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, insulin-dependent 9.3 TAP2 TAP1 B2M
19 diabetes mellitus 9.2 TAP2 TAP1 B2M
20 spondyloarthropathy 1 9.1 TAPBP TAP2 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

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 143, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TAP2 TAP2, 1-BP DELdeletion Pathogenic 13728
2 TAP1 TAP1, IVS1, G-A, -1SNV Pathogenic 13732
3 TAP2 NM_000544.3(TAP2):c.817C>T (p.Arg273Ter)SNV Pathogenic 13727 6:32803059-32803059 6:32835282-32835282
4 TAPBP TAPBP, 7.4-KB DELdeletion Pathogenic 7606
5 TAP2 NM_000544.3(TAP2):c.958del (p.Glu320fs)deletion Pathogenic 571072 rs1562331529 6:32800589-32800589 6:32832812-32832812
6 TAP1 NM_000593.5(TAP1):c.1151C>G (p.Ser384Ter)SNV Pathogenic 642101 6:32818800-32818800 6:32851023-32851023
7 TAP2 NM_000544.3(TAP2):c.217_218del (p.Thr73fs)deletion Likely pathogenic 626224 rs1321880935 6:32805793-32805794 6:32838016-32838017
8 TAP2 NM_000544.3(TAP2):c.1272+1G>ASNV Likely pathogenic 534707 rs1222208628 6:32800109-32800109 6:32832332-32832332
9 TAP1 NM_000593.5(TAP1):c.1727C>T (p.Pro576Leu)SNV Conflicting interpretations of pathogenicity 534714 rs2228106 6:32816448-32816448 6:32848671-32848671
10 TAP1 NM_000593.5(TAP1):c.1231-3C>TSNV Conflicting interpretations of pathogenicity 534731 rs56366814 6:32818297-32818297 6:32850520-32850520
11 TAPBP NM_003190.4(TAPBP):c.1258G>A (p.Ala420Thr)SNV Uncertain significance 534708 rs1382572674 6:33271947-33271947 6:33304170-33304170
12 TAPBP NM_003190.4(TAPBP):c.845del (p.Val282fs)deletion Uncertain significance 534706 rs765712832 6:33272789-33272789 6:33305012-33305012
13 TAPBP NM_003190.4(TAPBP):c.161C>T (p.Pro54Leu)SNV Uncertain significance 534702 rs139155669 6:33281518-33281518 6:33313741-33313741
14 TAP1 NM_000593.5(TAP1):c.496_516dup (p.Ala166_Leu172dup)duplication Uncertain significance 534704 rs1311169361 6:32821078-32821098 6:32853301-32853321
15 TAP2 NM_000544.3(TAP2):c.1776G>A (p.Met592Ile)SNV Uncertain significance 534713 rs147150415 6:32797726-32797726 6:32829949-32829949
16 TAP2 NM_000544.3(TAP2):c.656C>T (p.Ser219Phe)SNV Uncertain significance 534711 rs1554235670 6:32803503-32803503 6:32835726-32835726
17 TAP2 NM_000544.3(TAP2):c.359G>T (p.Ser120Ile)SNV Uncertain significance 534701 rs932756573 6:32805652-32805652 6:32837875-32837875
18 TAP2 NM_000544.3(TAP2):c.1909C>A (p.Leu637Ile)SNV Uncertain significance 466370 rs752068310 6:32797200-32797200 6:32829423-32829423
19 TAP1 NM_000593.5(TAP1):c.2399T>C (p.Val800Ala)SNV Uncertain significance 466387 rs1554242514 6:32813384-32813384 6:32845607-32845607
20 TAP1 NM_000593.5(TAP1):c.989G>A (p.Arg330His)SNV Uncertain significance 466394 rs140245535 6:32819921-32819921 6:32852144-32852144
21 TAPBP NM_003190.4(TAPBP):c.1181G>A (p.Arg394His)SNV Uncertain significance 466395 rs763198738 6:33272103-33272103 6:33304326-33304326
22 TAPBP NM_003190.4(TAPBP):c.464C>G (p.Ala155Gly)SNV Uncertain significance 466398 rs747106102 6:33280999-33280999 6:33313222-33313222
