Myd88 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MYD88D MCID: MYD002 MIFTS: 50	Myd88 Deficiency (MYD88D) Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Myd88 Deficiency

MalaCards integrated aliases for Myd88 Deficiency:

Name: Myd88 Deficiency ⁵⁶ ⁵² ²⁵ ⁷³ ²⁹ ⁶ ³⁹ ⁷¹

Pyogenic Bacterial Infections, Recurrent, Due to Myd88 Deficiency ³⁶ ¹³

Bacterial Susceptibility Due to Tlr Signaling Pathway Deficiency ⁵² ⁵⁸

Pyogenic Bacterial Infections Due to Myd88 Deficiency ⁵² ²⁵

Myd88d ⁵⁶ ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

bacterial susceptibility due to tlr signaling pathway deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Neuronal diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Other immunodeficiencies

Other specified immunodeficiencies

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

OMIM ⁵⁶ 612260

KEGG ³⁶ H00721

ICD10 via Orphanet ³³ D84.8

UMLS via Orphanet ⁷² C2677092

Orphanet ⁵⁸ ORPHA183713

MedGen ⁴¹ C2677092

SNOMED-CT via HPO ⁶⁸ 234532001 386661006 50177009

UMLS ⁷¹ C2677092

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Summaries for Myd88 Deficiency

Genetics Home Reference : ²⁵ MyD88 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This primary immunodeficiency affects the innate immune response, which is the body's early, nonspecific response to foreign invaders (pathogens). MyD88 deficiency leads to abnormally frequent and severe infections by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic bacteria causes the production of pus.) However, affected individuals have normal resistance to other common bacteria, viruses, fungi, and parasites. The most common infections in MyD88 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent by about age 10. Streptococcus pneumoniae Staphylococcus aureus Pseudomonas aeruginosa Children with MyD88 deficiency develop invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the ears, nose, or throat. Although fever is a common reaction to bacterial infections, many people with MyD88 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.

MalaCards based summary : Myd88 Deficiency, also known as pyogenic bacterial infections, recurrent, due to myd88 deficiency, is related to lyme disease and plague. An important gene associated with Myd88 Deficiency is MYD88 (MYD88 Innate Immune Signal Transduction Adaptor), and among its related pathways/superpathways are Apoptosis and Toll-like receptor signaling pathway. Affiliated tissues include myeloid, brain and spinal cord, and related phenotypes are immunodeficiency and recurrent bacterial skin infections

NIH Rare Diseases : ⁵² MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections . People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae , Staphylococcus aureus , and Pseudomonas aeruginosa ). However, their immune response to other common bacteria, viruses , fungi, and parasites is normal. MYD88 deficiency is caused by changes (mutations ) in the MYD88 gene and is inherited in an autosomal recessive manner. Management is focused on the prevention and early treatment of infections with appropriate antibiotics .

KEGG : ³⁶ Autosomal recessive MyD88 deficiency predisposes affected patients to recurrent pyogenic bacterial infections, including invasive pneumococcal disease. The patients are resistant to other microbes.

UniProtKB/Swiss-Prot : ⁷³ MYD88 deficiency: Patients suffer from autosomal recessive, life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease, and die between 1 and 11 months of age. Surviving patients are otherwise healthy, with normal resistance to other microbes, and their clinical status improved with age.

Wikipedia : ⁷⁴ Myeloid differentiation primary response 88 (MYD88) is a protein that, in humans, is encoded by the... more...

More information from OMIM: 612260

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Related Diseases for Myd88 Deficiency

Diseases related to Myd88 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 127)

#	Related Disease	Score	Top Affiliating Genes
1	lyme disease	29.2	TLR6 TLR2 TLR1
2	plague	27.4	TLR6 TLR5 TLR4 TLR2 TLR1 MYD88
3	bacterial infectious disease	27.4	TLR5 TLR4 TLR2 TLR1 MYD88 IRAK4
4	invasive pneumococcal disease, recurrent isolated	10.2	TIRAP IRAK4
5	waldenstroem's macroglobulinemia	10.2	MYD88 BTK
6	cataract 30	10.2	MYD88 LY96
7	mycobacterium chelonae	10.2	TLR2 CD14
8	mycobacterium kansasii	10.1	TLR2 CD14
9	human monocytic ehrlichiosis	10.1	TLR2 MYD88
10	mycobacterium abscessus	10.0	TLR2 TLR1
11	prosthetic joint infection	9.9	TLR4 TLR2
12	toxic pneumonitis	9.9	TLR6 TLR4
13	fungal keratitis	9.9	TLR4 TLR2
14	neisseria meningitidis infection	9.9	TLR4 TLR2
15	spondylarthropathy	9.9	TLR4 TLR2
16	hereditary angioedema with normal c1inh	9.9	TLR4 TLR2
17	pneumonic plague	9.8	TLR4 TLR2
18	aortic aneurysm, familial abdominal, 1	9.8
19	alzheimer disease	9.8
20	ovarian cancer	9.8
21	dermatitis, atopic	9.8
22	chlamydia	9.8
23	lymphadenitis	9.8
24	aortic aneurysm	9.8
25	syphilis	9.8
26	eye disease	9.8
27	lung disease	9.8
28	amyloidosis	9.8
29	cytokine deficiency	9.8
30	ovarian epithelial cancer	9.8
31	dental pulp disease	9.8	TLR4 TLR2
32	bubonic plague	9.8	TLR4 TLR2
33	ocular toxoplasmosis	9.8	TLR5 TLR1
34	meningococcal meningitis	9.8	TLR4 TLR2
35	gastrointestinal tularemia	9.8	TLR4 TLR2 MYD88
36	tularemia	9.8	TLR4 TLR2 MYD88
37	pneumonic tularemia	9.8	TLR4 TLR2 MYD88
38	silo filler's disease	9.8	TLR4 TLR2 MYD88
39	listeriosis	9.7	TLR4 TLR2 MYD88
40	splenic disease	9.7	TLR4 TLR2 MYD88
41	paracoccidioidomycosis	9.7	TLR4 TLR2 MYD88
42	urethritis	9.7	TLR4 TLR2
43	neurosyphilis	9.7	TLR6 TLR2 TLR1
44	alveolar echinococcosis	9.7	TLR4 TLR2 CD36
45	platelet glycoprotein iv deficiency	9.7	TLR4 TLR2 CD36
46	hyper ige syndrome	9.7	TLR4 TLR2 IRAK4
47	leukemia, acute monocytic	9.7	TLR4 TLR2 CD14
48	cervicitis	9.7	TLR4 TLR2
49	peritonitis	9.7	TLR4 TLR2 CD14
50	glanders	9.6	TLR5 TLR4

