Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.810 GeneticVariation disease BEFREE Defects in muscle, skeletal, receptor tyrosine kinase (MuSK) cause two distinct phenotypes: fetal akinesia with multiple congenital anomalies (Fetal akinesia deformation sequence [MIM:208150]) and early onset congenital myasthenia (myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency [MIM:616325]). 30719842 2019
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.810 GeneticVariation disease UNIPROT Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK. 24183479 2014
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.810 GeneticVariation disease CLINVAR
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.810 GeneticVariation disease UNIPROT A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia. 23326516 2013
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.810 GeneticVariation disease UNIPROT MUSK, a new target for mutations causing congenital myasthenic syndrome. 15496425 2004
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.810 GeneticVariation disease UNIPROT Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes. 19949040 2009
CUI: C4225368
Disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.810 GeneticVariation disease UNIPROT Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction. 20371544 2010
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation disease BEFREE Defects in muscle, skeletal, receptor tyrosine kinase (MuSK) cause two distinct phenotypes: fetal akinesia with multiple congenital anomalies (Fetal akinesia deformation sequence [MIM:208150]) and early onset congenital myasthenia (myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency [MIM:616325]). 30719842 2019
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation disease UNIPROT Here we identify MUSK as a novel cause of lethal FADS. 25537362 2015
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation disease CLINVAR
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation disease UNIPROT MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). 25612909 2015
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation disease BEFREE Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement (fetal akinesia deformation sequence [FADS]), because of the work of Moessinger (1983). 19645055 2009
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.370 GeneticVariation disease BEFREE Mutations in MUSK result in congenital myasthenic syndrome (CMS). 25562515 2015
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.370 GeneticVariation disease BEFREE Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review. 27588369 2016
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.370 GeneticVariation disease BEFREE MUSK mutations have previously shown to cause congenital myasthenic syndrome, a neuromuscular disorder with defects in the neuromuscular junction. 29663639 2018
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.370 GeneticVariation disease BEFREE In the muscle-specific tyrosine kinase receptor gene MUSK, a heteroallelic missense and a null mutation were identified in a patient suffering from a congenital myasthenic syndrome (CMS). 18718936 2008
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.370 GeneticVariation disease BEFREE Defects in muscle, skeletal, receptor tyrosine kinase (MuSK) cause two distinct phenotypes: fetal akinesia with multiple congenital anomalies (Fetal akinesia deformation sequence [MIM:208150]) and early onset congenital myasthenia (myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency [MIM:616325]). 30719842 2019
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		0.370 GeneticVariation disease BEFREE We expand the phenotype of congenital myasthenic syndromes with MUSK mutations, describing a more severe clinical course with prenatal onset. 25900532 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0038450
Disease: Stridor
Stridor 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		0.100 GeneticVariation disease CLINVAR
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 GeneticVariation disease CLINVAR