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: combined T cell and B cell immunodeficiency
Accession: DOID:628
browse the term
Definition: A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. (DO)
Synonyms: exact_synonym: CIDX; COMBINED T AND B CELL IMMUNODEFICIENCY; IMD6; X Linked Immunodeficiency Disease; X Linked Immunodeficiency Syndrome; X-Linked Combined Immunodeficiencies; X-Linked Combined Immunodeficiency Diseases; X-Linked Immunodeficiency Diseases; X-linked combined immunodeficiency; X-linked immunodeficiency syndromes; XCID; congenital combined immunodeficiency; immunodeficiency 6
narrow_synonym: Combined immunodeficiency, X-linked, moderate
primary_id: MESH:D053632
alt_id: OMIA:000899; OMIM:312863
xref: ICD10CM:D81 ; ICD9CM:279.2 ; NCI:C27871 ; ORDO:101972
For additional species annotation, visit the
Alliance of Genome Resources .
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25741868
NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
ClinVar Annotator: match by term: Combined immunodeficiency ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar
PMID:25741868 PMID:32499645
NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865
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Bcl11b
BAF chromatin remodeling complex subunit BCL11B
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25627829 PMID:27959755
NCBI chr 6:131,834,097...131,927,251
Ensembl chr 6:131,834,097...131,926,272
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Carmil2
capping protein regulator and myosin 1 linker 2
ISO
ClinVar Annotator: match by term: Combined T and B cell immunodeficiency ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25741868 PMID:28112205
NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
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Cd27
CD27 molecule
ISO
ClinVar Annotator: match by term: Combined immunodeficiency ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar
PMID:25741868 PMID:25843314 PMID:28492532
NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
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Cd40lg
CD40 ligand
ISO
DNA:polymorphism: :p.G219R (human)
RGD
PMID:21543760
RGD:5490593
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Il2rg
interleukin 2 receptor subunit gamma
ISO IMP
ClinVar Annotator: match by term: Combined immunodeficiency, X-linked
OMIM ClinVar
PMID:2169613 PMID:7557965 PMID:7632950 PMID:7668284 PMID:7883965 PMID:7973658 PMID:8088810 PMID:8961626 PMID:9049783 PMID:9058718 PMID:9399950 PMID:9633906 PMID:10792291 PMID:11129345 PMID:12126929 PMID:14966353 PMID:18641513 PMID:21184155 PMID:22039266 PMID:23683512 PMID:24534054 PMID:25042067 PMID:25741868 PMID:25869287 PMID:28492532 PMID:28747913 , PMID:20111598
RGD:2316325
NCBI chr X:71,165,378...71,169,078
Ensembl chr X:71,162,585...71,169,865
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Il2rgem1Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 1, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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Il2rgem2Kyo
interleukin 2 receptor subunit gamma; ZFN induced mutant 2, Kyo
IMP
RGD
PMID:20111598
RGD:2316325
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Congenital combined immunodeficiency
ClinVar
PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 PMID:16858239 PMID:17125710 PMID:18029407 PMID:19880069 PMID:20031618 PMID:22857948 PMID:23233322 PMID:23283745 PMID:24033266 PMID:24093860 PMID:24111713 PMID:24793961 PMID:25031304 PMID:25351510 PMID:25637381 PMID:25741868 PMID:26743238 PMID:26969327 PMID:27247418 PMID:27532257 PMID:27737317 PMID:27831900 PMID:28138913 PMID:28420666 PMID:28492532 PMID:28615295 PMID:28790153
NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
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Tfrc
transferrin receptor
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:26642240
NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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Zap70
zeta chain of T cell receptor associated protein kinase 70
ISO
ClinVar Annotator: match by term: Combined immunodeficiency
ClinVar
PMID:25627829 PMID:25741868 PMID:26783323
NCBI chr 9:43,331,149...43,353,097
Ensembl chr 9:43,331,155...43,353,113
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Cd40lg
CD40 ligand
disease_progression
ISO
ClinVar Annotator: match by term: X-linked hyper-IgM syndrome ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 1 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) ClinVar Annotator: match by OMIM:308230 DNA:mutations:exon, intron:multiple DNA:missense mutation:exon:p.T169N (526T>A) (human)
ClinVar RGD CTD OMIM
