IMD35
MCID: IMM095
MIFTS: 50

Immunodeficiency 35 (IMD35)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 35

MalaCards integrated aliases for Immunodeficiency 35:

Name: Immunodeficiency 35 57 12 72 6 15
Tyrosine Kinase 2 Deficiency 57 12 72 29 13 44 70
Tyk2 Deficiency 57 12 72
Imd35 57 12 72
Autosomal Recessive Hyper-Ige Syndrome with Atypical Mycobacteriosis 12 72
Susceptibility to Infection Due to Tyk2 Deficiency 12 58
Hyper-Ige Syndrome with Atypical Mycobacteriosis, Autosomal Recessive 57
Autosomal Recessive Hyper-Ige Syndrome Due to Tyk2 Deficiency 58
Hies with Atypical Mycobacteriosis, Autosomal Recessive 57
Autosomal Recessive Hies with Atypical Mycobacteriosis 72
Autosomal Recessiv Hies with Atypical Mycobacteriosis 12

Characteristics:

Orphanet epidemiological data:

58
susceptibility to infection due to tyk2 deficiency
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
variable infectious phenotype


HPO:

31
immunodeficiency 35:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111989
OMIM® 57 611521
OMIM Phenotypic Series 57 PS300755
ICD10 via Orphanet 33 D82.4
UMLS via Orphanet 71 C1969086
Orphanet 58 ORPHA331226
MedGen 41 C1969086
SNOMED-CT via HPO 68 234532001 258211005
UMLS 70 C1969086

Summaries for Immunodeficiency 35

OMIM® : 57 Immunodeficiency-35 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015). (611521) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 35, also known as tyrosine kinase 2 deficiency, is related to dermatitis, atopic and candidiasis. An important gene associated with Immunodeficiency 35 is TYK2 (Tyrosine Kinase 2), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are recurrent respiratory infections and immunodeficiency

Disease Ontology : 12 A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has material basis in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 35: A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE.

Related Diseases for Immunodeficiency 35

Diseases related to Immunodeficiency 35 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 dermatitis, atopic 29.8 IL12RB1 IL10 ICOSLG CCR6
2 candidiasis 29.7 STAT3 STAT1 IL10
3 herpes zoster 29.6 JAK1 IL10 IFNA1 ICOSLG CCR6
4 hyper ige syndrome 29.1 ZNF341 TYK2 STAT3 PGM3 IL10 DOCK8
5 suppurative lymphadenitis 10.3 DOCK8 CCR6
6 immunodeficiency 16 10.2 IL12RB1 ICOSLG CCR6
7 immunodeficiency 31b 10.2 STAT1 IL12RB1
8 t cell deficiency 10.2 ICOSLG DOCK8 CCR6
9 jak3-deficient severe combined immunodeficiency 10.2 JAK3 JAK1
10 dermatophytosis 10.2 STAT1 IL12RB1 CCR6
11 childhood type dermatomyositis 10.2 IFNA1 ICOSLG CCR6
12 coccidioidomycosis 10.2 STAT1 IL12RB1 CCR6
13 igg4-related disease 10.2 IFNA1 ICOSLG CCR6
14 histoplasmosis 10.2 STAT1 IL12RB1 CCR6
15 geotrichosis 10.2 STAT1 JAK3
16 immunodeficiency 21 10.2 STAT1 IL12RB1 DOCK8
17 janus kinase-3 deficiency 10.2 PGM3 JAK3
18 mikulicz disease 10.2 IL10 CCR6
19 immunodeficiency 27a 10.1 STAT1 JAK1 IFNA1
20 stat3 hyper ige syndrome 10.1
21 subcutaneous mycosis 10.1 IL10 CCR6
22 progressive multifocal leukoencephalopathy 10.1 STAT1 ICOSLG CCR6
23 mixed lacrimal gland cancer 10.1 TYK2 STAT3 JAK1
24 breast implant-associated anaplastic large cell lymphoma 10.1 STAT3 JAK1 CCR6
25 lymphoblastic leukemia, acute, with lymphomatous features 10.1 JAK3 JAK1
26 immunodeficiency 28 10.1 IL12RB1 IFNAR1
27 alk-positive anaplastic large cell lymphoma 10.1 STAT3 JAK3
28 discoid lupus erythematosus 10.1 IL10 IFNA1
29 dacryoadenitis 10.1 IL10 ICOSLG CCR6
30 cd40 ligand deficiency 10.1 JAK3 ICOSLG DOCK8
31 legume allergy 10.1 IL10 ICOSLG CCR6
32 fruit allergy 10.1 IL10 ICOSLG CCR6
33 chronic conjunctivitis 10.1 IL10 ICOSLG CCR6
34 vaginal disease 10.1 IL10 IFNA1 CCR6
35 autoimmune disease of eyes, ear, nose and throat 10.1 IL10 ICOSLG CCR6
36 intestinal schistosomiasis 10.1 IL10 ICOSLG CCR6
37 primary thrombocytopenia 10.1 IL10 ICOSLG CCR6
38 covid-19 10.1 STAT1 JAK1 IFNA1
39 klebsiella pneumonia 10.1 IL10 ICOSLG CCR6
40 cutaneous lupus erythematosus 10.1 TYK2 IL10 IFNA1
41 coronavirus infectious disease 10.1 IL10 IFNA1 CCR6
42 transverse myelitis 10.1 IL10 ICOSLG CCR6
43 myelitis 10.1 IL10 ICOSLG CCR6
44 viral encephalitis 10.1 IL10 IFNA1 CCR6
45 autoimmune disease of peripheral nervous system 10.1 IL10 ICOSLG CCR6
46 lacrimal apparatus disease 10.1 IL10 ICOSLG CCR6
47 thrombocytopenia due to platelet alloimmunization 10.1 IL10 ICOSLG CCR6
48 autoimmune disease of blood 10.1 IL10 ICOSLG CCR6
49 respiratory allergy 10.1 IL10 ICOSLG CCR6
50 subacute sclerosing panencephalitis 10.0 IL12RB1 IL10 IFNA1

