|
G
|
Cftr
|
CF transmembrane conductance regulator
|
susceptibility
|
ISO
|
DNA:mutations: : DNA:SNP:cds:rs113857788(p.Q1352H)(human)
|
RGD |
PMID:19858235 PMID:18703788 PMID:23514810 |
RGD:4140395, RGD:4140430, RGD:36049751 |
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
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|
G
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Ifngr1
|
interferon gamma receptor 1
|
susceptibility
|
ISO
|
DNA:nonsense mutation CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
|
CTD ClinVar RGD |
PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 PMID:10480427 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16199547 PMID:16690980 PMID:17251453 PMID:17513528 PMID:17576681 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:24220318 PMID:25216720 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:26642243 PMID:27356097 PMID:27868075 PMID:28492532 PMID:28744922 PMID:28902581 PMID:29249112 PMID:29572183 PMID:8960473 More...
|
RGD:1624283 |
NCBI chr 1:16,152,811...16,171,439
Ensembl chr 1:16,152,879...16,171,437
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|
G
|
Il12b
|
interleukin 12B
|
susceptibility
|
ISO
|
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
|
ClinVar RGD |
PMID:9854038 |
RGD:1600042 |
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
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|
G
|
Il18
|
interleukin 18
|
|
ISO
|
|
RGD |
PMID:21045270 |
RGD:4889546 |
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
|
|
G
|
Il1r1
|
interleukin 1 receptor type 1
|
|
ISO
|
|
RGD |
PMID:16797208 |
RGD:5037237 |
NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:50,000,566...50,076,579
|
|
G
|
Il20ra
|
interleukin 20 receptor subunit alpha
|
|
ISO
|
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
|
ClinVar |
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 |
|
NCBI chr 1:16,243,683...16,313,229
Ensembl chr 1:16,243,801...16,313,221
|
|
G
|
Il22ra2
|
interleukin 22 receptor subunit alpha 2
|
|
ISO
|
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
|
ClinVar |
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 |
|
NCBI chr 1:16,172,238...16,228,009
Ensembl chr 1:16,184,113...16,197,950
|
|
G
|
Olig3
|
oligodendrocyte transcription factor 3
|
|
ISO
|
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
|
ClinVar |
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 |
|
NCBI chr 1:15,900,881...15,902,953
Ensembl chr 1:15,900,736...15,902,274
|
|
G
|
Pex7
|
peroxisomal biogenesis factor 7
|
|
ISO
|
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
|
ClinVar |
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 |
|
NCBI chr 1:16,402,319...16,466,304
Ensembl chr 1:16,402,320...16,466,366
|
|
G
|
Slc35d3
|
solute carrier family 35, member D3
|
|
ISO
|
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
|
ClinVar |
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 |
|
NCBI chr 1:16,389,308...16,392,780
Ensembl chr 1:16,389,308...16,392,780
|
|
G
|
Stat1
|
signal transducer and activator of transcription 1
|
susceptibility
|
ISO
|
DNA:transition: ; 2116T>C ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant
|
ClinVar RGD |
PMID:11452125 |
RGD:1600087 |
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
|
|
G
|
Tnfaip3
|
TNF alpha induced protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
|
ClinVar |
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183 |
|
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979
|
|
|
G
|
Slc11a1
|
solute carrier family 11 member 1
|
susceptibility
|
ISO
|
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to | ClinVar Annotator: match by term: SLC11A1-related condition CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:16395392 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238
|
|
|
G
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Irf1
|
interferon regulatory factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 117
|
OMIM ClinVar |
|
|
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:38,417,148...38,424,947
|
|
|
G
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Bclaf1
|
BCL2-associated transcription factor 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,904,572...16,937,106
Ensembl chr 1:16,914,118...16,936,801
|
|
G
|
Card11
|
caspase recruitment domain family, member 11
|
|
ISO
|
ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
|
ClinVar |
PMID:25741868 |
|
NCBI chr12:18,735,088...18,872,045
Ensembl chr12:18,735,088...18,872,045
|
|
G
|
Ifngr1
|
interferon gamma receptor 1
|
susceptibility
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar OMIM |
PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 PMID:9806040 PMID:10192386 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16690980 PMID:17251453 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:19880857 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:25216720 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:27356097 PMID:28492532 PMID:28902581 More...
