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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

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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 chr 1:11,352,848...11,384,944 JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,212,903...9,219,985
Ensembl chr 1:9,213,123...9,219,927 		JBrowse link
G ASRGL1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,503,137...11,529,745
Ensembl chr 1:11,502,578...11,529,598 		JBrowse link
G ATG2A autophagy related 2A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,316,567...9,339,244
Ensembl chr 1:9,316,675...9,339,265 		JBrowse link
G ATL3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,569,052...10,611,518
Ensembl chr 1:10,569,235...10,611,323 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,282,414...11,289,640
Ensembl chr 1:11,282,601...11,289,743 		JBrowse link
G BAD BCL2 associated agonist of cell death ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432 		JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,220,087...9,248,964
Ensembl chr 1:9,239,938...9,248,971 		JBrowse link
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,841,052...11,857,694
Ensembl chr 1:11,837,837...11,857,233 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,198,033...11,216,709
Ensembl chr 1:11,200,356...11,216,622 		JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804 		JBrowse link
G CATSPERZ catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,930,186...9,934,024
Ensembl chr 1:9,930,312...9,933,909 		JBrowse link
G CBLIF cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,833,762...13,849,727
Ensembl chr 1:13,834,330...13,849,516 		JBrowse link
G CCDC86 coiled-coil domain containing 86 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,994,892...13,004,134
Ensembl chr 1:12,992,953...13,004,029 		JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532
G CD5 CD5 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,720,004...12,747,637
Ensembl chr 1:12,719,333...12,746,960 		JBrowse link
G CD6 CD6 molecule ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,827,238...12,878,304
Ensembl chr 1:12,828,285...12,877,704 		JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,390,874...9,411,503
Ensembl chr 1:9,390,825...9,412,697 		JBrowse link
G CDCA5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,151,503...9,157,412
Ensembl chr 1:9,151,712...9,157,456 		JBrowse link
G CHRM1 cholinergic receptor muscarinic 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,978,464...10,991,650
Ensembl chr 1:10,989,207...10,990,589 		JBrowse link
G CPSF7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,417,452...12,445,984
Ensembl chr 1:12,417,490...12,446,527 		JBrowse link
G CSKMT citrate synthase lysine methyltransferase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,239,715...11,241,457
Ensembl chr 1:11,239,735...11,241,442 		JBrowse link
G DAGLA diacylglycerol lipase alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,110,100...12,175,935
Ensembl chr 1:12,108,810...12,136,105 		JBrowse link
G DDB1 damage specific DNA binding protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,508,712...12,543,127
Ensembl chr 1:12,508,443...12,544,913 		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 chr 1:10,001,620...10,005,952
Ensembl chr 1:10,001,871...10,005,237 		JBrowse link
G DTX4 deltex E3 ubiquitin ligase 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,354,752...14,390,630
Ensembl chr 1:14,358,001...14,390,239 		JBrowse link
G EEF1G eukaryotic translation elongation factor 1 gamma ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,326,977...11,339,373
Ensembl chr 1:11,326,969...11,339,439 		JBrowse link
G EHD1 EH domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,356,128...9,382,204
Ensembl chr 1:9,356,177...9,382,832 		JBrowse link
G EML3 EMAP like 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,292,181...11,302,723
Ensembl chr 1:11,292,202...11,302,472 		JBrowse link
G ESRRA estrogen related receptor alpha ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,918,741...9,929,481
Ensembl chr 1:9,917,436...9,929,450 		JBrowse link
G FADS1 fatty acid desaturase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,037,173...12,051,907
Ensembl chr 1:12,037,513...12,055,159 		JBrowse link
G FADS2 fatty acid desaturase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,934,352...11,978,355
Ensembl chr 1:11,934,270...11,974,030 		JBrowse link
G FADS3 fatty acid desaturase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,910,344...11,928,634
