Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 137 1044
PTCH1 Q13635 patched 1 1.00 0.398 0.885 116 144
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 78 76
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 77 192
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769 71 47
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
SOS1 Q07889 SOS Ras/Rac guanine nucleotide exchange factor 1 Enzyme modulator 1.00 0.485 0.808 62 28
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731 57 8
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462 46 10
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 36 77
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 33 264
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577 31 68
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 30 42
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 29 36
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
EFTUD2 Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 1.00 0.647 0.462 26 23
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3