MCID: IMM212
MIFTS: 31

Immunodeficiency by Defective Expression of Mhc Class I

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency by Defective Expression of Mhc Class I

MalaCards integrated aliases for Immunodeficiency by Defective Expression of Mhc Class I:

Name: Immunodeficiency by Defective Expression of Mhc Class I 58
Bare Lymphocyte Syndrome Type 1 58 29 6 39
Mhc Class I Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
immunodeficiency by defective expression of mhc class i
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D81.6
UMLS via Orphanet 72 C1858266
Orphanet 58 ORPHA34592

Summaries for Immunodeficiency by Defective Expression of Mhc Class I

MalaCards based summary : Immunodeficiency by Defective Expression of Mhc Class I, also known as bare lymphocyte syndrome type 1, is related to bare lymphocyte syndrome, type i and fibrosarcoma. An important gene associated with Immunodeficiency by Defective Expression of Mhc Class I is TAP1 (Transporter 1, ATP Binding Cassette Subfamily B Member), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Related phenotypes are hematopoietic system and immune system

Related Diseases for Immunodeficiency by Defective Expression of Mhc Class I

Diseases related to Immunodeficiency by Defective Expression of Mhc Class I via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 20, show less)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type i 30.8 TAPBP TAP2 TAP1 B2M
2 fibrosarcoma 10.2
3 systemic lupus erythematosus 9.9
4 suppressor of tumorigenicity 3 9.9
5 aminopterin syndrome sine aminopterin 9.9
6 lung cancer susceptibility 3 9.9
7 graft-versus-host disease 9.9
8 neutropenia 9.9
9 squamous cell papilloma 9.9
10 melanoma 9.9
11 hepatitis b 9.9
12 papilloma 9.9
13 lupus erythematosus 9.9
14 idiopathic bronchiectasis 9.7 TAP2 TAP1
15 posterior uveal melanoma 9.7 TAP2 TAP1
16 spondylitis 9.5 TAP2 TAP1
17 herpes simplex 9.4 TAP2 TAP1
18 diabetes mellitus, type i 9.3 TAP2 TAP1 B2M
19 diabetes mellitus 9.2 TAP2 TAP1 B2M
20 spondyloarthropathy 1 8.7 TAPBP TAP2 TAP1 B2M

Graphical network of the top 20 diseases related to Immunodeficiency by Defective Expression of Mhc Class I:



Diseases related to Immunodeficiency by Defective Expression of Mhc Class I

Symptoms & Phenotypes for Immunodeficiency by Defective Expression of Mhc Class I

MGI Mouse Phenotypes related to Immunodeficiency by Defective Expression of Mhc Class I:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 B2M TAP1 TAP2 TAPBP
2 immune system MP:0005387 8.92 B2M TAP1 TAP2 TAPBP

Drugs & Therapeutics for Immunodeficiency by Defective Expression of Mhc Class I

Search Clinical Trials , NIH Clinical Center for Immunodeficiency by Defective Expression of Mhc Class I

Genetic Tests for Immunodeficiency by Defective Expression of Mhc Class I

Genetic tests related to Immunodeficiency by Defective Expression of Mhc Class I:

# Genetic test Affiliating Genes
1 Bare Lymphocyte Syndrome Type 1 29 TAP1 TAP2 TAPBP

Anatomical Context for Immunodeficiency by Defective Expression of Mhc Class I

Publications for Immunodeficiency by Defective Expression of Mhc Class I

Articles related to Immunodeficiency by Defective Expression of Mhc Class I:

(showing 6, show less)
# Title Authors PMID Year
1
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. 6
12149238 2002
2
Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. 6
10560675 1999
3
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. 6
10074494 1999
4
Homozygous human TAP peptide transporter mutation in HLA class I deficiency. 6
7517574 1994
5
Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. 6
3891604 1985
6
Mouse strains with point mutations in TAP1 and TAP2. 61
19721454 2010

Variations for Immunodeficiency by Defective Expression of Mhc Class I

ClinVar genetic disease variations for Immunodeficiency by Defective Expression of Mhc Class I:

