Disease: Intellectual Disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ANK1 P16157 ankyrin 1 1.00 0.540 0.885
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
CA4 P22748 carbonic anhydrase 4 7.1E-06 0.674 0.577
LYST Q99698 lysosomal trafficking regulator 1.5E-02 0.621 0.692
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COX15 Q7KZN9 cytochrome c oxidase assembly homolog COX15 1.1E-13 0.638 0.538
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808
DCX O43602 doublecortin 0.30 0.511 0.769
ATN1 P54259 atrophin 1 1.00 0.409 0.885
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808