Myh-9 Related Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Myh-9 Related Disease

MalaCards integrated aliases for Myh-9 Related Disease:

Name: Myh-9 Related Disease ¹¹ ¹⁴

Myh9-Related Disease ²⁴ ⁵⁸

Myh9-Related Syndromic Thrombocytopenia ⁵⁸

Myh9-Related Disorder ⁵⁸

Myh9-Related Syndrome ⁵⁸

Sebastian Syndrome ⁷¹

Myh9-Rd ⁵⁸

Characteristics:

Inheritance:

Myh9-Related Disease: Autosomal dominant ⁵⁸

Prevelance:

Myh9-Related Disease: 1-9/1000000 (Italy, Europe) ⁵⁸

Age Of Onset:

Myh9-Related Disease: Adolescent,Adult,Childhood,Infancy,Neonatal ⁵⁸

GeneReviews:

²⁴

Penetrance Penetrance is complete for the following congenital findings:...

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Nephrological diseases Ear diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

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

Coagulation defects, purpura and other haemorrhagic conditions

Purpura and other haemorrhagic conditions

Other primary thrombocytopenia

Orphanet: ⁵⁸

Rare renal diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

Rare haematological diseases

External Ids:

Disease Ontology ¹¹ DOID:0060651

ICD10 ³¹ D69.4

ICD10 via Orphanet ³² D69.4

UMLS via Orphanet ⁷² C1854520

Orphanet ⁵⁸ ORPHA182050

SNOMED-CT via HPO ⁶⁹ 166603001 166643006 22298006 more

UMLS ⁷¹ C1854520

Sources

Summaries for Myh-9 Related Disease

Orphanet: ⁵⁸ MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.

MalaCards based summary: Myh-9 Related Disease, also known as myh9-related disease, is related to macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss and qualitative platelet defect. An important gene associated with Myh-9 Related Disease is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are ERK Signaling and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include liver, neutrophil and bone marrow, and related phenotypes are congenital thrombocytopenia and sensorineural hearing impairment

Disease Ontology: ¹¹ A blood platelet disease that has material basis in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.

GeneReviews: NBK2689

Sources

Related Diseases for Myh-9 Related Disease

Diseases related to Myh-9 Related Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)

#	Related Disease	Score	Top Affiliating Genes
1	macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	32.5	TUBB1 MYH9
2	qualitative platelet defect	30.2	GP1BA ANKRD26
3	deafness, autosomal dominant 17	30.2	MYH9 MYH7B MYH14 MYH10
4	thrombocytopenia due to platelet alloimmunization	29.9	MPL GP9 GP1BA ANKRD26
5	autosomal dominant macrothrombocytopenia	29.4	TUBB1 GP1BB GP1BA GFI1B ACTN1
6	blood platelet disease	28.6	NBEAL2 MYH9 MPL GP9 GP1BB GP1BA
7	thrombocytopenia	28.3	TUBB1 SLFN14 NBEAL2 MYH9 MPL GP9
8	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.6
9	sensorineural hearing loss	10.6
10	cataract	10.5
11	end stage renal disease	10.4
12	ankrd26-related thrombocytopenia	10.2	MYH9 ANKRD26
13	glomerulonephritis	10.2
14	rare genetic deafness	10.2
15	fetal and neonatal alloimmune thrombocytopenia	10.1	GP1BB GP1BA
16	thrombocytopenic purpura, autoimmune	10.1
17	ataxia with vitamin e deficiency	10.1
18	focal segmental glomerulosclerosis	10.1
19	purpura	10.1
20	primary thrombocytopenia	10.0	MPL GP1BA
21	myelofibrosis	10.0
22	aortic aneurysm, familial thoracic 1	10.0
23	aortic aneurysm	10.0
24	bleeding disorder, platelet-type, 17	10.0	NBEAL2 GFI1B
25	acute kidney failure	10.0
26	retinal disease	10.0
27	leukemia, chronic lymphocytic 2	10.0
28	leiomyoma, uterine	10.0
29	leukemia, chronic lymphocytic	10.0
30	thrombophilia due to thrombin defect	10.0
31	down syndrome	10.0
32	wiskott-aldrich syndrome	10.0
33	thrombocytopenia 6	10.0
34	thrombosis	10.0
35	alport syndrome	10.0
36	nephrotic syndrome	10.0
37	neutropenia	10.0
38	mood disorder	10.0
39	kidney disease	10.0
40	sudden sensorineural hearing loss	10.0
41	thrombasthenia	9.9	GP9 GP1BA
42	bernard-soulier syndrome, type a2, autosomal dominant	9.9	TUBB1 GP1BA GFI1B
43	bleeding disorder, platelet-type, 8	9.9	NBEAL2 GP1BB
44	nonaka myopathy	9.9	MYH2 ACTN1
45	autosomal dominant nonsyndromic deafness	9.9	MYH9 MYH7B MYH14
46	sialuria	9.9	SLFN14 ACTN1
47	myeloproliferative syndrome, transient	9.9	MPL GP1BA
48	radioulnar synostosis	9.8	NBEAL2 MPL GFI1B ANKRD26
49	bleeding disorder, platelet-type, 18	9.8	SLFN14 NBEAL2
50	thrombocytopenia-absent radius syndrome	9.8	NBEAL2 MPL GP1BB ANKRD26