Ensembl chr 1:11,910,318...11,928,682 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,405,991...14,412,170 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 chr 1:9,106,708...9,108,284
Ensembl chr 1:9,106,252...9,109,304 		JBrowse link
G FEN1 flap structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,057,620...12,062,185 JBrowse link
G FERMT3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 OMIM
ClinVar		 PMID:9536098 PMID:12511588 PMID:16199547 PMID:17576681 PMID:18779414 More... NCBI chr 1:10,012,007...10,031,177
Ensembl chr 1:10,009,626...10,031,209 		JBrowse link
G FKBP2 FKBP prolyl isomerase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 Ensembl chr 1:9,992,149...9,994,012 JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,120,931...10,205,351
Ensembl chr 1:10,121,823...10,123,844 		JBrowse link
G FTH1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,837,533...11,840,926 JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,257,867...11,279,534
Ensembl chr 1:11,257,935...11,281,111 		JBrowse link
G GNG3 G protein subunit gamma 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,198,347...11,199,952
Ensembl chr 1:11,198,738...11,199,242 		JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,296,826...9,299,612
Ensembl chr 1:9,298,621...9,299,309 		JBrowse link
G GPR137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,944,971...9,949,623
Ensembl chr 1:9,944,579...9,949,624 		JBrowse link
G HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,179,711...11,194,995
Ensembl chr 1:11,179,728...11,195,178 		JBrowse link
G INCENP inner centromere protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,695,803...11,725,633
Ensembl chr 1:11,692,559...11,720,940 		JBrowse link
G INTS5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,251,920...11,257,686
Ensembl chr 1:11,251,991...11,257,520 		JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:25741868 NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,934,174...9,942,815
Ensembl chr 1:9,934,597...9,941,609 		JBrowse link
G LBHD1 LBH domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,236,763...11,239,586 JBrowse link
G LGALS12 galectin 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,741,778...10,762,043
Ensembl chr 1:10,745,373...10,761,684 		JBrowse link
G LOC103233227 ribosomal protein S6 kinase alpha-4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,860,403...9,874,440
Ensembl chr 1:9,860,290...9,874,374 		JBrowse link
G LOC103233475 cytochrome c oxidase subunit 8A, mitochondrial ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,269,020...10,271,484
Ensembl chr 1:10,269,021...10,271,175 		JBrowse link
G LOC103233987 ubiquinol-cytochrome-c reductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,234,810...11,235,569
Ensembl chr 1:11,235,023...11,235,492 		JBrowse link
G LOC103234484 cytochrome b ascorbate-dependent protein 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,480,222...12,493,219
Ensembl chr 1:12,484,551...12,491,755 		JBrowse link
G LOC103234769 membrane-spanning 4-domains subfamily A member 6A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,619,459...13,631,727
Ensembl chr 1:13,619,567...13,631,583 		JBrowse link
G LOC103234902 olfactory receptor 4D10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,114,798...14,117,607
Ensembl chr 1:14,116,041...14,116,958 		JBrowse link
G LOC103234907 olfactory receptor 4D11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,103,113...14,105,098
Ensembl chr 1:14,103,197...14,104,298 		JBrowse link
G LOC103234916 olfactory receptor 4D9 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,087,060...14,122,985
Ensembl chr 1:14,087,468...14,088,409 		JBrowse link
G LOC103234928 olfactory receptor 4D6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,132,336...14,135,045 JBrowse link
G LOC103234933 olfactory receptor 5A1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,148,842...14,150,318
Ensembl chr 1:14,149,074...14,150,021 		JBrowse link
G LOC103234938 olfactory receptor 5A2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,169,497...14,171,399
Ensembl chr 1:14,169,801...14,170,775 		JBrowse link
G LRRC10B leucine rich repeat containing 10B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,335,838...12,338,048
Ensembl chr 1:12,336,980...12,337,855 		JBrowse link
G LRRN4CL LRRN4 C-terminal like ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,216,797...11,219,438
Ensembl chr 1:11,218,434...11,219,150 		JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,072,238...10,247,121
Ensembl chr 1:10,072,263...10,250,203 		JBrowse link
