Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
STRC Q7RTU9 stereocilin Extracellular structure 1.8E-15 0.700 0.192 7 12
GIPC3 Q8TF64 GIPC PDZ domain containing family member 3 Enzyme 9.3E-03 0.780 0.231 3 7
POLR2F P61218 RNA polymerase II subunit F Enzyme 1.3E-02 0.722 0.308 20 40
PRSS23 O95084 serine protease 23 Enzyme 1.9E-05 0.722 0.346 12 8
CKMT1B P12532 creatine kinase, mitochondrial 1B Kinase 3.2E-05 0.729 0.346 7 9
MYO15A Q9UKN7 myosin XVA Cellular structure 1.3E-56 0.722 0.346 6 72
CEP78 Q5JTW2 centrosomal protein 78 6.2E-12 0.686 0.346 3 7
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20 14
TECTA O75443 tectorin alpha 3.0E-16 0.700 0.385 7 16
CDC14A Q9UNH5 cell division cycle 14A 9.6E-08 0.736 0.385 2 5
MYO7A Q13402 myosin VIIA Cellular structure 1.6E-38 0.585 0.423 17 172
LMX1A Q8TE12 LIM homeobox transcription factor 1 alpha Nucleic acid binding 0.99 0.670 0.423 1 1
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 31 68
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577 12 7
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615 22 11
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
COL4A5 P29400 collagen type IV alpha 5 chain 1.00 0.553 0.654 22 616
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 29 59
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 69 51