Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808 128
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808 128
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808 127
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731 124
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692 124
SON P18583 SON DNA binding protein 1.00 0.565 0.769 124
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808 122
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846 122
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808 120
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923 119
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 118
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769 117
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 110
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846 106
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769 106
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 104
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 100
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 98
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769 93
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846 91
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 91
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808 89
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 85
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 85