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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:leukocyte adhesion deficiency 3
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Accession:DOID:0110912 term browser browse the term
Definition:A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: IADD;   LAD1 variant;   LAD1V;   LAD3;   integrin activation deficiency disease;   leukocyte adhesion deficiency 1 variant;   leukocyte adhesion deficiency, type III
 primary_id: MESH:C567555
 alt_id: MIM:612840;   OMIA:001525
 xref: ORDO:99844



show annotations for term's descendants           Sort by:
leukocyte adhesion deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahnak AHNAK nucleoprotein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,966,640...9,054,299
Ensembl chr19:8,966,648...9,054,278
JBrowse link
G Arl2 ADP-ribosylation factor-like 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,184,419...6,191,167
Ensembl chr19:6,184,404...6,191,578
JBrowse link
G Asrgl1 asparaginase like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,089,083...9,112,930
Ensembl chr19:9,087,232...9,113,000
JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,291,508...6,312,332
Ensembl chr19:6,291,698...6,312,365
JBrowse link
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,471,178...7,515,974
Ensembl chr19:7,471,405...7,517,039
JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,897,740...8,904,600
Ensembl chr19:8,897,738...8,904,600
JBrowse link
G Bad BCL2-associated agonist of cell death ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
JBrowse link
G Batf2 basic leucine zipper transcription factor, ATF-like 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,214,424...6,222,506
Ensembl chr19:6,191,013...6,222,506
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
Ensembl chr 2:8,814,831...8,826,047
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927
JBrowse link
G Catsperz cation channel sperm associated auxiliary subunit zeta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,899,794...6,902,748
Ensembl chr19:6,899,739...6,902,748
JBrowse link
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811
JBrowse link
G Ccdc86 coiled-coil domain containing 86 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,918,845...10,926,630
Ensembl chr19:10,918,845...10,926,630
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,821,991...6,835,586
Ensembl chr19:6,821,991...6,835,579
JBrowse link
G Cd5 CD5 antigen ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,695,471...10,716,390
Ensembl chr19:10,694,480...10,716,366
JBrowse link
G Cd6 CD6 antigen ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,766,703...10,807,427
Ensembl chr19:10,766,705...10,807,422
JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,356,465...6,375,682
Ensembl chr19:6,356,486...6,375,682
JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,135,127...6,141,803
Ensembl chr19:6,135,013...6,141,807
JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1, CNS ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,641,369...8,660,970
Ensembl chr19:8,641,153...8,660,951
JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,192,523...7,194,981
Ensembl chr19:7,192,518...7,194,981
JBrowse link
G Cpsf7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,502,594...10,525,099
Ensembl chr19:10,502,630...10,525,017
JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,554,521...10,574,196
Ensembl chr19:10,554,536...10,573,325
JBrowse link
G Dagla diacylglycerol lipase, alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,222,629...10,282,323
Ensembl chr19:10,222,629...10,282,241
JBrowse link
G Ddb1 damage specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,582,961...10,607,186
Ensembl chr19:10,582,691...10,607,183
JBrowse link
G Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,965,279...6,969,954
Ensembl chr19:6,965,279...6,969,940
JBrowse link
G Dtx4 deltex 4, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,443,700...12,479,509
Ensembl chr19:12,443,702...12,478,818
JBrowse link
G Eef1g eukaryotic translation elongation factor 1 gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,944,405...8,955,544
Ensembl chr19:8,944,405...8,955,843
JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126
JBrowse link
G Eml3 echinoderm microtubule associated protein like 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,904,584...8,918,946
Ensembl chr19:8,906,916...8,918,946
JBrowse link
G Esrra estrogen related receptor, alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208
JBrowse link
G Fads1 fatty acid desaturase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,160,245...10,174,238
Ensembl chr19:10,160,252...10,174,241
JBrowse link
G Fads2 fatty acid desaturase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,040,129...10,078,867
Ensembl chr19:10,040,129...10,079,110
JBrowse link
G Fads3 fatty acid desaturase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,018,189...10,037,477
Ensembl chr19:10,018,933...10,037,474
JBrowse link
