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: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease 0.650 None 1.000 11 5 2002 2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C4225367
Disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		disease 0.600 None 1.000 16 13 2002 2014
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.500 None 1.000 4 3 2003 2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C1837091
Disease: MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 		disease 0.400 strong 1.000 13 1 2002 2011
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.400 None 1.000 0 2 1998 1998
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype 0.100 None 1.000 1 1 2020 2020