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: 7045
Gene Symbol: TGFBI
TGFBI
Q15582 transforming growth factor beta induced Signaling 225 0.484 0.769 6.0E-08 0.110 None 1.000 1 0 1999 1999
Entrez Id: 8518
Gene Symbol: ELP1
ELP1
O95163 elongator complex protein 1 Enzyme modulator 138 0.579 0.769 2.1E-21 0.100 None 0 0
Entrez Id: 7390
Gene Symbol: UROS
UROS
P10746 uroporphyrinogen III synthase Enzyme 58 0.678 0.462 3.2E-02 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
O43462 membrane bound transcription factor peptidase, site 2 Enzyme 205 0.513 0.769 1.00 0.100 None 0 0
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
P04629 neurotrophic receptor tyrosine kinase 1 Kinase 443 0.422 0.808 2.0E-06 0.100 None 0 0
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
P39210 mitochondrial inner membrane protein MPV17 Receptor 134 0.595 0.577 9.7E-11 0.100 None 0 0
Entrez Id: 4166
Gene Symbol: CHST6
CHST6
Q9GZX3 carbohydrate sulfotransferase 6 16 0.760 0.269 2.4E-09 0.100 None 0 0
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.100 None 0 0
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
P15976 GATA binding protein 1 264 0.483 0.808 0.95 0.100 None 0 0
Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
Q99958 forkhead box C2 Transcription factor 168 0.515 0.731 0.13 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.100 None 0 0
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
O15520 fibroblast growth factor 10 Signaling 152 0.530 0.692 0.94 0.100 None 0 0
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.100 None 0 0
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
Q9UMD9 collagen type XVII alpha 1 chain 138 0.545 0.769 2.3E-27 0.020 None 1.000 2 0 2016 2016