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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:alpha-mannosidosis
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Accession:DOID:3413 term browser browse the term
Definition:A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. (DO)
Synonyms:exact_synonym: Alpha-Mannosidosis, Type I;   Lysosomal Alpha B Mannosidosis;   MANSA;   alpha Mannosidase Deficiency;   alpha mannosidase B deficiency;   alpha-D-mannosidosis;   alpha-Mannosidase Deficiencies;   alpha-Mannosidoses;   deficiency of alpha-mannosidase;   lysosomal alpha D mannosidase deficiency;   lysosomal alpha-D-mannosidase deficiencies
 primary_id: MESH:D008363
 alt_id: OMIM:248500
 xref: GARD:6968;   NCI:C84548
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
alpha-mannosidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ANGPTL8 angiopoietin like 8 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,239,619...11,241,943
Ensembl chr19:11,237,502...11,241,943 		JBrowse link
G BEST2 bestrophin 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,751,791...12,758,458
Ensembl chr19:12,751,702...12,758,458 		JBrowse link
G C19orf38 chromosome 19 open reading frame 38 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,836,685...10,869,790
Ensembl chr19:10,836,575...10,869,790 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CALR calreticulin IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CARM1 coactivator associated arginine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,871,553...10,923,075
Ensembl chr19:10,871,553...10,923,075 		JBrowse link
G CCDC159 coiled-coil domain containing 159 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,346,519...11,354,944
Ensembl chr19:11,344,684...11,354,944 		JBrowse link
G CNN1 calponin 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,538,851...11,550,323
Ensembl chr19:11,538,767...11,550,323 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,969,576...12,974,760
Ensembl chr19:12,965,159...12,974,760 		JBrowse link
G DHPS deoxyhypusine synthase IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G DNM2 dynamin 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G ECSIT ECSIT signaling integrator IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,505,929...11,529,134
Ensembl chr19:11,505,929...11,529,172 		JBrowse link
G ELAVL3 ELAV like RNA binding protein 3 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,451,326...11,481,046
Ensembl chr19:11,451,326...11,481,046 		JBrowse link
G ELOF1 elongation factor 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,553,046...11,559,230
Ensembl chr19:11,551,147...11,559,230 		JBrowse link
G EPOR erythropoietin receptor IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,688,916...12,696,631
Ensembl chr19:12,688,053...12,696,631 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,953,119...12,957,223
Ensembl chr19:12,953,119...12,957,223 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,763,003...12,792,350
Ensembl chr19:12,763,003...12,872,740 		JBrowse link
G IER2 immediate early response 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:13,150,411...13,154,911
Ensembl chr19:13,150,411...13,154,911 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LDLR low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LOC129391064 MPRA-validated peak3365 silencer IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9536098 PMID:9915946 PMID:12718372 PMID:16199547 PMID:17576681 More... NCBI chr19:12,657,321...12,657,521 JBrowse link
G LOC130063648 ATAC-STARR-seq lymphoblastoid active region 14063 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:22161967 PMID:25741868 PMID:28492532 NCBI chr19:12,647,517...12,647,586 JBrowse link
G LOC130063649 ATAC-STARR-seq lymphoblastoid silent region 10155 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,647,827...12,647,926 JBrowse link
G LOC130063650 ATAC-STARR-seq lymphoblastoid silent region 10156 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:21505070 PMID:22161967 PMID:25741868 PMID:28492532 NCBI chr19:12,666,605...12,666,884 JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:13,099,033...13,102,858
Ensembl chr19:13,099,033...13,103,161 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deficiency of alpha-mannosidase
ClinVar Annotator: match by term: Alpha-Mannosidosis | ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar Annotator: match by term: Mannosidosis, alpha B lysosomal
OMIM:248500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:724292 PMID:1472354 PMID:4358183 PMID:9158146 PMID:9370301 More... NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G MIR199A1 microRNA 199a-1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,817,426...10,817,496
Ensembl chr19:10,817,426...10,817,496 		JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
G NFIX nuclear factor I X IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G PRDX2 peroxiredoxin 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,435,635...11,450,968
Ensembl chr19:11,435,284...11,450,968 		JBrowse link
G RAB3D RAB3D, member RAS oncogene family IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,322,068...11,339,657
Ensembl chr19:11,322,068...11,346,270 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,945,862...12,953,642
Ensembl chr19:12,945,855...12,953,642 		JBrowse link
G RGL3 ral guanine nucleotide dissociation stimulator like 3 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,394,060...11,419,314
Ensembl chr19:11,384,341...11,419,328 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RTBDN retbindin IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,825,482...12,835,428
Ensembl chr19:12,825,478...12,835,428 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SPC24 SPC24 component of NDC80 kinetochore complex IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,145,493...11,155,782
Ensembl chr19:11,131,520...11,155,807 		JBrowse link
G STX10 syntaxin 10 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:13,144,058...13,150,375
Ensembl chr19:13,144,058...13,150,383 		JBrowse link
G SWSAP1 SWIM-type zinc finger 7 associated protein 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,374,666...11,376,169
Ensembl chr19:11,374,666...11,376,951 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,898,786...12,919,293
Ensembl chr19:12,898,786...12,919,293 		JBrowse link
