Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 1.000 1 1 2014 2014
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.100 None 0 0
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.100 None 0 0
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C
Q9P219 coiled-coil domain containing 88C 54 0.647 0.346 3.3E-08 0.100 None 0 0
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1
O60762 dolichyl-phosphate mannosyltransferase subunit 1, catalytic Enzyme 57 0.695 0.385 1.6E-04 0.100 None 0 0