Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MAPK8IP3 Q9UPT6 mitogen-activated protein kinase 8 interacting protein 3 Enzyme modulator 1.00 0.682 0.462 8 1
AAR2 Q9Y312 AAR2 splicing factor 8.3E-06 0.839 0.192 8 1
LRRCC1 Q9C099 leucine rich repeat and coiled-coil centrosomal protein 1 7.2E-21 0.722 0.577 8 1
CDK8 P49336 cyclin dependent kinase 8 Kinase 0.41 0.597 0.654 7 1
MLLT1 Q03111 MLLT1 super elongation complex subunit Nucleic acid binding 0.99 0.663 0.346 7 1
STX7 O15400 syntaxin 7 Transporter 5.0E-06 0.821 0.231 7 1
TAX1BP3 O14907 Tax1 binding protein 3 5.2E-03 0.716 0.615 7 1
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308 7 1
FAM98C Q17RN3 family with sequence similarity 98 member C 1.1E-07 0.931 0.115 7 1
FAM120AOS Q5T036 family with sequence similarity 120A opposite strand 2.2E-02 0.861 0.154 7 1
P2RX5-TAX1BP3 P2RX5-TAX1BP3 readthrough (NMD candidate) 0.588 0.769 7 1
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885 6 1
CAMK4 Q16566 calcium/calmodulin dependent protein kinase IV Kinase 0.51 0.621 0.654 6 1
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577 6 1
WNT2B Q93097 Wnt family member 2B Signaling 3.8E-02 0.644 0.615 6 1
MATN4 O95460 matrilin 4 Receptor 1.1E-08 0.769 0.308 6 1
MED13 Q9UHV7 mediator complex subunit 13 1.00 0.711 0.538 6 1
HOXB13 Q92826 homeobox B13 3.7E-08 0.573 0.462 6 1
RPS6KC1 Q96S38 ribosomal protein S6 kinase C1 Kinase 1.3E-03 0.821 0.231 6 1
TRAPPC3 O43617 trafficking protein particle complex 3 0.25 0.792 0.385 6 1
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308 6 1
TMEM47 Q9BQJ4 transmembrane protein 47 0.80 0.821 0.154 6 1
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192 6 1
DMBX1 Q8NFW5 diencephalon/mesencephalon homeobox 1 0.93 0.780 0.115 6 1