Disease: Miller Dieker syndrome
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
BLM P54132 BLM RecQ like helicase 1.5E-15 0.535 0.808
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
CCND1 P24385 cyclin D1 Enzyme modulator 0.89 0.344 0.923
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
FANCL Q9NW38 FA complementation group L Enzyme 5.9E-23 0.551 0.731
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731
GSTM1 P09488 glutathione S-transferase mu 1 2.1E-03 0.380 0.923
GSTT1 P30711 glutathione S-transferase theta 1 1.5E-04 0.393 0.923
HIF1A Q16665 hypoxia inducible factor 1 subunit alpha Transcription factor 0.98 0.327 0.923
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
JAK2 O60674 Janus kinase 2 Kinase 0.65 0.385 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923