Graphical network of the top 20 diseases related to Immunodeficiency 35:



Diseases related to Immunodeficiency 35

Symptoms & Phenotypes for Immunodeficiency 35

Human phenotypes related to Immunodeficiency 35:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 immunodeficiency 31 HP:0002721
3 recurrent fungal infections 31 HP:0002841
4 recurrent viral infections 31 HP:0004429
5 recurrent mycobacterial infections 31 HP:0011274
6 increased circulating ige level 31 HP:0003212

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
recurrent respiratory infections

Skin Nails Hair Skin:
recurrent skin abscesses (rare)

Immunology:
immunodeficiency
normal numbers of immune cells
increased susceptibility to mycobacteria and intracellular bacteria
increased susceptibility to virus (in some patients)
impaired cellular responses to certain cytokine pathways
more

Clinical features from OMIM®:

611521 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 35 according to GeneCards Suite gene sharing:

26 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.91 IL10
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.91 IFNA1 IFNAR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.91 IL10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.91 STAT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.91 IL10
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.91 IFNAR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.91 IFNA1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.91 IFNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.91 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.91 IL10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.91 IFNA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-175 9.91 IFNA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.91 IFNAR1 STAT3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.91 IL10
15 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.91 IFNA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.91 IL10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.91 STAT3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.91 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.91 IFNAR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.91 IFNAR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.91 IFNAR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.91 IFNAR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.91 IL10
24 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.91 IL10
25 Increased shRNA abundance (Z-score > 2) GR00366-A-61 9.91 IFNA1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.91 IFNAR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.91 IL10
28 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.91 IL10
29 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.91 IL10
30 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.91 IFNAR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.91 IFNA1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.91 IFNA1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.91 IFNA1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.91 IL10
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.91 IL10 STAT3
36 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.91 IFNAR1
37 Decreased viability in CMK cells GR00105-A-0 8.96 JAK1 JAK3

MGI Mouse Phenotypes related to Immunodeficiency 35:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CCR6 DOCK8 IFNAR1 IL10 IL12RB1 JAK1
2 immune system MP:0005387 9.73 CCR6 DOCK8 IFNAR1 IL10 IL12RB1 JAK1
3 skeleton MP:0005390 9.23 IFNAR1 IL10 IL12RB1 JAK1 STAT1 STAT3

Drugs & Therapeutics for Immunodeficiency 35

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 35

Cochrane evidence based reviews: tyrosine kinase 2 deficiency

Genetic Tests for Immunodeficiency 35

Genetic tests related to Immunodeficiency 35:

# Genetic test Affiliating Genes
1 Tyrosine Kinase 2 Deficiency 29 TYK2

Anatomical Context for Immunodeficiency 35

MalaCards organs/tissues related to Immunodeficiency 35:

40
Skin, Bone, Bone Marrow, Lymph Node, Spinal Cord, Breast, Myeloid

Publications for Immunodeficiency 35

Articles related to Immunodeficiency 35:

