Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
COG6 Q9Y2V7 component of oligomeric golgi complex 6 6.4E-16 0.644 0.577
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KMT2C Q8NEZ4 lysine methyltransferase 2C 1.00 0.558 0.692
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923