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: 2517
Gene Symbol: FUCA1
FUCA1
P04066 alpha-L-fucosidase 1 103 0.623 0.577 2.7E-08 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 1
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.100 None 0 2
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 2
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9
Q06265 exosome component 9 Enzyme 55 0.705 0.423 1.8E-11 0.100 None 0 1
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 1
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: 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: 56052
Gene Symbol: ALG1
ALG1
Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 95 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 77 0.656 0.423 1.6E-08 0.100 None 0 2
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
Q14938 nuclear factor I X Nucleic acid binding 183 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
Q8WXX7 activator of transcription and developmental regulator AUTS2 149 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
Q8N2C7 unc-80 homolog, NALCN channel complex subunit 111 0.626 0.462 5.2E-02 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 177 0.556 0.808 1.00 0.100 None 0 1
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Q99797 mitochondrial intermediate peptidase Enzyme 69 0.666 0.615 1.6E-15 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
Q9H8P0 steroid 5 alpha-reductase 3 99 0.604 0.692 2.5E-04 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
Q00872 myosin binding protein C1 51 0.666 0.462 4.8E-05 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11
Q96EK4 THAP domain containing 11 23 0.769 0.346 0.83 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 136 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B
Q93097 Wnt family member 2B Signaling 65 0.644 0.615 3.8E-02 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
Q86W42 THO complex 6 31 0.705 0.577 4.8E-04 0.100 None 0 2