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: 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: 132884
Gene Symbol: EVC2
EVC2
EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
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: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
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: 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: 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: 2588
Gene Symbol: GALNS
GALNS
galactosamine (N-acetyl)-6-sulfatase 0.560 0.808 3.0E-10
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: 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: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
dynein cytoplasmic 2 light intermediate chain 1 0.601 0.500 3.2E-09
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.595 0.692 7.0E-09
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: 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: 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: 1776
Gene Symbol: DNASE1L3
DNASE1L3
deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3
transmembrane O-mannosyltransferase targeting cadherins 3 0.636 0.538 4.6E-05
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: 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: 7469
Gene Symbol: NELFA
NELFA
negative elongation factor complex member A 0.619 0.615 0.13
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8
potassium inwardly rectifying channel subfamily J member 8 0.619 0.538 0.38
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: 8514
Gene Symbol: KCNAB2
KCNAB2
potassium voltage-gated channel subfamily A regulatory beta subunit 2 0.593 0.692 0.80
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology
phenotype 0.100 None 0 0