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: 368
Gene Symbol: ABCC6
ABCC6
O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.100 None 0 0
Entrez Id: 26160
Gene Symbol: IFT172
IFT172
Q9UG01 intraflagellar transport 172 Cellular structure 123 0.582 0.654 3.3E-33 0.100 None 0 0
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
O75147 obscurin like cytoskeletal adaptor 1 64 0.686 0.308 1.0E-25 0.100 None 0 0
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
Q13461 forkhead box E3 Transcription factor 118 0.568 0.654 0.18 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 3
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 0
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
P84022 SMAD family member 3 Transcription factor 470 0.415 0.923 0.80 0.100 None 0 0
Entrez Id: 4144
Gene Symbol: MAT2A
MAT2A
P31153 methionine adenosyltransferase 2A Enzyme 81 0.615 0.654 1.00 0.100 None 0 0
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.100 None 0 1
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
Q13976 protein kinase cGMP-dependent 1 Kinase 114 0.603 0.769 1.00 0.100 None 0 0
Entrez Id: 55112
Gene Symbol: WDR60
WDR60
Q8WVS4 WD repeat domain 60 Cellular structure 91 0.592 0.654 4.3E-12 0.100 None 0 0
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1
Q9UM00 transmembrane and coiled-coil domains 1 122 0.588 0.654 9.4E-10 0.100 None 0 1
Entrez Id: 54453
Gene Symbol: RIN2
RIN2
Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 86 0.623 0.692 8.1E-04 0.100 None 0 0
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
O00443 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha Kinase 80 0.633 0.692 1.0E-02 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Q9UMX1 SUFU negative regulator of hedgehog signaling 272 0.493 0.769 1.00 0.100 None 0 0
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 97 0.601 0.500 3.2E-09 0.100 None 0 0
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
Q15746 myosin light chain kinase Kinase 199 0.510 0.846 9.2E-12 0.100 None 0 0
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
P35749 myosin heavy chain 11 161 0.528 0.731 0.77 0.100 None 0 0
Entrez Id: 4331
Gene Symbol: MNAT1
MNAT1
P51948 MNAT1 component of CDK activating kinase Enzyme modulator 131 0.539 0.846 1.3E-12 0.010 None 1.000 1 0 2014 2014