Graphical network of the top 20 diseases related to Myh-9 Related Disease:

Sources

Symptoms & Phenotypes for Myh-9 Related Disease

Human phenotypes related to Myh-9 Related Disease:

⁵⁸ ³⁰ (show all 16)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	congenital thrombocytopenia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001905
2	sensorineural hearing impairment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000407
3	proteinuria ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000093
4	nephropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000112
5	renal insufficiency ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000083
6	elevated hepatic transaminase ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002910
7	bruising susceptibility ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000978
8	prolonged bleeding time ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003010
9	menorrhagia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000132
10	nephritis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000123
11	spontaneous, recurrent epistaxis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004406
12	giant platelets ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001902
13	presenile cataracts ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0007819
14	neutrophil inclusion bodies ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008264
15	myocardial infarction ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0001658
16	increased mean platelet volume ⁵⁸		Frequent (79-30%)

MGI Mouse Phenotypes related to Myh-9 Related Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.77	ANKRD26 GFI1B GP1BA GP1BB MPL MYH10
2	hematopoietic system	MP:0005397	9.32	GFI1B GP1BA GP1BB GP9 MPL MYH7B

Sources

Drugs & Therapeutics for Myh-9 Related Disease

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease	Completed	NCT01133860	Phase 2	eltrombopag

Search NIH Clinical Center for Myh-9 Related Disease

Sources

Genetic Tests for Myh-9 Related Disease

Sources

Anatomical Context for Myh-9 Related Disease

Organs/tissues related to Myh-9 Related Disease:

MalaCards : Liver, Neutrophil, Bone Marrow, Kidney, Tongue, Endothelial, Bone

Sources

Publications for Myh-9 Related Disease

Articles related to Myh-9 Related Disease:

(show top 50) (show all 145)