G MAJIN membrane anchored junction protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,260,903...9,295,888
Ensembl chr 1:9,275,234...9,295,590 		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 chr 1:9,437,953...9,449,539
Ensembl chr 1:9,437,962...9,451,818 		JBrowse link
G MARK2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,336,690...10,410,539
Ensembl chr 1:10,336,639...10,409,951 		JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,423,885...9,431,123
Ensembl chr 1:9,423,917...9,431,104 		JBrowse link
G MRPL16 mitochondrial ribosomal protein L16 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,860,997...13,865,714
Ensembl chr 1:13,861,207...13,865,500 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,102,593...9,106,600 JBrowse link
G MS4A1 membrane spanning 4-domains A1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,343,647...13,358,639
Ensembl chr 1:13,345,253...13,358,547 		JBrowse link
G MS4A10 membrane spanning 4-domains A10 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,029,154...13,051,109
Ensembl chr 1:13,036,412...13,045,225 		JBrowse link
G MS4A12 membrane spanning 4-domains A12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,310,568...13,326,493
Ensembl chr 1:13,311,212...13,326,211 		JBrowse link
G MS4A13 membrane spanning 4-domains A13 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,281,867...13,306,736
Ensembl chr 1:13,282,022...13,299,227 		JBrowse link
G MS4A14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,384,442...13,408,540 JBrowse link
G MS4A15 membrane spanning 4-domains A15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,061,545...13,073,392
Ensembl chr 1:13,061,584...13,073,280 		JBrowse link
G MS4A18 membrane spanning 4-domains A18 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,088,276...13,110,747
Ensembl chr 1:13,088,942...13,105,243 		JBrowse link
G MS4A2 membrane spanning 4-domains A2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,657,842...13,666,314
Ensembl chr 1:13,654,696...13,665,925 		JBrowse link
G MS4A5 membrane spanning 4-domains A5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,364,914...13,377,851
Ensembl chr 1:13,364,950...13,377,446 		JBrowse link
G MS4A7 membrane spanning 4-domains A7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,410,442...13,427,179
Ensembl chr 1:13,409,831...13,427,085 		JBrowse link
G MS4A8 membrane spanning 4-domains A8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,125,146...13,140,500
Ensembl chr 1:13,123,461...13,140,309 		JBrowse link
G MTA2 metastasis associated 1 family member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,303,145...11,311,792
Ensembl chr 1:11,303,494...11,311,379 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,066,277...12,103,091 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 chr 1:10,289,015...10,307,909
Ensembl chr 1:10,288,266...10,307,932 		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 chr 1:9,175,615...9,189,586
Ensembl chr 1:9,175,499...9,193,142 		JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,522,501...9,629,799
Ensembl chr 1:9,522,778...9,629,828 		JBrowse link
G NUDT22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,006,096...10,009,529
Ensembl chr 1:10,006,122...10,009,514 		JBrowse link
G NXF1 nuclear RNA export factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,096,289...11,111,186
Ensembl chr 1:11,096,323...11,111,632 		JBrowse link
G OOSP2 oocyte secreted protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,693,512...13,702,608 JBrowse link
G OSBP oxysterol binding protein ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:14,009,735...14,053,232
Ensembl chr 1:14,010,020...14,051,605 		JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,247,260...10,271,026 JBrowse link
G PATL1 PAT1 homolog 1, processing body mRNA decay factor ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,955,730...13,989,364
Ensembl chr 1:13,957,050...13,988,488 		JBrowse link
G PLAAT2 phospholipase A and acyltransferase 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,674,174...10,690,323
Ensembl chr 1:10,678,050...10,690,129 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,632,342...10,660,757 JBrowse link
G PLAAT4 phospholipase A and acyltransferase 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,695,127...10,704,564
Ensembl chr 1:10,692,839...10,704,649 		JBrowse link
G PLAAT5 phospholipase A and acyltransferase 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,774,797...10,805,148
Ensembl chr 1:10,775,400...10,804,423 		JBrowse link
G PLCB3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,964,850...9,982,573