|
|
NCBI chr 1:16,152,811...16,171,439
Ensembl chr 1:16,152,879...16,171,437
|
|
G
|
Ifngr2
|
interferon gamma receptor 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr11:44,265,703...44,283,975
Ensembl chr11:44,265,703...44,283,975
|
|
G
|
Il12rb1
|
interleukin 12 receptor subunit beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr16:18,654,207...18,668,887
Ensembl chr16:18,654,207...18,666,824
|
|
G
|
Il20ra
|
interleukin 20 receptor subunit alpha
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,243,683...16,313,229
Ensembl chr 1:16,243,801...16,313,221
|
|
G
|
Il22ra2
|
interleukin 22 receptor subunit alpha 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,172,238...16,228,009
Ensembl chr 1:16,184,113...16,197,950
|
|
G
|
Map3k5
|
mitogen-activated protein kinase kinase kinase 5
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:16,505,596...16,723,898
|
|
G
|
Map7
|
microtubule-associated protein 7
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,730,000...16,857,173
Ensembl chr 1:16,730,075...16,857,170
|
|
G
|
Mtfr2
|
mitochondrial fission regulator 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,942,814...16,958,218
|
|
G
|
Pde7b
|
phosphodiesterase 7B
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,994,072...17,312,828
Ensembl chr 1:17,002,286...17,312,456
|
|
G
|
Pex7
|
peroxisomal biogenesis factor 7
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,402,319...16,466,304
Ensembl chr 1:16,402,320...16,466,366
|
|
G
|
Slc35d3
|
solute carrier family 35, member D3
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 27A
|
ClinVar |
PMID:28492532 |
|
NCBI chr 1:16,389,308...16,392,780
Ensembl chr 1:16,389,308...16,392,780
|
|
|
G
|
Abcd1
|
ATP binding cassette subfamily D member 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,579,669...156,601,448
Ensembl chr X:156,579,785...156,601,446
|
|
G
|
Arhgap4
|
Rho GTPase activating protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,787,566...156,802,841
Ensembl chr X:156,783,776...156,802,450
|
|
G
|
Atp2b3
|
ATPase plasma membrane Ca2+ transporting 3
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,367,582...156,464,085
Ensembl chr X:156,367,852...156,438,153
|
|
G
|
Atp6ap1
|
ATPase H+ transporting accessory protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,231,243...157,238,323
Ensembl chr X:157,225,327...157,238,323
|
|
G
|
Avpr2
|
arginine vasopressin receptor 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,785,009...156,787,477
Ensembl chr X:156,785,139...156,787,477
|
|
G
|
Bcap31
|
B-cell receptor-associated protein 31
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,548,911...156,581,002
Ensembl chr X:156,548,911...156,579,371
|
|
G
|
Bgn
|
biglycan
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,348,633...156,360,797
Ensembl chr X:156,348,615...156,360,799
|
|
G
|
Brcc3
|
BRCA1/BRCA2-containing complex subunit 3
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr 9:2,073,927...2,076,469
Ensembl chr 9:2,073,184...2,084,185
|
|
G
|
Ccnq
|
cyclin Q
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,144,560...64,145,723
Ensembl chr10:64,144,555...64,145,911
|
|
G
|
Clic2
|
chloride intracellular channel 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr20:154,630...169,655
Ensembl chr20:154,255...169,648
|
|
G
|
Cmc4
|
C-X9-C motif containing 4
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr18:139,382...147,037
|
|
G
|
Ctag2
|
cancer/testis antigen 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:148,567,674...148,568,972
Ensembl chr X:148,567,674...148,568,968
|
|
G
|
Dkc1
|
dyskerin pseudouridine synthase 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,751,651...157,757,796
Ensembl chr Y:380,743...385,405 Ensembl chr X:380,743...385,405
|
|
G
|
Dnase1l1
|
deoxyribonuclease 1-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,208,230...157,216,812
Ensembl chr X:157,208,230...157,216,711
|
|
G
|
Dusp9
|
dual specificity phosphatase 9
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,503,237...156,507,162
Ensembl chr X:156,503,190...156,507,161
|
|
G
|
Emd
|
emerin
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,190,438...157,193,479
Ensembl chr X:157,189,819...157,197,095
|
|
G
|
F8
|
coagulation factor VIII
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr18:155,237...187,186
Ensembl chr18:155,309...186,683
|
|
G
|
F8a1
|
coagulation factor VIII-associated 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:155,977,859...155,979,373
Ensembl chr X:155,976,941...156,108,974
|
|
G
|
Fam3a
|
FAM3 metabolism regulating signaling molecule A
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,317,993...157,326,640
Ensembl chr X:157,317,990...157,326,612
|
|
G
|
Fam50a
|
family with sequence similarity 50, member A
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,246,533...157,253,650
Ensembl chr X:157,246,533...157,253,650
|
|
G
|
Flna
|
filamin A
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
|
|
G
|
Fundc2
|
FUN14 domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr18:142,829...155,123
Ensembl chr18:142,640...155,674
|
|
G
|
G6pd
|
glucose-6-phosphate dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:157,352,373...157,372,144
|
|
G
|
Gdi1
|
GDP dissociation inhibitor 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,238,900...157,245,562
Ensembl chr X:157,238,892...157,245,560
|
|
G
|
H2ab3
|
H2A.B variant histone 3
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:86,566,994...86,567,568
Ensembl chr X:86,566,994...86,567,568
|
|
G
|
Haus7
|
HAUS augmin-like complex, subunit 7
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,306,320...156,331,940
Ensembl chr X:156,306,320...156,352,158
|
|
G
|
Hcfc1
|
host cell factor C1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,839,100...156,864,132
Ensembl chr X:156,839,100...156,863,813
|
|
G
|
Idh3g
|
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,666,573...156,675,482
Ensembl chr X:156,666,577...156,675,799
|
|
G
|
Ikbkg
|
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar CTD |
PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 PMID:12459250 PMID:15229184 PMID:15356572 PMID:15577852 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:18179816 PMID:18222329 PMID:20529958 PMID:25068423 PMID:25741868 PMID:28993958 PMID:29534156 PMID:30422821 PMID:31965418 PMID:33224153 More...
|
|
NCBI chr X:157,358,279...157,397,563
Ensembl chr X:157,367,639...157,392,757
|
|
G
|
Il9r
|
interleukin 9 receptor
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:15,936,156...15,947,613
Ensembl chr10:15,936,156...15,947,613
|
|
G
|
Irak1
|
interleukin-1 receptor-associated kinase 1
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,919,927...156,929,825
Ensembl chr X:156,920,081...156,929,825
|
|
G
|
L1cam
|
L1 cell adhesion molecule
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,748,597...156,775,116
Ensembl chr X:156,748,597...156,775,077
|
|
G
|
Lage3
|
L antigen family, member 3
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,289,497...157,290,920
|
|
G
|
Mecp2
|
methyl CpG binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,932,481...156,995,981
Ensembl chr X:156,941,234...156,943,560
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G
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Mpp1
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MAGUK p55 scaffold protein 1
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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G
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Mtcp1
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mature T-cell proliferation 1
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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NCBI chr18:142,416...144,482
Ensembl chr18:140,152...146,517
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G
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Naa10
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N(alpha)-acetyltransferase 10, NatA catalytic subunit
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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NCBI chr X:156,807,378...156,812,632
Ensembl chr X:156,807,378...156,812,574
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G
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Opn1mw
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opsin 1, medium wave sensitive
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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NCBI chr X:157,056,355...157,076,716
Ensembl chr X:157,056,355...157,076,716