G TIMM29 translocase of inner mitochondrial membrane 29 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,928,811...10,930,254
Ensembl chr19:10,928,811...10,933,535 		JBrowse link
G TMED1 transmembrane p24 trafficking protein 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,832,067...10,836,212
Ensembl chr19:10,832,067...10,836,318 		JBrowse link
G TMEM205 transmembrane protein 205 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,342,778...11,346,492
Ensembl chr19:11,342,776...11,346,518 		JBrowse link
G TNPO2 transportin 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TRIR telomerase RNA component interacting RNase IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,730,640...12,734,684
Ensembl chr19:12,730,640...12,734,684 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567 		JBrowse link
G TSPAN16 tetraspanin 16 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,296,160...11,326,996
Ensembl chr19:11,296,139...11,326,996 		JBrowse link
G WDR83 WD repeat domain 83 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 NCBI chr19:12,666,807...12,675,832
Ensembl chr19:12,666,802...12,675,832 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:9915946 PMID:22161967 PMID:28492532 PMID:32331969 NCBI chr19:12,668,073...12,669,415
Ensembl chr19:12,668,073...12,669,415 		JBrowse link
G YIPF2 Yip1 domain family member 2 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:10,922,193...10,928,639
Ensembl chr19:10,922,185...10,928,681 		JBrowse link
G ZNF136 zinc finger protein 136 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,163,096...12,189,871
Ensembl chr19:12,163,064...12,189,871 		JBrowse link
G ZNF20 zinc finger protein 20 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,131,350...12,140,350
Ensembl chr19:12,092,843...12,140,355 		JBrowse link
G ZNF433 zinc finger protein 433 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,014,715...12,035,679
Ensembl chr19:12,014,715...12,035,741 		JBrowse link
G ZNF439 zinc finger protein 439 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,848,726...11,869,486
Ensembl chr19:11,848,726...11,883,750 		JBrowse link
G ZNF44 zinc finger protein 44 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,224,686...12,294,883
Ensembl chr19:12,224,686...12,294,883 		JBrowse link
G ZNF440 zinc finger protein 440 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,814,273...11,835,216
Ensembl chr19:11,814,273...11,835,216 		JBrowse link
G ZNF441 zinc finger protein 441 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,767,000...11,784,078
Ensembl chr19:11,767,000...11,784,078 		JBrowse link
G ZNF442 zinc finger protein 442 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,345,944...12,373,779
Ensembl chr19:12,345,944...12,365,905 		JBrowse link
G ZNF443 zinc finger protein 443 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,429,706...12,441,021
Ensembl chr19:12,429,706...12,441,021 		JBrowse link
G ZNF490 zinc finger protein 490 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,576,100...12,610,813
Ensembl chr19:12,576,100...12,640,098 		JBrowse link
G ZNF491 zinc finger protein 491 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,798,523...11,808,503
Ensembl chr19:11,797,667...11,809,622 		JBrowse link
G ZNF563 zinc finger protein 563 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,317,477...12,347,390
Ensembl chr19:12,317,477...12,333,720 		JBrowse link
G ZNF564 zinc finger protein 564 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:25741868 PMID:28492532 NCBI chr19:12,525,373...12,551,482
Ensembl chr19:12,525,373...12,551,542 		JBrowse link
G ZNF625 zinc finger protein 625 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,144,890...12,156,734
Ensembl chr19:12,142,090...12,156,734 		JBrowse link
G ZNF627 zinc finger protein 627 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,597,483...11,619,161
Ensembl chr19:11,559,374...11,619,161 		JBrowse link
G ZNF653 zinc finger protein 653 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,483,429...11,505,839
Ensembl chr19:11,483,427...11,505,839 		JBrowse link
G ZNF69 zinc finger protein 69 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,887,782...11,980,222
Ensembl chr19:11,887,782...11,914,329 		JBrowse link
G ZNF700 zinc finger protein 700 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,925,107...11,950,763
Ensembl chr19:11,925,068...11,950,773 		JBrowse link
G ZNF709 zinc finger protein 709 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,461,184...12,484,816
Ensembl chr19:12,461,184...12,513,854 		JBrowse link
G ZNF763 zinc finger protein 763 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,965,040...11,980,617
Ensembl chr19:11,965,037...11,980,617 		JBrowse link
G ZNF791 zinc finger protein 791 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,610,920...12,633,834
Ensembl chr19:12,610,918...12,633,840 		JBrowse link
G ZNF799 zinc finger protein 799 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,390,016...12,415,084
Ensembl chr19:12,390,016...12,401,271 		JBrowse link
G ZNF823 zinc finger protein 823 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:11,721,265...11,738,946
Ensembl chr19:11,721,265...11,739,009 		JBrowse link
G ZNF844 zinc finger protein 844 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,064,731...12,081,565
Ensembl chr19:12,064,731...12,081,565 		JBrowse link
G ZNF878 zinc finger protein 878 IAGP ClinVar Annotator: match by term: Deficiency of alpha-mannosidase ClinVar PMID:28492532 NCBI chr19:12,043,602...12,052,961
Ensembl chr19:12,043,805...12,052,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    Nutritional and Metabolic Diseases 10577
      disease of metabolism 10577
        inherited metabolic disorder 7909
          lysosomal storage disease 1058
            Mannosidase Deficiency Diseases 103
              alpha-mannosidosis 87
                Alpha-Mannosidosis, Type 1 0
                Alpha-Mannosidosis, Type 2 0
                Alpha-Mannosidosis, Type 3 0
Path 2
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24645
        genetic disease 23839
          inherited metabolic disorder 7909
            carbohydrate metabolic disorder 3660
              Mannosidase Deficiency Diseases 103
                alpha-mannosidosis 87
                  Alpha-Mannosidosis, Type 1 0
                  Alpha-Mannosidosis, Type 2 0
                  Alpha-Mannosidosis, Type 3 0
paths to the root