Graphical network of the top 20 diseases related to Myd88 Deficiency:

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Symptoms & Phenotypes for Myd88 Deficiency

Human phenotypes related to Myd88 Deficiency:

⁵⁸ ³¹

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	immunodeficiency ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002721
2	recurrent bacterial skin infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005406
3	fever ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001945

Clinical features from OMIM:

612260

MGI Mouse Phenotypes related to Myd88 Deficiency:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system	MP:0005397	9.93	BTK CD14 CD36 IRAK4 LY96 MYD88
2	cellular	MP:0005384	9.92	BTK CD36 IRAK4 LY96 MYD88 TLR2
3	adipose tissue	MP:0005375	9.85	CD14 CD36 MYD88 TLR2 TLR4 TLR5
4	digestive/alimentary	MP:0005381	9.73	BTK CD36 MYD88 TLR2 TLR4 TLR5
5	homeostasis/metabolism	MP:0005376	9.61	BTK CD14 CD36 IRAK4 MYD88 TIRAP
6	immune system	MP:0005387	9.4	BTK CD14 CD36 IRAK4 LY96 MYD88

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Drugs & Therapeutics for Myd88 Deficiency

Search Clinical Trials , NIH Clinical Center for Myd88 Deficiency

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Genetic Tests for Myd88 Deficiency

Genetic tests related to Myd88 Deficiency:

#	Genetic test	Affiliating Genes
1	Myd88 Deficiency ²⁹	MYD88

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Anatomical Context for Myd88 Deficiency

MalaCards organs/tissues related to Myd88 Deficiency:

⁴⁰

Myeloid, Brain, Spinal Cord, Skin, Bone, T Cells, Liver

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Publications for Myd88 Deficiency

Articles related to Myd88 Deficiency:

(show top 50) (show all 119)

