Disease: Mental Retardation
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
FMR1-IT1 FMR1 intronic transcript 1 0.716 0.385
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
TBX3 O15119 T-box transcription factor 3 Transcription factor 0.99 0.525 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
ZEB2 O60315 zinc finger E-box binding homeobox 2 Transcription factor 1.00 0.471 0.808
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
OPN1LW P04000 opsin 1, long wave sensitive G-protein coupled receptor 0.98 0.497 0.808
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
APP P05067 amyloid beta precursor protein Enzyme modulator 4.7E-02 0.422 0.846
IL6 P05231 interleukin 6 0.32 0.248 0.962
UROD P06132 uroporphyrinogen decarboxylase 1.3E-08 0.521 0.769
EIF4E P06730 eukaryotic translation initiation factor 4E Nucleic acid binding 0.94 0.448 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
ELN P15502 elastin 2.1E-14 0.415 0.885