Disease: Intellectual Disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
POLR3B Q9NW08 RNA polymerase III subunit B Enzyme 1.7E-23 0.628 0.654
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
SEC23B Q15437 SEC23 homolog B, COPII coat complex component Enzyme modulator 6.1E-20 0.579 0.692
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731