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: 7048
Gene Symbol: TGFBR2
TGFBR2 		P37173 transforming growth factor beta receptor 2 Kinase 18 0.413 0.846 0.13 0.100 None 1.000 1 1 2017 2017
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 48 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		P02452 collagen type I alpha 1 chain 54 0.430 0.808 1.00 0.100 None 0 4
Entrez Id: 25839
Gene Symbol: COG4
COG4 		Q9H9E3 component of oligomeric golgi complex 4 32 0.631 0.615 4.0E-09 0.100 None 0 1
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		P50148 G protein subunit alpha q Enzyme modulator 43 0.516 0.808 0.98 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 2
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		P32322 pyrroline-5-carboxylate reductase 1 16 0.570 0.654 2.0E-04 0.100 None 0 1
Entrez Id: 7471
Gene Symbol: WNT1
WNT1 		P04628 Wnt family member 1 Signaling 5 0.495 0.769 0.33 0.100 None 0 1
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1 		Q96BA8 cAMP responsive element binding protein 3 like 1 6 0.601 0.615 0.98 0.100 None 0 1