# Title Authors PMID Year
1
A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. 57 61 6
22402565 2012
2
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. 57 6 61
17088085 2006
3
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. 6 57
26304966 2015
4
Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years. 6
33667394 2021
5
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. 6
30578352 2018
6
The hyper IgE syndrome and mutations in TYK2. 57
17521577 2007
7
Hyperimmunoglobulin E syndrome and tyrosine kinase 2 deficiency. 61
17989526 2007

Variations for Immunodeficiency 35

ClinVar genetic disease variations for Immunodeficiency 35:

6 (show top 50) (show all 320)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYK2 NM_003331.5(TYK2):c.209_212del (p.Cys70fs) Deletion Pathogenic 225508 rs770927552 GRCh37: 19:10479076-10479079
GRCh38: 19:10368400-10368403
2 TYK2 NM_003331.5(TYK2):c.2303_2311del (p.Ser768_Glu771delinsTer) Deletion Pathogenic 155930 rs869320745 GRCh37: 19:10468679-10468687
GRCh38: 19:10358003-10358011
3 TYK2 NM_003331.5(TYK2):c.149del (p.Ser50fs) Deletion Pathogenic 224887 rs879253732 GRCh37: 19:10488934-10488934
GRCh38: 19:10378258-10378258
4 TYK2 NM_003331.4(TYK2):c.3318_3319insC Insertion Pathogenic 224885 GRCh37:
GRCh38:
5 TYK2 NM_003331.5(TYK2):c.1912C>T (p.Arg638Ter) SNV Pathogenic 224888 rs201025290 GRCh37: 19:10472493-10472493
GRCh38: 19:10361817-10361817
6 TYK2 NM_003331.5(TYK2):c.460G>T (p.Glu154Ter) SNV Pathogenic 224886 rs879253731 GRCh37: 19:10478736-10478736
GRCh38: 19:10368060-10368060
7 TYK2 P1104A Variation Pathogenic 1065121 GRCh37:
GRCh38:
8 TYK2 NM_003331.5(TYK2):c.2909-2A>G SNV Likely pathogenic 583161 rs775578531 GRCh37: 19:10464324-10464324
GRCh38: 19:10353648-10353648
9 TYK2 NM_003331.5(TYK2):c.2670G>C (p.Thr890=) SNV Conflicting interpretations of pathogenicity 381269 rs144332908 GRCh37: 19:10465233-10465233
GRCh38: 19:10354557-10354557
10 TYK2 NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp) SNV Conflicting interpretations of pathogenicity 327950 rs201240289 GRCh37: 19:10475595-10475595
GRCh38: 19:10364919-10364919
11 TYK2 NM_003331.5(TYK2):c.2250C>T (p.Gly750=) SNV Conflicting interpretations of pathogenicity 378840 rs138652649 GRCh37: 19:10468740-10468740
GRCh38: 19:10358064-10358064
12 TYK2 NM_003331.5(TYK2):c.783C>G (p.Ala261=) SNV Conflicting interpretations of pathogenicity 536649 rs371939297 GRCh37: 19:10476421-10476421
GRCh38: 19:10365745-10365745
13 TYK2 NM_003331.5(TYK2):c.1869C>T (p.Asp623=) SNV Conflicting interpretations of pathogenicity 327944 rs140078545 GRCh37: 19:10472536-10472536
GRCh38: 19:10361860-10361860
14 TYK2 NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr) SNV Conflicting interpretations of pathogenicity 738010 rs200791116 GRCh37: 19:10469924-10469924
GRCh38: 19:10359248-10359248
15 TYK2 NM_003331.5(TYK2):c.2985C>T (p.Ile995=) SNV Conflicting interpretations of pathogenicity 327935 rs147442318 GRCh37: 19:10464246-10464246
GRCh38: 19:10353570-10353570
16 TYK2 NM_003331.5(TYK2):c.648G>A (p.Pro216=) SNV Conflicting interpretations of pathogenicity 788263 rs142642403 GRCh37: 19:10476556-10476556
GRCh38: 19:10365880-10365880
17 TYK2 NM_003331.5(TYK2):c.370C>T (p.Arg124Cys) SNV Uncertain significance 888602 GRCh37: 19:10478826-10478826
GRCh38: 19:10368150-10368150
18 TYK2 NM_003331.5(TYK2):c.329G>A (p.Arg110Gln) SNV Uncertain significance 888603 GRCh37: 19:10478867-10478867
GRCh38: 19:10368191-10368191
19 TYK2 NM_003331.5(TYK2):c.328C>T (p.Arg110Trp) SNV Uncertain significance 888604 GRCh37: 19:10478868-10478868
GRCh38: 19:10368192-10368192
20 TYK2 NM_003331.5(TYK2):c.*174G>A SNV Uncertain significance 889484 GRCh37: 19:10461336-10461336
GRCh38: 19:10350660-10350660
21 TYK2 NM_003331.5(TYK2):c.*173C>T SNV Uncertain significance 889485 GRCh37: 19:10461337-10461337
GRCh38: 19:10350661-10350661
22 TYK2 NM_003331.5(TYK2):c.2370C>T (p.Ser790=) SNV Uncertain significance 889545 GRCh37: 19:10468536-10468536