6 (showing 235, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TAP2 NM_000544.3(TAP2):c.958del (p.Glu320fs)deletion Pathogenic 571072 rs1562331529 6:32800589-32800589 6:32832812-32832812
2 TAP1 NM_000593.5(TAP1):c.1151C>G (p.Ser384Ter)SNV Pathogenic 642101 6:32818800-32818800 6:32851023-32851023
3 TAP1 NM_001292022.2(TAP1):c.961C>T (p.Gln321Ter)SNV Pathogenic 839821 6:32816431-32816431 6:32848654-32848654
4 TAPBP TAPBP, 7.4-KB DELdeletion Pathogenic 7606
5 TAP2 NM_000544.3(TAP2):c.817C>T (p.Arg273Ter)SNV Pathogenic 13727 6:32803059-32803059 6:32835282-32835282
6 TAP2 TAP2, 1-BP DELdeletion Pathogenic 13728
7 TAP1 TAP1, IVS1, G-A, -1SNV Pathogenic 13732
8 TAP2 NM_000544.3(TAP2):c.217_218del (p.Thr73fs)deletion Likely pathogenic 626224 rs1321880935 6:32805793-32805794 6:32838016-32838017
9 TAP2 NM_000544.3(TAP2):c.1272+1G>ASNV Likely pathogenic 534707 rs1222208628 6:32800109-32800109 6:32832332-32832332
10 TAP1 NM_000593.5(TAP1):c.1727C>T (p.Pro576Leu)SNV Conflicting interpretations of pathogenicity 534714 rs2228106 6:32816448-32816448 6:32848671-32848671
11 TAP1 NM_000593.5(TAP1):c.1231-3C>TSNV Conflicting interpretations of pathogenicity 534731 rs56366814 6:32818297-32818297 6:32850520-32850520
12 TAPBP NM_003190.4(TAPBP):c.591G>A (p.Pro197=)SNV Conflicting interpretations of pathogenicity 626175 rs200497341 6:33273043-33273043 6:33305266-33305266
13 TAP2 NM_000544.3(TAP2):c.848G>C (p.Gly283Ala)SNV Uncertain significance 534712 rs1278521116 6:32803028-32803028 6:32835251-32835251
14 TAPBP NM_003190.4(TAPBP):c.369G>A (p.Trp123Ter)SNV Uncertain significance 534710 rs1554279286 6:33281094-33281094 6:33313317-33313317
15 TAP2 NM_000544.3(TAP2):c.1417G>A (p.Val473Ile)SNV Uncertain significance 636814 6:32798439-32798439 6:32830662-32830662
16 TAP2 NM_000544.3(TAP2):c.2005G>A (p.Ala669Thr)SNV Uncertain significance 641118 6:32796739-32796739 6:32828962-32828962
17 TAP2 NM_000544.3(TAP2):c.1852G>T (p.Ala618Ser)SNV Uncertain significance 649505 6:32797257-32797257 6:32829480-32829480
18 TAP2 NM_000544.3(TAP2):c.1769A>G (p.Gln590Arg)SNV Uncertain significance 664292 6:32797733-32797733 6:32829956-32829956
19 TAP2 NM_000544.3(TAP2):c.1720G>A (p.Asp574Asn)SNV Uncertain significance 661661 6:32797782-32797782 6:32830005-32830005
20 TAP2 NM_000544.3(TAP2):c.1714G>A (p.Glu572Lys)SNV Uncertain significance 639852 6:32797788-32797788 6:32830011-32830011
21 TAP2 NM_000544.3(TAP2):c.1655A>G (p.Glu552Gly)SNV Uncertain significance 640861 6:32797847-32797847 6:32830070-32830070
22 TAP2 NM_000544.3(TAP2):c.1373C>T (p.Thr458Met)SNV Uncertain significance 641651 6:32798483-32798483 6:32830706-32830706
23 TAP2 NM_000544.3(TAP2):c.818G>A (p.Arg273Gln)SNV Uncertain significance 642994 6:32803058-32803058 6:32835281-32835281
24 TAP2 NM_000544.3(TAP2):c.100G>A (p.Gly34Arg)SNV Uncertain significance 643299 6:32805911-32805911 6:32838134-32838134
25 TAP1 NM_000593.5(TAP1):c.2005A>G (p.Met669Val)SNV Uncertain significance 644588 6:32815368-32815368 6:32847591-32847591
26 TAP1 NM_000593.5(TAP1):c.1637C>T (p.Pro546Leu)SNV Uncertain significance 647622 6:32816538-32816538 6:32848761-32848761
27 TAP1 NM_000593.5(TAP1):c.1534A>G (p.Met512Val)SNV Uncertain significance 659028 6:32816790-32816790 6:32849013-32849013
28 TAP1 NM_000593.5(TAP1):c.289C>T (p.Arg97Trp)SNV Uncertain significance 654569 6:32821305-32821305 6:32853528-32853528
29 TAP1 NM_000593.5(TAP1):c.184G>A (p.Ala62Thr)SNV Uncertain significance 665818 6:32821410-32821410 6:32853633-32853633
30 TAP1 NM_000593.5(TAP1):c.73C>T (p.Pro25Ser)SNV Uncertain significance 640487 6:32821521-32821521 6:32853744-32853744
31 TAPBP NM_003190.4(TAPBP):c.1046T>C (p.Leu349Pro)SNV Uncertain significance 639896 6:33272238-33272238 6:33304461-33304461
32 TAPBP NM_003190.4(TAPBP):c.1001G>A (p.Gly334Asp)SNV Uncertain significance 665431 6:33272283-33272283 6:33304506-33304506
33 TAPBP NM_003190.4(TAPBP):c.974G>A (p.Gly325Asp)SNV Uncertain significance 661409 6:33272310-33272310 6:33304533-33304533
34 TAPBP NM_003190.4(TAPBP):c.932C>T (p.Pro311Leu)SNV Uncertain significance 661969 6:33272352-33272352 6:33304575-33304575
35 TAPBP NM_003190.4(TAPBP):c.872C>A (p.Pro291His)SNV Uncertain significance 651374 6:33272412-33272412 6:33304635-33304635
36 TAPBP NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser)SNV Uncertain significance 661809 6:33273033-33273033 6:33305256-33305256
37 TAPBP NM_003190.4(TAPBP):c.562A>G (p.Thr188Ala)SNV Uncertain significance 657524 6:33273072-33273072 6:33305295-33305295
38 TAPBP NM_003190.4(TAPBP):c.556C>T (p.Pro186Ser)SNV Uncertain significance 648764 6:33273078-33273078 6:33305301-33305301
39 TAPBP NM_003190.5(TAPBP):c.312del (p.Lys104fs)deletion Uncertain significance 656048 6:33281151-33281151 6:33313374-33313374