#	Title	Authors	PMID	Year
1	Megakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease. ⁶² ²⁴	Pal K...Fowler VM	32315395	2020
2	MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy. ⁶² ²⁴	Fernandez-Prado R...Perez-Gomez MV	31384439	2019
3	MYH9: Structure, functions and role of non-muscle myosin IIA in human disease. ⁶² ²⁴	Pecci A...Adelstein RS	29679756	2018
4	Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders. ⁶² ²⁴	Greinacher A...Bakchoul T	28457011	2017
5	Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. ⁶² ²⁴	Verver EJ...Pecci A	26226608	2016
6	R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. ⁶² ²⁴	Verver E...Savoia A	24890873	2015
7	Cochlear implantation is safe and effective in patients with MYH9-related disease. ⁶² ²⁴	Pecci A...Greinacher A	24980457	2014
8	MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⁶² ²⁴	Pecci A...Savoia A	24186861	2014
9	Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule. ⁶² ²⁴	Gresele P...Savoia A	23925420	2013
10	A new feature of the MYH9-related syndrome: chronic transaminase elevation. ⁶² ²⁴	Favier R...Martignetti JA	22806255	2013
11	Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. ⁶² ²⁴	Pecci A...Italian Registry for MYH9-releated diseases	22558294	2012
12	Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. ⁶² ²⁴	Pecci A...Balduini CL	20844233	2010
13	Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. ⁶² ²⁴	Savoia A...Pecci A	20174760	2010
14	MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. ⁶² ²⁴	Seri M...Savoia A	12792306	2003
15	FLNA variants associated with disorders of platelet number or function. ²⁴	Vassallo P...Mumford AD	32299270	2020
16	Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial. ²⁴	Zaninetti C...Pecci A	31273088	2020
17	Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC. ²⁴	Gresele P...BAT-VAL study investigators	31750621	2020
18	Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations. ²⁴	Fewings E...Tischkowitz M	31125547	2019
19	Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia. ²⁴	Zaninetti C...Pecci A	31034630	2019
20	Mutation in GNE is associated with severe congenital thrombocytopenia. ²⁴	Futterer J...UK GAPP Study Group	29941673	2018
21	Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. ²⁴	Orsini S...Gresele P	28385783	2017
22	Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. ²⁴	Sivapalaratnam S...Turro E	28064200	2017
23	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ²⁴	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
24	Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. ²⁴	Noris P...Veneri D	24763399	2014
25	Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. ²⁴	Noris P...Balduini CL	24990887	2014
26	Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. ²⁴	Saposnik B...French MYH9 networka	25077172	2014
27	Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents. ²⁴	Kunishima S...Saito H	24611568	2014
28	Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. ²⁴	Kitamura K...Kunishima S	24106837	2013
29	Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. ²⁴	Sekine T...Kunishima S	20200500	2010
30	Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents. ²⁴	Kunishima S...Saito H	19208103	2009
31	MYH9-related platelet disorders. ²⁴	Althaus K...Greinacher A	19408192	2009
32	Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). ²⁴	Pecci A...Balduini CL	18503011	2008
33	Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders. ²⁴	Kunishima S...Saito H	18284620	2008
34	First description of somatic mosaicism in MYH9 disorders. ²⁴	Kunishima S...Saito H	15667538	2005
35	Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. ²⁴	Kunishima S...Saito H	12533692	2003
36	Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. ²⁴	Lalwani AK...Mhatre AN	11023810	2000
37	In vitro and in vivo effects of desmopressin on platelet function. ²⁴	Balduini CL...Gamba G	10509036	1999
38	Avatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure. ⁶²	Arif AR...Wang Y	35791514	2022
39	Post-Kidney Transplant Brief Psychosis in a Patient With MYH9-Related Disease: A Case Report. ⁶²	Moein M...Saidi R	36369142	2022
40	A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome. ⁶²	Marx D...Carapito R	35404999	2022
41	Defective VWF secretion due to expression of MYH9-RD E1841K mutant in endothelial cells disrupts hemostasis. ⁶²	Cao Y...Luo J	35764499	2022
42	Reduced platelet forces underlie impaired hemostasis in mouse models of MYH9-related disease. ⁶²	Baumann J...Bender M	35584211	2022
43	Characterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review. ⁶²	Peddu D...Ying YM	35147601	2022
44	"MYH9 mutation and squamous cell cancer of the tongue in a young adult: a novel case report". ⁶²	Yabe TE...Ashford B	35125114	2022
45	Lower Leg Hyperpigmentation in MYH9-Related Disorder. ⁶²	Elsensohn AN...Smith J	35180070	2022
46	MYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura. ⁶²	Yilmaz Keskin E...Berdeli A	34310475	2021
47	Immunoglobulin A nephropathy in a patient with an MYH9 -related disorder. ⁶²	Shimizu S...Morioka I	34383333	2021
48	[Gene analysis and clinical features of MYH9-related disease]. ⁶²	Luo XJ...Chen YS	34711031	2021
49	[Clinical and genetic features of seven children with MYH9-related disease]. ⁶²	Hu Y...Wu RH	34711033	2021
50	Individualized Bleeding Risk Assessment through Thromboelastography: A Case Report of May-Hegglin Anomaly in Preterm Twin Neonates. ⁶²	Amodeo I...Ghirardello S	34682143	2021