GRCh38: 19:10357860-10357860
23 TYK2 NM_003331.5(TYK2):c.2197G>A (p.Gly733Ser) SNV Uncertain significance 889546 GRCh37: 19:10468793-10468793
GRCh38: 19:10358117-10358117
24 TYK2 NM_003331.5(TYK2):c.2176-9C>T SNV Uncertain significance 889547 GRCh37: 19:10468823-10468823
GRCh38: 19:10358147-10358147
25 TYK2 NM_003331.5(TYK2):c.1444C>T (p.Arg482Cys) SNV Uncertain significance 889611 GRCh37: 19:10473257-10473257
GRCh38: 19:10362581-10362581
26 TYK2 NM_003331.5(TYK2):c.1398C>T (p.Pro466=) SNV Uncertain significance 736809 rs200752112 GRCh37: 19:10473303-10473303
GRCh38: 19:10362627-10362627
27 TYK2 NM_003331.5(TYK2):c.1254G>A (p.Ser418=) SNV Uncertain significance 889612 GRCh37: 19:10475403-10475403
GRCh38: 19:10364727-10364727
28 TYK2 NM_003331.5(TYK2):c.3239A>G (p.Tyr1080Cys) SNV Uncertain significance 327934 rs776034616 GRCh37: 19:10463189-10463189
GRCh38: 19:10352513-10352513
29 TYK2 NM_003331.5(TYK2):c.2618-14C>G SNV Uncertain significance 327939 rs532521303 GRCh37: 19:10465299-10465299
GRCh38: 19:10354623-10354623
30 TYK2 NM_003331.5(TYK2):c.3555C>T (p.Ser1185=) SNV Uncertain significance 714006 rs372903125 GRCh37: 19:10461519-10461519
GRCh38: 19:10350843-10350843
31 TYK2 NM_003331.5(TYK2):c.3525G>A (p.Lys1175=) SNV Uncertain significance 890157 GRCh37: 19:10461549-10461549
GRCh38: 19:10350873-10350873
32 TYK2 NM_003331.5(TYK2):c.3487G>A (p.Glu1163Lys) SNV Uncertain significance 890158 GRCh37: 19:10461587-10461587
GRCh38: 19:10350911-10350911
33 TYK2 NM_003331.5(TYK2):c.3236A>G (p.Tyr1079Cys) SNV Uncertain significance 890159 GRCh37: 19:10463192-10463192
GRCh38: 19:10352516-10352516
34 TYK2 NM_003331.5(TYK2):c.2038G>A (p.Gly680Ser) SNV Uncertain significance 890204 GRCh37: 19:10472196-10472196
GRCh38: 19:10361520-10361520
35 TYK2 NM_003331.5(TYK2):c.2023G>A (p.Gly675Ser) SNV Uncertain significance 890205 GRCh37: 19:10472211-10472211
GRCh38: 19:10361535-10361535
36 TYK2 NM_003331.5(TYK2):c.1968C>T (p.Tyr656=) SNV Uncertain significance 890206 GRCh37: 19:10472266-10472266
GRCh38: 19:10361590-10361590
37 TYK2 NM_003331.5(TYK2):c.1011+12G>A SNV Uncertain significance 389612 rs377517686 GRCh37: 19:10476181-10476181
GRCh38: 19:10365505-10365505
38 TYK2 NM_003331.5(TYK2):c.975G>T (p.Gln325His) SNV Uncertain significance 890256 GRCh37: 19:10476229-10476229
GRCh38: 19:10365553-10365553
39 TYK2 NM_003331.5(TYK2):c.829G>A (p.Val277Met) SNV Uncertain significance 890257 GRCh37: 19:10476375-10476375
GRCh38: 19:10365699-10365699
40 TYK2 NM_003331.5(TYK2):c.-9G>A SNV Uncertain significance 890303 GRCh37: 19:10489091-10489091
GRCh38: 19:10378415-10378415
41 TYK2 NM_003331.5(TYK2):c.-37C>T SNV Uncertain significance 890304 GRCh37: 19:10490307-10490307
GRCh38: 19:10379631-10379631
42 TYK2 NM_003331.5(TYK2):c.-79C>G SNV Uncertain significance 890305 GRCh37: 19:10490349-10490349
GRCh38: 19:10379673-10379673
43 TYK2 NM_003331.5(TYK2):c.-145C>T SNV Uncertain significance 890306 GRCh37: 19:10490415-10490415
GRCh38: 19:10379739-10379739
44 TYK2 NM_003331.5(TYK2):c.3201-15C>T SNV Uncertain significance 890735 GRCh37: 19:10463242-10463242
GRCh38: 19:10352566-10352566
45 TYK2 NM_003331.5(TYK2):c.3200+11G>A SNV Uncertain significance 890736 GRCh37: 19:10463591-10463591
GRCh38: 19:10352915-10352915
46 TYK2 NM_003331.5(TYK2):c.-322C>T SNV Uncertain significance 890868 GRCh37: 19:10491192-10491192
GRCh38: 19:10380516-10380516
47 TYK2 NM_003331.5(TYK2):c.*291T>C SNV Uncertain significance 891931 GRCh37: 19:10461219-10461219
GRCh38: 19:10350543-10350543
48 TYK2 NM_003331.5(TYK2):c.*261C>A SNV Uncertain significance 891932 GRCh37: 19:10461249-10461249
GRCh38: 19:10350573-10350573
49 TYK2 NM_003331.5(TYK2):c.*260C>T SNV Uncertain significance 891933 GRCh37: 19:10461250-10461250
GRCh38: 19:10350574-10350574
50 TYK2 NM_003331.5(TYK2):c.2716-13C>A SNV Uncertain significance 891974 GRCh37: 19:10464923-10464923
GRCh38: 19:10354247-10354247