23 TAP1 NM_000593.5(TAP1):c.122C>T (p.Pro41Leu)SNV Uncertain significance 466376 rs554237124 6:32821472-32821472 6:32853695-32853695
24 TAP1 NM_000593.5(TAP1):c.919G>A (p.Gly307Arg)SNV Uncertain significance 466392 rs59328013 6:32819991-32819991 6:32852214-32852214
25 TAP1 NM_000593.5(TAP1):c.1300A>T (p.Met434Leu)SNV Uncertain significance 466378 rs779844691 6:32818225-32818225 6:32850448-32850448
26 TAP1 NM_000593.5(TAP1):c.1313G>A (p.Arg438Gln)SNV Uncertain significance 466379 rs373810087 6:32818212-32818212 6:32850435-32850435
27 TAP1 NM_000593.5(TAP1):c.2156G>A (p.Arg719Gln)SNV Uncertain significance 13731 rs121917702 6:32814909-32814909 6:32847132-32847132
28 TAPBP NM_003190.4(TAPBP):c.562A>T (p.Thr188Ser)SNV Uncertain significance 466399 rs561629511 6:33273072-33273072 6:33305295-33305295
29 TAP2 NM_000544.3(TAP2):c.2005G>A (p.Ala669Thr)SNV Uncertain significance 641118 6:32796739-32796739 6:32828962-32828962
30 TAP2 NM_000544.3(TAP2):c.1852G>T (p.Ala618Ser)SNV Uncertain significance 649505 6:32797257-32797257 6:32829480-32829480
31 TAP2 NM_000544.3(TAP2):c.1769A>G (p.Gln590Arg)SNV Uncertain significance 664292 6:32797733-32797733 6:32829956-32829956
32 TAP2 NM_000544.3(TAP2):c.1720G>A (p.Asp574Asn)SNV Uncertain significance 661661 6:32797782-32797782 6:32830005-32830005
33 TAP2 NM_000544.3(TAP2):c.1714G>A (p.Glu572Lys)SNV Uncertain significance 639852 6:32797788-32797788 6:32830011-32830011
34 TAP2 NM_000544.3(TAP2):c.1655A>G (p.Glu552Gly)SNV Uncertain significance 640861 6:32797847-32797847 6:32830070-32830070
35 TAP2 NM_000544.3(TAP2):c.1373C>T (p.Thr458Met)SNV Uncertain significance 641651 6:32798483-32798483 6:32830706-32830706
36 TAP2 NM_000544.3(TAP2):c.818G>A (p.Arg273Gln)SNV Uncertain significance 642994 6:32803058-32803058 6:32835281-32835281
37 TAP2 NM_000544.3(TAP2):c.100G>A (p.Gly34Arg)SNV Uncertain significance 643299 6:32805911-32805911 6:32838134-32838134
38 TAP1 NM_000593.5(TAP1):c.2005A>G (p.Met669Val)SNV Uncertain significance 644588 6:32815368-32815368 6:32847591-32847591
39 TAP1 NM_000593.5(TAP1):c.1637C>T (p.Pro546Leu)SNV Uncertain significance 647622 6:32816538-32816538 6:32848761-32848761
40 TAP1 NM_000593.5(TAP1):c.1534A>G (p.Met512Val)SNV Uncertain significance 659028 6:32816790-32816790 6:32849013-32849013
41 TAP2 NM_000544.3(TAP2):c.727G>A (p.Glu243Lys)SNV Uncertain significance 575479 rs1473544417 6:32803432-32803432 6:32835655-32835655
42 TAP2 NM_000544.3(TAP2):c.460G>T (p.Ala154Ser)SNV Uncertain significance 578313 rs1562339896 6:32805551-32805551 6:32837774-32837774
43 TAP1 NM_000593.5(TAP1):c.2311C>G (p.His771Asp)SNV Uncertain significance 569257 6:32813472-32813472 6:32845695-32845695
44 TAP1 NM_000593.5(TAP1):c.1781C>T (p.Thr594Met)SNV Uncertain significance 582193 6:32815835-32815835 6:32848058-32848058
45 TAP1 NM_000593.5(TAP1):c.809G>A (p.Arg270His)SNV Uncertain significance 582202 6:32820249-32820249 6:32852472-32852472
46 TAP1 NM_000593.5(TAP1):c.504G>A (p.Pro168=)SNV Uncertain significance 580787 6:32821090-32821090 6:32853313-32853313
47 TAP1 NM_000593.5(TAP1):c.191C>T (p.Ser64Phe)SNV Uncertain significance 566325 6:32821403-32821403 6:32853626-32853626