40 TAP2 NM_000544.3(TAP2):c.1933-6_1933-3deldeletion Uncertain significance 657703 6:32796814-32796817 6:32829037-32829040
41 TAPBP NM_003190.4(TAPBP):c.129_470-3609deldeletion Uncertain significance 646471 6:33308996-33313773
42 TAP1 NM_000593.5(TAP1):c.2220+6G>ASNV Uncertain significance 640506 6:32814839-32814839 6:32847062-32847062
43 TAP1 NM_000593.5(TAP1):c.1558-4C>GSNV Uncertain significance 655699 6:32816621-32816621 6:32848844-32848844
44 TAPBP NM_003190.4(TAPBP):c.1300+3_1300+6deldeletion Uncertain significance 649689 6:33271899-33271902 6:33304122-33304125
45 TAP2 NM_000544.3(TAP2):c.727G>A (p.Glu243Lys)SNV Uncertain significance 575479 rs1473544417 6:32803432-32803432 6:32835655-32835655
46 TAP2 NM_000544.3(TAP2):c.460G>T (p.Ala154Ser)SNV Uncertain significance 578313 rs1562339896 6:32805551-32805551 6:32837774-32837774
47 TAP1 NM_000593.5(TAP1):c.2311C>G (p.His771Asp)SNV Uncertain significance 569257 rs752812686 6:32813472-32813472 6:32845695-32845695
48 TAP1 NM_000593.5(TAP1):c.1781C>T (p.Thr594Met)SNV Uncertain significance 582193 rs192572056 6:32815835-32815835 6:32848058-32848058
49 TAP1 NM_000593.5(TAP1):c.809G>A (p.Arg270His)SNV Uncertain significance 582202 rs550037204 6:32820249-32820249 6:32852472-32852472
50 TAP1 NM_000593.5(TAP1):c.504G>A (p.Pro168=)SNV Uncertain significance 580787 rs779064547 6:32821090-32821090 6:32853313-32853313
51 TAP1 NM_000593.5(TAP1):c.191C>T (p.Ser64Phe)SNV Uncertain significance 566325 rs571573117 6:32821403-32821403 6:32853626-32853626
52 TAP1 NM_000593.5(TAP1):c.128G>C (p.Arg43Pro)SNV Uncertain significance 570179 rs754168270 6:32821466-32821466 6:32853689-32853689
53 TAPBP NM_003190.4(TAPBP):c.590C>T (p.Pro197Leu)SNV Uncertain significance 574706 rs149606847 6:33273044-33273044 6:33305267-33305267
54 TAP2 NM_000544.3(TAP2):c.529A>T (p.Ile177Phe)SNV Uncertain significance 569565 rs761121102 6:32805393-32805393 6:32837616-32837616
55 TAP1 NM_000593.5(TAP1):c.2137T>A (p.Leu713Met)SNV Uncertain significance 579634 rs772090667 6:32814928-32814928 6:32847151-32847151
56 TAPBP NM_003190.4(TAPBP):c.1180C>T (p.Arg394Cys)SNV Uncertain significance 578410 rs545499119 6:33272104-33272104 6:33304327-33304327
57 TAPBP NM_003190.4(TAPBP):c.1069G>A (p.Asp357Asn)SNV Uncertain significance 576167 rs376210117 6:33272215-33272215 6:33304438-33304438
58 TAP2 NM_000544.3(TAP2):c.701T>A (p.Leu234Gln)SNV Uncertain significance 574783 rs138708621 6:32803458-32803458 6:32835681-32835681
59 TAP1 NM_000593.5(TAP1):c.1699G>A (p.Asp567Asn)SNV Uncertain significance 579991 rs200865723 6:32816476-32816476 6:32848699-32848699
60 TAP1 NM_000593.5(TAP1):c.295G>T (p.Ala99Ser)SNV Uncertain significance 577447 rs761472739 6:32821299-32821299 6:32853522-32853522
61 TAP1 NM_000593.5(TAP1):c.199C>T (p.Pro67Ser)SNV Uncertain significance 582649 rs375389015 6:32821395-32821395 6:32853618-32853618
62 TAP2 NM_000544.3(TAP2):c.1588G>A (p.Asp530Asn)SNV Uncertain significance 571127 rs140969189 6:32798091-32798091 6:32830314-32830314
63 TAP2 NM_000544.3(TAP2):c.703C>T (p.Arg235Cys)SNV Uncertain significance 566833 rs145890763 6:32803456-32803456 6:32835679-32835679
64 TAP1 NM_000593.5(TAP1):c.1903C>T (p.Arg635Cys)SNV Uncertain significance 581678 rs1168560265 6:32815713-32815713 6:32847936-32847936
65 TAP1 NM_000593.5(TAP1):c.869T>C (p.Leu290Pro)SNV Uncertain significance 576027 rs1562373816 6:32820189-32820189 6:32852412-32852412
66 TAP2 NM_000544.3(TAP2):c.1334C>T (p.Ser445Phe)SNV Uncertain significance 575772 rs769683724 6:32798522-32798522 6:32830745-32830745
67 TAP2 NM_000544.3(TAP2):c.1318G>T (p.Ala440Ser)SNV Uncertain significance 578761 rs1004855025 6:32798538-32798538 6:32830761-32830761
68 TAP2 NM_000544.3(TAP2):c.656C>T (p.Ser219Phe)SNV Uncertain significance 534711 rs1554235670 6:32803503-32803503 6:32835726-32835726
69 TAP1 NM_000593.5(TAP1):c.496_516dup (p.Ala166_Leu172dup)duplication Uncertain significance 534704 rs1311169361 6:32821077-32821078 6:32853300-32853301
70 TAP2 NM_000544.3(TAP2):c.1776G>A (p.Met592Ile)SNV Uncertain significance 534713 rs147150415 6:32797726-32797726 6:32829949-32829949
71 TAPBP NM_003190.4(TAPBP):c.1258G>A (p.Ala420Thr)SNV Uncertain significance 534708 rs1382572674 6:33271947-33271947 6:33304170-33304170
72 TAPBP NM_003190.4(TAPBP):c.845del (p.Val282fs)deletion Uncertain significance 534706 rs765712832 6:33272789-33272789 6:33305012-33305012
73 TAPBP NM_003190.4(TAPBP):c.161C>T (p.Pro54Leu)SNV Uncertain significance 534702 rs139155669 6:33281518-33281518 6:33313741-33313741
74 TAP1 NM_000593.5(TAP1):c.1383C>G (p.Asn461Lys)SNV Uncertain significance 534703 rs756823000 6:32818142-32818142 6:32850365-32850365
75 TAP1 NM_000593.5(TAP1):c.1157C>A (p.Ser386Tyr)SNV Uncertain significance 534709 rs779346609 6:32818794-32818794 6:32851017-32851017
76 TAP1 NM_000593.5(TAP1):c.590C>G (p.Pro197Arg)SNV Uncertain significance 534705 rs1010241068 6:32821004-32821004 6:32853227-32853227
