:cria271u1ria271u54i RefDIC:1789 GeneLocus:1789 SO:0000010
RAPID:AGID_55 ELANE mRNA:NM_001972.2 Elastase 2, neutrophil GE | HLE | HNE | NE | PMN-E | ELA2 Cyclic neutropenia CYCLIC HEMATOPOIESIS OMIM:162800 Cyclic neutropenia | Mucosal ulcers | Recurring fever and malaise | Occasional life-threatening infections Congenital defects of Phagocyte number, function or both HP:HP_0000006 IDR:86 HPRD:00554 OMIM:130130 EntrezGene:1991 NetPath:NetPath_M1991 Reactome:1991 PDB:1B0F | PDB:1H1B | PDB:1HNE | PDB:1PPF | PDB:1PPG Ensembl:ENSG00000197561 HGNC:3309 SwissProt:P08246 BioLOD:cria271u1ria271u55i RefDIC:1991 GeneLocus:1991 SO:0000010
RAPID:AGID_55 ELANE mRNA:NM_001972.2 Elastase 2, neutrophil GE | HLE | HNE | NE | PMN-E | ELA2 Severe congenital neutropenia, autosomal dominant 1 SCN1 OMIM:202700 Agranulocytosis | Promyelocytic maturation arrest | Monocytosis | Eosinophilia | Thrombocytosis | Acute monocytic leukemia | Hypergammaglobulinemia Congenital defects of Phagocyte number, function or both HP:HP_0000006 IDR:86 HPRD:00554 OMIM:130130 EntrezGene:1991 NetPath:NetPath_M1991 Reactome:1991 PDB:1B0F | PDB:1H1B | PDB:1HNE | PDB:1PPF | PDB:1PPG Ensembl:ENSG00000197561 HGNC:3309 SwissProt:P08246 BioLOD:cria271u1ria271u55i RefDIC:1991 GeneLocus:1991 SO:0000010
RAPID:AGID_56 F12 mRNA:NM_000505.3 Coagulation factor xii (hageman factor) HAE3 | HAEX | HAF Hereditary angioedema, type III HAE type III | Estrogen-related HAE | Estrogen-sensitive HAE | Angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function | HAE with normal C1 inhibitor concentration and function | Hereditary angioedema with normal C1 inhibitor activity OMIM:610618 Recurrent angioedema | Laryngeal edema | recurrent skin swelling | abdominal pain attacks | Upper airway obstruction | Normal plasma concentration of C1-inhibitor protein | Normal plasma concentration of C4 protein Complement Deficiencies HP:HP_0000006 IDR:160 HPRD:01992 OMIM:610619 EntrezGene:2161 Reactome:2161 Ensembl:ENSG00000131187 HGNC:3530 SwissProt:P00748 BioLOD:cria271u1ria271u56i RefDIC:2161 GeneLocus:2161 SO:0000010
RAPID:AGID_57 FASLG mRNA:NM_000639.1 Fas ligand (tnf superfamily, member 6) APT1LG1 | CD178 | CD95L | FASL | TNFSF6 Autoimmune lymphoproliferative syndrome, type 1B ALPS1B, ALPS Ib, ALPS type Ib | APO-1 ligand/Fas ligand defecttype Ib,defective CD178 | FASLG-Related Autoimmune Lymphoproliferative Syndrome | Autoimmune Lymphoproliferative Syndrome, Type Ib - Lymphadenopathy | splenomegaly | cytopenia | polyadenopathy | hyper-gammaglobulinemia G | serum hyper IgA | Autoimmune manifestations | Abnormality of the hematopoietic system | systemic lupus erythematosus | Absent CD4+ T cells | Absent CD8+ T cells | Increased numbers of double negative T lymphocytes (CD3+CD4 CD8 ) | Increased number of B cells | expansion of T lymphocyte population | Impairement of TCR-induced apoptosis | Presence of autoantibodies | increased susceptibility to hematological malignancy Diseases of Immune Dysregulation HP:HP_0000006 | HP:HP_0000007 IDR:37 HPRD:00610 OMIM:134638 EntrezGene:356 NetPath:NetPath_M356 Reactome:356 PDB:1BZI Ensembl:ENSG00000117560 HGNC:11936 SwissProt:P48023 BioLOD:cria271u1ria271u57i RefDIC:356 GeneLocus:356 SO:0000010
RAPID:AGID_58 FCGR1A mRNA:NM_000566.2 Fc fragment of igg, high affinity ia, receptor (cd64) CD64 | CD64A | FCRI | IGFR1 CD64 deficiency - - lack of CD64 expression Congenital defects of Phagocyte number, function or both - IDR:132 HPRD:00904 OMIM:146760 EntrezGene:2209 NetPath:NetPath_M2209 Reactome:2209 Ensembl:ENSG00000150337 HGNC:3613 SwissProt:P12314 BioLOD:cria271u1ria271u58i RefDIC:2209 GeneLocus:2209 SO:0000010
