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: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.400 None 1.000 1 0 2016 2016
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.300 None 1.000 1 0 2002 2002
Entrez Id: 4337
Gene Symbol: MOCS1
MOCS1
Q9NZB8 molybdenum cofactor synthesis 1 44 0.743 0.231 9.1E-07 0.100 None 0 0
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8
Q9NQV8 PR/SET domain 8 39 0.678 0.462 0.78 0.100 None 0 0
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
Q9GZU1 mucolipin 1 Ion channel 102 0.601 0.654 5.8E-04 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
P49792 RAN binding protein 2 Enzyme modulator 110 0.578 0.615 1.00 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 88 0.617 0.538 1.00 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
P82650 mitochondrial ribosomal protein S22 78 0.638 0.500 1.5E-05 0.100 None 0 0
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
Q5VIR6 VPS53 subunit of GARP complex 49 0.659 0.654 1.4E-07 0.100 None 0 0
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
O96007 O96033 molybdenum cofactor synthesis 2 39 0.729 0.308 4.6E-04 0.100 None 0 0
Entrez Id: 440
Gene Symbol: ASNS
ASNS
P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 90 0.595 0.692 9.4E-06 0.100 None 0 0
Entrez Id: 4990
Gene Symbol: SIX6
SIX6
O95475 SIX homeobox 6 Transcription factor 84 0.588 0.654 0.52 0.100 None 0 0
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 0
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
Q9NPG4 protocadherin 12 29 0.722 0.346 2.9E-13 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 0
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
Q9NXR1 nudE neurodevelopment protein 1 92 0.608 0.462 6.7E-03 0.100 None 0 0
Entrez Id: 549
Gene Symbol: AUH
AUH
Q13825 AU RNA binding methylglutaconyl-CoA hydratase Enzyme 42 0.686 0.346 8.0E-06 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: 64919
Gene Symbol: BCL11B
BCL11B
Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 123 0.568 0.731 0.99 0.100 None 0 0
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
P43007 solute carrier family 1 member 4 Transporter 40 0.700 0.385 6.6E-02 0.100 None 0 0
Entrez Id: 79709
Gene Symbol: COLGALT1
COLGALT1
Q8NBJ5 collagen beta(1-O)galactosyltransferase 1 Enzyme 17 0.760 0.346 5.9E-08 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Q13057 Coenzyme A synthase Enzyme 125 0.551 0.654 8.1E-10 0.100 None 0 0