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: 7170
Gene Symbol: TPM3
TPM3
P06753 tropomyosin 3 Cellular structure 297 0.490 0.808 6.7E-03 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 0
Entrez Id: 7681
Gene Symbol: MKRN3
MKRN3
Q13064 makorin ring finger protein 3 Enzyme 92 0.619 0.615 0.28 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: 7469
Gene Symbol: NELFA
NELFA
Q9H3P2 negative elongation factor complex member A 82 0.619 0.615 0.13 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 224 0.507 0.769 1.00 0.100 None 0 0
Entrez Id: 7467
Gene Symbol: WHCR
WHCR
Wolf-Hirschhorn syndrome chromosome region 78 0.638 0.577 0.100 None 0 0
Entrez Id: 7317
Gene Symbol: UBA1
UBA1
P22314 ubiquitin like modifier activating enzyme 1 Enzyme 62 0.666 0.615 1.00 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
A4D126 CDP-L-ribitol pyrophosphorylase A 134 0.566 0.654 2.5E-04 0.100 None 0 0
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
P43004 solute carrier family 1 member 2 Transporter 208 0.511 0.731 0.71 0.100 None 0 0
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
P61328 fibroblast growth factor 12 Signaling 95 0.619 0.615 0.62 0.100 None 0 0
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.100 None 0 0
Entrez Id: 1487
Gene Symbol: CTBP1
CTBP1
Q13363 C-terminal binding protein 1 Transcription factor 154 0.559 0.692 0.98 0.100 None 0 0
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 246 0.490 0.769 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 0.100 None 0 0
Entrez Id: 1355
Gene Symbol: COX15
COX15
Q7KZN9 cytochrome c oxidase assembly homolog COX15 70 0.638 0.538 1.1E-13 0.100 None 0 0
Entrez Id: 131377
Gene Symbol: KLHL40
KLHL40
Q2TBA0 kelch like family member 40 43 0.722 0.385 3.5E-06 0.100 None 0 0
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1
Q99715 collagen type XII alpha 1 chain Receptor 93 0.615 0.692 0.97 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1
P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 84 0.647 0.462 1.8E-08 0.100 None 0 0
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
P28715 ERCC excision repair 5, endonuclease 238 0.499 0.731 2.7E-13 0.100 None 0 0
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
P21860 erb-b2 receptor tyrosine kinase 3 Kinase 318 0.448 0.808 1.7E-15 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 166 0.554 0.808 1.00 0.100 None 0 0