RAPID:AGID_59 FCGR3A mRNA:NM_000569.6 Fc fragment of igg, low affinity iiia, receptor (cd16a) CD16 | CD16a | FCG3 | FCGR3 | IGFR3 Natural killer cell deficiency NK cell deficiency | CD16 deficiency OMIM:152700 susceptibility to herpes virus infections | recurrent viral respiratory tract infections | NK cytopenia | Epstein-Barr virus infection | Varicella Zoster virus infection Other Well-defined Immunodeficiency Syndromes HP:HP_0000007 IDR:135 HPRD:00903 OMIM:146740 EntrezGene:2214 Reactome:2214 Ensembl:ENSG00000203747 HGNC:3619 SwissProt:P08637 BioLOD:cria271u1ria271u59i RefDIC:2214 GeneLocus:2214 SO:0000010
RAPID:AGID_60 FOXN1 mRNA:NM_003593.2 5Forkhead box n1 FKHL20 | RONU | WHN T-cell immunodeficiency, congenital alopecia, and nail dystrophy Winged helix deficiency (Nude) | Human Nude/SCID OMIM:601705 Congenital alopecia | severe T-cell immunodeficiency | nail ridging | nail pitting | abnormal thymic epithelium | decreased mature T lymphocytes | decreased helper T cells | normal number of suppressor/cytotoxic T cells | decreased proliferative response to mitogen stimulation | normal proliferative response to phorbol myristate acetate and ionomycin Combined T-cell and B-cell immunodeficiencies HP:HP_0000007 IDR:128 HPRD:02907 OMIM:600838 EntrezGene:8456 Reactome:8456 Ensembl:ENSG00000109101 HGNC:12765 SwissProt:O15353 BioLOD:cria271u1ria271u60i RefDIC:8456 GeneLocus:8456 SO:0000010
RAPID:AGID_61 FOXP3 mRNA:NM_014009.2 Forkhead box p3 AIID | DIETER | IPEX | JM2 | MGC141961 | MGC141963 | PIDX | XPID X-linked immunodeficiency, polyendocrinopathy, enteropathy IPEX | X-linked autoimmunity-allergic dysregulation syndrome, XLAAD | IDDM-secretory diarrhea syndrome, DMSD | Autoimmunity-immunodeficiency syndrome | Diarrhea, polyendocrinopathy, fatal infection syndrome | Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy | Polyendocrinopathy, immune dysfunction, and diarrhea | XPID | Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea | Immunodeficiency, polyendocrinopathy, and enteropathy, formerly absence of islets of Langerhans | IPEX, immune dysregulation, polyendocrinopathy, enteropathy (X-linked) OMIM:304790 Diarrhea, secretory | Enteropathy | Ileus | Biopsy shows villous atrophy | Chronic inflammation | Eczema | Atopy | Insulin-dependent diabetes mellitus (type I) | Hypothyroidism | Hemolytic anemia, autoimmune | Thrombocytopenia | Immune dysregulation | Variable autoimmune disorders | Lymphadenopathy | Autoantibodies | reduced numbers of CD4+CD25+CD127low T cells | elevated serum IgA | elevated serum IgE | autoimmune enteropathy Diseases of Immune Dysregulation HP:HP_0001419 IDR:78 HPRD:02242 OMIM:300292 EntrezGene:50943 Reactome:50943 Ensembl:ENSG00000049768 HGNC:6106 SwissProt:Q9BZS1 BioLOD:cria271u1ria271u61i RefDIC:50943 GeneLocus:50943 SO:0000010
RAPID:AGID_62 GFI1 mRNA:NM_005263.2 Growth factor independent 1 transcription repressor ZNF163 GFI1 deficiency Severe congenital neutropenia, autosomal dominant 2 | SCN2 OMIM:613107 recurrent bacterial infections | fatigue | weakness | dyspnea | PETECHIAE | Purpura | epistaxis Congenital defects of Phagocyte number, function or both HP:HP_0000006 IDR:129 HPRD:07527 OMIM:600871 EntrezGene:2672 Reactome:2672 Ensembl:ENSG00000162676 HGNC:4237 SwissProt:Q99684 BioLOD:cria271u1ria271u62i RefDIC:2672 GeneLocus:2672 SO:0000010
