Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
TTN-AS1 TTN antisense RNA 1 0.599 0.577 78 567
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 61 61
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654 40 19
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615 32 7
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808 27 14
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538 27 133
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423 17 31
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346 11 1
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231 11 1
NPC2 P61916 NPC intracellular cholesterol transporter 2 1.8E-03 0.612 0.769 9 22
MECR Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 2.2E-05 0.736 0.385 8 6
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846 8 14
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346 3 27
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538 9 7
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769 54 237
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731 44 43