Disease: Intellectual Disability
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 0.641 0.462
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
XIST X inactive specific transcript 0.522 0.808
NANS Q9NR45 N-acetylneuraminate synthase Enzyme 0.545 0.692
RSS Russell Silver syndrome 0.578 0.692
H3P8 H3 histone pseudogene 8 0.544 0.808
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
CNTN6 Q9UQ52 contactin 6 Receptor 9.0E-31 0.678 0.462
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
PCDH15 Q96QU1 protocadherin related 15 8.0E-25 0.601 0.577
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
KANK1 Q14678 KN motif and ankyrin repeat domains 1 8.0E-18 0.641 0.538
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
AP4M1 O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 4.5E-17 0.638 0.500
DPH1 Q9BZG8 diphthamide biosynthesis 1 8.0E-17 0.653 0.538
BBS4 Q96RK4 Bardet-Biedl syndrome 4 1.5E-16 0.647 0.615