Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
P02461 collagen type III alpha 1 chain 301 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
P12107 collagen type XI alpha 1 chain 268 0.495 0.846 1.00 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
P13942 collagen type XI alpha 2 chain 399 0.435 0.846 0.70 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 0 0
Entrez Id: 140628
Gene Symbol: GATA5
GATA5
Q9BWX5 GATA binding protein 5 101 0.578 0.615 0.28 0.100 None 0 0
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
P16410 cytotoxic T-lymphocyte associated protein 4 722 0.369 0.923 0.94 0.100 None 0 0
Entrez Id: 150468
Gene Symbol: CKAP2L
CKAP2L
Q8IYA6 cytoskeleton associated protein 2 like 66 0.666 0.577 1.6E-04 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 124 0.581 0.615 3.2E-07 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0 1
Entrez Id: 182
Gene Symbol: JAG1
JAG1
P78504 jagged canonical Notch ligand 1 420 0.429 0.808 1.00 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
O15360 FA complementation group A 211 0.505 0.731 1.6E-68 0.100 None 0 0
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
Q00597 FA complementation group C 218 0.507 0.808 2.8E-13 0.100 None 0 0
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
Q9BXW9 FA complementation group D2 272 0.479 0.885 1.1E-30 0.100 None 0 0
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
Q9HB96 FA complementation group E 144 0.553 0.808 1.5E-06 0.100 None 0 0
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
Q8NB91 FA complementation group B 278 0.468 0.769 1.00 0.100 None 0 0
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
Q9NPI8 FA complementation group F 153 0.535 0.731 0.46 0.100 None 0 0
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
O15287 FA complementation group G 132 0.556 0.769 2.5E-14 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
P21333 filamin A 571 0.419 0.846 1.00 0.100 None 0 0
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
O75369 filamin B 374 0.458 0.923 6.1E-10 0.100 None 0 0
Entrez Id: 23384
Gene Symbol: SPECC1L
SPECC1L
Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 117 0.593 0.654 0.86 0.100 None 0 0
Entrez Id: 25839
Gene Symbol: COG4
COG4
Q9H9E3 component of oligomeric golgi complex 4 111 0.631 0.615 4.0E-09 0.100 None 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
Q86VV8 rotatin 100 0.619 0.654 9.0E-34 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.100 None 0 0