Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
FBN1 P35555 fibrillin 1 calcium-binding protein; cell adhesion molecule; extracellular matrix protein; signaling molecule 1.00 0.469 0.690 52 388
FGFR3 P22607 fibroblast growth factor receptor 3 1.8E-05 0.417 0.759 48 37
COL7A1 Q02388 collagen type VII alpha 1 chain receptor 8.9E-42 0.552 0.586 39 52
PTPN11 Q06124 protein tyrosine phosphatase, non-receptor type 11 1.00 0.429 0.828 32 69
ABCC8 Q09428 ATP binding cassette subfamily C member 8 transporter 2.7E-23 0.508 0.690 31 98
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.474 0.724 30 80
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus enzyme modulator 0.71 0.443 0.793 29 21
DMD P11532 dystrophin 1.00 0.477 0.724 27 366
RYR1 P21817 ryanodine receptor 1 receptor; transporter 2.3E-28 0.545 0.621 26 114
RET P07949 ret proto-oncogene 1.00 0.418 0.724 25 44
MFN2 O95140 mitofusin 2 hydrolase; phosphatase 0.99 0.541 0.759 24 36
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 9.0E-45 0.624 0.621 19 189
DHX30 Q7L2E3 DExH-box helicase 30 nucleic acid binding 1.00 0.857 0.241 17 4
PRMT7 Q9NVM4 protein arginine methyltransferase 7 transferase 5.6E-15 0.672 0.379 16 6
FLNA P21333 filamin A 1.00 0.456 0.793 14 72
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.594 0.552 14 16
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 enzyme modulator 1.00 0.536 0.655 11 24
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain transcription factor 1.00 0.652 0.414 9 16
MTFMT Q96DP5 mitochondrial methionyl-tRNA formyltransferase transferase 4.4E-06 0.743 0.241 9 11
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.663 0.586 9 10
SBDS Q9Y3A5 SBDS, ribosome maturation factor nucleic acid binding; transcription factor 3.5E-04 0.616 0.552 8 12
TPO P07202 thyroid peroxidase oxidoreductase 1.9E-20 0.514 0.793 8 10
CUL4B Q13620 cullin 4B ligase 1.00 0.636 0.552 7 8
G6PC P35575 glucose-6-phosphatase catalytic subunit 1.8E-05 0.584 0.517 4 32