77 TAP1 NM_000593.5(TAP1):c.989G>A (p.Arg330His)SNV Uncertain significance 466394 rs140245535 6:32819921-32819921 6:32852144-32852144
78 TAP2 NM_000544.3(TAP2):c.359G>T (p.Ser120Ile)SNV Uncertain significance 534701 rs932756573 6:32805652-32805652 6:32837875-32837875
79 TAPBP NM_003190.4(TAPBP):c.562A>T (p.Thr188Ser)SNV Uncertain significance 466399 rs561629511 6:33273072-33273072 6:33305295-33305295
80 TAP1 NM_000593.5(TAP1):c.919G>A (p.Gly307Arg)SNV Uncertain significance 466392 rs59328013 6:32819991-32819991 6:32852214-32852214
81 TAP1 NM_000593.5(TAP1):c.1300A>T (p.Met434Leu)SNV Uncertain significance 466378 rs779844691 6:32818225-32818225 6:32850448-32850448
82 TAP1 NM_000593.5(TAP1):c.1313G>A (p.Arg438Gln)SNV Uncertain significance 466379 rs373810087 6:32818212-32818212 6:32850435-32850435
83 TAP1 NM_000593.5(TAP1):c.122C>T (p.Pro41Leu)SNV Uncertain significance 466376 rs554237124 6:32821472-32821472 6:32853695-32853695
84 TAPBP NM_003190.4(TAPBP):c.1181G>A (p.Arg394His)SNV Uncertain significance 466395 rs763198738 6:33272103-33272103 6:33304326-33304326
85 TAPBP NM_003190.4(TAPBP):c.464C>G (p.Ala155Gly)SNV Uncertain significance 466398 rs747106102 6:33280999-33280999 6:33313222-33313222
86 TAP2 NM_000544.3(TAP2):c.1909C>A (p.Leu637Ile)SNV Uncertain significance 466370 rs752068310 6:32797200-32797200 6:32829423-32829423
87 TAP1 NM_000593.5(TAP1):c.2399T>C (p.Val800Ala)SNV Uncertain significance 466387 rs1554242514 6:32813384-32813384 6:32845607-32845607
88 TAP1 NM_001292022.2(TAP1):c.953T>C (p.Leu318Ser)SNV Uncertain significance 841075 6:32816439-32816439 6:32848662-32848662
89 TAP1 NM_001292022.2(TAP1):c.645T>C (p.Ser215=)SNV Uncertain significance 847590 6:32818097-32818097 6:32850320-32850320
90 TAP1 NM_001292022.2(TAP1):c.512C>T (p.Ser171Leu)SNV Uncertain significance 857517 6:32818230-32818230 6:32850453-32850453
91 TAP1 NM_001292022.2(TAP1):c.467G>A (p.Arg156Gln)SNV Uncertain significance 834634 6:32818275-32818275 6:32850498-32850498
92 TAP1 NM_001292022.2(TAP1):c.433G>C (p.Gly145Arg)SNV Uncertain significance 858052 6:32818735-32818735 6:32850958-32850958
93 TAP1 NM_001292022.2(TAP1):c.356T>A (p.Met119Lys)SNV Uncertain significance 859363 6:32818812-32818812 6:32851035-32851035
94 TAP1 NC_000006.12:g.32853311C>GSNV Uncertain significance 859538 6:32821088-32821088 6:32853311-32853311
95 TAP1 NC_000006.12:g.32853462C>TSNV Uncertain significance 849349 6:32821239-32821239 6:32853462-32853462
96 TAP1 NC_000006.12:g.32853656C>GSNV Uncertain significance 840001 6:32821433-32821433 6:32853656-32853656
97 TAP1 NC_000006.12:g.32853783A>GSNV Uncertain significance 863025 6:32821560-32821560 6:32853783-32853783
98 TAPBP NM_003190.5(TAPBP):c.1214T>A (p.Leu405His)SNV Uncertain significance 843381 6:33271991-33271991 6:33304214-33304214
99 TAPBP NM_003190.5(TAPBP):c.1196C>A (p.Thr399Asn)SNV Uncertain significance 851044 6:33272088-33272088 6:33304311-33304311
100 TAPBP NM_003190.5(TAPBP):c.1186G>A (p.Ala396Thr)SNV Uncertain significance 837985 6:33272098-33272098 6:33304321-33304321
101 TAPBP NM_003190.5(TAPBP):c.1135C>G (p.Arg379Gly)SNV Uncertain significance 856530 6:33272149-33272149 6:33304372-33304372
102 TAPBP NM_003190.5(TAPBP):c.1103C>T (p.Pro368Leu)SNV Uncertain significance 846641 6:33272181-33272181 6:33304404-33304404
103 TAPBP NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp)SNV Uncertain significance 850117 6:33272287-33272287 6:33304510-33304510
104 TAPBP NM_003190.5(TAPBP):c.796G>A (p.Glu266Lys)SNV Uncertain significance 859173 6:33272838-33272838 6:33305061-33305061
105 TAPBP NM_003190.5(TAPBP):c.667G>C (p.Gly223Arg)SNV Uncertain significance 847817 6:33272967-33272967 6:33305190-33305190
106 TAPBP NM_003190.5(TAPBP):c.574G>A (p.Ala192Thr)SNV Uncertain significance 835970 6:33273060-33273060 6:33305283-33305283
107 TAPBP NM_003190.5(TAPBP):c.373A>G (p.Met125Val)SNV Uncertain significance 837943 6:33281090-33281090 6:33313313-33313313
108 TAPBP NM_003190.5(TAPBP):c.245A>G (p.Tyr82Cys)SNV Uncertain significance 854096 6:33281218-33281218 6:33313441-33313441
109 TAPBP NM_003190.5(TAPBP):c.189G>C (p.Glu63Asp)SNV Uncertain significance 840616 6:33281490-33281490 6:33313713-33313713
110 TAP2 NM_001290043.2(TAP2):c.676C>T (p.Arg226Trp)SNV Uncertain significance 828011 6:32803483-32803483 6:32835706-32835706
111 TAPBP NC_000006.12:g.(?_33301740)_(33314061_?)dupduplication Uncertain significance 833238 6:33269517-33281838
112 TAP2 NM_001290043.2(TAP2):c.*23G>ASNV Uncertain significance 864698 6:32796660-32796660 6:32828883-32828883
113 TAP2 NM_001290043.2(TAP2):c.2051C>T (p.Ala684Val)SNV Uncertain significance 843377 6:32796693-32796693 6:32828916-32828916
114 TAP2 NM_001290043.2(TAP2):c.1961G>A (p.Arg654His)SNV Uncertain significance 834855 6:32796783-32796783 6:32829006-32829006
