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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Combined immunodeficiency
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Accession:HP:0005387 term browser browse the term
Definition:A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
Synonyms:xref: UMLS:C0494261


show annotations for term's descendants           Sort by:
Combined immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G AK2 adenylate kinase 2 IAGP HPO OMIM:267500 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996 		JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:27965109 PMID:28368018 PMID:28492532 PMID:29127144 More... NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25627829 PMID:27959755 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO OMIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:28112205 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CD19 CD19 molecule IAGP HPO OMIM:240500 OMIM:613493 NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342 		JBrowse link
G CD27 CD27 molecule IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr12:6,443,892...6,451,713
Ensembl chr12:6,444,955...6,451,718 		JBrowse link
G CD27-AS1 CD27 antisense RNA 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:25843314 PMID:28492532 PMID:32499645 NCBI chr12:6,439,001...6,451,517
Ensembl chr12:6,439,001...6,451,607 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO OMIM:240500 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G DOCK2 dedicator of cytokinesis 2 IAGP HPO OMIM:616433 NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382 		JBrowse link
G ICOS inducible T cell costimulator IAGP HPO OMIM:240500 NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577 		JBrowse link
G ICOSLG inducible T cell costimulator ligand IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:30498080 NCBI chr21:44,216,981...44,240,943
Ensembl chr21:44,215,382...44,241,446 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO OMIM:616873 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO OMIM:312863 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO OMIM:617765 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G LOC113748420 Sharpr-MPRA regulatory region 4482 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:32499645 NCBI chr 7:99,370,026...99,370,320 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G LOC129998866 ATAC-STARR-seq lymphoblastoid silent region 18406 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:32499645
G LOC129998867 ATAC-STARR-seq lymphoblastoid silent region 18407 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:32499645
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:79329 NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481 		JBrowse link
G MS4A1 membrane spanning 4-domains A1 IAGP HPO OMIM:613495 NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYOC myocilin IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP HPO OMIM:616576 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO OMIM:615577 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:24033266 PMID:25627829 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RAG1 recombination activating 1 IAGP HPO OMIM:233650 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO OMIM:233650 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 More... NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TFRC transferrin receptor IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:25741913 PMID:26642240 NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP HPO OMIM:240500 NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TNFRSF13C TNF receptor superfamily member 13C IAGP HPO OMIM:240500 OMIM:613494 NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP ClinVar Annotator: match by term: Combined immunodeficiency ClinVar PMID:20301777 PMID:25627829 PMID:25741868 PMID:26783323 PMID:28492532 More... NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
Severe combined immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 PMID:1401934 More... OMIM:102700 ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G AK2 adenylate kinase 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:9536098 PMID:17576681 PMID:19043416 PMID:19043417 PMID:26229552 More... ORPHA:33355 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO OMIM:617237 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 OMIM:615617 NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,339,075...118,342,705 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:8490660 PMID:15546002 PMID:25741868 PMID:28492532 PMID:33628209 NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CORO1A coronin 1A IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:11336668 PMID:12727634 PMID:20674517 PMID:21664875 PMID:22527898 More... OMIM:602450 ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:14722525 PMID:19776401 PMID:25724123 PMID:27891178 PMID:28492532 More... NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259 		JBrowse link
G DOCK8-AS1 DOCK8 antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:25724123 PMID:27891178 PMID:29930340 PMID:30697212 PMID:32888943 NCBI chr 9:213,457...215,750
Ensembl chr 9:212,824...215,893 		JBrowse link
G DOP1A DOP1 leucine zipper like protein A IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 More... NCBI chr 6:83,067,671...83,171,350
Ensembl chr 6:83,067,666...83,171,350 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO OMIM:617425 ORPHA:508533 NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP HPO OMIM:300400 ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL7R interleukin 7 receptor IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:15661025 PMID:16492442 PMID:17201233 PMID:17827065 PMID:18403192 More... OMIM:608971 ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G INPP5D inositol polyphosphate-5-phosphatase D IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr 2:233,060,342...233,207,903
Ensembl chr 2:233,059,967...233,207,903 		JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:7481768 PMID:9354668 PMID:9753072 PMID:10900158 PMID:10982185 More... OMIM:600802 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G KDM2B lysine demethylase 2B IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr12:121,408,461...121,582,279
Ensembl chr12:121,429,096...121,581,023 		JBrowse link
G LCK LCK proto-oncogene, Src family tyrosine kinase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:27748010 NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165 		JBrowse link
G LIG4 DNA ligase 4 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:16585603 PMID:18845326 PMID:26151233 PMID:28492532 PMID:31604460 ORPHA:39041 ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LOC107303343 adenosine deaminase intronic regulatory elements IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:8120281 PMID:8178821 PMID:21664875 PMID:25741868 PMID:28492532 NCBI chr20:44,629,004...44,652,471 JBrowse link
G LOC126861358 BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:1635567 PMID:17277165 PMID:24910257 PMID:28492532 PMID:31921117 NCBI chr11:118,349,497...118,350,696 JBrowse link
G LOC126861898 BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,424,400...23,425,599 JBrowse link
G MALT1 MALT1 paracaspase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:21813566 PMID:23296427 PMID:23402911 PMID:25548164 PMID:25633902 More... OMIM:617780 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYOC myocilin IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:9005853 PMID:9639450 PMID:10815160 PMID:11004290 PMID:11292420 More... NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:17548465 PMID:24033266 PMID:24589341 PMID:24931394 PMID:25741868 More... ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:436252 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:1384322 PMID:9067751 PMID:22132981 PMID:23371835 PMID:24033266 More... ORPHA:760 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO OMIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar NCBI chr 1:198,638,713...198,757,476
Ensembl chr 1:198,638,457...198,757,476 		JBrowse link
G RAC2 Rac family small GTPase 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:25741868 PMID:28492532 PMID:30723080 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594 		JBrowse link
G RAG1 recombination activating 1 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:290284 PMID:8810255 PMID:9630231 PMID:10635319 PMID:10701853 More... OMIM:601457 ORPHA:231154 ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 PMID:15025726 PMID:18463379 PMID:20603253 PMID:21131235 PMID:21624848 More... OMIM:601457 ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G STK4 serine/threonine kinase 4 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar
HPO		 OMIM:243150 ORPHA:436252 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
G VDAC2 voltage dependent anion channel 2 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:25741868 NCBI chr10:75,210,170...75,231,448
Ensembl chr10:75,210,154...75,231,448 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar PMID:28492532 PMID:33184721 PMID:35503492 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
G ZBTB25 zinc finger and BTB domain containing 25 IAGP ClinVar Annotator: match by term: Severe combined immunodeficiency ClinVar NCBI chr14:64,449,106...64,505,213
Ensembl chr14:64,449,106...64,505,213 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of the immune system 2724
        Abnormality of immune system physiology 2295
          Immunodeficiency 385
            Combined immunodeficiency 74
              Severe combined immunodeficiency 44
paths to the root