Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
TNNC2 P02585 troponin C2, fast skeletal type Calcium-binding protein 1.6E-02 0.931 0.077 1
RAB28 P51157 RAB28, member RAS oncogene family 2.5E-02 0.792 0.077 1
VPS8 Q8N3P4 VPS8 subunit of CORVET complex 5.1E-08 1.000 0.077 1
CABP2 Q9NPB3 calcium binding protein 2 2.5E-03 0.861 0.115 1
KLHL24 Q6TFL4 kelch like family member 24 1.7E-03 0.821 0.115 1
CCDC78 A2IDD5 coiled-coil domain containing 78 3.0E-31 0.760 0.115 1
SYNE4 Q8N205 spectrin repeat containing nuclear envelope family member 4 4.2E-12 0.861 0.115 1
TMIE Q8NEW7 transmembrane inner ear 7.7E-05 0.890 0.115 1
TPRN Q4KMQ1 taperin 7.2E-03 0.839 0.115 1
GRXCR1 A8MXD5 glutaredoxin and cysteine rich domain containing 1 3.9E-11 0.861 0.115 1
PJVK Q0ZLH3 pejvakin 3.7E-08 0.769 0.115 1
GRXCR2 A6NFK2 glutaredoxin and cysteine rich domain containing 2 1.0E-07 0.861 0.115 1
PET117 Q6UWS5 PET117 cytochrome c oxidase chaperone 3.2E-02 0.769 0.154 7
SERPINB8 P50452 serpin family B member 8 Enzyme modulator 2.8E-09 0.792 0.154 1
OSBPL2 Q9H1P3 oxysterol binding protein like 2 0.13 0.861 0.154 1
BCKDK O14874 branched chain keto acid dehydrogenase kinase Kinase 5.7E-05 0.769 0.154 1
DMGDH Q9UI17 dimethylglycine dehydrogenase Enzyme 2.1E-24 0.890 0.154 1
BDP1 A6H8Y1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Nucleic acid binding 1.3E-21 0.890 0.154 1
JPH2 Q9BR39 junctophilin 2 4.5E-05 0.736 0.154 1
CALR3 Q96L12 calreticulin 3 Calcium-binding protein 7.0E-10 0.839 0.154 1
SCN2B O60939 sodium voltage-gated channel beta subunit 2 Ion channel 1.7E-03 0.678 0.192 7
PTCD3 Q96EY7 pentatricopeptide repeat domain 3 2.5E-22 0.769 0.192 7
STRC Q7RTU9 stereocilin Extracellular structure 1.8E-15 0.700 0.192 1
LRTOMT Q8WZ04 Q96E66 leucine rich transmembrane and O-methyltransferase domain containing Enzyme 7.0E-05 0.792 0.192 1