Ensembl chr 1:9,966,618...9,982,317 		JBrowse link
G POLR2G RNA polymerase II subunit G ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,140,897...11,150,879
Ensembl chr 1:11,140,867...11,150,882 		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 chr 1:9,989,540...9,991,940
Ensembl chr 1:9,989,030...9,992,088 		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 chr 1:9,299,609...9,309,357
Ensembl chr 1:9,299,160...9,309,335 		JBrowse link
G PRDX5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,912,947...9,917,439
Ensembl chr 1:9,912,898...9,917,361 		JBrowse link
G PRPF19 pre-mRNA processing factor 19 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,942,238...12,958,853
Ensembl chr 1:12,942,213...12,959,947 		JBrowse link
G PTGDR2 prostaglandin D2 receptor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,989,750...12,994,979
Ensembl chr 1:12,992,188...12,993,378 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,474,539...9,490,612
Ensembl chr 1:9,475,622...9,491,500 		JBrowse link
G RAB3IL1 RAB3A interacting protein like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,861,197...11,904,612
Ensembl chr 1:11,893,661...11,904,616 		JBrowse link
G RASGRP2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,483,557...9,508,920
Ensembl chr 1:9,492,624...9,508,912 		JBrowse link
G RCOR2 REST corepressor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,330,137...10,336,485
Ensembl chr 1:10,330,387...10,336,469 		JBrowse link
G ROM1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,289,819...11,292,200
Ensembl chr 1:11,289,818...11,291,890 		JBrowse link
G RTN3 reticulon 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,485,943...10,559,725 JBrowse link
G SAC3D1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,189,576...9,193,737 JBrowse link
G SAXO4 stabilizer of axonemal microtubules 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,363,484...12,373,223
Ensembl chr 1:12,363,843...12,372,272 		JBrowse link
G SCGB1A1 secretoglobin family 1A member 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,470,091...11,474,915
Ensembl chr 1:11,470,195...11,474,149 		JBrowse link
G SCGB1D2 secretoglobin family 1D member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,628,868...11,633,617
Ensembl chr 1:11,628,983...11,632,703 		JBrowse link
G SCGB1D4 secretoglobin family 1D member 4 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,575,621...11,579,494 JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,401,164...12,417,389
Ensembl chr 1:12,398,920...12,417,383 		JBrowse link
G SF1 splicing factor 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,456,524...9,470,920
Ensembl chr 1:9,456,971...9,472,396 		JBrowse link
G SLC15A3 solute carrier family 15 member 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,896,612...12,910,740
Ensembl chr 1:12,895,982...12,912,214 		JBrowse link
G SLC22A11 solute carrier family 22 member 11 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,664,015...9,680,559
Ensembl chr 1:9,662,327...9,679,813 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,633,589...9,644,519
Ensembl chr 1:9,632,645...9,643,664 		JBrowse link
G SLC22A6 solute carrier family 22 member 6 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,918,081...10,926,790
Ensembl chr 1:10,918,770...10,925,983 		JBrowse link
G SLC22A8 solute carrier family 22 member 8 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,885,895...10,909,739
Ensembl chr 1:10,886,690...10,910,546 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,011,351...11,050,494
Ensembl chr 1:11,008,120...11,050,298 		JBrowse link
G SNX15 sorting nexin 15 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,193,821...9,206,079
Ensembl chr 1:9,193,646...9,206,045 		JBrowse link
G SPDYC speedy/RINGO cell cycle regulator family member C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,057,110...9,093,558 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 chr 1:10,422,142...10,437,460
Ensembl chr 1:10,428,432...10,437,287 		JBrowse link
G STIP1 stress induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,033,317...10,052,406 JBrowse link
G STX3 syntaxin 3 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,866,853...13,916,803
Ensembl chr 1:13,874,526...13,916,997 		JBrowse link
G STX5 syntaxin 5 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,071,099...11,094,880
Ensembl chr 1:11,071,118...11,096,189 		JBrowse link
G SYT7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,267,591...12,333,181
Ensembl chr 1:12,267,685...12,333,185 		JBrowse link
G SYVN1 synoviolin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,093,657...9,101,245
