Disease: Intellectual Disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769
ATP7B P35670 ATPase copper transporting beta Transporter 4.8E-30 0.529 0.654
FCSK Q8N0W3 fucose kinase Kinase 1.0E-29 0.769 0.192
DOCK6 Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 1.3E-26 0.610 0.577
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
MADD Q8WXG6 MAP kinase activating death domain 1.5E-14 0.644 0.538
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
BRAT1 Q6PJG6 BRCA1 associated ATM activator 1 7.4E-13 0.695 0.231
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692
PIGO Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 6.1E-11 0.636 0.615
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
UGP2 Q16851 UDP-glucose pyrophosphorylase 2 1.4E-08 0.711 0.308
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
RARS1 P54136 arginyl-tRNA synthetase 1 3.3E-08 0.604 0.538
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423