Disease: Global developmental delay
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
NANS Q9NR45 N-acetylneuraminate synthase Enzyme 0.545 0.692
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
ZRANB3 Q5FWF4 zinc finger RANBP2-type containing 3 4.2E-21 0.780 0.577
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
COG6 Q9Y2V7 component of oligomeric golgi complex 6 6.4E-16 0.644 0.577
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
ROBO1 Q9Y6N7 roundabout guidance receptor 1 7.3E-16 0.535 0.731
CAMKMT Q7Z624 calmodulin-lysine N-methyltransferase 1.4E-15 0.510 0.808
KDM5B Q9UGL1 lysine demethylase 5B Epigenetic regulator 7.9E-15 0.532 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
RPE65 Q16518 retinoid isomerohydrolase RPE65 Enzyme 6.5E-14 0.417 0.808
PCDH12 Q9NPG4 protocadherin 12 2.9E-13 0.722 0.346
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846