#	Title	Authors	PMID	Year
1	Pyogenic bacterial infections in humans with MyD88 deficiency. ⁵⁶ ⁶¹ ⁶	von Bernuth H...Casanova JL	18669862	2008
2	MyD88-dependent signaling in non-parenchymal cells promotes liver carcinogenesis. ⁶¹	Mohs A...Trautwein C	30770929	2020
3	A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation. ⁶¹	Platt CD...Geha RS	31301515	2019
4	Increased LIGHT expression and activation of non-canonical NF-κB are observed in gastric lesions of MyD88-deficient mice upon Helicobacter felis infection. ⁶¹	Mejias-Luque R...Obonyo M	31065023	2019
5	ST2/MyD88 Deficiency Protects Mice against Acute Graft-versus-Host Disease and Spares Regulatory T Cells. ⁶¹	Griesenauer B...Paczesny S	30979817	2019
6	Epithelium-specific MyD88 signaling, but not DCs or macrophages, control acute intestinal infection with Clostridium difficile. ⁶¹	Mamareli P...Lochner M	30802297	2019
7	Innate immune adaptor MyD88 deficiency prevents skin inflammation in SHARPIN-deficient mice. ⁶¹	Sharma BR...Kanneganti TD	30038386	2019
8	Oxidized LDL upregulates macrophage DPP4 expression via TLR4/TRIF/CD36 pathways. ⁶¹	Rao X...Zhong J	30738832	2019
9	MyD88 controls airway epithelial Muc5ac expression during TLR activation conditions from agricultural organic dust exposure. ⁶¹	Dickinson JD...Poole JA	30358438	2019
10	Innate Sensing through Mesenchymal TLR4/MyD88 Signals Promotes Spontaneous Intestinal Tumorigenesis. ⁶¹	Koliaraki V...Kollias G	30650348	2019
11	Host MyD88 signaling protects against acute graft-versus-host disease after allogeneic bone marrow transplantation. ⁶¹	Xing S...Zhou P	30317551	2019
12	First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia. ⁶¹	Chiriaco M...Finocchi A	30837984	2019
13	TLR-2 and MyD88-Dependent Activation of MAPK and STAT Proteins Regulates Proinflammatory Cytokine Response and Immunity to Experimental Trypanosoma congolense Infection. ⁶¹	Kuriakose S...Uzonna JE	31824484	2019
14	Innate immune adaptor TRIF deficiency accelerates disease progression of ALS mice with accumulation of aberrantly activated astrocytes. ⁶¹	Komine O...Yamanaka K	29568058	2018
15	MyD88 signaling causes autoimmune sialadenitis through formation of high endothelial venules and upregulation of LTβ receptor-mediated signaling. ⁶¹	Into T...Shibata KI	30250175	2018
16	MyD88 activation in cardiomyocytes contributes to the heart immune response to acute Trypanosoma cruzi infection with no effect on local parasite control. ⁶¹	Santana DY...Alvarez JM	30067739	2018
17	MyD88 Deficiency Protects Against Dry Eye-Induced Damage. ⁶¹	Reins RY...Redfern RL	30025110	2018
18	Chlamydia and Lipids Engage a Common Signaling Pathway That Promotes Atherogenesis. ⁶¹	Chen S...Arditi M	29622163	2018
19	B Cells Producing Type I IFN Modulate Macrophage Polarization in Tuberculosis. ⁶¹	Benard A...Hudrisier D	29161093	2018
20	Differential role of MyD88 and TRIF signaling in myeloid cells in the pathogenesis of autoimmune diabetes. ⁶¹	Androulidaki A...Pasparakis M	29522531	2018
21	Hematopoietic MyD88 and IL-18 are essential for IFN-γ-dependent restriction of type A Francisella tularensis infection. ⁶¹	Skyberg JA...Lacey CA	28951422	2017
22	Mer Receptor Tyrosine Kinase Signaling Prevents Self-Ligand Sensing and Aberrant Selection in Germinal Centers. ⁶¹	Schell SL...Rahman ZSM	29118245	2017
23	Role of MyD88 signaling in the imiquimod-induced mouse model of psoriasis: focus on innate myeloid cells. ⁶¹	Costa S...Scapini P	28642279	2017
24	Basal autophagy prevents autoactivation or enhancement of inflammatory signals by targeting monomeric MyD88. ⁶¹	Into T...Niida S	28432355	2017
25	General, but not myeloid or type II lung epithelial cell, myeloid differentiation factor 88 deficiency abrogates house dust mite induced allergic lung inflammation. ⁶¹	Anas AA...van der Poll T	27625307	2017
26	HMGB1 translocation and release mediate cigarette smoke-induced pulmonary inflammation in mice through a TLR4/MyD88-dependent signaling pathway. ⁶¹	Cheng Y...He S	27807045	2017
27	TLR3 downregulates expression of schizophrenia gene Disc1 via MYD88 to control neuronal morphology. ⁶¹	Chen CY...Hsueh YP	27979975	2017
28	Short-term MyD88 inhibition ameliorates cardiac graft rejection and promotes donor-specific hyporesponsiveness of skin grafts in mice. ⁶¹	He WT...Zhou P	27125343	2016
29	Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis. ⁶¹	Giardino G...Pignata C	26632527	2016
30	Requirement of MyD88 signaling in keratinocytes for Langerhans cell migration and initiation of atopic dermatitis-like symptoms in mice. ⁶¹	Didovic S...Weighardt H	26694221	2016
31	Recipient Myd88 Deficiency Promotes Spontaneous Resolution of Kidney Allograft Rejection. ⁶¹	Lerret NM...Zhang Z	25788530	2015
32	Differential Effect of MyD88 Signal in Donor T Cells on Graft-versus-Leukemia Effect and Graft-versus-Host Disease after Experimental Allogeneic Stem Cell Transplantation. ⁶¹	Lim JY...Min CK	26552489	2015
33	MyD88 Signaling Regulates Steady-State Migration of Intestinal CD103+ Dendritic Cells Independently of TNF-α and the Gut Microbiota. ⁶¹	Hagerbrand K...Johansson-Lindbom B	26259586	2015
34	Myd88 Initiates Early Innate Immune Responses and Promotes CD4 T Cells during Coronavirus Encephalomyelitis. ⁶¹	Butchi N...Bergmann CC	26136579	2015
35	Natural Killer Cell Sensing of Infected Cells Compensates for MyD88 Deficiency but Not IFN-I Activity in Resistance to Mouse Cytomegalovirus. ⁶¹	Cocita C...Dalod M	25954804	2015
36	MyD88-dependent signaling drives host survival and early cytokine production during Histoplasma capsulatum infection. ⁶¹	Coady A...Sil A	25583527	2015
37	The importance of the Pseudomonas aeruginosa type III secretion system in epithelium traversal depends upon conditions of host susceptibility. ⁶¹	Sullivan AB...Fleiszig SM	25667266	2015
38	MyD88 in macrophages is critical for abscess resolution in staphylococcal skin infection. ⁶¹	Feuerstein R...Henneke P	25681348	2015
39	Relevance of the myeloid differentiation factor 88 (MyD88) on RANKL, OPG, and nod expressions induced by TLR and IL-1R signaling in bone marrow stromal cells. ⁶¹	Leite FR...Junior CR	25125146	2015
40	A role for innate immunity in the development of hypertension. ⁶¹	Gomolak JR...Didion SP	25441337	2014
41	MyD88 acts as an adaptor protein for inflammatory signalling induced by amyloid-β in macrophages. ⁶¹	O'Halloran S...Downer EJ	25124962	2014
42	MyD88 is dispensable for cerebral amyloidosis and neuroinflammation in APP/PS1 transgenic mice. ⁶¹	Weitz TM...Town T	25174876	2014
43	B cell-intrinsic TLR7 signaling is essential for the development of spontaneous germinal centers. ⁶¹	Soni C...Rahman ZS	25252960	2014
44	Both bone marrow-derived and non-bone marrow-derived cells contribute to AIM2 and NLRP3 inflammasome activation in a MyD88-dependent manner in dietary steatohepatitis. ⁶¹	Csak T...Szabo G	24650018	2014
45	RIPK1 ensures intestinal homeostasis by protecting the epithelium against apoptosis. ⁶¹	Takahashi N...Vandenabeele P	25186904	2014
46	TLR4 activation enhances the PD-L1-mediated tolerogenic capacity of colonic CD90+ stromal cells. ⁶¹	Beswick EJ...Pinchuk IV	25070848	2014
47	Hematopoietic but not endothelial cell MyD88 contributes to host defense during gram-negative pneumonia derived sepsis. ⁶¹	van Lieshout MH...van der Poll T	25254554	2014
48	Contribution of TLR4 and MyD88 for adjuvant monophosphoryl lipid A (MPLA) activity in a DNA prime-protein boost HIV-1 vaccine. ⁶¹	Pouliot K...Lien E	25045815	2014
49	Invasive pneumococcal disease in children can reveal a primary immunodeficiency. ⁶¹	Gaschignard J...Picard C	24759830	2014
50	Mesenchymal stem cells secrete immunologically active exosomes. ⁶¹	Zhang B...Lim SK	24367916	2014

