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: 79823
Gene Symbol: CAMKMT
CAMKMT 		calmodulin-lysine N-methyltransferase 0.510 0.808 1.4E-15
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 9581
Gene Symbol: PREPL
PREPL 		prolyl endopeptidase like 0.644 0.538 2.2E-13
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		disease 0.300 None 1.000 1 0 2013 2013