leukocyte adhesion deficiency |
Disease ID | 377 |
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Disease | leukocyte adhesion deficiency |
Definition | A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections. |
Synonym | adhesion deficiencies leukocyte adhesions deficiency leukocyte congenital leucocyte adherence deficiency congenital leukocyte adherence deficiency congenital leukocyte adherence deficiency (disorder) leucocyte adhesion deficiency |
Orphanet | |
DOID | |
UMLS | C0272187 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0031090 | periodontal disease | 1 C0019829 | hodgkin's lymphoma | 1 C0024299 | lymphoma | 1 C0024305 | non-hodgkin's lymphoma | 1 C0002726 | amyloidosis | 1 C0029443 | osteomyelitis | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:57) 85365 | ALG2 | 2.806 | DISEASES 196527 | ANO6 | 1.526 | DISEASES 54518 | APBB1IP | 2.942 | DISEASES 9138 | ARHGEF1 | 2.548 | DISEASES 64170 | CARD9 | 2.683 | DISEASES 831 | CAST | 1.348 | DISEASES 914 | CD2 | 1.579 | DISEASES 960 | CD44 | 1.367 | DISEASES 961 | CD47 | 2.549 | DISEASES 965 | CD58 | 1.821 | DISEASES 1378 | CR1 | 1.177 | DISEASES 64421 | DCLRE1C | 1.868 | DISEASES 1638 | DCT | 1.625 | DISEASES 1729 | DIAPH1 | 2.013 | DISEASES 1785 | DNM2 | 1.516 | DISEASES 953 | ENTPD1 | 1.06 | DISEASES 2035 | EPB41 | 2.182 | DISEASES 7430 | EZR | 2.17 | DISEASES 2149 | F2R | 1.036 | DISEASES 2209 | FCGR1A | 2.186 | DISEASES 2214 | FCGR3A | 1.434 | DISEASES 10979 | FERMT2 | 3.618 | DISEASES 2268 | FGR | 1.506 | DISEASES 342184 | FMN1 | 1.562 | DISEASES 2524 | FUT2 | 1.034 | DISEASES 2530 | FUT8 | 2.893 | DISEASES 2762 | GMDS | 2.17 | DISEASES 3384 | ICAM2 | 2.455 | DISEASES 51135 | IRAK4 | 1.514 | DISEASES 3676 | ITGA4 | 1.292 | DISEASES 3681 | ITGAD | 3.482 | DISEASES 3683 | ITGAL | 5.516 | DISEASES 3684 | ITGAM | 4.519 | DISEASES 3980 | LIG3 | 2.027 | DISEASES 4043 | LRPAP1 | 1.544 | DISEASES 4478 | MSN | 2.509 | DISEASES 4519 | MT-CYB | 2.384 | DISEASES 4638 | MYLK | 1.202 | DISEASES 23218 | NBEAL2 | 1.548 | DISEASES 5251 | PHEX | 1.259 | DISEASES 5328 | PLAU | 1.183 | DISEASES 5329 | PLAUR | 1.384 | DISEASES 23509 | POFUT1 | 3.317 | DISEASES 23275 | POFUT2 | 3.09 | DISEASES 5592 | PRKG1 | 1.382 | DISEASES 754 | PTTG1IP | 2.861 | DISEASES 5900 | RALGDS | 1.404 | DISEASES 10235 | RASGRP2 | 4.117 | DISEASES 5962 | RDX | 2.672 | DISEASES 6401 | SELE | 2.832 | DISEASES 6693 | SPN | 1.511 | DISEASES 6915 | TBXA2R | 1.822 | DISEASES 80312 | TET1 | 2.065 | DISEASES 7124 | TNF | 1.207 | DISEASES 9966 | TNFSF15 | 1.347 | DISEASES 7409 | VAV1 | 1.201 | DISEASES 26276 | VPS33B | 2.242 | DISEASES |
Locus | (Waiting for update.) |
Disease ID | 377 |
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Disease | leukocyte adhesion deficiency |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001061 | Acne | 1 HP:0011034 | Amyloid disease | 1 HP:0001263 | Developmental retardation | 1 HP:0012189 | Hodgkin disease | 1 HP:0002754 | Bone infection | 1 HP:0002665 | Lymphoma | 1 HP:0001974 | Leukocytosis | 1 |
Disease ID | 377 |
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Disease | leukocyte adhesion deficiency |
Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:12) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs137852609 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44889376 | G | A |
rs137852610 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44901646 | T | G |
rs137852611 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44903418 | A | G |
rs137852612 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44901728 | C | T |
rs137852613 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44895002 | T | C |
rs137852614 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44901700 | G | A |
rs137852615 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44903482 | C | T,A |
rs137852616 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44900367 | C | T |
rs137852617 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44903452 | A | G |
rs137852618 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44900400 | C | T |
rs387906411 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44910781 | A | T |
rs5030672 | NA | 3689 | ITGB2 | umls:C0272187 | CLINVAR | NA | 0.134310474 | NA | ITGB2 | 21 | 44889397 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 377 |
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Disease | leukocyte adhesion deficiency |
Case | (Waiting for update.) |