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: 54585
Gene Symbol: LZTFL1
LZTFL1
Q9NQ48 leucine zipper transcription factor like 1 64 0.638 0.692 5.9E-02 0.100 None 0 0
Entrez Id: 54345
Gene Symbol: SOX18
SOX18
P35713 SRY-box transcription factor 18 Transcription factor 112 0.578 0.692 0.15 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 0
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
Q9NPI0 transmembrane protein 138 52 0.656 0.385 4.7E-02 0.100 None 0 0
Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
O43924 phosphodiesterase 6D Enzyme 79 0.623 0.577 6.4E-03 0.100 None 0 0
Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
Q96BD5 PHD finger protein 21A 50 0.682 0.500 1.00 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
Q9P0N5 transmembrane protein 216 154 0.544 0.615 1.9E-03 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 0
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
Q9NXR1 nudE neurodevelopment protein 1 92 0.608 0.462 6.7E-03 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
P28482 mitogen-activated protein kinase 1 Kinase 1059 0.330 0.923 1.00 0.100 None 0 0
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
Q15139 protein kinase D1 Kinase 171 0.531 0.846 6.6E-07 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
Q9BY41 histone deacetylase 8 Epigenetic regulator 236 0.511 0.885 0.98 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 100 0.636 0.615 1.5E-08 0.100 None 0 0
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
Q8IWZ6 Bardet-Biedl syndrome 7 47 0.682 0.462 7.1E-09 0.100 None 0 0
Entrez Id: 55081
Gene Symbol: IFT57
IFT57
Q9NWB7 intraflagellar transport 57 Enzyme modulator 31 0.716 0.308 3.3E-10 0.100 None 0 0
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 121 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
Q6W2J9 BCL6 corepressor 314 0.471 0.808 1.00 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
O95613 pericentrin 156 0.564 0.808 4.0E-58 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 0 0
Entrez Id: 9968
Gene Symbol: MED12
MED12
Q93074 mediator complex subunit 12 Transcription factor 340 0.476 0.769 1.00 0.100 None 0 0
Entrez Id: 91647
Gene Symbol: ATPAF2
ATPAF2
Q8N5M1 ATP synthase mitochondrial F1 complex assembly factor 2 29 0.729 0.423 2.2E-09 0.100 None 0 0
Entrez Id: 9126
Gene Symbol: SMC3
SMC3
Q9UQE7 structural maintenance of chromosomes 3 193 0.535 0.846 1.00 0.100 None 0 0