Source: CLINVAR ×
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: 9320
Gene Symbol: TRIP12
TRIP12 		Q14669 thyroid hormone receptor interactor 12 46 0.678 0.462 1.00 0.100 None 0 1
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A 		Q9HCS5 erythrocyte membrane protein band 4.1 like 4A 2 0.890 0.231 3.5E-21 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12 		Q9ULL5 proline rich 12 24 0.716 0.385 1.00 0.100 None 0 1
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		Q96EK4 THAP domain containing 11 11 0.769 0.346 0.83 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 36 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 77 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 11 0.513 0.846 1.1E-25 0.100 None 0 1
Entrez Id: 5393
Gene Symbol: EXOSC9
EXOSC9 		Q06265 exosome component 9 Enzyme 19 0.705 0.423 1.8E-11 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		Q13608 peroxisomal biogenesis factor 6 69 0.547 0.731 6.3E-06 0.100 None 0 2
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		O43511 solute carrier family 26 member 4 Transporter 9 0.507 0.885 9.0E-22 0.100 None 0 2
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		Q8N6M0 OTU deubiquitinase 6B Enzyme 25 0.659 0.538 1.3E-07 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 38 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS 		Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 45 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 23 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1 		Q00872 myosin binding protein C1 18 0.666 0.462 4.8E-05 0.100 None 0 1
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 23 0.471 0.808 7.0E-44 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		P53007 solute carrier family 25 member 1 Transporter 13 0.553 0.731 5.9E-02 0.100 None 0 1
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		Q3ZCQ8 translocase of inner mitochondrial membrane 50 14 0.678 0.500 1.8E-03 0.100 None 0 2
Entrez Id: 91949
Gene Symbol: COG7
COG7 		P83436 component of oligomeric golgi complex 7 10 0.686 0.500 2.6E-07 0.100 None 0 2
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 54 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 0 1
Entrez Id: 8036
Gene Symbol: SHOC2
SHOC2 		Q9UQ13 SHOC2 leucine rich repeat scaffold protein 12 0.593 0.769 1.00 0.100 None 0 1