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: 29108
Gene Symbol: PYCARD
PYCARD
Q9ULZ3 PYD and CARD domain containing Enzyme 294 0.457 0.808 2.0E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
Q04671 OCA2 melanosomal transmembrane protein 141 0.539 0.808 2.9E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
P16234 platelet derived growth factor receptor alpha Kinase 452 0.415 0.808 1.00 0.100 None 1.000 1 1 2011 2011
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
O75051 plexin A2 307 0.447 0.808 1.1E-06 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6770
Gene Symbol: STAR
STAR
P49675 steroidogenic acute regulatory protein 177 0.513 0.808 8.8E-11 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7299
Gene Symbol: TYR
TYR
P14679 tyrosinase Enzyme 281 0.473 0.808 5.0E-32 0.110 None 1.000 1 0 2018 2018
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 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: 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: 23394
Gene Symbol: ADNP
ADNP
Q9H2P0 activity dependent neuroprotector homeobox 171 0.561 0.808 1.00 0.100 None 0 0
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 225 0.521 0.808 1.00 0.100 None 0 0
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
P50148 G protein subunit alpha q Enzyme modulator 219 0.516 0.808 0.98 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 177 0.556 0.808 1.00 0.100 None 0 1
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
Q9P267 methyl-CpG binding domain protein 5 120 0.581 0.808 1.00 0.100 None 0 0
Entrez Id: 3490
Gene Symbol: IGFBP7
IGFBP7
Q16270 insulin like growth factor binding protein 7 241 0.476 0.769 1.3E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6366
Gene Symbol: CCL21
CCL21
O00585 C-C motif chemokine ligand 21 Signaling 186 0.502 0.769 3.6E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 907
Gene Symbol: CCT
CCT
cataract, congenital, total 75 0.588 0.769 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
Q14055 collagen type IX alpha 2 chain 116 0.572 0.769 1.0E-08 0.100 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
Q14050 collagen type IX alpha 3 chain 125 0.569 0.769 3.3E-12 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: 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: 404672
Gene Symbol: GTF2H5
GTF2H5
Q6ZYL4 general transcription factor IIH subunit 5 152 0.556 0.769 4.5E-02 0.100 None 0 0
Entrez Id: 406960
Gene Symbol: MIR184
MIR184
microRNA 184 119 0.542 0.769 0.100 None 0 0
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
Q14938 nuclear factor I X Nucleic acid binding 183 0.547 0.769 1.00 0.100 None 0 0