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G
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Pdzd4
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PDZ domain containing 4
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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NCBI chr X:156,681,717...156,712,031
Ensembl chr X:156,681,717...156,713,028
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G
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Plxna3
|
plexin A3
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr X:157,266,986...157,282,896
Ensembl chr X:157,267,107...157,282,891
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G
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Plxnb3
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plexin B3
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr X:156,645,505...156,660,011
Ensembl chr X:156,645,182...156,660,003
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G
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Pnck
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pregnancy up-regulated nonubiquitous CaM kinase
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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NCBI chr X:156,520,751...156,524,828
Ensembl chr X:156,520,753...156,525,352
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G
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Renbp
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renin binding protein
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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NCBI chr X:156,812,785...156,821,860
Ensembl chr X:156,812,411...156,821,838
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G
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Rpl10
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ribosomal protein L10
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
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ClinVar |
PMID:25741868 |
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NCBI chr X:157,205,850...157,208,057
Ensembl chr X:157,205,836...157,208,049
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G
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Slc10a3
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solute carrier family 10, member 3
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr X:157,306,043...157,309,849
Ensembl chr X:157,303,915...157,309,793
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G
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Slc6a8
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solute carrier family 6 member 8
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr X:156,536,017...156,545,321
Ensembl chr X:156,536,017...156,545,321
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G
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Spry3
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sprouty RTK signaling antagonist 3
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr12:21,777,090...21,786,280
Ensembl chr12:21,776,005...21,786,804
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G
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Srpk3
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SRSF protein kinase 3
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,661,888...156,666,537
Ensembl chr X:156,661,875...156,666,531
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G
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Ssr4
|
signal sequence receptor subunit 4
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,675,658...156,679,545
Ensembl chr X:156,675,566...156,679,543
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G
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Tafazzin
|
tafazzin, phospholipid-lysophospholipid transacylase
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr X:157,216,826...157,230,524
Ensembl chr X:157,216,554...157,225,287
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G
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Tex28
|
testis expressed 28
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr X:157,076,824...157,110,988
Ensembl chr X:157,076,609...157,093,768
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G
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Tktl1
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transketolase-like 1
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr X:157,105,455...157,138,510
Ensembl chr X:157,105,495...157,138,503
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G
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Tmlhe
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trimethyllysine hydroxylase, epsilon
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr20:96,561...144,414
Ensembl chr20:107,516...144,543
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G
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Trex2
|
three prime repair exonuclease 2
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:156,303,203...156,304,811
Ensembl chr X:156,303,203...156,304,811
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G
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Ubl4a
|
ubiquitin-like 4A
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|
ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:157,302,528...157,305,380
Ensembl chr X:157,304,254...157,305,380
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G
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Vamp7
|
vesicle-associated membrane protein 7
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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NCBI chr12:21,842,206...21,958,556
Ensembl chr12:21,842,228...21,958,552
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G
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Vbp1
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VHL binding protein 1
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ISO
|
ClinVar Annotator: match by term: Immunodeficiency 33
|
ClinVar |
PMID:25741868 |
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G
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Cybb
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cytochrome b-245 beta chain
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ISO
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CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
|
OMIM CTD ClinVar |
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 PMID:9585602 PMID:10089913 PMID:10914676 PMID:11435314 PMID:12139950 PMID:17293536 PMID:17576681 PMID:18546332 PMID:19483051 PMID:21278736 PMID:23193493 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:30470980 More...
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NCBI chr X:16,030,596...16,065,065
Ensembl chr X:16,030,596...16,065,065
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G
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Acap3
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ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191
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G
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Actrt2
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actin-related protein T2
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164
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G
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Agrn
|
agrin
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539
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G
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Ankrd65
|
ankyrin repeat domain 65
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431
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G
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Arhgef16
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Rho guanine nucleotide exchange factor 16
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,126,573...170,148,624
Ensembl chr 5:170,126,575...170,148,624
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G
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Atad3a
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ATPase family, AAA domain containing 3A
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725
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G
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B3galt6
|
Beta-1,3-galactosyltransferase 6
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789
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G
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C1qtnf12
