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: 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: 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: 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: 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: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 22 0.471 0.846 0.99 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
Entrez Id: 80232
Gene Symbol: WDR26
WDR26 		Q9H7D7 WD repeat domain 26 7 0.606 0.769 1.00 0.100 None 0 2
Entrez Id: 80152
Gene Symbol: CENPT
CENPT 		Q96BT3 centromere protein T 11 0.821 0.231 5.8E-06 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		Q9H8P0 steroid 5 alpha-reductase 3 41 0.604 0.692 2.5E-04 0.100 None 0 1
Entrez Id: 79228
Gene Symbol: THOC6
THOC6 		Q86W42 THO complex 6 14 0.705 0.577 4.8E-04 0.100 None 0 2
Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B 		Q93097 Wnt family member 2B Signaling 6 0.644 0.615 3.8E-02 0.100 None 0 1
Entrez Id: 7019
Gene Symbol: TFAM
TFAM 		Q00059 transcription factor A, mitochondrial 14 0.529 0.731 0.17 0.100 None 0 1
Entrez Id: 6942
Gene Symbol: TCF20
TCF20 		Q9UGU0 transcription factor 20 Transcription factor 18 0.644 0.423 1.00 0.100 None 0 1
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		P42224 signal transducer and activator of transcription 1 Nucleic acid binding 29 0.399 0.885 1.00 0.100 None 0 1
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 12 0.545 0.769 1.00 0.100 None 0 1
Entrez Id: 6603
Gene Symbol: SMARCD2
SMARCD2 		Q92925 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Nucleic acid binding 7 0.700 0.385 6.5E-05 0.100 None 0 3
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: 5393
Gene Symbol: EXOSC9
EXOSC9 		Q06265 exosome component 9 Enzyme 19 0.705 0.423 1.8E-11 0.100 None 0 1