RAPID:AGID_63 HAX1 mRNA:NM_001018837.1 | mRNA:NM_006118.3 Hcls1 associated protein x-1 HCLSBP1 | HS1BP1 | SCN3 Severe congenital neutropenia, autosomal recessive 3 - OMIM:610738 Psychomotor retardation | Seizures | Neutropenia | Recurrent bacterial infections | Increased risk of myelodysplastic syndromes | Increased risk of leukemia Congenital defects of Phagocyte number, function or both HP:HP_0000007 HPRD:12075 OMIM:605998 EntrezGene:10456 NetPath:NetPath_M10456 Reactome:10456 Ensembl:ENSG00000143575 HGNC:16915 SwissProt:O00165 BioLOD:cria271u1ria271u63i RefDIC:10456 GeneLocus:10456 SO:0000010
RAPID:AGID_64 ICOS mRNA:NM_012092.2 Inducible t-cell co-stimulator AILIM | CD278 | MGC39850 ICOS deficiency IMMUNODEFICIENCY, COMMON VARIABLE, 1 | CVID1 | ANTIBODY DEFICIENCY DUE TO ICOS DEFECT | Inducible costimulator deficiency OMIM:607594 Sinusitis, recurrent | Otitis media, recurrent | Conjunctivitis | Bronchiectasis | Bronchitis, recurrent | Pneumonia, recurrent episodes | Hepatomegaly | Splenomegaly | Enteritis, recurrent | Diarrhea | Recurrent bacterial infections | Herpes infections | Lymphadenopathy | Hypogammaglobulinemia | Normal or reduced numbers of B cells | Defective antibody production | Normal numbers of T cells | Variable degree of T cell dysfunction | Autoimmune neutropenia | Markedly reduced IgA levels | Markedly reduced IgG levels Predominantly antibody deficiencies HP:HP_0000007 IDR:116 HPRD:09196 OMIM:604558 EntrezGene:29851 NetPath:NetPath_M29851 Reactome:29851 Ensembl:ENSG00000163600 HGNC:5351 SwissProt:Q9Y6W8 BioLOD:cria271u1ria271u64i RefDIC:29851 GeneLocus:29851 SO:0000010
RAPID:AGID_65 IFNGR1 mRNA:NM_000416.1 Interferon gamma receptor 1 CD119 | FLJ45734 | IFNGR IFNγ1-receptor deficiency IFN-gamma1 receptor deficiency | IFNGR1D | IFNGR1 deficiency | IL12/IL23-IFN-gama axis deficiencies | Mendelian susceptibility to mycobacterial infection | MSMD | Mycobacterium tuberculosis infection, protection against | Susceptibility to mycobacterium tuberculosis OMIM:209950 | OMIM:600263 | OMIM:607000 Severe or fatal mycobacterial infection | asthma | atopy | glomerulonephritis | vasculitis | Rheumatoid factor positive | Generalized BCG infection after newborn inoculation | Salmonella enteritidis infection | symptomatic tuberculosis | lack of mature mycobacterial granulomas | Osteomyelitis | absence of IFNγ signaling Congenital defects of Phagocyte number, function or both HP:HP_0000007 | HP:HP_0000006 IDR:44 HPRD:00127 OMIM:107470 EntrezGene:3459 NetPath:NetPath_M3459 Reactome:3459 PDB:1FG9 | PDB:1FYH | PDB:1JRH Ensembl:ENSG00000027697 HGNC:5439 SwissProt:P15260 BioLOD:cria271u1ria271u65i RefDIC:3459 GeneLocus:3459 SO:0000010
RAPID:AGID_66 IFNGR2 mRNA:NM_005534.2 Interferon gamma receptor 2 (interferon gamma transducer 1) AF-1 | IFGR2 | IFNGT1 IFNγ2-receptor deficiency IFN-gamma2 receptor deficiency | IFNGR2D | IFGR2 | IL12/IL23-IFN-gama axis deficiencies | Mendelian susceptibility to mycobacterial infection OMIM:209950 Generalized BCG infection after newborn inoculation | lepromatous-like lesions | Mycobacterium abscessus infection | absence of IFNγ signaling Congenital defects of Phagocyte number, function or both HP:HP_0000007 IDR:45 HPRD:00956 OMIM:147569 EntrezGene:3460 NetPath:NetPath_M3460 Reactome:3460 Ensembl:ENSG00000159128 HGNC:5440 SwissProt:P38484 BioLOD:cria271u1ria271u66i RefDIC:3460 GeneLocus:3460 SO:0000010
* Row count is limited to 100.