MCID: LKC005
MIFTS: 48

Leukocyte Adhesion Deficiency, Type Iii

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases, Immune diseases

Aliases & Classifications for Leukocyte Adhesion Deficiency, Type Iii

MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type Iii:

Name: Leukocyte Adhesion Deficiency, Type Iii 57 29 13 6 40 73
Leukocyte Adhesion Deficiency Type 1 53 25 29 6 40 73
Leukocyte Adhesion Deficiency 3 57 12 75 15
Leukocyte Adhesion Deficiency 1 Variant 57 12 75
Integrin Activation Deficiency Disease 57 12 75
Lad1v 57 12 75
Lad3 57 12 75
Iadd 57 12 75
Lymphocyte Function-Associated Antigen 1 Immunodeficiency 12 53
Leukocyte Adhesion Deficiency Type Iii 12 59
Leukocyte Adhesion Deficiency Type I 12 53
Leukocyte Adhesion Deficiency 1 12 15
Lad1 12 25
Leukocyte Adhesion Deficiency 1 Variant; Lad1v 57
Leukocyte Adhesion Molecule Deficiency Type 1 25
Integrin Activation Deficiency Disease; Iadd 57
Leukocyte Adhesion Deficiency-1 Variant 59
Leucocyte Adhesion Deficiency Type 1 25
Lfa 1 Immunodeficiency 53
Lfa1 Immunodeficiency 12
Lad-1 Variant 59
Lad1 Variant 12
Lad-Iii 59
Lad 1 53
Lad-I 53
Lad 53

Characteristics:

Orphanet epidemiological data:

59
leukocyte adhesion deficiency type iii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
delayed separation of umbilical cord
delayed wound healing
can be treated by bone marrow transplantation


HPO:

32
leukocyte adhesion deficiency, type iii:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukocyte Adhesion Deficiency, Type Iii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99842Disease definitionLeukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.EpidemiologyLAD-I affects 1 individual per million.Clinical descriptionUsually the first signs occur in infancy or early childhood. Patients present recurrent, life-threatening bacterial infections of the skin, mouth, and respiratory tract. Delayed umbilical cord separation is common. Skin infections may evolve into large ulcers. Severe periodontitis is often present later in life and leads to early tooth loss. A lack of swelling, redness, heat, or pus is observed in the area of infection.EtiologyLAD-I is caused by mutations in the ITGB2 gene (21q22.3), encoding the beta-2-integrin, CD18, which is essential for firm adhesion of leukocytes to the endothelium. Severity of the disease correlates with the degree of CD18 deficiency.Diagnostic methodsDiagnosis is based on complete blood counts revealing neutrophilic leukocytosis. Flow cytometric analyses reveal reduced CD18 expression on leukocytes. Genetic analyses of mutations in the ITGB2 gene confirm the diagnosis.Differential diagnosisDifferential diagnoses include IRAK-4 deficiency, autosomal dominant hyper IgE syndrome, chronic granulomatous disease, other primary immunodeficiencies (see these terms) and a leukemoid reaction.Antenatal diagnosisAntenatal diagnosis is possible through biochemical or molecular analysis of chorionic villus cells or amniocytes in affected families for which the mutation has been identified. Flow cytometry can be performed at 20 weeks of gestation.Genetic counselingTransmission is autosomal recessive.Management and treatmentManagement should focus on controlling infections and includes antibiotics. Hematopoietic cell transplantation represents the only cure for LAD-I, but gene therapy may be available in the future.PrognosisPrognosis depends on the severity of the disease. Without hematopoietic stem cell transplantation, death in patients with severe LAD-I occurs from infection within the first 2 years of life, whereas patients with a moderate form of the disease have abetter chance of surviving into adulthood. Survival rate after bone marrow transplantation is 75%.Visit the Orphanet disease page for more resources.

MalaCards based summary : Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency type 1, is related to leukocyte adhesion deficiency, type i and congenital disorder of glycosylation, type iic, and has symptoms including petechiae of skin An important gene associated with Leukocyte Adhesion Deficiency, Type Iii is FERMT3 (Fermitin Family Member 3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Affiliated tissues include skin, bone and neutrophil, and related phenotypes are epistaxis and petechiae

Disease Ontology : 12 A leukocyte adhesion deficiency that has material basis in mutation of the KIND3 gene on chromosome 11q13.1.