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Genes for Myd88 Deficiency

Genes related to Myd88 Deficiency (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYD88	MYD88 Innate Immune Signal Transduction Adaptor	Protein Coding	1686.78	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Pathways & Interactions Variants (show sections)	18669862
2	IRAK4	Interleukin 1 Receptor Associated Kinase 4	Protein Coding	15.15	GeneCards inferred via : Publications Pathways & Interactions (show sections)
3	BTK	Bruton Tyrosine Kinase	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
4	CD14	CD14 Molecule	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
5	CD36	CD36 Molecule	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
6	LY96	Lymphocyte Antigen 96	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
7	TIRAP	TIR Domain Containing Adaptor Protein	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
8	TLR1	Toll Like Receptor 1	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
9	TLR2	Toll Like Receptor 2	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
10	TLR4	Toll Like Receptor 4	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
11	TLR5	Toll Like Receptor 5	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)
12	TLR6	Toll Like Receptor 6	Protein Coding	6.89	GeneCards inferred via : Pathways & Interactions (show sections)

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Variations for Myd88 Deficiency

ClinVar genetic disease variations for Myd88 Deficiency:

⁶ (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MYD88	NM_002468.5(MYD88):c.-24_-6del	deletion	Pathogenic	469578	rs746651350	3:38180162-38180180	3:38138671-38138689
2	MYD88	NM_002468.5(MYD88):c.586C>T (p.Arg196Cys)	SNV	Pathogenic	7495	rs137853064	3:38182001-38182001	3:38140510-38140510
3	MYD88	NM_002468.5(MYD88):c.278T>C (p.Leu93Pro)	SNV	Pathogenic	7496	rs137853065	3:38180469-38180469	3:38138978-38138978
4	MYD88	NM_002468.5(MYD88):c.154_156GAG[1] (p.Glu53del)	short repeat	Pathogenic/Likely pathogenic	235259	rs878852993	3:38180344-38180346	3:38138853-38138855
5	MYD88	NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)	SNV	Uncertain significance	37055	rs387907272	3:38182641-38182641	3:38141150-38141150
6	MYD88	NM_002468.5(MYD88):c.-9C>G	SNV	Uncertain significance	134869	rs587778544	3:38180183-38180183	3:38138692-38138692
7	MYD88	NM_002468.5(MYD88):c.751C>T (p.Arg251Ter)	SNV	Uncertain significance	537300	rs748659894	3:38182637-38182637	3:38141146-38141146
8	MYD88	NM_002468.5(MYD88):c.860C>T (p.Thr287Ile)	SNV	Uncertain significance	537302	rs138284536	3:38182746-38182746	3:38141255-38141255
9	MYD88	NM_002468.5(MYD88):c.434C>A (p.Ala145Glu)	SNV	Uncertain significance	846019		3:38181460-38181460	3:38139969-38139969
10	MYD88	NM_002468.5(MYD88):c.479G>A (p.Arg160His)	SNV	Uncertain significance	838237		3:38181894-38181894	3:38140403-38140403
11	MYD88	NM_002468.5(MYD88):c.106T>C (p.Phe36Leu)	SNV	Uncertain significance	537299	rs372072898	3:38180297-38180297	3:38138806-38138806
12	MYD88	NM_002468.5(MYD88):c.366G>T (p.Gln122His)	SNV	Uncertain significance	537301	rs372319724	3:38181392-38181392	3:38139901-38139901
13	MYD88	NM_002468.5(MYD88):c.499T>C (p.Tyr167His)	SNV	Uncertain significance	568203	rs186265242	3:38181914-38181914	3:38140423-38140423
14	MYD88	NM_002468.5(MYD88):c.511G>A (p.Asp171Asn)	SNV	Uncertain significance	574389	rs1559484615	3:38181926-38181926	3:38140435-38140435
15	MYD88	NM_002468.5(MYD88):c.113A>G (p.Asn38Ser)	SNV	Uncertain significance	639601		3:38180304-38180304	3:38138813-38138813
16	MYD88	NM_002468.5(MYD88):c.212C>T (p.Thr71Ile)	SNV	Uncertain significance	660526		3:38180403-38180403	3:38138912-38138912
17	MYD88	NM_002468.5(MYD88):c.754C>G (p.Leu252Val)	SNV	Uncertain significance	653936		3:38182640-38182640	3:38141149-38141149
18	MYD88	NM_002468.5(MYD88):c.66G>T (p.Leu22=)	SNV	Likely benign	748869		3:38180257-38180257	3:38138766-38138766
19	MYD88	NM_002468.5(MYD88):c.604A>C (p.Thr202Pro)	SNV	Benign	469579	rs191826554	3:38182019-38182019	3:38140528-38140528
20	MYD88	NM_002468.5(MYD88):c.36C>G (p.Ala12=)	SNV	Benign	537305	rs79867863	3:38180227-38180227	3:38138736-38138736
21	MYD88	NM_002468.5(MYD88):c.261C>T (p.Gly87=)	SNV	Benign	537304	rs373382593	3:38180452-38180452	3:38138961-38138961
22	MYD88	NM_002468.5(MYD88):c.270C>G (p.Leu90=)	SNV	Benign	709850		3:38180461-38180461	3:38138970-38138970
23	MYD88	NM_002468.5(MYD88):c.644+3T>C	SNV	Benign	719591		3:38182062-38182062	3:38140571-38140571
24	MYD88	NM_002468.5(MYD88):c.80T>C (p.Met27Thr)	SNV	Benign	134871	rs201871349	3:38180271-38180271	3:38138780-38138780