G Fam111a family with sequence similarity 111, member A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,550,874...12,567,133
Ensembl chr19:12,523,104...12,567,132
JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,107,977...6,109,554
Ensembl chr19:6,107,874...6,109,554
JBrowse link
G Fen1 flap structure specific endonuclease 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,176,496...10,181,757
Ensembl chr19:10,176,496...10,181,533
JBrowse link
G Fermt3 fermitin family member 3 ISO
IAGP
DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human)
OMIM:612840
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
OMIM
MouseDO
CTD
ClinVar
RGD
PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... RGD:11352305 NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
JBrowse link
G Fkbp2 FK506 binding protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,955,105...6,957,832
Ensembl chr19:6,955,109...6,957,869
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,064,829...7,143,548
Ensembl chr19:7,069,366...7,083,094
JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462
JBrowse link
G Ganab alpha glucosidase 2 alpha neutral subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,875,440...8,894,098
Ensembl chr19:8,875,435...8,894,036
JBrowse link
G Gm23389 predicted gene, 23389 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:94,543,361...94,543,429
Ensembl chr 1:94,543,361...94,543,429
JBrowse link
G Gm24452 predicted gene, 24452 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,701,896...8,701,965
Ensembl chr19:8,701,895...8,701,966
JBrowse link
G Gm25855 predicted gene, 25855 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,701,357...8,701,428
Ensembl chr19:8,701,357...8,701,428
JBrowse link
G Gm25894 predicted gene, 25894 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,701,615...8,701,689
Ensembl chr19:8,701,615...8,701,689
JBrowse link
G Gm38656 predicted gene, 38656 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,162,589...9,164,383 JBrowse link
G Gng3 guanine nucleotide binding protein (G protein), gamma 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,814,293...8,816,610
Ensembl chr19:8,814,297...8,816,558
JBrowse link
G Gpha2 glycoprotein hormone alpha 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,276,431...6,277,798
Ensembl chr19:6,276,410...6,277,798
JBrowse link
G Gpr137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,915,425...6,919,818
Ensembl chr19:6,915,425...6,919,848
JBrowse link
G Hnrnpul2 heterogeneous nuclear ribonucleoprotein U-like 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,796,765...8,811,507
Ensembl chr19:8,797,374...8,811,507
JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,849,659...9,876,853
Ensembl chr19:9,849,660...9,876,915
JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,870,351...8,875,254
Ensembl chr19:8,870,369...8,875,252
JBrowse link
G Itgb2 integrin beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:25741868 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
JBrowse link
G Kcnk4 potassium channel, subfamily K, member 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,903,030...6,912,261
Ensembl chr19:6,901,334...6,911,883
JBrowse link
G Lbhd1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,861,242...8,868,123
Ensembl chr19:8,861,096...8,869,991
JBrowse link
G Lgals12 lectin, galactose binding, soluble 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,574,021...7,584,601
Ensembl chr19:7,574,025...7,584,558
JBrowse link
G Lrrc10b leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,432,735...10,434,811
Ensembl chr19:10,432,735...10,434,837
JBrowse link
G Lrrn4cl LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,828,132...8,831,273
Ensembl chr19:8,828,132...8,831,273
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,034,065...7,175,427
Ensembl chr19:7,034,178...7,175,422
JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,234,358...6,274,349
Ensembl chr19:6,234,418...6,274,255
JBrowse link
G Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,391,023...6,405,649
Ensembl chr19:6,391,165...6,405,645
JBrowse link
G Mark2 MAP/microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962
JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,314,673...6,314,758
Ensembl chr19:6,314,673...6,314,758
JBrowse link
G Mpeg1 macrophage expressed gene 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,438,134...12,442,649
Ensembl chr19:12,438,143...12,442,649
JBrowse link
G Mrpl16 mitochondrial ribosomal protein L16 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,747,779...11,752,320
Ensembl chr19:11,747,755...11,752,324
JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,103,660...6,107,785
Ensembl chr19:6,103,652...6,107,815
JBrowse link
G Ms4a1 membrane-spanning 4-domains, subfamily A, member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,227,043...11,243,513
Ensembl chr19:11,227,039...11,243,605
JBrowse link
G Ms4a10 membrane-spanning 4-domains, subfamily A, member 10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,939,653...10,952,088
Ensembl chr19:10,939,657...10,952,034
JBrowse link
