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: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B 		Q96K49 transmembrane protein 87B 10 0.861 0.115 3.7E-13 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 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: 6786
Gene Symbol: STIM1
STIM1 		Q13586 stromal interaction molecule 1 27 0.501 0.808 0.78 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 47 0.650 0.654 2.1E-15 0.100 None 0 1