Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ZSWIM6 Q9HCJ5 zinc finger SWIM-type containing 6 1.00 0.626 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
TMEM70 Q9BUB7 transmembrane protein 70 2.9E-02 0.636 0.654
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
TPO P07202 thyroid peroxidase Enzyme 1.8E-21 0.455 0.846
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
THOC2 Q8NI27 THO complex 2 Transcription factor 1.00 0.650 0.538
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
ROGDI Q9GZN7 rogdi atypical leucine zipper 2.6E-09 0.663 0.462
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
PTCH1 Q13635 patched 1 1.00 0.398 0.885
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577