Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
TGFBR2 P37173 transforming growth factor beta receptor 2 Kinase 0.13 0.413 0.846
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
SMAD3 P84022 SMAD family member 3 Transcription factor 0.80 0.415 0.923
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
GATA1 P15976 GATA binding protein 1 0.95 0.483 0.808
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
IFT140 Q96RY7 intraflagellar transport 140 Cellular structure 9.9E-24 0.572 0.692
IFT172 Q9UG01 intraflagellar transport 172 Cellular structure 3.3E-33 0.582 0.654
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692
TGFBR1 P36897 transforming growth factor beta receptor 1 Kinase 0.85 0.451 0.885
PRPH2 P23942 peripherin 2 0.12 0.551 0.500
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
SEMA4A Q9H3S1 semaphorin 4A Signaling 1.8E-05 0.569 0.692
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
USH2A O75445 usherin Enzyme modulator 1.6E-94 0.579 0.692