UniProtKB/Swiss-Prot genetic disease variations for Myd88 Deficiency:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	MYD88	p.Leu93Pro	VAR_047953	rs137853065
2	MYD88	p.Arg196Cys	VAR_047954	rs137853064

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Expression for Myd88 Deficiency

Search GEO for disease gene expression data for Myd88 Deficiency.

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Pathways for Myd88 Deficiency

Pathways related to Myd88 Deficiency according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Apoptosis	hsa04210
2	Toll-like receptor signaling pathway	hsa04620

Pathways related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show all 49)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.95	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
2	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	13.66	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
3	Activated TLR4 signalling ⁶⁵ Show member pathways activated TAK1 mediates p38 MAPK activation ⁶⁵ Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon ⁶⁵ IRAK2 mediated activation of TAK1 complex ⁶⁵ IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation ⁶⁵ JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 ⁶⁵ MAP kinase activation in TLR cascade ⁶⁵ MyD88 cascade initiated on plasma membrane ⁶⁵ MyD88 dependent cascade initiated on endosome ⁶⁵ MyD88-independent TLR3/TLR4 cascade ⁶⁵ MyD88-Mal cascade initiated on plasma membrane ⁶⁵ Regulation of TLR by endogenous ligand ⁶⁵ TICAM1 deficiency - HSE ⁶⁵ Toll Like Receptor 10 (TLR10) Cascade ⁶⁵ Toll Like Receptor 2 (TLR2) Cascade ⁶⁵ Toll Like Receptor 3 (TLR3) Cascade ⁶⁵ Toll Like Receptor 4 (TLR4) Cascade ⁶⁵ Toll Like Receptor 5 (TLR5) Cascade ⁶⁵ Toll Like Receptor 7/8 (TLR7/8) Cascade ⁶⁵ Toll Like Receptor 9 (TLR9) Cascade ⁶⁵ Toll Like Receptor TLR1-TLR2 Cascade ⁶⁵ Toll Like Receptor TLR6-TLR2 Cascade ⁶⁵ Toll-Like Receptors Cascades ⁶⁵ TRAF3 deficiency - HSE ⁶⁵ TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation ⁶⁵ TRAF6 mediated induction of TAK1 complex ⁶⁵ TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling ⁶⁵ Trafficking and processing of endosomal TLR ⁶⁵ Transfer of LPS from LBP carrier to CD14 ⁶⁵ TRIF-mediated programmed cell death ⁶⁵ TRIF-mediated TLR3/TLR4 signaling ⁶⁵	13.56	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
4	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.43	TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
5	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	13.41	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
6	IL-2 Pathway ⁶³ Show member pathways ErbB Family Pathway ⁶³ ErbB2-ErbB3 Heterodimers ⁶³ ErbB4 Pathway ⁶³ Growth Hormone Signaling ⁶³ HMGB1 Pathway ⁶³ IL-4 Pathway ⁶³ LPS Stimulated MAPK Signaling ⁶³ PACAP Signaling ⁶³ PI3K Signaling in B-Lymphocyte ⁶³ Prolactin Signaling ⁶³ Thrombopoietin Pathway ⁶³ TREM1 Pathway ⁶³ UVC-Induced MAPK Signaling ⁶³	13.21	TLR6 TLR5 TLR4 TLR2 TLR1 MYD88
7	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Regulation of toll-like receptor signaling pathway ¹	13.03	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
8	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.79	TLR4 TLR2 MYD88 IRAK4 BTK
9	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.75	TLR6 TLR5 TLR4 TLR2 TLR1 MYD88
10	TRAF Pathway ⁶³ Show member pathways 14-3-3 Induced Apoptosis ⁶³ TNF Superfamily Pathway ⁶³ Toll-Like Receptors Pathway ⁶³	12.66	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
11	NF-kappaB Signaling ⁴	12.62	TLR6 TLR2 TLR1 MYD88 IRAK4 BTK
12	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.54	TLR4 TLR2 TIRAP MYD88
13	Development Slit-Robo signaling ²² Show member pathways Cell adhesion Gap junctions ²² Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ¹	12.4	TLR5 TLR4 LY96 CD14
14	Antigen processing-Cross presentation ⁶⁵ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁵ Endosomal/Vacuolar pathway ⁶⁵ ER-Phagosome pathway ⁶⁵ Immune response Antigen presentation by MHC class I ²²	12.4	TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
