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: 5495
Gene Symbol: PPM1B
PPM1B 		protein phosphatase, Mg2+/Mn2+ dependent 1B 0.711 0.500 9.1E-03
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1 		solute carrier family 3 member 1 0.593 0.731 7.2E-27
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT 		calmodulin-lysine N-methyltransferase 0.510 0.808 1.4E-15
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		disease 0.300 None 1.000 1 0 2001 2001
Entrez Id: 9581
Gene Symbol: PREPL
PREPL 		prolyl endopeptidase like 0.644 0.538 2.2E-13
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		disease 0.300 None 1.000 1 0 2001 2001