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: 43
Gene Symbol: ACHE
ACHE
P22303 acetylcholinesterase (Cartwright blood group) Enzyme 418 0.445 0.885 1.00 0.020 None 1.000 2 0 2000 2019
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.010 None 1.000 1 0 2000 2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 1.000 10 0 2001 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
P05231 interleukin 6 2367 0.248 0.962 0.32 0.030 None 1.000 3 0 2001 2017
Entrez Id: 90523
Gene Symbol: MLIP
MLIP
Q5VWP3 muscular LMNA interacting protein 37 0.682 0.577 3.2E-16 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 2937
Gene Symbol: GSS
GSS
P48637 glutathione synthetase Enzyme 73 0.626 0.731 1.8E-06 0.010 None 1.000 1 0 2001 2001
Entrez Id: 102157402
Gene Symbol: AK6
AK6
Q9Y3D8 adenylate kinase 6 38 0.678 0.538 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3092
Gene Symbol: HIP1
HIP1
O00291 huntingtin interacting protein 1 Cellular structure 56 0.653 0.577 0.76 0.010 None 1.000 1 0 2001 2001
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
P51648 aldehyde dehydrogenase 3 family member A2 78 0.619 0.769 9.4E-06 0.010 None 1.000 1 0 2002 2002
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.010 None 1.000 1 0 2002 2002
Entrez Id: 831
Gene Symbol: CAST
CAST
P20810 calpastatin 141 0.541 0.846 4.1E-12 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
P28715 ERCC excision repair 5, endonuclease 238 0.499 0.731 2.7E-13 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.040 None 1.000 4 0 2003 2018
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.040 None 1.000 4 0 2003 2019
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
P56693 SRY-box transcription factor 10 334 0.461 0.808 0.99 0.020 None 1.000 2 0 2003 2018
Entrez Id: 6821
Gene Symbol: SUOX
SUOX
P51687 sulfite oxidase 67 0.638 0.615 9.4E-07 0.020 None 1.000 2 0 2003 2018
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.010 None 1.000 1 0 2003 2003
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.010 None 1.000 1 0 2003 2003
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.010 None 1.000 1 0 2003 2003
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.040 None 1.000 4 0 2004 2013
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
P20813 cytochrome P450 family 2 subfamily B member 6 388 0.428 0.846 1.9E-10 0.020 None 1.000 2 2 2004 2007
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.020 None 1.000 2 0 2004 2013
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1
P53667 LIM domain kinase 1 Kinase 271 0.488 0.731 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2
Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 201 0.529 0.808 1.00 0.010 None 1.000 1 0 2004 2004