115 TAP2 NM_001290043.2(TAP2):c.1843C>G (p.Leu615Val)SNV Uncertain significance 846442 6:32797266-32797266 6:32829489-32829489
116 TAP2 NM_001290043.2(TAP2):c.1733C>T (p.Ala578Val)SNV Uncertain significance 836733 6:32797769-32797769 6:32829992-32829992
117 TAP2 NM_001290043.2(TAP2):c.1690A>C (p.Ile564Leu)SNV Uncertain significance 862838 6:32797812-32797812 6:32830035-32830035
118 TAP2 NM_001290043.2(TAP2):c.1598C>A (p.Pro533His)SNV Uncertain significance 840474 6:32798081-32798081 6:32830304-32830304
119 TAP2 NM_001290043.2(TAP2):c.1496C>T (p.Thr499Met)SNV Uncertain significance 862130 6:32798183-32798183 6:32830406-32830406
120 TAP2 NM_001290043.2(TAP2):c.1450C>A (p.Pro484Thr)SNV Uncertain significance 854595 6:32798406-32798406 6:32830629-32830629
121 TAP2 NM_001290043.2(TAP2):c.1297A>G (p.Met433Val)SNV Uncertain significance 835173 6:32798559-32798559 6:32830782-32830782
122 TAP2 NM_001290043.2(TAP2):c.1255G>A (p.Val419Met)SNV Uncertain significance 836451 6:32800127-32800127 6:32832350-32832350
123 TAP2 NM_001290043.2(TAP2):c.1148T>C (p.Leu383Pro)SNV Uncertain significance 836124 6:32800234-32800234 6:32832457-32832457
124 TAP2 NM_001290043.2(TAP2):c.1085G>A (p.Cys362Tyr)SNV Uncertain significance 854427 6:32800462-32800462 6:32832685-32832685
125 TAP2 NM_001290043.2(TAP2):c.937C>T (p.Arg313Cys)SNV Uncertain significance 837110 6:32802939-32802939 6:32835162-32835162
126 TAP2 NM_001290043.2(TAP2):c.887C>T (p.Ser296Phe)SNV Uncertain significance 839788 6:32802989-32802989 6:32835212-32835212
127 TAP2 NM_001290043.2(TAP2):c.883C>G (p.Leu295Val)SNV Uncertain significance 859394 6:32802993-32802993 6:32835216-32835216
128 TAP2 NM_001290043.2(TAP2):c.715G>A (p.Gly239Ser)SNV Uncertain significance 864156 6:32803444-32803444 6:32835667-32835667
129 TAP2 NM_001290043.2(TAP2):c.661A>G (p.Ile221Val)SNV Uncertain significance 836991 6:32803498-32803498 6:32835721-32835721
130 TAP2 NM_001290043.2(TAP2):c.331C>T (p.Leu111Phe)SNV Uncertain significance 841860 6:32805680-32805680 6:32837903-32837903
131 TAP2 NM_001290043.2(TAP2):c.68T>C (p.Leu23Pro)SNV Uncertain significance 845772 6:32805943-32805943 6:32838166-32838166
132 TAP1 NM_001292022.2(TAP1):c.1235C>T (p.Thr412Ile)SNV Uncertain significance 843581 6:32815355-32815355 6:32847578-32847578
133 TAP1 NM_001292022.2(TAP1):c.1180C>G (p.Leu394Val)SNV Uncertain significance 842574 6:32815410-32815410 6:32847633-32847633
134 TAP1 NM_001292022.2(TAP1):c.1169T>C (p.Phe390Ser)SNV Uncertain significance 852809 6:32815421-32815421 6:32847644-32847644
135 TAP1 NM_001292022.2(TAP1):c.991G>A (p.Glu331Lys)SNV Uncertain significance 855753 6:32815842-32815842 6:32848065-32848065
136 TAP1 NM_000593.5(TAP1):c.2156G>A (p.Arg719Gln)SNV Likely benign 13731 rs121917702 6:32814909-32814909 6:32847132-32847132
137 TAP2 NM_001290043.2(TAP2):c.1200G>A (p.Gln400=)SNV Likely benign 792630 6:32800182-32800182 6:32832405-32832405
138 TAP2 NM_001290043.2(TAP2):c.984G>A (p.Ala328=)SNV Likely benign 793931 6:32800563-32800563 6:32832786-32832786
139 TAPBP NM_003190.5(TAPBP):c.21C>T (p.Leu7=)SNV Likely benign 800075 6:33281798-33281798 6:33314021-33314021
140 TAP2 NM_001290043.2(TAP2):c.1767C>A (p.Ile589=)SNV Likely benign 756850 6:32797735-32797735 6:32829958-32829958
141 TAP2 NM_001290043.2(TAP2):c.471C>T (p.Phe157=)SNV Likely benign 763288 6:32805540-32805540 6:32837763-32837763
142 TAP1 NM_000593.5(TAP1):c.366G>A (p.Leu122=)SNV Likely benign 761231 6:32821228-32821228 6:32853451-32853451
143 TAPBP NM_003190.5(TAPBP):c.1228C>T (p.Leu410Phe)SNV Likely benign 763120 6:33271977-33271977 6:33304200-33304200
144 TAPBP NM_003190.5(TAPBP):c.998G>A (p.Arg333Gln)SNV Likely benign 729268 6:33272286-33272286 6:33304509-33304509
145 TAP2 NM_001290043.2(TAP2):c.1932C>T (p.Ala644=)SNV Likely benign 744370 6:32797177-32797177 6:32829400-32829400
146 TAP2 NM_001290043.2(TAP2):c.1500G>A (p.Ala500=)SNV Likely benign 738310 6:32798179-32798179 6:32830402-32830402
147 TAP1 NM_000593.5(TAP1):c.870C>T (p.Leu290=)SNV Likely benign 741429 6:32820188-32820188 6:32852411-32852411
148 TAP1 NM_000593.5(TAP1):c.267T>C (p.Leu89=)SNV Likely benign 742170 6:32821327-32821327 6:32853550-32853550
149 TAP1 NM_000593.5(TAP1):c.99C>T (p.Leu33=)SNV Likely benign 742182 6:32821495-32821495 6:32853718-32853718
150 TAPBP NM_003190.5(TAPBP):c.1185C>T (p.Ser395=)SNV Likely benign 742719 6:33272099-33272099 6:33304322-33304322
151 TAP1 NM_000593.5(TAP1):c.572T>C (p.Leu191Pro)SNV Likely benign 466388 rs142907576 6:32821022-32821022 6:32853245-32853245
152 TAP1 NM_000593.5(TAP1):c.1335C>T (p.Gly445=)SNV Likely benign 534727 rs139907578 6:32818190-32818190 6:32850413-32850413
153 TAP2 NM_000544.3(TAP2):c.1827G>A (p.Ala609=)SNV Likely benign 534732 rs764437170 6:32797282-32797282 6:32829505-32829505