Sources

Genes for Myh-9 Related Disease

Genes related to Myh-9 Related Disease (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MYH9	Myosin Heavy Chain 9	Protein Coding	358.93	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴
2	ANKRD26	Ankyrin Repeat Domain Containing 26	Protein Coding	7.47	DISEASES inferred ¹⁴
3	MPL	MPL Proto-Oncogene, Thrombopoietin Receptor	Protein Coding	5.98	DISEASES inferred ¹⁴
4	MYH10	Myosin Heavy Chain 10	Protein Coding	5.96	DISEASES inferred ¹⁴
5	ACTN1	Actinin Alpha 1	Protein Coding	5.91	DISEASES inferred ¹⁴
6	MYH14	Myosin Heavy Chain 14	Protein Coding	5.88	DISEASES inferred ¹⁴
7	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	5.84	DISEASES inferred ¹⁴
8	GFI1B	Growth Factor Independent 1B Transcriptional Repressor	Protein Coding	5.83	DISEASES inferred ¹⁴
9	UBR3	Ubiquitin Protein Ligase E3 Component N-Recognin 3	Protein Coding	5.77	DISEASES inferred ¹⁴
10	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	5.76	DISEASES inferred ¹⁴
11	MYH2	Myosin Heavy Chain 2	Protein Coding	5.73	DISEASES inferred ¹⁴
12	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	5.69	DISEASES inferred ¹⁴
13	NBEAL2	Neurobeachin Like 2	Protein Coding	5.57	DISEASES inferred ¹⁴
14	SLFN14	Schlafen Family Member 14	Protein Coding	5.56	DISEASES inferred ¹⁴
15	GP9	Glycoprotein IX Platelet	Protein Coding	5.56	DISEASES inferred ¹⁴
16	MYH7B	Myosin Heavy Chain 7B	Protein Coding	5.44	DISEASES inferred ¹⁴

Sources

Variations for Myh-9 Related Disease

Sources

Expression for Myh-9 Related Disease

Search GEO for disease gene expression data for Myh-9 Related Disease.

Sources

Pathways for Myh-9 Related Disease

Pathways related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

(show all 17)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.58	TUBB1 MYH9 MYH7B MYH2 MYH14 MYH10
2	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.05	TUBB1 MPL GP9 GP1BB GP1BA ACTN1
3	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.04	TUBB1 MYH9 MYH7B MYH2 MYH14 MYH10
4	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.83	MYH9 MYH7B MYH2 MYH14 MYH10
5	RNA Polymerase II Transcription Initiation And Promoter Clearance ⁶⁶ Show member pathways Assembly of RNA Polymerase-II Initiation Complex ⁶⁴ Crosstalk Between CARM1 and ESRs ⁶⁴ Eukaryotic transcription initiation ⁷⁴ HIV Transcription Initiation ⁶⁶ Protein Acetylation and Deacetylation ⁶⁴ RNA Polymerase II HIV Promoter Escape ⁶⁶ RNA Polymerase II Promoter Escape ⁶⁶ RNA Polymerase II Transcription Initiation ⁶⁶ RNA Polymerase II Transcription Pre-Initiation And Promoter Opening ⁶⁶ Transcription Ligand-Dependent Transcription of Retinoid-Target genes ²² Transcription of mRNA ⁶⁴	12.77	MYH9 MYH2 MYH14 MYH10 ACTN1
6	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.69	MYH10 MYH14 MYH2 MYH7B MYH9
7	EPH-Ephrin signaling ⁶⁶ Show member pathways Cell adhesion Ephrins signaling ²² Cytoskeleton remodeling Fibronectin-binding integrins in cell motility ²² EPHB forward signaling ⁶¹ EPHB-mediated forward signaling ⁶⁶ EPH-ephrin mediated repulsion of cells ⁶⁶ Ephrin signaling ⁶⁶ EphrinB-EPHB pathway ⁶¹	12.37	MYH9 MYH14 MYH10 ACTN1
8	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.32	MYH9 MYH2 MYH14 MYH10 ACTN1
9	Cytoskeletal Signaling ³	12.28	MYH9 MYH14 MYH10 ACTN1
10	RhoGDI Pathway ⁶⁴ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁴	12.03	MYH10 MYH14 MYH2 MYH7B MYH9
11	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	11.95	TUBB1 MYH9 MYH7B MYH2 MYH14 MYH10
12	Immune response CCR3 signaling in eosinophils ²² Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²²	11.9	MYH9 MYH2 MYH14 MYH10 ACTN1
13	22q11.2 copy number variation syndrome ⁷⁴	11.85	GP9 GP1BB GP1BA
14	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.6	MPL GP9 GP1BB GP1BA
15	EPHA-mediated growth cone collapse ⁶⁶ Show member pathways Ephrin A reverse signaling ⁶¹ EphrinA-EPHA pathway ⁶¹ EphrinA-EphR Signaling ⁶⁴	11.53	MYH9 MYH14 MYH10
16	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	11.01	GP9 GP1BB GP1BA
17	Cytoskeleton remodeling_RalA regulation pathway ²²	10.9	MYH9 MYH7B MYH2 MYH14 MYH10