Expression for Immunodeficiency 35

Search GEO for disease gene expression data for Immunodeficiency 35.

Pathways for Immunodeficiency 35

Pathways related to Immunodeficiency 35 according to GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
2
Show member pathways
13.8 STAT3 STAT2 STAT1 JAK3 JAK1 IL12RB1
3
Show member pathways
13.66 TYK2 STAT3 JAK3 IL12RB1 IL10 IFNAR1
4
Show member pathways
13.54 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
5
Show member pathways
13.43 STAT3 STAT2 STAT1 JAK3 JAK1 IL12RB1
6
Show member pathways
13.33 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
7
Show member pathways
13.22 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
8
Show member pathways
13.04 TYK2 STAT2 STAT1 JAK3 JAK1 IFNAR1
9
Show member pathways
12.98 TYK2 STAT3 STAT2 STAT1 JAK1 IFNAR1
10
Show member pathways
12.88 STAT3 STAT2 STAT1 JAK3 CCR6
11 12.85 TYK2 STAT2 STAT1 JAK1 IFNAR1 IFNA1
12 12.84 STAT3 STAT2 STAT1 JAK3 JAK1 IL12RB1
13
Show member pathways
12.82 STAT3 STAT2 STAT1 JAK3 JAK1
14
Show member pathways
12.81 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
15
Show member pathways
12.79 TYK2 STAT3 STAT1 JAK3 JAK1
16
Show member pathways
12.72 TYK2 STAT2 STAT1 JAK1 IL10 IFNAR1
17
Show member pathways
12.64 TYK2 STAT3 STAT1 JAK1 IL12RB1 IL10
18
Show member pathways
12.64 TYK2 STAT3 STAT1 JAK3 JAK1 IL12RB1
19
Show member pathways
12.62 STAT3 STAT2 STAT1 JAK3 JAK1
20
Show member pathways
12.6 IL12RB1 IL10 IFNAR1 ICOSLG
21
Show member pathways
12.59 TYK2 STAT2 STAT1 JAK1 IFNAR1 IFNA1
22
Show member pathways
12.57 STAT3 STAT1 JAK1 IL10
23 12.52 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
24
Show member pathways
12.49 STAT3 STAT2 STAT1 JAK1
25
Show member pathways
12.46 TYK2 STAT3 STAT1 JAK3 JAK1
26
Show member pathways
12.38 TYK2 STAT3 STAT1 JAK3 JAK1
27
Show member pathways
12.34 TYK2 STAT3 STAT1 JAK1 IL10
28 12.3 TYK2 STAT2 STAT1 JAK1 IFNAR1 IFNA1
29
Show member pathways
12.29 TYK2 STAT2 STAT1 JAK1 IL10 IFNAR1
30 12.26 STAT1 JAK1 IL10 IFNA1
31
Show member pathways
12.25 TYK2 STAT3 STAT2 STAT1 JAK1
32
Show member pathways
12.12 STAT3 STAT1 JAK3 JAK1
33
Show member pathways
12.04 TYK2 STAT3 STAT1 IL12RB1
34 12.03 STAT3 STAT2 STAT1
35 12.01 TYK2 STAT3 STAT1 JAK3 JAK1 IL10
36
Show member pathways
11.99 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
37
Show member pathways
11.95 STAT3 JAK3 JAK1 IL12RB1
38
Show member pathways
11.91 TYK2 STAT3 STAT1 JAK1
39
Show member pathways
11.89 STAT3 STAT1 JAK1
40
Show member pathways
11.89 TYK2 STAT3 STAT1 JAK3 JAK1 IL12RB1
41 11.87 TYK2 STAT2 STAT1 JAK1 IFNAR1 IFNA1
42 11.81 IL12RB1 IL10 CCR6
43 11.78 STAT3 STAT2 STAT1
44 11.73 STAT3 STAT1 JAK1
45
Show member pathways
11.72 TYK2 STAT3 STAT1 JAK1
46
Show member pathways
11.72 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
47 11.71 IL10 ICOSLG CCR6
48 11.7 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1
49 11.69 JAK3 JAK1 IL10
50
Show member pathways
11.69 STAT3 STAT1 JAK3 JAK1

