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
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
TRNS1 tRNA 0.555 0.808
RSS Russell Silver syndrome 0.578 0.692
HCA1 Hypercalciuria, absorptive, 1 0.633 0.654
MIR137 microRNA 137 0.513 0.846
PTLS Potocki-Lupski syndrome 0.780 0.308
DEL11P13 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 0.716 0.538
FMR1-IT1 FMR1 intronic transcript 1 0.716 0.385
SIK1 A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 0.94 0.544 0.731
MACROD2 A1Z1Q3 mono-ADP ribosylhydrolase 2 0.43 0.686 0.423
PSD A5PKW4 pleckstrin and Sec7 domain containing 0.90 0.626 0.654
KLLN B2CW77 killin, p53 regulated DNA replication inhibitor 5.1E-03 0.578 0.654
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
CHL1 O00533 cell adhesion molecule L1 like 8.9E-12 0.603 0.654
DLL1 O00548 delta like canonical Notch ligand 1 1.00 0.492 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885
ASTN1 O14525 astrotactin 1 1.00 0.736 0.308
CUX2 O14529 cut like homeobox 2 Transcription factor 1.00 0.644 0.500
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
MEIS2 O14770 Meis homeobox 2 Enzyme 1.00 0.601 0.808
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
BCKDK O14874 branched chain keto acid dehydrogenase kinase Kinase 5.7E-05 0.769 0.154