Genetics Home Reference : 25 Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections.

OMIM : 57 Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). (612840)

UniProtKB/Swiss-Prot : 75 Leukocyte adhesion deficiency 3: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders.

Related Diseases for Leukocyte Adhesion Deficiency, Type Iii

Graphical network of the top 20 diseases related to Leukocyte Adhesion Deficiency, Type Iii:



Diseases related to Leukocyte Adhesion Deficiency, Type Iii

Symptoms & Phenotypes for Leukocyte Adhesion Deficiency, Type Iii

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Hematology:
anemia
bleeding tendency
defective platelet adhesion with normal platelet count

Head And Neck Nose:
epistaxis

Abdomen Gastrointestinal:
mucosal bleeding

Abdomen Liver:
hepatomegaly

Immunology:
leukocytosis
recurrent bacterial infections
fungal infections
defective neutrophil adhesion to endothelial cells

Skin Nails Hair Skin:
petechiae

Skeletal:
osteopetrosis (in severe cases)


Clinical features from OMIM:

612840

Human phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 occasional (7.5%) HP:0000421
2 petechiae 32 HP:0000967
3 hepatosplenomegaly 32 frequent (33%) HP:0001433
4 subcutaneous nodule 32 HP:0001482
5 recurrent skin infections 32 HP:0001581
6 splenomegaly 32 frequent (33%) HP:0001744
7 abnormal thrombocyte morphology 32 frequent (33%) HP:0001872
8 anemia 32 HP:0001903
9 leukocytosis 32 HP:0001974
10 extramedullary hematopoiesis 32 very rare (1%) HP:0001978
11 hepatomegaly 32 HP:0002240
12 recurrent bacterial infections 32 frequent (33%) HP:0002718
13 abnormality of the lymph nodes 32 HP:0002733
14 osteopetrosis 32 occasional (7.5%) HP:0011002
15 pain 32 HP:0012531
16 sepsis 32 HP:0100806

UMLS symptoms related to Leukocyte Adhesion Deficiency, Type Iii:


petechiae of skin

MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 F2R FERMT3 ITGA2B ITGB2 RAP1A RAPGEF3
2 hematopoietic system MP:0005397 9.76 RAPGEF3 RASGRP2 SELP F2R FERMT3 ITGA2B
3 homeostasis/metabolism MP:0005376 9.5 F2R FERMT3 ITGA2B ITGB2 RAPGEF3 RASGRP2
4 immune system MP:0005387 9.23 F2R FERMT3 ITGA2B ITGB2 RAP1A RAPGEF3

Drugs & Therapeutics for Leukocyte Adhesion Deficiency, Type Iii

Search Clinical Trials , NIH Clinical Center for Leukocyte Adhesion Deficiency, Type Iii

Genetic Tests for Leukocyte Adhesion Deficiency, Type Iii

Genetic tests related to Leukocyte Adhesion Deficiency, Type Iii:

# Genetic test Affiliating Genes
1 Leukocyte Adhesion Deficiency Type 1 29 ITGB2
2 Leukocyte Adhesion Deficiency, Type Iii 29 FERMT3

Anatomical Context for Leukocyte Adhesion Deficiency, Type Iii

MalaCards organs/tissues related to Leukocyte Adhesion Deficiency, Type Iii:

41
Skin, Bone, Neutrophil, Bone Marrow, Lymph Node, Endothelial

Publications for Leukocyte Adhesion Deficiency, Type Iii

Articles related to Leukocyte Adhesion Deficiency, Type Iii:

# Title Authors Year
1
Hematopoietic stem cell transplantation for the treatment of leukocyte adhesion deficiency type III. ( 28827066 )
2017
2
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3. ( 26359933 )
2015
3
Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. ( 25072369 )
2014
4
Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III. ( 24342549 )
2013
5
Mice lacking the signaling molecule CalDAG-GEFI represent a model for leukocyte adhesion deficiency type III. ( 17492052 )
2007

Variations for Leukocyte Adhesion Deficiency, Type Iii

ClinVar genetic disease variations for Leukocyte Adhesion Deficiency, Type Iii:

