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: 2201
Gene Symbol: FBN2
FBN2 		P35556 fibrillin 2 Calcium-binding protein 27 0.505 0.808 1.00 0.100 None 0 1
Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1 		Q9UNQ2 DIMT1 rRNA methyltransferase and ribosome maturation factor 17 0.760 0.385 3.9E-07 0.100 None 0 1
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A 		O00139 kinesin family member 2A Cellular structure 17 0.590 0.731 1.00 0.100 None 0 1
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: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		Q6Q0C0 TNF receptor associated factor 7 33 0.623 0.423 2.2E-02 0.100 None 0 1