Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808 8
CACNB2 Q08289 calcium voltage-gated channel auxiliary subunit beta 2 Ion channel 2.7E-06 0.659 0.538 8
HCN4 Q9Y3Q4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 Ion channel 1.00 0.617 0.269 8
NARS2 Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 7.1E-08 0.650 0.577 8
PKP2 Q99959 plakophilin 2 Cellular structure 3.1E-18 0.606 0.538 8
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 8
CACNA2D1 P54289 calcium voltage-gated channel auxiliary subunit alpha2delta 1 Ion channel 1.00 0.641 0.500 7
CDH1 P12830 cadherin 1 0.15 0.401 0.808 7
CDKN1B P46527 cyclin dependent kinase inhibitor 1B 0.62 0.409 0.769 7
COX10 Q12887 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Enzyme 8.4E-02 0.623 0.654 7
COX15 Q7KZN9 cytochrome c oxidase assembly homolog COX15 1.1E-13 0.638 0.538 7
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346 7
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731 7
FOXRED1 Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 2.0E-16 0.633 0.462 7
GFM1 Q96RP9 G elongation factor mitochondrial 1 9.3E-13 0.623 0.692 7
GFM2 Q969S9 G elongation factor mitochondrial 2 Enzyme 1.5E-18 0.736 0.269 7
GPD1L Q8N335 glycerol-3-phosphate dehydrogenase 1 like Enzyme 3.8E-02 0.674 0.308 7
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654 7
KCND3 Q9UK17 potassium voltage-gated channel subfamily D member 3 Ion channel 0.99 0.619 0.615 7
KCNJ8 Q15842 potassium inwardly rectifying channel subfamily J member 8 Ion channel 0.38 0.619 0.538 7
LRPPRC P42704 leucine rich pentatricopeptide repeat containing 2.3E-10 0.493 0.769 7
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 7
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731 7
NDUFA1 O15239 NADH:ubiquinone oxidoreductase subunit A1 0.55 0.636 0.423 7