15	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	12.38	TLR4 TIRAP MYD88 LY96 IRAK4 CD14
16	Shigellosis ³⁶	12.37	TLR5 TLR4 MYD88 CD14
17	Pathogenic Escherichia coli infection ³⁶	12.34	TLR5 TLR4 TIRAP MYD88 IRAK4
18	Salmonella infection (KEGG) ³⁶	12.34	TLR6 TLR5 TLR4 TLR2 TIRAP MYD88
19	Toxoplasmosis ³⁶ Show member pathways Leishmaniasis ³⁶	12.33	TLR4 TLR2 MYD88 LY96 IRAK4
20	Toll-Like receptor Signaling Pathways ⁶⁴ Show member pathways IL-1 Family Signaling Pathways ⁶⁴ Immune response IL-1 signaling pathway ²² Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²² Inflammasome Activation Pathways ⁶⁴ Mucin expression in CF via TLRs, EGFR signaling pathways ²² NOD-like Receptor Signaling Pathways ⁶⁴	12.33	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
21	CASP8 activity is inhibited ⁶⁵ Show member pathways Caspase activation via extrinsic apoptotic signalling pathway ⁶⁵ Dimerization of procaspase-8 ⁶⁵ FAS (CD95) signaling pathway ¹ Ligand-dependent caspase activation ⁶⁵ Ligand-independent caspase activation via DCC ⁶⁵ Regulated Necrosis ⁶⁵ Regulation by c-FLIP ⁶⁵ Regulation of necroptotic cell death ⁶⁵ RIPK1-mediated regulated necrosis ⁶⁵ TRAIL signaling ⁶⁵ TRAIL signaling pathway ¹	12.29	TLR4 LY96 CD14 BTK
22	Tuberculosis ³⁶	12.29	TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
23	VEGF Pathway (Qiagen) ⁶³ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶³ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁵ VEGF Pathway ⁶³	12.27	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
24	Colorectal Cancer Metastasis ⁶³	12.26	TLR6 TLR5 TLR4 TLR2 TLR1
25	Bacterial infections in CF airways ²² Show member pathways IL-1 beta-dependent CFTR expression ²² Immune response Bacterial infections in normal airways ²² Immune response TLR signaling pathways ²²	12.24	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
26	Phagosome ³⁶	12.22	TLR6 TLR4 TLR2 CD36 CD14
27	NOD-like receptor signaling pathway ³⁶	12.14	TLR4 MYD88 IRAK4
28	MAPK Pathway ⁷⁰ Show member pathways Toll-like Receptor Pathway ⁷⁰	12.12	TLR6 TLR5 TLR4 TLR2 TLR1
29	IL27-mediated signaling events ¹ Show member pathways IL12 Signaling Pathway ⁶⁶ Th1 Differentiation ⁶⁴	12.04	TLR6 TLR5 TLR4 TLR2 TLR1
30	NF-kappa B signaling pathway ³⁶	12.04	TLR4 TIRAP MYD88 LY96 IRAK4 CD14
31	NF-kB(NFkB) Pathway ⁶⁶	12.01	TLR4 TIRAP MYD88 LY96 IRAK4 CD14
32	Th17 Differentiation ⁶⁴ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁴	11.96	TLR6 TLR5 TLR4 TLR2 TLR1
33	Yersinia infection ³⁶	11.95	TLR4 MYD88 IRAK4
34	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.94	TLR4 MYD88 LY96 CD14
35	Phagocytosis of Microbes ⁶³	11.92	TLR6 TLR5 TLR4 TLR2 TLR1
36	Pertussis ³⁶	11.89	TLR4 TIRAP MYD88 LY96 IRAK4 CD14
37	Amoebiasis ³⁶	11.88	TLR4 TLR2 CD14
38	Legionellosis ³⁶	11.71	TLR5 TLR4 TLR2 MYD88 CD14
39	AGE/RAGE pathway ¹	11.68	TIRAP MYD88 IRAK4
40	Transcription_NF-kB signaling pathway ²²	11.68	TLR4 MYD88 LY96 CD14
41	Diseases associated with the TLR signaling cascade ⁶⁵ Show member pathways Diseases of Immune System ⁶⁵ Interleukin-1 Induced Activation of NF-kappa-B ¹ IRAK1 recruits IKK complex ⁶⁵ IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation ⁶⁵ IRAK4 deficiency (TLR2/4) ⁶⁵ IRAK4 deficiency (TLR5) ⁶⁵ MyD88 deficiency (TLR2/4) ⁶⁵ MyD88 deficiency (TLR5) ⁶⁵ Simplified Depiction of MYD88 Distinct Input-Output Pathway ¹ TLR4 Signaling and Tolerance ¹ Toll-like Receptor Signaling ¹	11.68	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
42	Malaria ³⁶	11.64	TLR4 TLR2 MYD88 CD36
43	A-beta Uptake and Degradation ⁶⁴	11.43	TLR4 LY96 CD36 CD14
44	IL10 Signaling Pathway ⁶⁶	11.31	MYD88 IRAK4 CD14
45	IL1 and megakaryocytes in obesity ¹	11.25	TLR2 TLR1 MYD88
46	IKK complex recruitment mediated by RIP1 ⁶⁵	11.23	TLR4 LY96 CD14
47	IL1 Signaling Pathway ⁶⁶	11.14	MYD88 IRAK4
48	NTHi-Induced Signaling ⁶³	11.02	TLR2 MYD88
49	MIF Action Through Endocytic Pathway ⁶³	10.92	TLR4 LY96 CD14

