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
Accession: DOID:0110912
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:24033266 PMID:25741868 PMID:28492532 PMID:19234463 More...
RGD:11352305
NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all