Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577 6 1
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
LMX1A Q8TE12 LIM homeobox transcription factor 1 alpha Nucleic acid binding 0.99 0.670 0.423 1 1
PRKCB P05771 protein kinase C beta Kinase 1.00 0.453 0.885 1 1
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538 28 2
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
CDC14A Q9UNH5 cell division cycle 14A 9.6E-08 0.736 0.385 2 5
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577 12 7
GIPC3 Q8TF64 GIPC PDZ domain containing family member 3 Enzyme 9.3E-03 0.780 0.231 3 7
CEP78 Q5JTW2 centrosomal protein 78 6.2E-12 0.686 0.346 3 7
PRSS23 O95084 serine protease 23 Enzyme 1.9E-05 0.722 0.346 12 8
FZD4 Q9ULV1 frizzled class receptor 4 G-protein coupled receptor 0.97 0.490 0.923 12 8
TMCO1 Q9UM00 transmembrane and coiled-coil domains 1 9.4E-10 0.588 0.654 30 9
CKMT1B P12532 creatine kinase, mitochondrial 1B Kinase 3.2E-05 0.729 0.346 7 9
CHN1 P15882 chimerin 1 3.1E-02 0.573 0.615 22 11
TRNL1 tRNA 0.534 0.731 22 11
STRC Q7RTU9 stereocilin Extracellular structure 1.8E-15 0.700 0.192 7 12
EDNRB P24530 endothelin receptor type B G-protein coupled receptor 9.2E-03 0.470 0.846 13 13
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808 9 13
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385 20 14
COL11A2 P13942 collagen type XI alpha 2 chain 0.70 0.435 0.846 8 16
TECTA O75443 tectorin alpha 3.0E-16 0.700 0.385 7 16
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18