PMID:1385114 PMID:1427881 PMID:7586644 PMID:7678782 PMID:7679206 PMID:7679801 PMID:7906987 PMID:7916370 PMID:8094231 PMID:8550833 PMID:8589998 PMID:8889581 PMID:9746782 PMID:10366125 PMID:10484640 PMID:10559240 PMID:10651941 PMID:11158612 PMID:14641931 PMID:15358621 PMID:15611226 PMID:15623492 PMID:15924140 PMID:16019685 PMID:16169277 PMID:16509032 PMID:17146684 PMID:17351759 PMID:18805740 PMID:18955577 PMID:19575287 PMID:20301576 PMID:20591076 PMID:20625427 PMID:20652909 PMID:20981468 PMID:21543760 PMID:21841160 PMID:22750225 PMID:22928961 PMID:22963373 PMID:23622016 PMID:24402618 PMID:25541662 PMID:25741868 PMID:27324886 PMID:28492532 PMID:29077208 , PMID:21841160 , PMID:17553565 , PMID:15358621 , PMID:16508335
RGD:5490298 , RGD:5490298 , RGD:11039457 , RGD:8547781 , RGD:8547779
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Lig4
DNA ligase 4
ISO
ClinVar Annotator: match by term: Lig4 syndrome ClinVar Annotator: match by term: LIG4-Related Disorders DNA:missense mutation: :p.R278H (mouse) DNA:missense mutation, nonsense mutation: :p.K449Q (c.1345A>C), p.R814* (c.2440C>T) (human) ClinVar Annotator: match by OMIM:606593 DNA:missense mutation: :p.Y288C (mouse)
OMIM ClinVar
PMID:10395545 PMID:11349135 PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:16358361 PMID:16358631 PMID:16585603 PMID:18845326 PMID:23337116 PMID:23372718 PMID:24027040 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:26762768 PMID:27063650 PMID:27612988 PMID:27855655 PMID:27893162 PMID:28039949 PMID:28492532 PMID:28866308 PMID:29146883 PMID:30617623 PMID:30719430 , PMID:20133615 , PMID:27063650 , PMID:19451691
RGD:13204717 , RGD:13204707 , RGD:8694074
NCBI chr16:85,331,771...85,339,496
Ensembl chr16:85,331,866...85,337,769
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G6pd
glucose-6-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA
ClinVar
PMID:25741868
NCBI chr X:156,274,800...156,293,935
Ensembl chr X:156,274,800...156,293,926
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Ikbkg
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
ISO
ClinVar Annotator: match by OMIM:300291 ClinVar Annotator: match by synonym: EDA-ID ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia with immune deficiency DNA:mutation:splicing site: ClinVar Annotator: match by term: HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
OMIM ClinVar
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 PMID:11242109 PMID:11484156 PMID:11590134 PMID:12045264 PMID:14726382 PMID:15100680 PMID:15833888 PMID:16228229 PMID:16333836 PMID:16379012 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:29077208 , PMID:16333836
RGD:12791265
NCBI chr X:156,254,187...156,280,046
Ensembl chr X:156,257,173...156,270,748
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Cenps
centromere protein S
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,946,106...165,955,723
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Clstn1
calsyntenin 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,533,262...166,601,686
Ensembl chr 5:166,533,181...166,601,684
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Cort
cortistatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,942,780...165,944,221
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Ctnnbip1
catenin, beta-interacting protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,464,170...166,513,030
Ensembl chr 5:166,464,252...166,513,027
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Dffa
DNA fragmentation factor subunit alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,922,893...165,935,822
Ensembl chr 5:165,922,915...165,935,821
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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Lzic
leucine zipper and CTNNBIP1 domain containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,430,305...166,443,485
Ensembl chr 5:166,430,400...166,442,284
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Nmnat1
nicotinamide nucleotide adenylyltransferase 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
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Pex14
peroxisomal biogenesis factor 14
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,782,895...165,918,445
Ensembl chr 5:165,782,895...165,918,445
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Pgd
phosphogluconate dehydrogenase
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:165,966,128...165,982,327
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
ISO
ClinVar Annotator: match by term: Immunodeficiency 14 ClinVar Annotator: match by OMIM:615513
OMIM ClinVar
PMID:16984281 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:27426521 PMID:27697496 PMID:28167755 PMID:28492532 PMID:29921932 PMID:30499059