48 TAP1 NM_000593.5(TAP1):c.128G>C (p.Arg43Pro)SNV Uncertain significance 570179 6:32821466-32821466 6:32853689-32853689
49 TAPBP NM_003190.4(TAPBP):c.590C>T (p.Pro197Leu)SNV Uncertain significance 574706 6:33273044-33273044 6:33305267-33305267
50 TAP1 NM_000593.5(TAP1):c.1383C>G (p.Asn461Lys)SNV Uncertain significance 534703 rs756823000 6:32818142-32818142 6:32850365-32850365
51 TAP1 NM_000593.5(TAP1):c.1157C>A (p.Ser386Tyr)SNV Uncertain significance 534709 rs779346609 6:32818794-32818794 6:32851017-32851017
52 TAP1 NM_000593.5(TAP1):c.590C>G (p.Pro197Arg)SNV Uncertain significance 534705 rs1010241068 6:32821004-32821004 6:32853227-32853227
53 TAP2 NM_000544.3(TAP2):c.848G>C (p.Gly283Ala)SNV Uncertain significance 534712 rs1278521116 6:32803028-32803028 6:32835251-32835251
54 TAPBP NM_003190.4(TAPBP):c.369G>A (p.Trp123Ter)SNV Uncertain significance 534710 rs1554279286 6:33281094-33281094 6:33313317-33313317
55 TAP2 NM_000544.3(TAP2):c.529A>T (p.Ile177Phe)SNV Uncertain significance 569565 6:32805393-32805393 6:32837616-32837616
56 TAP1 NM_000593.5(TAP1):c.2137T>A (p.Leu713Met)SNV Uncertain significance 579634 6:32814928-32814928 6:32847151-32847151
57 TAPBP NM_003190.4(TAPBP):c.1180C>T (p.Arg394Cys)SNV Uncertain significance 578410 6:33272104-33272104 6:33304327-33304327
58 TAPBP NM_003190.4(TAPBP):c.1069G>A (p.Asp357Asn)SNV Uncertain significance 576167 6:33272215-33272215 6:33304438-33304438
59 TAP2 NM_000544.3(TAP2):c.701T>A (p.Leu234Gln)SNV Uncertain significance 574783 6:32803458-32803458 6:32835681-32835681
60 TAP1 NM_000593.5(TAP1):c.1699G>A (p.Asp567Asn)SNV Uncertain significance 579991 6:32816476-32816476 6:32848699-32848699
61 TAP1 NM_000593.5(TAP1):c.295G>T (p.Ala99Ser)SNV Uncertain significance 577447 6:32821299-32821299 6:32853522-32853522
62 TAP1 NM_000593.5(TAP1):c.199C>T (p.Pro67Ser)SNV Uncertain significance 582649 6:32821395-32821395 6:32853618-32853618
63 TAP2 NM_000544.3(TAP2):c.1588G>A (p.Asp530Asn)SNV Uncertain significance 571127 6:32798091-32798091 6:32830314-32830314
64 TAP2 NM_000544.3(TAP2):c.703C>T (p.Arg235Cys)SNV Uncertain significance 566833 6:32803456-32803456 6:32835679-32835679
65 TAP1 NM_000593.5(TAP1):c.1903C>T (p.Arg635Cys)SNV Uncertain significance 581678 rs1168560265 6:32815713-32815713 6:32847936-32847936
66 TAP1 NM_000593.5(TAP1):c.869T>C (p.Leu290Pro)SNV Uncertain significance 576027 rs1562373816 6:32820189-32820189 6:32852412-32852412
67 TAP2 NM_000544.3(TAP2):c.1334C>T (p.Ser445Phe)SNV Uncertain significance 575772 6:32798522-32798522 6:32830745-32830745
68 TAP2 NM_000544.3(TAP2):c.1318G>T (p.Ala440Ser)SNV Uncertain significance 578761 6:32798538-32798538 6:32830761-32830761
69 TAP1 NM_000593.5(TAP1):c.289C>T (p.Arg97Trp)SNV Uncertain significance 654569 6:32821305-32821305 6:32853528-32853528
70 TAP1 NM_000593.5(TAP1):c.184G>A (p.Ala62Thr)SNV Uncertain significance 665818 6:32821410-32821410 6:32853633-32853633
71 TAP1 NM_000593.5(TAP1):c.73C>T (p.Pro25Ser)SNV Uncertain significance 640487 6:32821521-32821521 6:32853744-32853744