Ensembl chr 1:9,094,592...9,100,213 		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 chr 1:11,115,862...11,138,703
Ensembl chr 1:11,115,907...11,138,739 		JBrowse link
G TCN1 transcobalamin 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:13,813,374...13,828,906
Ensembl chr 1:13,813,835...13,827,905 		JBrowse link
G TKFC triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,495,058...12,508,693
Ensembl chr 1:12,495,477...12,507,927 		JBrowse link
G TM7SF2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,112,528...9,117,201
Ensembl chr 1:9,112,710...9,116,898 		JBrowse link
G TMEM109 transmembrane protein 109 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,924,736...12,934,755
Ensembl chr 1:12,924,606...12,934,810 		JBrowse link
G TMEM132A transmembrane protein 132A ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,910,668...12,923,946
Ensembl chr 1:12,910,280...12,923,718 		JBrowse link
G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,473,137...12,480,086
Ensembl chr 1:12,469,790...12,480,394 		JBrowse link
G TMEM179B transmembrane protein 179B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,113,066...11,115,863
Ensembl chr 1:11,113,254...11,115,771 		JBrowse link
G TMEM216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,448,760...12,455,997
Ensembl chr 1:12,448,438...12,455,327 		JBrowse link
G TMEM223 transmembrane protein 223 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,111,275...11,112,983
Ensembl chr 1:11,111,317...11,112,678 		JBrowse link
G TMEM258 transmembrane protein 258 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,062,209...12,065,660
Ensembl chr 1:12,062,215...12,065,659 		JBrowse link
G TRMT112 tRNA methyltransferase activator subunit 11-2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,916,884...9,918,790 JBrowse link
G TRPT1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,009,559...10,012,005
Ensembl chr 1:10,009,706...10,011,958 		JBrowse link
G TTC9C tetratricopeptide repeat domain 9C ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,166,185...11,178,935
Ensembl chr 1:11,165,910...11,179,138 		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 chr 1:11,313,208...11,325,912
Ensembl chr 1:11,312,843...11,326,777 		JBrowse link
G UBXN1 UBX domain protein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,228,944...11,231,549
Ensembl chr 1:11,228,135...11,231,459 		JBrowse link
G VEGFB vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,997,820...10,001,518
Ensembl chr 1:9,997,665...10,001,429 		JBrowse link
G VPS37C VPS37C subunit of ESCRT-I ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,686,887...12,717,335
Ensembl chr 1:12,686,708...12,717,365 		JBrowse link
G VPS51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,117,080...9,142,070
Ensembl chr 1:9,116,723...9,142,031 		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 chr 1:12,546,241...12,583,963
Ensembl chr 1:12,547,220...12,583,577 		JBrowse link
G WDR74 WD repeat domain 74 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:11,063,294...11,070,215
Ensembl chr 1:11,063,265...11,070,218 		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 chr 1:11,157,966...11,160,582
Ensembl chr 1:11,158,409...11,164,749 		JBrowse link
G ZFPL1 zinc finger protein like 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,147,190...9,151,350
Ensembl chr 1:9,146,129...9,151,440 		JBrowse link
G ZFTA zinc finger translocation associated ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:10,477,832...10,484,860
Ensembl chr 1:10,477,938...10,483,159 		JBrowse link
G ZNHIT2 zinc finger HIT-type containing 2 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:9,110,533...9,112,359
Ensembl chr 1:9,111,106...9,112,320 		JBrowse link
G ZP1 zona pellucida glycoprotein 1 ISO ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 ClinVar PMID:28492532 NCBI chr 1:12,969,406...12,979,231
Ensembl chr 1:12,969,439...12,978,545 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14910
      hematopoietic system disease 3151
        leukocyte disease 1225
          leukocyte adhesion deficiency 158
            leukocyte adhesion deficiency 3 157
Path 2
Term Annotations click to browse term
  disease 15275
    Developmental Disease 13251
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12365
        genetic disease 12018
          monogenic disease 10116
            autosomal genetic disease 9344
              autosomal recessive disease 6545
                leukocyte adhesion deficiency 158
                  leukocyte adhesion deficiency 3 157
paths to the root