Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 425
FLNA P21333 filamin A 1.00 0.419 0.846 298
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808 168
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654 157
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 155
SLC26A2 P50443 solute carrier family 26 member 2 Transporter 7.5E-07 0.553 0.692 149
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769 147
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 145
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 141
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654 138
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654 134
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808 121
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846 117
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692 100
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615 99
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615 95
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769 95
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577 94
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846 91
SLC29A3 Q9BZD2 solute carrier family 29 member 3 Transporter 1.3E-07 0.578 0.769 88
WNT7A O00755 Wnt family member 7A Signaling 3.6E-02 0.531 0.692 88
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731 87
PTDSS1 P48651 phosphatidylserine synthase 1 Enzyme 0.15 0.610 0.615 86