6
(show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 FERMT3 FERMT3, IVS13AS, A-G, -2 single nucleotide variant Pathogenic
2 FERMT3 NM_178443.2(FERMT3): c.48G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs121918296 GRCh37 Chromosome 11, 63974884: 63974884
3 FERMT3 NM_178443.2(FERMT3): c.48G> A (p.Trp16Ter) single nucleotide variant Pathogenic rs121918296 GRCh38 Chromosome 11, 64207412: 64207412
4 FERMT3 NM_178443.2(FERMT3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs121918297 GRCh37 Chromosome 11, 63990566: 63990566
5 FERMT3 NM_178443.2(FERMT3): c.1729C> T (p.Arg577Ter) single nucleotide variant Pathogenic rs121918297 GRCh38 Chromosome 11, 64223094: 64223094
6 FERMT3 NM_178443.2(FERMT3): c.687G> A (p.Trp229Ter) single nucleotide variant Pathogenic rs121918298 GRCh37 Chromosome 11, 63979120: 63979120
7 FERMT3 NM_178443.2(FERMT3): c.687G> A (p.Trp229Ter) single nucleotide variant Pathogenic rs121918298 GRCh38 Chromosome 11, 64211648: 64211648
8 FERMT3 NM_178443.2(FERMT3): c.1537C> T (p.Arg513Ter) single nucleotide variant Pathogenic rs121918295 GRCh37 Chromosome 11, 63988121: 63988121
9 FERMT3 NM_178443.2(FERMT3): c.1537C> T (p.Arg513Ter) single nucleotide variant Pathogenic rs121918295 GRCh38 Chromosome 11, 64220649: 64220649
10 FERMT3 FERMT3, GLY308ARG single nucleotide variant Pathogenic
11 FERMT3 FERMT3, 1-BP DEL, 1275T deletion Pathogenic
12 FERMT3 FERMT3, IVS2AS, A-C, -2 single nucleotide variant Pathogenic
13 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh37 Chromosome 21, 46323397: 46323397
14 ITGB2 NM_000211.4(ITGB2): c.382G> T (p.Asp128Tyr) single nucleotide variant Pathogenic rs137852615 GRCh38 Chromosome 21, 44903482: 44903482
15 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh37 Chromosome 21, 46321433: 46321433
16 ITGB2 NM_000211.4(ITGB2): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs179363873 GRCh38 Chromosome 21, 44901518: 44901518
17 ITGB2 NM_000211.4(ITGB2): c.1030G> T (p.Glu344Ter) single nucleotide variant Pathogenic rs483352816 GRCh37 Chromosome 21, 46314939: 46314939
18 ITGB2 NM_000211.4(ITGB2): c.1030G> T (p.Glu344Ter) single nucleotide variant Pathogenic rs483352816 GRCh38 Chromosome 21, 44895024: 44895024
19 ITGB2 NM_000211.4(ITGB2): c.1143delC (p.Tyr382Thrfs) deletion Pathogenic rs483352817 GRCh37 Chromosome 21, 46313400: 46313400
20 ITGB2 NM_000211.4(ITGB2): c.1143delC (p.Tyr382Thrfs) deletion Pathogenic rs483352817 GRCh38 Chromosome 21, 44893485: 44893485
21 ITGB2 NM_000211.4(ITGB2): c.1877+2T> C single nucleotide variant Pathogenic rs483352818 GRCh37 Chromosome 21, 46309189: 46309189
22 ITGB2 NM_000211.4(ITGB2): c.1877+2T> C single nucleotide variant Pathogenic rs483352818 GRCh38 Chromosome 21, 44889274: 44889274
23 ITGB2 NM_000211.4(ITGB2): c.1907delA (p.Lys636Argfs) deletion Pathogenic rs483352819 GRCh37 Chromosome 21, 46308781: 46308781
24 ITGB2 NM_000211.4(ITGB2): c.1907delA (p.Lys636Argfs) deletion Pathogenic rs483352819 GRCh38 Chromosome 21, 44888866: 44888866
25 ITGB2 NM_000211.4(ITGB2): c.576dupC (p.Asn193Glnfs) duplication Pathogenic rs483352813 GRCh37 Chromosome 21, 46321572: 46321572
26 ITGB2 NM_000211.4(ITGB2): c.576dupC (p.Asn193Glnfs) duplication Pathogenic rs483352813 GRCh38 Chromosome 21, 44901657: 44901657
27 ITGB2 NM_000211.4(ITGB2): c.706G> A (p.Gly236Arg) single nucleotide variant Likely pathogenic rs483352814 GRCh37 Chromosome 21, 46321442: 46321442