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C1q and TNF related 12
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800
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G
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C5h1orf159
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similar to human chromosome 1 open reading frame 159
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373
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G
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Ccdc27
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coiled-coil domain containing 27
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,867,706...169,881,820
Ensembl chr 5:169,867,709...169,881,888
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G
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Ccnl2
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cyclin L2
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231
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G
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Cdk11b
|
cyclin-dependent kinase 11B
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145
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G
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Cep104
|
centrosomal protein 104
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:169,817,182...169,852,695
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G
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Cfap74
|
cilia and flagella associated protein 74
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349
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G
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Cptp
|
ceramide-1-phosphate transfer protein
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266
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G
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Dvl1
|
dishevelled segment polarity protein 1
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966
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G
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Faap20
|
FA core complex associated protein 20
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599
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G
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Fndc10
|
fibronectin type III domain containing 10
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399
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G
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Gabrd
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gamma-aminobutyric acid type A receptor subunit delta
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094
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G
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Gnb1
|
G protein subunit beta 1
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488
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G
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Hes5
|
hes family bHLH transcription factor 5
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021
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G
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Ints11
|
integrator complex subunit 11
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883
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G
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Isg15
|
ISG15 ubiquitin-like modifier
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
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NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:172,066,369...172,067,656
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G
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Klhl17
|
kelch-like family member 17
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,095,701...172,101,945
Ensembl chr 5:172,094,940...172,101,195
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G
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Lrrc47
|
leucine rich repeat containing 47
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:169,852,926...169,862,598
Ensembl chr 5:169,852,897...169,862,598
|
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G
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Megf6
|
multiple EGF-like-domains 6
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:170,020,699...170,121,557
Ensembl chr 5:170,020,778...170,121,554
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G
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Mib2
|
MIB E3 ubiquitin protein ligase 2
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910
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G
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Mir200a
|
microRNA 200a
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,930,717...171,930,805
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G
|
Mir200b
|
microRNA 200b
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,931,495...171,931,589
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G
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Mir429
|
microRNA 429
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:171,929,682...171,929,766
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G
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Mmel1
|
membrane metallo-endopeptidase-like 1
|
|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058
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G
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Mmp23
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matrix metallopeptidase 23
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695
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G
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Morn1
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MORN repeat containing 1
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218
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G
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Mrpl20
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mitochondrial ribosomal protein L20
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728
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G
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Mxra8
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matrix remodeling associated 8
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879
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G
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Nadk
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NAD kinase
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579
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G
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Noc2l
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NOC2-like nucleolar associated transcriptional repressor
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,102,369...172,114,168
Ensembl chr 5:172,101,223...172,114,162
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G
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Pank4
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pantothenate kinase 4
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477
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G
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Pex10
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peroxisomal biogenesis factor 10
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685
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G
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Plch2
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phospholipase C, eta 2
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152
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G
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Plekhn1
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pleckstrin homology domain containing N1
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,087,524...172,095,566
Ensembl chr 5:172,087,055...172,095,374
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G
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Prdm16
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PR/SET domain 16
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804
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G
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Prkcz
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protein kinase C, zeta
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674
