Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C3280526
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 1B 		disease 0.700 None 1.000 0 1 2010 2016
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C3554046
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4
LETHAL CONGENITAL CONTRACTURE SYNDROME 4 		disease 0.600 None 1.000 0 1 2010 2016
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		disease 0.430 strong 1.000 0 1 2012 2015
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.140 None 1.000 0 1 2013 2019
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.120 None 1.000 0 2 2019 2019
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C4025281
Disease: Neonatal inspiratory stridor
Neonatal inspiratory stridor 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		disease 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		disease 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		phenotype 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 0 1