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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   leukocyte adhesion deficiency
  

Disease ID 377
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)
55343  |  SLC35C1  |  UNIPROT
83706  |  FERMT3  |  UNIPROT
3689  |  ITGB2  |  CLINVAR;UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
3689  |  ITGB2  |  CIPHER
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
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
Disease leukocyte adhesion deficiency
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0263222  |  chronic eczema
C0031090  |  periodontal disease
C0029166  |  oral manifestations
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0031090  |  periodontal disease  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:12)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs137852609NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144889376GA
rs137852610NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144901646TG
rs137852611NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144903418AG
rs137852612NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144901728CT
rs137852613NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144895002TC
rs137852614NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144901700GA
rs137852615NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144903482CT,A
rs137852616NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144900367CT
rs137852617NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144903452AG
rs137852618NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144900400CT
rs387906411NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144910781AT
rs5030672NA3689ITGB2umls:C0272187CLINVARNA0.134310474NAITGB22144889397GA
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 377
Disease leukocyte adhesion deficiency
Case(Waiting for update.)