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: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 1
Entrez Id: 27095
Gene Symbol: TRAPPC3
TRAPPC3
O43617 trafficking protein particle complex 3 9 0.792 0.385 0.25 0.100 None 0 1
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Q8NEZ3 WD repeat domain 19 143 0.554 0.769 4.6E-11 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 1
Entrez Id: 129880
Gene Symbol: BBS5
BBS5
Q8N3I7 Bardet-Biedl syndrome 5 51 0.659 0.577 4.8E-06 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 0.100 None 0 1
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 1
Entrez Id: 85444
Gene Symbol: LRRCC1
LRRCC1
Q9C099 leucine rich repeat and coiled-coil centrosomal protein 1 22 0.722 0.577 7.2E-21 0.100 None 0 1
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B
Q3SXY8 ADP ribosylation factor like GTPase 13B 79 0.631 0.538 2.7E-09 0.100 None 0 1
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
P09486 secreted protein acidic and cysteine rich Signaling 344 0.445 0.846 0.89 0.010 None 1.000 1 0 1991 1991
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 590 0.393 0.885 0.97 0.010 None 1.000 1 0 1991 1991
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
P07333 colony stimulating factor 1 receptor Kinase 356 0.448 0.808 0.13 0.010 None 1.000 1 0 1992 1992
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.020 None 1.000 2 0 1989 1996
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.010 None 1.000 1 0 1996 1996
Entrez Id: 1728
Gene Symbol: NQO1
NQO1
P15559 NAD(P)H quinone dehydrogenase 1 368 0.434 0.885 1.2E-09 0.030 None 1.000 3 0 1992 1999
Entrez Id: 92675
Gene Symbol: DTD1
DTD1
Q8TEA8 D-aminoacyl-tRNA deacylase 1 Enzyme 17 0.769 0.462 1.8E-03 0.030 None 1.000 3 0 1992 1999
Entrez Id: 81539
Gene Symbol: SLC38A1
SLC38A1
Q9H2H9 solute carrier family 38 member 1 Transporter 64 0.615 0.769 0.93 0.010 None 1.000 1 0 1999 1999
Entrez Id: 115111
Gene Symbol: SLC26A7
SLC26A7
Q8TE54 solute carrier family 26 member 7 Transporter 22 0.751 0.423 1.9E-09 0.010 None 1.000 1 0 1999 1999
Entrez Id: 65010
Gene Symbol: SLC26A6
SLC26A6
Q9BXS9 solute carrier family 26 member 6 Ion channel 24 0.695 0.500 9.9E-13 0.010 None 1.000 1 0 1999 1999
Entrez Id: 10861
Gene Symbol: SLC26A1
SLC26A1
Q9H2B4 solute carrier family 26 member 1 Ion channel 33 0.686 0.577 1.1E-11 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.010 None 1.000 1 0 1999 1999
Entrez Id: 6303
Gene Symbol: SAT1
SAT1
P21673 spermidine/spermine N1-acetyltransferase 1 135 0.539 0.808 0.87 0.010 None 1.000 1 0 1999 1999