72 TAPBP NM_003190.4(TAPBP):c.1046T>C (p.Leu349Pro)SNV Uncertain significance 639896 6:33272238-33272238 6:33304461-33304461
73 TAPBP NM_003190.4(TAPBP):c.1001G>A (p.Gly334Asp)SNV Uncertain significance 665431 6:33272283-33272283 6:33304506-33304506
74 TAPBP NM_003190.4(TAPBP):c.974G>A (p.Gly325Asp)SNV Uncertain significance 661409 6:33272310-33272310 6:33304533-33304533
75 TAPBP NM_003190.4(TAPBP):c.932C>T (p.Pro311Leu)SNV Uncertain significance 661969 6:33272352-33272352 6:33304575-33304575
76 TAPBP NM_003190.4(TAPBP):c.872C>A (p.Pro291His)SNV Uncertain significance 651374 6:33272412-33272412 6:33304635-33304635
77 TAPBP NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser)SNV Uncertain significance 661809 6:33273033-33273033 6:33305256-33305256
78 TAPBP NM_003190.4(TAPBP):c.562A>G (p.Thr188Ala)SNV Uncertain significance 657524 6:33273072-33273072 6:33305295-33305295
79 TAPBP NM_003190.4(TAPBP):c.556C>T (p.Pro186Ser)SNV Uncertain significance 648764 6:33273078-33273078 6:33305301-33305301
80 TAPBP NM_172209.3(TAPBP):c.208+320deldeletion Uncertain significance 656048 6:33281151-33281151 6:33313376-33313376
81 TAP2 NM_000544.3(TAP2):c.1933-6_1933-3deldeletion Uncertain significance 657703 6:32796814-32796817 6:32829037-32829040
82 TAPBP NM_003190.4(TAPBP):c.129_470-3609deldeletion Uncertain significance 646471 6:33308996-33313773
83 TAP1 NM_000593.5(TAP1):c.2220+6G>ASNV Uncertain significance 640506 6:32814839-32814839 6:32847062-32847062
84 TAP1 NM_000593.5(TAP1):c.1558-4C>GSNV Uncertain significance 655699 6:32816621-32816621 6:32848844-32848844
85 TAPBP NM_003190.4(TAPBP):c.1300+3_1300+6deldeletion Uncertain significance 649689 6:33271899-33271902 6:33304122-33304125
86 TAPBP NM_003190.4(TAPBP):c.591G>A (p.Pro197=)SNV Uncertain significance 626175 rs200497341 6:33273043-33273043 6:33305266-33305266
87 TAPBP NM_003190.4(TAPBP):c.563C>T (p.Thr188Ile)SNV Likely benign 534737 rs142455342 6:33273071-33273071 6:33305294-33305294
88 TAPBP NM_003190.4(TAPBP):c.174_175delinsTT (p.Asp59Tyr)indel Likely benign 534730 rs1554279472 6:33281504-33281505 6:33313727-33313728
89 TAP1 NM_000593.5(TAP1):c.508C>G (p.Leu170Val)SNV Likely benign 534738 rs2228108 6:32821086-32821086 6:32853309-32853309
90 TAP1 NM_000593.5(TAP1):c.339A>G (p.Pro113=)SNV Likely benign 534735 rs144037908 6:32821255-32821255 6:32853478-32853478
91 TAP2 NM_000544.3(TAP2):c.1147C>T (p.Leu383=)SNV Likely benign 466364 rs761704456 6:32800235-32800235 6:32832458-32832458
92 TAP1 NM_000593.5(TAP1):c.572T>C (p.Leu191Pro)SNV Likely benign 466388 rs142907576 6:32821022-32821022 6:32853245-32853245
93 TAP2 NM_000544.3(TAP2):c.1752C>T (p.His584=)SNV Likely benign 466368 rs144543918 6:32797750-32797750 6:32829973-32829973
94 TAP1 NM_000593.5(TAP1):c.1335C>T (p.Gly445=)SNV Likely benign 534727 rs139907578 6:32818190-32818190 6:32850413-32850413
95 TAP2 NM_000544.3(TAP2):c.983C>G (p.Ala328Gly)SNV Likely benign 534733 rs148663600 6:32800564-32800564 6:32832787-32832787
96 TAP1 NM_000593.5(TAP1):c.66G>C (p.Ser22=)SNV Likely benign 534739 rs760815768 6:32821528-32821528 6:32853751-32853751