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G
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Prxl2b
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peroxiredoxin like 2B
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556
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G
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Pusl1
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pseudouridine synthase like 1
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339
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G
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Rer1
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retention in endoplasmic reticulum sorting receptor 1
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980
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G
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Rnf223
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ring finger protein 223
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458
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G
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Samd11
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sterile alpha motif domain containing 11
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:172,113,654...172,131,927
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G
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Sdf4
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stromal cell derived factor 4
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884
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G
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Ski
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Ski proto-oncogene
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957
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G
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Slc35e2b
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solute carrier family 35, member E2B
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315
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G
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Smim1
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small integral membrane protein 1 (Vel blood group)
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|
ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,861,751...169,867,070
Ensembl chr 5:169,864,251...169,866,942
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G
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Ssu72
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SSU72 homolog, RNA polymerase II CTD phosphatase
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268
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G
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Tas1r3
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taste 1 receptor member 3
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993
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G
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Tmem240
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transmembrane protein 240
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044
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G
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Tmem278
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transmembrane protein 278
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143
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G
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Tmem52
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transmembrane protein 52
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704
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G
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Tnfrsf14
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TNF receptor superfamily member 14
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046
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G
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Tnfrsf18
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TNF receptor superfamily member 18
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
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G
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Tnfrsf4
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TNF receptor superfamily member 4
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ISO
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ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616
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G
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Tp73
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tumor protein p73
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
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G
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Tprg1l
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tumor protein p63 regulated 1-like
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,004,577...170,007,784
Ensembl chr 5:170,004,577...170,007,983
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G
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Ttc34
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tetratricopeptide repeat domain 34
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368
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G
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Ttll10
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tubulin tyrosine ligase like 10
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337
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G
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Ube2j2
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ubiquitin-conjugating enzyme E2, J2
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034
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G
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Vwa1
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von Willebrand factor A domain containing 1
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880
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G
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Wrap73
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WD repeat containing, antisense to TP73
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ISO
|
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
|
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:169,988,538...170,004,071
Ensembl chr 5:169,988,553...170,004,069
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G
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Ifng
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interferon gamma
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ISO
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ClinVar Annotator: match by term: Immunodeficiency 69
|
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:32163377 |
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NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
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G
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Adipoq
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adiponectin, C1Q and collagen domain containing
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ISO
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associated with pulmonary diseases; protein:increased expression:serum
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RGD |
PMID:19641295 |
RGD:5686838 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
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G
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Il17a
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interleukin 17A
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ISO
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RGD |
PMID:20797909 |
RGD:4888520 |
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
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G
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Tnf
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tumor necrosis factor
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ISO
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associated with HIV Infections
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RGD |
PMID:7640175 |
RGD:10450731 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
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