154 TAP1 NM_000593.5(TAP1):c.2256C>T (p.Tyr752=)SNV Likely benign 534729 rs56337036 6:32813527-32813527 6:32845750-32845750
155 TAPBP NM_003190.4(TAPBP):c.1234G>A (p.Asp412Asn)SNV Likely benign 534736 rs138516982 6:33271971-33271971 6:33304194-33304194
156 TAPBP NM_003190.4(TAPBP):c.753C>T (p.Thr251=)SNV Likely benign 534734 rs147684698 6:33272881-33272881 6:33305104-33305104
157 TAP2 NM_000544.3(TAP2):c.983C>G (p.Ala328Gly)SNV Likely benign 534733 rs148663600 6:32800564-32800564 6:32832787-32832787
158 TAP2 NM_000544.3(TAP2):c.1752C>T (p.His584=)SNV Likely benign 466368 rs144543918 6:32797750-32797750 6:32829973-32829973
159 TAP2 NM_000544.3(TAP2):c.2070G>A (p.Gln690=)SNV Likely benign 534717 rs770581305 6:32796674-32796674 6:32828897-32828897
160 TAP1 NM_000593.5(TAP1):c.508C>G (p.Leu170Val)SNV Likely benign 534738 rs2228108 6:32821086-32821086 6:32853309-32853309
161 TAP1 NM_000593.5(TAP1):c.339A>G (p.Pro113=)SNV Likely benign 534735 rs144037908 6:32821255-32821255 6:32853478-32853478
162 TAPBP NM_003190.4(TAPBP):c.563C>T (p.Thr188Ile)SNV Likely benign 534737 rs142455342 6:33273071-33273071 6:33305294-33305294
163 TAP2 NM_000544.3(TAP2):c.970G>A (p.Ala324Thr)SNV Likely benign 534728 rs143726288 6:32800577-32800577 6:32832800-32832800
164 TAP2 NM_000544.3(TAP2):c.1462-7T>CSNV Likely benign 534719 rs201974007 6:32798224-32798224 6:32830447-32830447
165 TAP2 NM_000544.3(TAP2):c.235C>T (p.Leu79=)SNV Likely benign 534722 rs749689805 6:32805776-32805776 6:32837999-32837999
166 TAP1 NM_000593.5(TAP1):c.1773C>T (p.Gly591=)SNV Likely benign 534718 rs144951468 6:32815843-32815843 6:32848066-32848066
167 TAPBP NM_003190.4(TAPBP):c.174_175delinsTT (p.Asp59Tyr)indel Likely benign 534730 rs1554279472 6:33281504-33281505 6:33313727-33313728
168 TAP1 NM_000593.5(TAP1):c.12T>G (p.Leu4=)SNV Likely benign 534720 rs148176741 6:32821582-32821582 6:32853805-32853805
169 TAP1 NM_000593.5(TAP1):c.2334C>T (p.Gly778=)SNV Likely benign 773326 6:32813449-32813449 6:32845672-32845672
170 TAP2 NM_001290043.2(TAP2):c.1119C>T (p.Arg373=)SNV Likely benign 786872 6:32800428-32800428 6:32832651-32832651
171 TAP2 NM_001290043.2(TAP2):c.770C>T (p.Thr257Ile)SNV Likely benign 784071 6:32803106-32803106 6:32835329-32835329
172 TAP2 NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg)SNV Likely benign 788187 6:32805872-32805872 6:32838095-32838095
173 TAP1 NM_000593.5(TAP1):c.664G>A (p.Val222Met)SNV Likely benign 791724 6:32820930-32820930 6:32853153-32853153
174 TAPBP NM_003190.5(TAPBP):c.768C>T (p.Phe256=)SNV Likely benign 771713 6:33272866-33272866 6:33305089-33305089
175 TAP2 NM_001290043.2(TAP2):c.1740C>G (p.Ala580=)SNV Likely benign 709143 6:32797762-32797762 6:32829985-32829985
176 TAP1 NM_000593.5(TAP1):c.2107C>T (p.Leu703=)SNV Likely benign 712828 6:32814958-32814958 6:32847181-32847181
177 TAP1 NM_000593.5(TAP1):c.1283T>C (p.Ile428Thr)SNV Likely benign 715288 6:32818242-32818242 6:32850465-32850465
178 TAP1 NM_000593.5(TAP1):c.637C>T (p.Leu213=)SNV Likely benign 720208 6:32820957-32820957 6:32853180-32853180
179 TAPBP NM_003190.5(TAPBP):c.623G>A (p.Arg208His)SNV Likely benign 709048 6:33273011-33273011 6:33305234-33305234
180 TAPBP NM_003190.5(TAPBP):c.175G>T (p.Asp59Tyr)SNV Likely benign 715762 6:33281504-33281504 6:33313727-33313727
181 TAP2 NM_001290043.2(TAP2):c.537C>T (p.Ile179=)SNV Likely benign 725117 6:32805385-32805385 6:32837608-32837608
182 TAP1 NM_000593.5(TAP1):c.2136G>A (p.Ala712=)SNV Likely benign 728183 6:32814929-32814929 6:32847152-32847152
183 TAP1 NM_000593.5(TAP1):c.1854C>T (p.Thr618=)SNV Likely benign 731998 6:32815762-32815762 6:32847985-32847985
184 TAP2 NM_000544.3(TAP2):c.44T>C (p.Val15Ala)SNV Benign/Likely benign 377081 rs55827768 6:32805967-32805967 6:32838190-32838190
185 TAPBP NM_003190.5(TAPBP):c.333C>G (p.Pro111=)SNV Benign 740897 6:33281130-33281130 6:33313353-33313353
186 TAP2 NM_001290043.2(TAP2):c.1144-5T>CSNV Benign 768078 6:32800243-32800243 6:32832466-32832466
187 TAP2 NM_001290043.2(TAP2):c.1144-6T>ASNV Benign 768079 6:32800244-32800244 6:32832467-32832467
188 TAP2 NM_000544.3(TAP2):c.1993G>A (p.Ala665Thr)SNV Benign 13725 rs241447 6:32796751-32796751 6:32828974-32828974
189 TAP2 NM_000544.3(TAP2):c.2059C>T (p.Gln687Ter)SNV Benign 13726 rs241448 6:32796685-32796685 6:32828908-32828908
190 TAP1 NM_000593.5(TAP1):c.1641C>T (p.Arg547=)SNV Benign 721848 6:32816534-32816534 6:32848757-32848757
191 TAPBP NM_003190.5(TAPBP):c.174G>T (p.Pro58=)SNV Benign 715763 6:33281505-33281505 6:33313728-33313728
192 TAP2 NM_001290043.2(TAP2):c.1878G>A (p.Arg626=)SNV Benign 732070 6:32797231-32797231 6:32829454-32829454
193 TAP2 NM_001290043.2(TAP2):c.336C>T (p.Ser112=)SNV Benign 709636 6:32805675-32805675 6:32837898-32837898
194 TAP2 NM_001290043.2(TAP2):c.1755A>G (p.Ala585=)SNV Benign 779641 6:32797747-32797747 6:32829970-32829970
