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: 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 0
Entrez Id: 4548
Gene Symbol: MTR
MTR
Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 245 0.482 0.808 2.4E-12 0.100 None 0 0
Entrez Id: 51085
Gene Symbol: MLXIPL
MLXIPL
Q9NP71 MLX interacting protein like 165 0.554 0.731 4.8E-02 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 55773
Gene Symbol: TBC1D23
TBC1D23
Q9NUY8 TBC1 domain family member 23 33 0.729 0.308 1.8E-05 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.100 None 0 0
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
Q9UGU0 transcription factor 20 Transcription factor 78 0.644 0.423 1.00 0.100 None 0 0
Entrez Id: 7532
Gene Symbol: YWHAG
YWHAG
P61981 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Chaperone 85 0.621 0.500 0.96 0.100 None 0 0
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
Q9BUN5 coiled-coil domain containing 28B Receptor 55 0.659 0.538 3.2E-09 0.100 None 0 0
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 0 1
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 0 1
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
Q9UK17 potassium voltage-gated channel subfamily D member 3 Ion channel 94 0.619 0.615 0.99 0.100 None 0 0
Entrez Id: 10166
Gene Symbol: SLC25A15
SLC25A15
Q9Y619 solute carrier family 25 member 15 Transporter 54 0.711 0.346 3.7E-07 0.100 None 0 0
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 0 0
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 325 0.468 0.846 1.4E-12 0.100 None 0 0
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
Q99757 thioredoxin 2 Enzyme 76 0.628 0.615 2.6E-05 0.100 None 0 0
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
P25391 laminin subunit alpha 1 107 0.582 0.808 3.2E-32 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 249 0.510 0.692 1.00 0.100 None 0 1
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 148 0.573 0.577 7.6E-02 0.100 None 0 0