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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
GLI family zinc finger 1 0.431 0.846 7.7E-14
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1
galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 1
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
glucuronidase beta 0.530 0.846 4.0E-08
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5
fibulin 5 0.546 0.692 1.00
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 274
Gene Symbol: BIN1
BIN1
bridging integrator 1 0.550 0.692 0.78
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 2563
Gene Symbol: GABRD
GABRD
gamma-aminobutyric acid type A receptor subunit delta 0.558 0.692 0.99
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 3423
Gene Symbol: IDS
IDS
iduronate 2-sulfatase 0.559 0.769 0.95
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0