28 ITGB2 NM_000211.4(ITGB2): c.706G> A (p.Gly236Arg) single nucleotide variant Likely pathogenic rs483352814 GRCh38 Chromosome 21, 44901527: 44901527
29 ITGB2 NM_000211.4(ITGB2): c.843delC (p.Asn282Thrfs) deletion Pathogenic rs483352815 GRCh37 Chromosome 21, 46320289: 46320289
30 ITGB2 NM_000211.4(ITGB2): c.843delC (p.Asn282Thrfs) deletion Pathogenic rs483352815 GRCh38 Chromosome 21, 44900374: 44900374
31 ITGB2 NM_000211.4(ITGB2): c.897+1G> A single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234
32 ITGB2 NM_000211.4(ITGB2): c.897+1G> A single nucleotide variant Pathogenic rs201752283 GRCh38 Chromosome 21, 44900319: 44900319
33 ITGB2 NM_000211.4(ITGB2): c.897+1G> T single nucleotide variant Pathogenic rs201752283 GRCh37 Chromosome 21, 46320234: 46320234
34 ITGB2 NM_000211.4(ITGB2): c.897+1G> T single nucleotide variant Pathogenic rs201752283 GRCh38 Chromosome 21, 44900319: 44900319
35 FERMT3 NM_178443.2(FERMT3): c.1905C> T (p.Ile635=) single nucleotide variant Conflicting interpretations of pathogenicity rs142025489 GRCh37 Chromosome 11, 63990865: 63990865
36 FERMT3 NM_178443.2(FERMT3): c.1905C> T (p.Ile635=) single nucleotide variant Conflicting interpretations of pathogenicity rs142025489 GRCh38 Chromosome 11, 64223393: 64223393
37 FERMT3 NM_031471.5(FERMT3): c.1917G> A (p.Thr639=) single nucleotide variant Benign rs150686744 GRCh37 Chromosome 11, 63990889: 63990889
38 FERMT3 NM_031471.5(FERMT3): c.1917G> A (p.Thr639=) single nucleotide variant Benign rs150686744 GRCh38 Chromosome 11, 64223417: 64223417
39 FERMT3 NM_031471.5(FERMT3): c.159C> G (p.Ile53Met) single nucleotide variant Likely benign rs142815441 GRCh37 Chromosome 11, 63974995: 63974995
40 FERMT3 NM_031471.5(FERMT3): c.159C> G (p.Ile53Met) single nucleotide variant Likely benign rs142815441 GRCh38 Chromosome 11, 64207523: 64207523
41 FERMT3 NM_031471.5(FERMT3): c.130G> A (p.Gly44Arg) single nucleotide variant Benign rs149000560 GRCh37 Chromosome 11, 63974966: 63974966
42 FERMT3 NM_031471.5(FERMT3): c.130G> A (p.Gly44Arg) single nucleotide variant Benign rs149000560 GRCh38 Chromosome 11, 64207494: 64207494
43 FERMT3 NM_031471.5(FERMT3): c.405C> T (p.His135=) single nucleotide variant Benign rs78810429 GRCh37 Chromosome 11, 63978534: 63978534
44 FERMT3 NM_031471.5(FERMT3): c.405C> T (p.His135=) single nucleotide variant Benign rs78810429 GRCh38 Chromosome 11, 64211062: 64211062
45 ITGB2 NM_000211.4(ITGB2): c.1893C> T (p.Cys631=) single nucleotide variant Benign/Likely benign rs17004713 GRCh38 Chromosome 21, 44888880: 44888880
46 ITGB2 NM_000211.4(ITGB2): c.1893C> T (p.Cys631=) single nucleotide variant Benign/Likely benign rs17004713 GRCh37 Chromosome 21, 46308795: 46308795
47 ITGB2 NM_000211.4(ITGB2): c.1464G> A (p.Arg488=) single nucleotide variant Conflicting interpretations of pathogenicity rs202051683 GRCh38 Chromosome 21, 44890171: 44890171
48 ITGB2 NM_000211.4(ITGB2): c.1464G> A (p.Arg488=) single nucleotide variant Conflicting interpretations of pathogenicity rs202051683 GRCh37 Chromosome 21, 46310086: 46310086
49 ITGB2 NM_000211.4(ITGB2): c.1413-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs375743879 GRCh38 Chromosome 21, 44890230: 44890230
50 ITGB2 NM_000211.4(ITGB2): c.1413-8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs375743879 GRCh37 Chromosome 21, 46310145: 46310145

