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: 4576
Gene Symbol: TRNT
TRNT 		tRNA 14 0.729 0.538 0.100 None 1.000 4 1 1993 2018
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 65 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		Q8TD16 BICD cargo adaptor 2 28 0.615 0.731 0.98 0.100 None 0 1
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 14 0.638 0.577 9.8E-13 0.100 None 0 2
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 18 0.682 0.423 1.00 0.100 None 0 1
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 41 0.436 0.885 2.0E-36 0.100 None 0 2
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 20 0.631 0.577 1.00 0.100 None 0 1
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1 		O75352 mannose-P-dolichol utilization defect 1 16 0.682 0.500 1.0E-05 0.100 None 0 1