97 TAPBP NM_003190.4(TAPBP):c.1234G>A (p.Asp412Asn)SNV Likely benign 534736 rs138516982 6:33271971-33271971 6:33304194-33304194
98 TAPBP NM_003190.4(TAPBP):c.753C>T (p.Thr251=)SNV Likely benign 534734 rs147684698 6:33272881-33272881 6:33305104-33305104
99 TAP2 NM_000544.3(TAP2):c.235C>T (p.Leu79=)SNV Likely benign 534722 rs749689805 6:32805776-32805776 6:32837999-32837999
100 TAP1 NM_000593.5(TAP1):c.1773C>T (p.Gly591=)SNV Likely benign 534718 rs144951468 6:32815843-32815843 6:32848066-32848066
101 TAP2 NM_000544.3(TAP2):c.1827G>A (p.Ala609=)SNV Likely benign 534732 rs764437170 6:32797282-32797282 6:32829505-32829505
102 TAP1 NM_000593.5(TAP1):c.2256C>T (p.Tyr752=)SNV Likely benign 534729 rs56337036 6:32813527-32813527 6:32845750-32845750
103 TAP2 NM_000544.3(TAP2):c.970G>A (p.Ala324Thr)SNV Likely benign 534728 rs143726288 6:32800577-32800577 6:32832800-32832800
104 TAP2 NM_000544.3(TAP2):c.2070G>A (p.Gln690=)SNV Likely benign 534717 rs770581305 6:32796674-32796674 6:32828897-32828897
105 TAP1 NM_000593.5(TAP1):c.12T>G (p.Leu4=)SNV Likely benign 534720 rs148176741 6:32821582-32821582 6:32853805-32853805
106 TAP2 NM_000544.3(TAP2):c.44T>C (p.Val15Ala)SNV Benign/Likely benign 377081 rs55827768 6:32805967-32805967 6:32838190-32838190
107 TAP2 NM_018833.2(TAP2):c.1398_1399delinsAA (p.Val467Ile)indel Benign 466367 rs369909014 6:32798457-32798458 6:32830680-32830681
108 TAP2 NM_000544.3(TAP2):c.918G>A (p.Ala306=)SNV Benign 466375 rs556799828 6:32802958-32802958 6:32835181-32835181
109 TAP2 NM_000544.3(TAP2):c.658C>A (p.Arg220=)SNV Benign 466374 rs142794316 6:32803501-32803501 6:32835724-32835724
110 TAP2 NM_000544.3(TAP2):c.222C>A (p.Pro74=)SNV Benign 466372 rs2229526 6:32805789-32805789 6:32838012-32838012
111 TAP1 NM_000593.5(TAP1):c.2163G>A (p.Pro721=)SNV Benign 466384 rs41551515 6:32814902-32814902 6:32847125-32847125
112 TAP2 NM_000544.3(TAP2):c.1826C>T (p.Ala609Val)SNV Benign 466369 rs74770812 6:32797283-32797283 6:32829506-32829506
113 TAP2 NM_000544.3(TAP2):c.1161G>A (p.Val387=)SNV Benign 466365 rs2856992 6:32800221-32800221 6:32832444-32832444
114 TAP2 NM_000544.3(TAP2):c.1144-6_1144-5delinsACindel Benign 466363 rs386699797 6:32800243-32800244 6:32832466-32832467
115 TAP2 NM_000544.3(TAP2):c.1120G>A (p.Ala374Thr)SNV Benign 466362 rs111303994 6:32800427-32800427 6:32832650-32832650
116 TAP2 NM_000544.3(TAP2):c.4C>T (p.Arg2Trp)SNV Benign 466373 rs61736918 6:32806007-32806007 6:32838230-32838230
117 TAP1 NM_000593.5(TAP1):c.1435G>T (p.Gly479Cys)SNV Benign 466380 rs2228110 6:32816889-32816889 6:32849112-32849112
118 TAP1 NM_000593.5(TAP1):c.2123G>A (p.Arg708Gln)SNV Benign 466383 rs1057149 6:32814942-32814942 6:32847165-32847165
119 TAP1 NM_000593.5(TAP1):c.1732G>A (p.Val578Ile)SNV Benign 466382 rs41561219 6:32816443-32816443 6:32848666-32848666
120 TAP1 NM_000593.5(TAP1):c.1552G>T (p.Val518Leu)SNV Benign 466381 rs41550019 6:32816772-32816772 6:32848995-32848995
121 TAP2 NM_000544.3(TAP2):c.2059C>T (p.Gln687Ter)SNV Benign 13726 rs241448 6:32796685-32796685 6:32828908-32828908
