Source: ORPHANET

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: 1305
Gene Symbol: COL13A1
COL13A1 		collagen type XIII alpha 1 chain 0.608 0.654 3.7E-14
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		disease 0.500 None 1.000 1 0 2015 2015
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1 		collagen type XIII alpha 1 chain 0.608 0.654 3.7E-14
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.500 None 1.000 1 0 2015 2015