Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 124997
Gene Symbol: WDR81
WDR81 		WD repeat domain 81 0.670 0.462 6.7E-08
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1
Entrez Id: 4577
Gene Symbol: TRNV
TRNV 		tRNA 0.670 0.423
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1
Entrez Id: 54908
Gene Symbol: SPDL1
SPDL1 		spindle apparatus coiled-coil protein 1 8.6E-17
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C 		FAM20C golgi associated secretory pathway kinase 0.578 0.731 0.31
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15 		thioredoxin domain containing 15 0.736 0.615 9.6E-03
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 2
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1
Entrez Id: 84892
Gene Symbol: POMGNT2
POMGNT2 		protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 0.628 0.500 5.6E-06
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		KIAA0586 0.565 0.731 5.1E-16
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		phenotype 0.100 None 0 1