G Ms4a12 membrane-spanning 4-domains, subfamily A, member 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,191,392...11,209,846
Ensembl chr19:11,191,446...11,209,812
JBrowse link
G Ms4a13 membrane-spanning 4-domains, subfamily A, member 13 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,146,782...11,174,101
Ensembl chr19:11,146,782...11,174,101
JBrowse link
G Ms4a14 membrane-spanning 4-domains, subfamily A, member 14 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,278,613...11,293,239
Ensembl chr19:11,278,613...11,291,818
JBrowse link
G Ms4a15 membrane-spanning 4-domains, subfamily A, member 15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,955,667...10,970,614
Ensembl chr19:10,955,671...10,970,614
JBrowse link
G Ms4a18 membrane-spanning 4-domains, subfamily A, member 18 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,974,388...10,995,390
Ensembl chr19:10,974,389...10,995,395
JBrowse link
G Ms4a2 membrane-spanning 4-domains, subfamily A, member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,592,881...11,601,154
Ensembl chr19:11,592,887...11,601,083
JBrowse link
G Ms4a3 membrane-spanning 4-domains, subfamily A, member 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,606,863...11,618,215
Ensembl chr19:11,606,860...11,618,215
JBrowse link
G Ms4a4a membrane-spanning 4-domains, subfamily A, member 4A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,352,827...11,370,682
Ensembl chr19:11,352,887...11,370,154
JBrowse link
G Ms4a5 membrane-spanning 4-domains, subfamily A, member 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,251,514...11,261,259
Ensembl chr19:11,250,602...11,261,237
JBrowse link
G Ms4a6c membrane-spanning 4-domains, subfamily A, member 6C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,446,718...11,464,433
Ensembl chr19:11,446,730...11,459,556
JBrowse link
G Ms4a7 membrane-spanning 4-domains, subfamily A, member 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,298,403...11,313,510
Ensembl chr19:11,298,403...11,313,510
JBrowse link
G Ms4a8a membrane-spanning 4-domains, subfamily A, member 8A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,044,835...11,058,467
Ensembl chr19:11,044,835...11,058,466
JBrowse link
G Mta2 metastasis-associated gene family, member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,919,239...8,929,659
Ensembl chr19:8,919,239...8,929,667
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112
JBrowse link
G Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,203,033...7,218,587
Ensembl chr19:7,203,033...7,218,548
JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,155,811...6,166,019
Ensembl chr19:6,155,812...6,165,822
JBrowse link
G Nrxn2 neurexin II ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,468,786...6,583,247
Ensembl chr19:6,468,761...6,594,199
JBrowse link
G Nudt22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,970,387...6,973,471
Ensembl chr19:6,970,386...6,973,485
JBrowse link
G Nxf1 nuclear RNA export factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,734,467...8,748,274
Ensembl chr19:8,734,437...8,748,286
JBrowse link
G Oosp2 oocyte secreted protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,624,648...11,637,923
Ensembl chr19:11,624,643...11,637,923
JBrowse link
G Or10v1 olfactory receptor family 10 subfamily V member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,873,387...11,874,316
Ensembl chr19:11,863,929...11,875,443
JBrowse link
G Or4d10 olfactory receptor family 4 subfamily D member 10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,051,059...12,051,994
Ensembl chr19:12,050,598...12,055,095
JBrowse link
G Or4d10b olfactory receptor family 4 subfamily D member 10B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,036,173...12,037,114
Ensembl chr19:12,035,988...12,040,046
JBrowse link
G Or4d11 olfactory receptor family 4 subfamily D member 11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,013,172...12,014,104
Ensembl chr19:12,009,151...12,018,681
JBrowse link
G Or4d6 olfactory receptor family 4 subfamily D member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,085,964...12,093,192
Ensembl chr19:12,085,080...12,093,261
JBrowse link
G Or5a1 olfactory receptor family 5 subfamily A member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,097,085...12,098,038
Ensembl chr19:12,095,360...12,100,567
JBrowse link
G Or5a21 olfactory receptor family 5 subfamily A member 21 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,310,259...12,311,218
Ensembl chr19:12,306,786...12,313,274
JBrowse link
G Or5an9 olfactory receptor family 5 subfamily AN member 9 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:12,186,932...12,187,870
Ensembl chr19:12,177,998...12,189,555
JBrowse link
G Osbp oxysterol binding protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,943,208...11,971,478
Ensembl chr19:11,943,305...11,971,476
JBrowse link
G Otub1 OTU domain, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
JBrowse link
G Patl1 protein associated with topoisomerase II homolog 1 (yeast) ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,889,728...11,922,462