GO Terms for Immunodeficiency 35

Biological processes related to Immunodeficiency 35 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.15 STAT3 STAT2 STAT1 IL12RB1 IL10 IFNA1
2 defense response GO:0006952 9.85 STAT3 STAT2 STAT1 IFNA1 ICOSLG
3 peptidyl-tyrosine phosphorylation GO:0018108 9.77 TYK2 JAK3 JAK1
4 B cell differentiation GO:0030183 9.73 JAK3 IL10 IFNA1
5 response to peptide hormone GO:0043434 9.71 STAT3 STAT2 STAT1
6 interleukin-12-mediated signaling pathway GO:0035722 9.71 TYK2 JAK1 IL12RB1 IL10
7 interleukin-7-mediated signaling pathway GO:0038111 9.7 STAT3 JAK3 JAK1
8 interleukin-6-mediated signaling pathway GO:0070102 9.69 STAT3 STAT1 JAK1
9 interleukin-15-mediated signaling pathway GO:0035723 9.67 STAT3 JAK3 JAK1
10 JAK-STAT cascade GO:0007259 9.67 STAT3 STAT2 STAT1 IFNAR1
11 interleukin-35-mediated signaling pathway GO:0070757 9.65 STAT3 STAT1 JAK1
12 interleukin-27-mediated signaling pathway GO:0070106 9.62 TYK2 STAT3 STAT1 JAK1
13 interleukin-23-mediated signaling pathway GO:0038155 9.61 TYK2 STAT3 IL12RB1
14 negative regulation of interleukin-12 production GO:0032695 9.59 JAK3 IL10
15 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.58 STAT3 JAK3
16 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.58 STAT1 JAK1
17 interleukin-2-mediated signaling pathway GO:0038110 9.57 JAK3 JAK1
18 interleukin-9-mediated signaling pathway GO:0038113 9.56 STAT3 STAT1 JAK3 JAK1
19 interleukin-21-mediated signaling pathway GO:0038114 9.46 STAT3 STAT1 JAK3 JAK1
20 type I interferon signaling pathway GO:0060337 9.43 TYK2 STAT2 STAT1 JAK1 IFNAR1 IFNA1
21 cytokine-mediated signaling pathway GO:0019221 9.32 TYK2 STAT3 STAT2 STAT1 JAK3 JAK1

Molecular functions related to Immunodeficiency 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.5 TYK2 JAK3 JAK1
2 protein phosphatase binding GO:0019903 9.43 STAT3 JAK3 JAK1
3 growth hormone receptor binding GO:0005131 9.16 TYK2 JAK1
4 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.13 TYK2 JAK3 JAK1
5 CCR5 chemokine receptor binding GO:0031730 8.8 STAT3 STAT1 JAK1

Sources for Immunodeficiency 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....