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
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Rbp7
retinol binding protein 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,278,214...166,282,832
Ensembl chr 5:166,278,187...166,282,831
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Ube4b
ubiquitination factor E4B
ISO
ClinVar Annotator: match by term: Immunodeficiency 14
ClinVar
PMID:28492532
NCBI chr 5:166,156,033...166,259,069
Ensembl chr 5:166,156,033...166,259,069
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 15A
OMIM ClinVar
PMID:25741868 PMID:30337470
NCBI chr16:74,177,233...74,230,809
Ensembl chr16:74,177,215...74,230,815
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Tnfrsf4
TNF receptor superfamily member 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 16
OMIM ClinVar
PMID:23897980 PMID:28492532
NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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Dop1a
DOP1 leucine zipper like protein A
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:14981714 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:28492532
NCBI chr 8:94,122,733...94,225,131
Ensembl chr 8:94,122,728...94,225,031
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Me1
malic enzyme 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,256,830...94,368,834
Ensembl chr 8:94,256,839...94,368,834
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Pgm3
phosphoglucomutase 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 23 ClinVar Annotator: match by OMIM:615816
OMIM ClinVar
PMID:1245758 PMID:3500672 PMID:14981714 PMID:17548465 PMID:24033266 PMID:24589341 PMID:24698316 PMID:24931394 PMID:25741868 PMID:26482871 PMID:28492532
NCBI chr 8:94,225,513...94,243,230
Ensembl chr 8:94,225,515...94,243,215
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Prss35
serine protease 35
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,423,629...94,440,509
Ensembl chr 8:94,423,808...94,440,503
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Rwdd2a
RWD domain containing 2A
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,243,318...94,246,496
Ensembl chr 8:94,243,372...94,246,496
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Snap91
synaptosome associated protein 91
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:94,447,558...94,564,772
Ensembl chr 8:94,447,550...94,564,525
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Tpbg
trophoblast glycoprotein
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:93,491,761...93,495,132
Ensembl chr 8:93,491,761...93,495,130
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Ube3d
ubiquitin protein ligase E3D
ISO
ClinVar Annotator: match by term: Immunodeficiency 23
ClinVar
PMID:24931394
NCBI chr 8:93,948,689...94,120,477
Ensembl chr 8:93,948,767...94,120,458
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 36
OMIM ClinVar
PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24886349 PMID:25133428 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27221134 PMID:27693481 PMID:27766312 PMID:28302518 PMID:28492532 PMID:28632845
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 37
ClinVar OMIM
PMID:25365219 PMID:28492532
NCBI chr 2:251,805,392...251,814,957
Ensembl chr 2:251,805,392...251,814,957
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Dock2
dedicator of cytokinesis 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 40
ClinVar OMIM
PMID:25741868 PMID:26083206 PMID:28492532 PMID:29204803
NCBI chr10:19,181,512...19,603,171
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Tfrc
transferrin receptor
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 46 ClinVar Annotator: match by term: Immunodeficiency 46
ClinVar OMIM
PMID:25741868 PMID:26642240
NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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Relb
RELB proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 53 ClinVar Annotator: match by term: Immunodeficiency 53
ClinVar OMIM
PMID:25741868 PMID:26385063
NCBI chr 1:80,517,081...80,545,019
Ensembl chr 1:80,517,411...80,544,825
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Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: IL21R immunodeficiency ClinVar Annotator: match by OMIM:615207
OMIM ClinVar
PMID:22235133 PMID:23440042 PMID:24033266 PMID:25398835 PMID:25741868 PMID:26193622 PMID:28492532
NCBI chr 1:196,996,405...197,024,185
Ensembl chr 1:196,996,581...197,024,166
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Carmil2
capping protein regulator and myosin 1 linker 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 58 ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency
ClinVar OMIM
PMID:25741868 PMID:27647349 PMID:27896283 PMID:28112205 PMID:29479355
NCBI chr19:37,652,383...37,665,333
Ensembl chr19:37,652,969...37,668,019
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Bach2
BTB domain and CNC homolog 2
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 60
OMIM ClinVar
PMID:28530713
NCBI chr 5:47,458,891...47,807,176
Ensembl chr 5:47,546,014...47,807,166
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Ivns1abp
influenza virus NS1A binding protein
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 70
ClinVar OMIM
PMID:32499645
NCBI chr13:68,702,970...68,722,472
Ensembl chr13:68,702,820...68,722,472
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Cd40
CD40 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3 ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3
ClinVar OMIM
PMID:11675497 PMID:12584544 PMID:12593727 PMID:14611700 PMID:15272925 PMID:15307939 PMID:15731360 PMID:17344890 PMID:17949264 PMID:18446002 PMID:20702779 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Itgb2
integrin subunit beta 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency CTD Direct Evidence: marker/mechanism DNA:mutations:cds:p.D231H, G284S (human) DNA:mutation:exon:p.R188X(human) DNA:mutations:multiple DNA:deletion, nonsense mutations:exons:1622_1657del, 2200G>T (human)
ClinVar CTD
PMID:1346613 PMID:1347532 PMID:1590804 PMID:1694220 PMID:1968911 PMID:6142255 PMID:6237120 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9653089 PMID:9884339 PMID:10712675 PMID:10886250 PMID:11703376 PMID:12488604 PMID:17875809 PMID:22134107 PMID:25514840 PMID:25703682 PMID:25741868 PMID:26639818 PMID:28492532 PMID:30412664 , PMID:1968911 , PMID:10886250 , PMID:21103413 , PMID:20549317 , PMID:14512306
RGD:1600220 , RGD:6482222 , RGD:6482223 , RGD:6482224 , RGD:6482225
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Fermt3
FERM domain containing kindlin 3
ISO
DNA:nonsense mutations:exon:p.R509X, p.R573X, p.W229X (human)
RGD
PMID:19064721
RGD:11352306
NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
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Itgb2
integrin subunit beta 2
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency 1 ClinVar Annotator: match by term: Leukocyte adhesion deficiency type 1 ClinVar Annotator: match by OMIM:116920
OMIM ClinVar
PMID:1346613 PMID:1590804 PMID:1968911 PMID:7143170 PMID:7686755 PMID:7705401 PMID:9884339 PMID:10886250 PMID:11703376 PMID:11882363 PMID:12377933 PMID:12488604 PMID:16595236 PMID:17875809 PMID:18675632 PMID:19171538 PMID:20549317 PMID:20807363 PMID:21103413 PMID:22134107 PMID:24033266 PMID:25135596 PMID:25514840 PMID:25703682 PMID:25741868 PMID:25858935 PMID:26639818 PMID:28492532 PMID:30412664
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Fermt3
FERM domain containing kindlin 3
ISO
ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III DNA:nonsense mutation, splice-site mutation:exon:p.R509X (1525C>T) (human) ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:612840
OMIM ClinVar
PMID:12511588 PMID:18779414 PMID:19064721 PMID:19234460 PMID:19234463 PMID:20357244 PMID:21441448 PMID:22134107 PMID:22564402 PMID:25741868 PMID:28492532 , PMID:19234463
RGD:11352305
NCBI chr 1:222,254,183...222,272,775
Ensembl chr 1:222,254,184...222,272,285
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Rasgrp2
RAS guanyl releasing protein 2
ISS
OMIM:612840
MouseDO
NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
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Pnp
purine nucleoside phosphorylase
ISO
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:613179
OMIM ClinVar CTD
PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 PMID:9403342 PMID:9737781 PMID:11453975 PMID:12483996 PMID:15571269 PMID:17407325 PMID:19759001 PMID:22132981 PMID:24033266 PMID:24767876 PMID:25741868 PMID:28492532
NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
G
Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar
PMID:28492532
NCBI chr X:77,076,085...77,193,644
Ensembl chr X:77,076,106...77,193,644
G
Cox7b
cytochrome c oxidase subunit 7B
ISO
ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
ClinVar
PMID:28492532
NCBI chr X:77,065,427...77,071,676
Ensembl chr X:77,065,397...77,071,676
G
Magt1
magnesium transporter 1
ISO
ClinVar Annotator: match by term: Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia ClinVar Annotator: match by OMIM:300853
OMIM ClinVar
PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25741868 PMID:25956530 PMID:28492532 PMID:31036665
NCBI chr X:77,023,423...77,061,603
Ensembl chr X:77,020,402...77,061,667
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all