195 TAPBP NM_003190.5(TAPBP):c.103G>A (p.Gly35Arg)SNV Benign 785728 6:33281576-33281576 6:33313799-33313799
196 TAP1 NM_000593.5(TAP1):c.617C>T (p.Ala206Val)SNV Benign 771394 6:32820977-32820977 6:32853200-32853200
197 TAP2 NM_000544.3(TAP2):c.162G>A (p.Lys54=)SNV Benign 534726 rs56064400 6:32805849-32805849 6:32838072-32838072
198 TAP2 NM_000544.3(TAP2):c.1158G>T (p.Gly386=)SNV Benign 626026 rs2228397 6:32800224-32800224 6:32832447-32832447
199 TAP2 NM_001290043.2(TAP2):c.1399G>A (p.Val467Ile)SNV Benign 768076 6:32798457-32798457 6:32830680-32830680
200 TAP2 NM_001290043.2(TAP2):c.1398G>A (p.Gly466=)SNV Benign 768077 6:32798458-32798458 6:32830681-32830681
201 TAP1 NM_000593.5(TAP1):c.645C>T (p.His215=)SNV Benign 534723 rs56016563 6:32820949-32820949 6:32853172-32853172
202 TAP1 NM_000593.5(TAP1):c.161G>A (p.Arg54Gln)SNV Benign 534724 rs113585939 6:32821433-32821433 6:32853656-32853656
203 TAP1 NM_000593.5(TAP1):c.768C>G (p.Leu256=)SNV Benign 534716 rs2228109 6:32820826-32820826 6:32853049-32853049
204 TAP1 NM_000593.5(TAP1):c.618G>A (p.Ala206=)SNV Benign 466390 rs78410191 6:32820976-32820976 6:32853199-32853199
205 TAP1 NM_000593.5(TAP1):c.603T>C (p.Val201=)SNV Benign 466389 rs55702652 6:32820991-32820991 6:32853214-32853214
206 TAPBP NM_003190.4(TAPBP):c.1239C>T (p.Ser413=)SNV Benign 466396 rs34132052 6:33271966-33271966 6:33304189-33304189
207 TAPBP NM_003190.4(TAPBP):c.573C>T (p.Ala191=)SNV Benign 534725 rs34349100 6:33273061-33273061 6:33305284-33305284
208 TAP2 NM_000544.3(TAP2):c.1920G>A (p.Gln640=)SNV Benign 534715 rs145894663 6:32797189-32797189 6:32829412-32829412
209 TAP1 NM_000593.5(TAP1):c.1037C>T (p.Ser346Phe)SNV Benign 534721 rs2228111 6:32818914-32818914 6:32851137-32851137
210 TAPBP NM_003190.4(TAPBP):c.1252C>T (p.Leu418=)SNV Benign 466397 rs144706539 6:33271953-33271953 6:33304176-33304176
211 TAP1 NM_000593.5(TAP1):c.910G>T (p.Val304Leu)SNV Benign 466391 rs36229525 6:32820000-32820000 6:32852223-32852223
212 TAP1 NM_000593.5(TAP1):c.1289C>T (p.Ala430Val)SNV Benign 466377 rs2127679 6:32818236-32818236 6:32850459-32850459
213 TAP1 NM_000593.5(TAP1):c.942C>T (p.Gly314=)SNV Benign 466393 rs41549617 6:32819968-32819968 6:32852191-32852191
214 TAP1 NM_000593.5(TAP1):c.229G>C (p.Gly77Arg)SNV Benign 466385 rs57640466 6:32821365-32821365 6:32853588-32853588
215 TAPBP NM_003190.4(TAPBP):c.972G>A (p.Gly324=)SNV Benign 466400 rs61739590 6:33272312-33272312 6:33304535-33304535
216 TAP1 NM_000593.5(TAP1):c.2362C>A (p.Gln788Lys)SNV Benign 466386 rs74897484 6:32813421-32813421 6:32845644-32845644
217 TAP2 NM_000544.3(TAP2):c.1374G>A (p.Thr458=)SNV Benign 466366 rs149495208 6:32798482-32798482 6:32830705-32830705
218 TAP2 NM_000544.3(TAP2):c.2091T>G (p.Val697=)SNV Benign 466371 rs241449 6:32796653-32796653 6:32828876-32828876
219 TAP1 NM_000593.5(TAP1):c.2123G>A (p.Arg708Gln)SNV Benign 466383 rs1057149 6:32814942-32814942 6:32847165-32847165
220 TAP2 NM_000544.3(TAP2):c.1826C>T (p.Ala609Val)SNV Benign 466369 rs74770812 6:32797283-32797283 6:32829506-32829506
221 TAP2 NM_000544.3(TAP2):c.1161G>A (p.Val387=)SNV Benign 466365 rs2856992 6:32800221-32800221 6:32832444-32832444
222 TAP2 NM_000544.3(TAP2):c.1144-6_1144-5delinsACindel Benign 466363 rs386699797 6:32800243-32800244 6:32832466-32832467
223 TAP2 NM_000544.3(TAP2):c.1120G>A (p.Ala374Thr)SNV Benign 466362 rs111303994 6:32800427-32800427 6:32832650-32832650
224 TAP2 NM_000544.3(TAP2):c.4C>T (p.Arg2Trp)SNV Benign 466373 rs61736918 6:32806007-32806007 6:32838230-32838230
225 TAP1 NM_000593.5(TAP1):c.1732G>A (p.Val578Ile)SNV Benign 466382 rs41561219 6:32816443-32816443 6:32848666-32848666
226 TAP1 NM_000593.5(TAP1):c.1552G>T (p.Val518Leu)SNV Benign 466381 rs41550019 6:32816772-32816772 6:32848995-32848995
227 TAP1 NM_000593.5(TAP1):c.1435G>T (p.Gly479Cys)SNV Benign 466380 rs2228110 6:32816889-32816889 6:32849112-32849112
228 TAP2 NM_000544.3(TAP2):c.1993= (p.Ala665=)SNV Benign 403511 rs241447 6:32796751-32796751 6:32828974-32828974
229 TAP2 NM_000544.3(TAP2):c.2059= (p.Gln687=)SNV Benign 403510 rs241448 6:32796685-32796685 6:32828908-32828908
230 TAPBP NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg)SNV Benign 403518 rs2071888 6:33272855-33272855 6:33305078-33305078
231 TAP2 NM_018833.2(TAP2):c.1398_1399delinsAA (p.Val467Ile)indel Benign 466367 rs369909014 6:32798457-32798458 6:32830680-32830681
232 TAP2 NM_000544.3(TAP2):c.918G>A (p.Ala306=)SNV Benign 466375 rs556799828 6:32802958-32802958 6:32835181-32835181
233 TAP2 NM_000544.3(TAP2):c.658C>A (p.Arg220=)SNV Benign 466374 rs142794316 6:32803501-32803501 6:32835724-32835724
234 TAP2 NM_000544.3(TAP2):c.222C>A (p.Pro74=)SNV Benign 466372 rs2229526 6:32805789-32805789 6:32838012-32838012
235 TAP1 NM_000593.5(TAP1):c.2163G>A (p.Pro721=)SNV Benign 466384 rs41551515 6:32814902-32814902 6:32847125-32847125