122 TAP2 NM_000544.3(TAP2):c.1993G>A (p.Ala665Thr)SNV Benign 13725 rs241447 6:32796751-32796751 6:32828974-32828974
123 TAP2 NM_000544.3(TAP2):c.2091T>G (p.Val697=)SNV Benign 466371 rs241449 6:32796653-32796653 6:32828876-32828876
124 TAPBP NM_003190.4(TAPBP):c.1252C>T (p.Leu418=)SNV Benign 466397 rs144706539 6:33271953-33271953 6:33304176-33304176
125 TAP1 NM_000593.5(TAP1):c.910G>T (p.Val304Leu)SNV Benign 466391 rs36229525 6:32820000-32820000 6:32852223-32852223
126 TAP1 NM_000593.5(TAP1):c.1289C>T (p.Ala430Val)SNV Benign 466377 rs2127679 6:32818236-32818236 6:32850459-32850459
127 TAP1 NM_000593.5(TAP1):c.942C>T (p.Gly314=)SNV Benign 466393 rs41549617 6:32819968-32819968 6:32852191-32852191
128 TAP1 NM_000593.5(TAP1):c.229G>C (p.Gly77Arg)SNV Benign 466385 rs57640466 6:32821365-32821365 6:32853588-32853588
129 TAPBP NM_003190.4(TAPBP):c.972G>A (p.Gly324=)SNV Benign 466400 rs61739590 6:33272312-33272312 6:33304535-33304535
130 TAP1 NM_000593.5(TAP1):c.645C>T (p.His215=)SNV Benign 534723 rs56016563 6:32820949-32820949 6:32853172-32853172
131 TAP1 NM_000593.5(TAP1):c.161G>A (p.Arg54Gln)SNV Benign 534724 rs113585939 6:32821433-32821433 6:32853656-32853656
132 TAP1 NM_000593.5(TAP1):c.768C>G (p.Leu256=)SNV Benign 534716 rs2228109 6:32820826-32820826 6:32853049-32853049
133 TAP2 NM_000544.3(TAP2):c.1462-7T>CSNV Benign 534719 rs201974007 6:32798224-32798224 6:32830447-32830447
134 TAPBP NM_003190.4(TAPBP):c.573C>T (p.Ala191=)SNV Benign 534725 rs34349100 6:33273061-33273061 6:33305284-33305284
135 TAP2 NM_000544.3(TAP2):c.1920G>A (p.Gln640=)SNV Benign 534715 rs145894663 6:32797189-32797189 6:32829412-32829412
136 TAP1 NM_000593.5(TAP1):c.1037C>T (p.Ser346Phe)SNV Benign 534721 rs2228111 6:32818914-32818914 6:32851137-32851137
137 TAP1 NM_000593.5(TAP1):c.618G>A (p.Ala206=)SNV Benign 466390 rs78410191 6:32820976-32820976 6:32853199-32853199
138 TAP1 NM_000593.5(TAP1):c.603T>C (p.Val201=)SNV Benign 466389 rs55702652 6:32820991-32820991 6:32853214-32853214
139 TAPBP NM_003190.4(TAPBP):c.1239C>T (p.Ser413=)SNV Benign 466396 rs34132052 6:33271966-33271966 6:33304189-33304189
140 TAP1 NM_000593.5(TAP1):c.2362C>A (p.Gln788Lys)SNV Benign 466386 rs74897484 6:32813421-32813421 6:32845644-32845644
141 TAP2 NM_000544.3(TAP2):c.1374G>A (p.Thr458=)SNV Benign 466366 rs149495208 6:32798482-32798482 6:32830705-32830705
142 TAP2 NM_000544.3(TAP2):c.162G>A (p.Lys54=)SNV Benign 534726 rs56064400 6:32805849-32805849 6:32838072-32838072
143 TAP2 NM_000544.3(TAP2):c.1158G>T (p.Gly386=)SNV Benign 626026 rs2228397 6:32800224-32800224 6:32832447-32832447

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
12.46 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 class I protein binding GO:0042288 9.43 TAPBP TAP1
5 MHC protein binding GO:0042287 9.4 TAP2 TAP1
6 peptide transmembrane transporter activity GO:1904680 9.37 TAP2 TAP1
7 MHC class Ib protein binding GO:0023029 9.32 TAP2 TAP1
8 peptide-transporting ATPase activity GO:0015440 9.26 TAP2 TAP1
9 TAP2 binding GO:0046979 9.16 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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