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: 23059
Gene Symbol: CLUAP1
CLUAP1 		Q96AJ1 clusterin associated protein 1 6 0.805 0.231 4.2E-04 0.100 None 1.000 1 2 2017 2017
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		Q8WU66 thrombospondin type laminin G domain and EAR repeats 15 0.736 0.385 2.4E-17 0.100 None 1.000 1 2 2016 2016
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		TSPEAR antisense RNA 1 15 0.821 0.269 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		Q02388 collagen type VII alpha 1 chain Receptor 38 0.545 0.808 2.4E-40 0.100 None 0 2
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 0 1
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 15 0.527 0.769 1.00 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 23 0.674 0.538 5.5E-15 0.100 None 0 2
Entrez Id: 4810
Gene Symbol: NHS
NHS 		Q6T4R5 NHS actin remodeling regulator 8 0.466 0.846 1.00 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 44 0.544 0.615 1.00 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 39 0.561 0.808 1.00 0.100 None 0 1
Entrez Id: 23314
Gene Symbol: SATB2
SATB2 		Q9UPW6 SATB homeobox 2 Transcription factor 24 0.503 0.769 1.00 0.100 None 0 1
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1 		Q9UMD9 collagen type XVII alpha 1 chain 18 0.545 0.769 2.3E-27 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