Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346 3 27
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692 5 6
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846 8 14
MECR Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 2.2E-05 0.736 0.385 8 6
NPC2 P61916 NPC intracellular cholesterol transporter 2 1.8E-03 0.612 0.769 9 22
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769 9 13
OPHN1 O60890 oligophrenin 1 Enzyme modulator 1.00 0.633 0.538 9 7
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
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615 15 7
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538 16 10
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500 16 3
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423 17 31
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538 27 133
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808 27 14
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538 28 7
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 30 26
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808 30 12
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615 32 7
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808 34 1
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 40 74
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654 40 19