Expression for Leukocyte Adhesion Deficiency, Type Iii

Search GEO for disease gene expression data for Leukocyte Adhesion Deficiency, Type Iii.

Pathways for Leukocyte Adhesion Deficiency, Type Iii

Pathways related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 F2R ITGA2B ITGB2 RAP1A RAPGEF3 RASGRP2
2
Show member pathways
12.34 ITGB2 RAP1A RAPGEF3
3 12.3 F2R ITGA2B ITGB2
4
Show member pathways
12.3 F2R FERMT3 ITGA2B ITGB2 RAP1A RAPGEF3
5
Show member pathways
12.27 F2R ITGA2B ITGB2 RAP1A RAPGEF3 RASGRP2
6 12.22 ITGA2B ITGB2 RAP1A RAPGEF3
7
Show member pathways
11.99 F2R RAP1A RAPGEF3
8 11.81 ITGB2 NRXN2 SELP
9 11.72 FERMT3 ITGB2 RAP1A
10
Show member pathways
11.61 ITGA2B RAP1A RAPGEF3 RASGRP2
11 11.44 F2R FERMT3 ITGA2B RAP1A RASGRP2
12 11.31 ITGB2 SELP
13 11.28 RAP1A RAPGEF3 RASGRP2
14 11.26 F2R ITGA2B
15 11.23 ITGB2 SELP
16 11.21 ITGB2 SELP
17 11.21 ITGA2B ITGB2 RAP1A
18 10.64 RAP1A RAPGEF3 RASGRP2

GO Terms for Leukocyte Adhesion Deficiency, Type Iii

Cellular components related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.81 F2R FERMT3 ITGA2B ITGB2 NRXN2 RAP1A
2 plasma membrane GO:0005886 9.56 F2R ITGA2B ITGB2 NRXN2 RAP1A RAPGEF3
3 external side of plasma membrane GO:0009897 9.5 ITGA2B ITGB2 SELP
4 integrin complex GO:0008305 9.26 ITGA2B ITGB2
5 platelet alpha granule membrane GO:0031092 8.62 ITGA2B SELP

Biological processes related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of molecular function GO:0065009 9.67 NRXN2 RAPGEF3 RASGRP2
2 platelet degranulation GO:0002576 9.58 FERMT3 ITGA2B SELP
3 positive regulation of GTPase activity GO:0043547 9.56 F2R RAP1A RAPGEF3 RASGRP2
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.55 F2R SELP
5 regulation of insulin secretion GO:0050796 9.54 RAP1A RAPGEF3
6 small GTPase mediated signal transduction GO:0007264 9.54 RAP1A RAPGEF3 RASGRP2
7 cellular response to cAMP GO:0071320 9.52 RAP1A RAPGEF3
8 activation of MAPKK activity GO:0000186 9.51 F2R RAP1A
9 platelet aggregation GO:0070527 9.48 FERMT3 ITGA2B
10 establishment of endothelial barrier GO:0061028 9.46 RAP1A RAPGEF3
11 positive regulation of leukocyte migration GO:0002687 9.43 ITGA2B SELP
12 cell adhesion GO:0007155 9.35 FERMT3 ITGA2B ITGB2 NRXN2 SELP
13 integrin-mediated signaling pathway GO:0007229 9.33 FERMT3 ITGA2B ITGB2
14 Rap protein signal transduction GO:0032486 9.32 RAP1A RAPGEF3
15 leukocyte cell-cell adhesion GO:0007159 8.8 FERMT3 ITGB2 SELP

Molecular functions related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 8.96 ITGB2 NRXN2
2 Rap guanyl-nucleotide exchange factor activity GO:0017034 8.62 RAP1A RAPGEF3

Sources for Leukocyte Adhesion Deficiency, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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