Sources

GO Terms for Myd88 Deficiency

Cellular components related to Myd88 Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of plasma membrane	GO:0005887	9.93	TLR6 TLR5 TLR4 TLR2 TLR1 CD36
2	plasma membrane	GO:0005886	9.93	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
3	Golgi apparatus	GO:0005794	9.91	TLR6 TLR4 TLR2 TLR1 CD36 CD14
4	endosome membrane	GO:0010008	9.65	TLR4 MYD88 LY96 IRAK4 CD14
5	phagocytic vesicle membrane	GO:0030670	9.58	TLR6 TLR2 TLR1
6	intrinsic component of plasma membrane	GO:0031226	9.54	TLR4 TLR2 LY96
7	Toll-like receptor 1-Toll-like receptor 2 protein complex	GO:0035354	9.32	TLR2 TLR1
8	lipopolysaccharide receptor complex	GO:0046696	9.13	TLR4 LY96 CD14
9	membrane raft	GO:0045121	9.1	TLR6 TLR2 TLR1 CD36 CD14 BTK

Biological processes related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 76)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.3	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
2	immune response	GO:0006955	10.11	TLR6 TLR4 TLR2 TLR1 CD36
3	positive regulation of gene expression	GO:0010628	10.11	TLR6 TLR4 TLR2 MYD88 CD36
4	inflammatory response	GO:0006954	10.09	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
5	cell surface receptor signaling pathway	GO:0007166	10.08	TIRAP MYD88 LY96 CD36 CD14
6	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	10.06	TLR6 TLR4 TIRAP MYD88 IRAK4 CD36
7	immune system process	GO:0002376	10.06	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
8	cellular response to lipopolysaccharide	GO:0071222	10.05	TLR5 TLR4 MYD88 LY96 CD36 CD14
9	response to lipopolysaccharide	GO:0032496	10.03	TLR4 TLR2 TIRAP MYD88 LY96 CD14
10	defense response to bacterium	GO:0042742	10.02	TLR6 TLR5 TLR4 MYD88
11	positive regulation of NF-kappaB transcription factor activity	GO:0051092	10.02	TLR6 TLR4 TLR2 TIRAP MYD88 CD36
12	defense response to Gram-positive bacterium	GO:0050830	9.98	TLR2 TIRAP MYD88 CD36
13	apoptotic signaling pathway	GO:0097190	9.95	TLR4 LY96 CD14 BTK
14	I-kappaB kinase/NF-kappaB signaling	GO:0007249	9.94	TLR4 LY96 CD14 BTK
15	positive regulation of interleukin-6 production	GO:0032755	9.94	TLR4 TLR2 MYD88 CD36
16	positive regulation of nitric oxide biosynthetic process	GO:0045429	9.92	TLR6 TLR5 TLR4 CD36
17	lipopolysaccharide-mediated signaling pathway	GO:0031663	9.92	TLR4 TLR2 MYD88 LY96 CD14
18	response to bacterium	GO:0009617	9.91	TLR4 CD36 CD14
19	TRIF-dependent toll-like receptor signaling pathway	GO:0035666	9.91	TLR6 TLR4 LY96 CD14
20	positive regulation of JNK cascade	GO:0046330	9.9	TLR4 TIRAP MYD88
21	cellular response to mechanical stimulus	GO:0071260	9.9	TLR5 TLR4 MYD88
22	phagocytosis	GO:0006909	9.9	TLR4 MYD88 CD14
23	positive regulation of interleukin-12 production	GO:0032735	9.9	TLR4 TLR2 TIRAP CD36
24	positive regulation of NIK/NF-kappaB signaling	GO:1901224	9.89	TLR4 TLR2 CD14
25	positive regulation of interleukin-8 production	GO:0032757	9.89	TLR5 TLR4 TLR2 TIRAP MYD88
26	cellular response to amyloid-beta	GO:1904646	9.88	TLR6 TLR4 CD36
27	positive regulation of interleukin-8 secretion	GO:2000484	9.87	TLR4 TLR2 TLR1 CD14
28	positive regulation of cytokine production involved in inflammatory response	GO:1900017	9.85	TLR6 TLR4 MYD88
29	necroptotic process	GO:0070266	9.85	TLR4 LY96 CD14
30	cellular response to oxidised low-density lipoprotein particle stimulus	GO:0140052	9.85	TLR6 TLR4 MYD88 CD36
31	toll-like receptor signaling pathway	GO:0002224	9.85	TLR6 TLR5 TLR4 TLR2 TLR1 MYD88
32	MyD88-independent toll-like receptor signaling pathway	GO:0002756	9.84	TLR4 LY96 CD14
33	toll-like receptor 4 signaling pathway	GO:0034142	9.84	TLR4 LY96 CD14
34	regulation of cytokine secretion	GO:0050707	9.84	TLR6 TLR5 TLR2 TLR1
35	positive regulation of interleukin-6 biosynthetic process	GO:0045410	9.83	TLR6 TLR1 TIRAP
36	positive regulation of reactive oxygen species biosynthetic process	GO:1903428	9.83	TLR6 TLR4 CD36
37	cell activation	GO:0001775	9.83	TLR6 TLR2 TLR1
38	positive regulation of NLRP3 inflammasome complex assembly	GO:1900227	9.81	TLR6 TLR4 CD36
39	cellular response to diacyl bacterial lipopeptide	GO:0071726	9.81	TLR6 TLR2 CD36 CD14
40	interleukin-1 beta secretion	GO:0050702	9.8	TLR6 TLR4 CD36
41	negative regulation of MyD88-independent toll-like receptor signaling pathway	GO:0034128	9.8	TLR4 LY96 CD14
42	cellular response to lipoteichoic acid	GO:0071223	9.8	TLR4 TLR2 TIRAP CD36 CD14
43	positive regulation of tumor necrosis factor production	GO:0032760	9.8	TLR4 TLR2 TIRAP MYD88 LY96 CD36
44	toll-like receptor TLR1:TLR2 signaling pathway	GO:0038123	9.78	TLR2 TLR1 CD14
45	cellular response to triacyl bacterial lipopeptide	GO:0071727	9.77	TLR2 TLR1 CD14
46	cellular response to bacterial lipopeptide	GO:0071221	9.77	TLR6 TLR2 TLR1 TIRAP CD36
47	toll-like receptor TLR6:TLR2 signaling pathway	GO:0038124	9.76	TLR6 TLR2 CD36 CD14
48	microglial cell activation	GO:0001774	9.75	TLR6 TLR2
49	positive regulation of interferon-beta production	GO:0032728	9.75	TLR4 TLR2
50	positive regulation of interleukin-10 production	GO:0032733	9.75	TLR4 TLR2