Ensembl chr19:11,889,763...11,922,455
JBrowse link
G Pga5 pepsinogen 5, group I ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,646,321...10,655,435
Ensembl chr19:10,646,320...10,655,435
JBrowse link
G Plaat3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,534,824...7,565,914
Ensembl chr19:7,534,824...7,565,910
JBrowse link
G Plaat5 phospholipase A and acyltransferase 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,589,902...7,618,405
Ensembl chr19:7,589,906...7,617,007
JBrowse link
G Plcb3 phospholipase C, beta 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,931,081...6,951,738
Ensembl chr19:6,929,693...6,953,838
JBrowse link
G Polr2g polymerase (RNA) II (DNA directed) polypeptide G ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,770,493...8,775,921
Ensembl chr19:8,770,491...8,775,941
JBrowse link
G Ppp1r14b protein phosphatase 1, regulatory inhibitor subunit 14B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,952,416...6,954,692
Ensembl chr19:6,952,336...6,954,692
JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,277,795...6,286,294
Ensembl chr19:6,277,795...6,285,902
JBrowse link
G Prdx5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,884,065...6,887,474
Ensembl chr19:6,884,065...6,887,474
JBrowse link
G Prpf19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,872,595...10,886,923
Ensembl chr19:10,872,595...10,886,923
JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,901,883...10,919,875
Ensembl chr19:10,914,524...10,919,875
JBrowse link
G Pygm muscle glycogen phosphorylase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,434,438...6,448,494
Ensembl chr19:6,434,429...6,448,489
JBrowse link
G Rab3il1 RAB3A interacting protein (rabin3)-like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,979,033...10,015,744
Ensembl chr19:9,979,033...10,015,744
JBrowse link
G Rasgrp2 RAS, guanyl releasing protein 2 IAGP
ISO
OMIM:612840
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3
MouseDO
ClinVar
PMID:28492532 NCBI chr19:6,449,038...6,465,243
Ensembl chr19:6,449,370...6,465,246
JBrowse link
G Rcor2 REST corepressor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,244,759...7,252,590
Ensembl chr19:7,244,690...7,252,590
JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720
JBrowse link
G Rps6ka4 ribosomal protein S6 kinase, polypeptide 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,806,573...6,819,513
Ensembl chr19:6,806,578...6,818,004
JBrowse link
G Rtn3 reticulon 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,403,260...7,460,656
Ensembl chr19:7,403,266...7,460,646
JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,166,025...6,168,689
Ensembl chr19:6,166,030...6,168,680
JBrowse link
G Saxo4 stabilizer of axonemal microtubules 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,451,599...10,463,826
Ensembl chr19:10,451,599...10,460,292
JBrowse link
G Scgb1a1 secretoglobin, family 1A, member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,061,006...9,065,320
Ensembl chr19:9,061,000...9,065,322
JBrowse link
G Scgb2a2 secretoglobin, family 2A, member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:9,824,922...9,829,564
Ensembl chr19:9,824,926...9,830,172
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,477,876...10,502,573
Ensembl chr19:10,477,898...10,503,506
JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,413,952...6,428,060
Ensembl chr19:6,413,720...6,428,060
JBrowse link
G Slc15a3 solute carrier family 15, member 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,819,908...10,835,279
Ensembl chr19:10,817,091...10,836,726
JBrowse link
G Slc22a12 solute carrier family 22 (organic anion/cation transporter), member 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,585,884...6,593,100
Ensembl chr19:6,585,875...6,593,062
JBrowse link
G Slc22a19 solute carrier family 22 (organic anion transporter), member 19 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,650,440...7,688,675
Ensembl chr19:7,650,426...7,688,675
JBrowse link
G Slc22a6 solute carrier family 22 (organic anion transporter), member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,595,360...8,605,663
Ensembl chr19:8,595,403...8,605,663
JBrowse link
G Slc22a8 solute carrier family 22 (organic anion transporter), member 8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,568,576...8,589,199
Ensembl chr19:8,568,618...8,589,199
JBrowse link
G Slc3a2 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733
JBrowse link
G Snord22 small nucleolar RNA, C/D box 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,703,230...8,703,355
Ensembl chr19:8,703,230...8,703,355
JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,169,429...6,182,446
Ensembl chr19:6,169,429...6,178,334
JBrowse link
G Spindoc spindlin interactor and repressor of chromatin binding ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,333,828...7,364,491
Ensembl chr19:7,331,443...7,360,359
JBrowse link
G Stip1 stress-induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,998,064...7,017,394
Ensembl chr19:6,998,070...7,017,335
JBrowse link