Expression for Immunodeficiency by Defective Expression of Mhc Class I

Search GEO for disease gene expression data for Immunodeficiency by Defective Expression of Mhc Class I.

Pathways for Immunodeficiency by Defective Expression of Mhc Class I

Pathways related to Immunodeficiency by Defective Expression of Mhc Class I according to GeneCards Suite gene sharing:

(showing 11, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 TAPBP TAP2 TAP1 B2M
2
Show member pathways
12.91 TAPBP TAP2 TAP1 B2M
3
Show member pathways
12.47 TAPBP TAP2 TAP1 B2M
4
Show member pathways
12.36 TAPBP TAP2 TAP1 B2M
5
Show member pathways
12.26 TAPBP TAP2 TAP1 B2M
6 12.15 TAPBP TAP2 TAP1 B2M
7 12.09 TAP2 TAP1 B2M
8
Show member pathways
11.7 TAPBP TAP2 TAP1 B2M
9 11.66 TAP2 TAP1
10 11.04 TAP2 TAP1
11 10.32 TAPBP TAP2 TAP1 B2M

GO Terms for Immunodeficiency by Defective Expression of Mhc Class I

Cellular components related to Immunodeficiency by Defective Expression of Mhc Class I according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.54 TAPBP TAP2 TAP1
2 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.43 TAPBP TAP2 TAP1
3 integral component of endoplasmic reticulum membrane GO:0030176 9.32 TAP2 TAP1
4 phagocytic vesicle membrane GO:0030670 9.26 TAPBP TAP2 TAP1 B2M
5 TAP complex GO:0042825 9.16 TAP2 TAP1
6 MHC class I peptide loading complex GO:0042824 8.92 TAPBP TAP2 TAP1 B2M

Biological processes related to Immunodeficiency by Defective Expression of Mhc Class I according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.58 TAP2 TAP1 B2M
2 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.56 TAPBP TAP2 TAP1 B2M
3 peptide transport GO:0015833 9.5 TAPBP TAP2 TAP1
4 cytosol to ER transport GO:0046967 9.37 TAP2 TAP1
5 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.33 TAPBP TAP2 TAP1
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 TAPBP TAP2 TAP1 B2M
7 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 8.92 TAPBP TAP2 TAP1 B2M

Molecular functions related to Immunodeficiency by Defective Expression of Mhc Class I according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.49 TAP2 TAP1
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.48 TAP2 TAP1
3 peptide antigen binding GO:0042605 9.46 TAPBP TAP1
4 MHC protein binding GO:0042287 9.43 TAP2 TAP1
5 peptide transmembrane transporter activity GO:1904680 9.4 TAP2 TAP1
6 MHC class Ib protein binding GO:0023029 9.37 TAP2 TAP1
7 MHC class I protein binding GO:0042288 9.33 TAPBP TAP2 TAP1
8 peptide-transporting ATPase activity GO:0015440 9.32 TAP2 TAP1
9 TAP2 binding GO:0046979 9.26 TAPBP TAP1
10 TAP1 binding GO:0046978 9.13 TAPBP TAP2 TAP1
11 peptide antigen-transporting ATPase activity GO:0015433 8.8 TAPBP TAP2 TAP1

Sources for Immunodeficiency by Defective Expression of Mhc Class I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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