Molecular functions related to Myd88 Deficiency according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	10.31	TLR6 TLR5 TLR4 TLR2 TLR1 TIRAP
2	identical protein binding	GO:0042802	10.04	TLR6 TLR4 TLR2 TLR1 TIRAP MYD88
3	signaling receptor activity	GO:0038023	9.88	TLR6 TLR5 TLR4 TLR2 TLR1
4	transmembrane signaling receptor activity	GO:0004888	9.83	TLR6 TLR5 TLR4 TLR1
5	amyloid-beta binding	GO:0001540	9.76	TLR6 TLR4 TLR2 CD36
6	lipopolysaccharide binding	GO:0001530	9.67	TLR4 TLR2 LY96 CD14
7	interleukin-1 receptor binding	GO:0005149	9.61	TLR5 MYD88 IRAK4
8	Toll-like receptor binding	GO:0035325	9.58	TLR2 MYD88 CD36
9	Toll-like receptor 4 binding	GO:0035662	9.51	TIRAP LY96
10	lipopolysaccharide receptor activity	GO:0001875	9.5	TLR4 TLR2 LY96
11	NAD+ nucleotidase, cyclic ADP-ribose generating	GO:0061809	9.46	TLR6 TLR4 TLR2 TLR1
12	Toll-like receptor 2 binding	GO:0035663	9.43	TLR6 TLR1 TIRAP
13	NAD(P)+ nucleosidase activity	GO:0050135	9.26	TLR6 TLR4 TLR2 TLR1
14	lipopeptide binding	GO:0071723	8.92	TLR6 TLR2 TLR1 CD14

Sources

Sources for Myd88 Deficiency

¹ BioSystems

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Myd88 Deficiency (MYD88D)

Aliases & Classifications for Myd88 Deficiency

MalaCards integrated aliases for Myd88 Deficiency:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Myd88 Deficiency

Related Diseases for Myd88 Deficiency

Diseases related to Myd88 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Myd88 Deficiency:

Symptoms & Phenotypes for Myd88 Deficiency

Human phenotypes related to Myd88 Deficiency:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Myd88 Deficiency:

Drugs & Therapeutics for Myd88 Deficiency

Genetic Tests for Myd88 Deficiency

Genetic tests related to Myd88 Deficiency:

Anatomical Context for Myd88 Deficiency

MalaCards organs/tissues related to Myd88 Deficiency:

Publications for Myd88 Deficiency

Articles related to Myd88 Deficiency:

Genes for Myd88 Deficiency

Genes related to Myd88 Deficiency (1 elite genes):

Variations for Myd88 Deficiency

ClinVar genetic disease variations for Myd88 Deficiency:

UniProtKB/Swiss-Prot genetic disease variations for Myd88 Deficiency:

Expression for Myd88 Deficiency

Pathways for Myd88 Deficiency

Pathways related to Myd88 Deficiency according to KEGG:

Pathways related to Myd88 Deficiency according to GeneCards Suite gene sharing:

GO Terms for Myd88 Deficiency

Cellular components related to Myd88 Deficiency according to GeneCards Suite gene sharing:

Biological processes related to Myd88 Deficiency according to GeneCards Suite gene sharing:

Molecular functions related to Myd88 Deficiency according to GeneCards Suite gene sharing:

Sources for Myd88 Deficiency