MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333864
Disease: Giant platelet (morphologic abnormality)
Giant platelet (morphologic abnormality) 		0.100 Biomarker phenotype HPO
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		0.100 GeneticVariation disease CLINVAR
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		0.100 GeneticVariation phenotype CLINVAR
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure) 		0.100 Biomarker phenotype HPO
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis 		0.100 Biomarker phenotype HPO
CUI: C4021547
Disease: Neutrophil inclusion bodies
Neutrophil inclusion bodies 		0.100 Biomarker phenotype HPO
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape 		0.100 GeneticVariation disease CLINVAR
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis 		0.100 Biomarker disease HPO
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 Biomarker phenotype GENOMICS_ENGLAND A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		1.000 Biomarker disease CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C1863659
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17
DEAFNESS, AUTOSOMAL DOMINANT 17 		0.710 Biomarker disease GENOMICS_ENGLAND A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		0.570 Biomarker disease CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		0.560 Biomarker disease CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		0.500 Biomarker group CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C1842035
Disease: Giant Platelet Syndrome with Thrombocytopenia
Giant Platelet Syndrome with Thrombocytopenia 		0.500 Biomarker disease CLINGEN A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. 9390828 1998
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		1.000 GeneticVariation phenotype BEFREE Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. 10973259 2000