Sources

GO Terms for Myh-9 Related Disease

Cellular components related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	stress fiber	GO:0001725	10.01	MYH9 MYH14 MYH10 ACTN1
2	brush border	GO:0005903	9.91	MYH9 MYH14 ACTN1
3	actomyosin	GO:0042641	9.85	MYH9 MYH14 MYH10
4	glycoprotein Ib-IX-V complex	GO:1990779	9.8	GP9 GP1BB GP1BA
5	myosin II filament	GO:0097513	9.73	MYH10 MYH14 MYH9
6	myosin II complex	GO:0016460	9.65	MYH9 MYH7B MYH2 MYH14 MYH10
7	myosin complex	GO:0016459	9.63	MYH9 MYH7B MYH2 MYH14 MYH10
8	myosin filament	GO:0032982	9.32	MYH9 MYH7B MYH2 MYH14 MYH10

Biological processes related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	release of sequestered calcium ion into cytosol	GO:0051209	9.93	GP9 GP1BB GP1BA
2	actomyosin structure organization	GO:0031032	9.91	MYH9 MYH14 MYH10
3	blood coagulation	GO:0007596	9.89	GP9 GP1BB GP1BA
4	platelet activation	GO:0030168	9.88	GP1BB GP1BA ACTN1
5	megakaryocyte development	GO:0035855	9.85	GP9 GP1BB GP1BA
6	actin filament-based movement	GO:0030048	9.8	MYH10 MYH14 MYH9
7	positive regulation of platelet activation	GO:0010572	9.73	GP9 GP1BB GP1BA
8	blood coagulation, intrinsic pathway	GO:0007597	9.63	GP9 GP1BB GP1BA
9	hemostasis	GO:0007599	9.58	GP9 GP1BB GP1BA
10	platelet formation	GO:0030220	9.5	TUBB1 NBEAL2 MYH9 ACTN1
11	platelet aggregation	GO:0070527	9.23	TUBB1 MYH9 MPL GP1BA ACTN1

Molecular functions related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	9.97	MYH9 MYH2 MYH14 MYH10
2	actin filament binding	GO:0051015	9.93	ACTN1 MYH10 MYH14 MYH2 MYH7B MYH9
3	nucleotide binding	GO:0000166	9.87	TUBB1 SLFN14 MYH9 MYH7B MYH2 MYH14
4	actin binding	GO:0003779	9.86	MYH9 MYH7B MYH2 MYH14 MYH10 ACTN1
5	cytoskeletal motor activity	GO:0003774	9.43	MYH9 MYH7B MYH2 MYH14 MYH10
6	microfilament motor activity	GO:0000146	9.32	MYH9 MYH7B MYH2 MYH14 MYH10

Sources

Sources for Myh-9 Related Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MYH015 MIFTS: 42	Myh-9 Related Disease Categories: Blood diseases, Ear diseases, Fetal diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables