Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 261
ELN P15502 elastin 2.1E-14 0.415 0.885 248
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 213
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 177
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808 175
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808 175
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769 175
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731 175
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769 175
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731 175
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 171
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 165
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 158
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 158
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615 157
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 157