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:11,752,482...11,798,933
Ensembl chr19:11,752,482...11,796,767
JBrowse link
G Stx5a syntaxin 5A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,718,788...8,733,006
Ensembl chr19:8,718,777...8,733,433
JBrowse link
G Syt7 synaptotagmin VII ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,366,142...10,430,545
Ensembl chr19:10,366,454...10,430,544
JBrowse link
G Syvn1 synovial apoptosis inhibitor 1, synoviolin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,096,586...6,103,748
Ensembl chr19:6,096,606...6,103,742
JBrowse link
G Taf6l TATA-box binding protein associated factor 6 like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,751,718...8,763,781
Ensembl chr19:8,751,851...8,763,781
JBrowse link
G Tkfc triokinase, FMN cyclase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,565,153...10,583,257
Ensembl chr19:10,565,155...10,583,018
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,112,851...6,117,880
Ensembl chr19:6,112,851...6,118,403
JBrowse link
G Tmem109 transmembrane protein 109 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,848,021...10,859,107
Ensembl chr19:10,848,024...10,859,365
JBrowse link
G Tmem132a transmembrane protein 132A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,835,193...10,847,569
Ensembl chr19:10,835,186...10,847,304
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,547,842...10,554,765
Ensembl chr19:10,547,842...10,554,726
JBrowse link
G Tmem179b transmembrane protein 179B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,749,886...8,751,831
Ensembl chr19:8,749,889...8,751,831
JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602
JBrowse link
G Tmem223 transmembrane protein 223 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,748,360...8,749,839
Ensembl chr19:8,748,360...8,749,839
JBrowse link
G Tmem258 transmembrane protein 258 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,181,566...10,185,188
Ensembl chr19:10,181,378...10,185,188
JBrowse link
G Trmt112 tRNA methyltransferase 11-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,887,066...6,888,396
Ensembl chr19:6,887,066...6,888,417
JBrowse link
G Trpt1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,970,046...6,977,689
Ensembl chr19:6,973,499...6,976,414
JBrowse link
G Ttc9c tetratricopeptide repeat domain 9C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,786,430...8,797,270
Ensembl chr19:8,786,439...8,796,697
JBrowse link
G Tut1 terminal uridylyl transferase 1, U6 snRNA-specific ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,931,199...8,943,572
Ensembl chr19:8,931,211...8,943,574
JBrowse link
G Ubxn1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,848,912...8,853,030
Ensembl chr19:8,848,860...8,853,227
JBrowse link
G Uqcc3 ubiquinol-cytochrome c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,857,378...8,858,297
Ensembl chr19:8,857,378...8,858,287
JBrowse link
G Vegfb vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
JBrowse link
G Vps37c vacuolar protein sorting 37C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,666,095...10,691,992
Ensembl chr19:10,666,099...10,691,991
JBrowse link
G Vps51 VPS51 GARP complex subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,117,872...6,127,217
Ensembl chr19:6,117,872...6,127,261
JBrowse link
G Vwce von Willebrand factor C and EGF domains ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,611,582...10,643,577
Ensembl chr19:10,611,577...10,643,577
JBrowse link
G Wdr74 WD repeat domain 74 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,713,159...8,717,988
Ensembl chr19:8,713,191...8,717,988
JBrowse link
G Zbtb3 zinc finger and BTB domain containing 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:8,779,853...8,783,035
Ensembl chr19:8,779,919...8,782,210
JBrowse link
G Zfpl1 zinc finger like protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,130,792...6,134,961
Ensembl chr19:6,130,792...6,134,986
JBrowse link
G Zfta zinc finger translocation associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:7,394,981...7,403,273
Ensembl chr19:7,394,990...7,403,269
JBrowse link
G Znhit2 zinc finger, HIT domain containing 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:6,111,237...6,112,498
Ensembl chr19:6,111,222...6,112,502
JBrowse link
G Zp1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr19:10,891,660...10,897,965
Ensembl chr19:10,891,651...10,897,996
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16187
    disease of anatomical entity 15804
      hematopoietic system disease 3468
        leukocyte disease 1325
          leukocyte adhesion deficiency 167
            leukocyte adhesion deficiency 3 165
Path 2
Term Annotations click to browse term
  disease 16187
    Developmental Disease 13929
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12951
        genetic disease 12641
          monogenic disease 10693
            autosomal genetic disease 9884
              autosomal recessive disease 6914
                leukocyte adhesion deficiency 167
                  leukocyte adhesion deficiency 3 165
paths to the root