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: 2538
Gene Symbol: G6PC
G6PC
glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
unc-80 homolog, NALCN channel complex subunit 0.626 0.462 5.2E-02
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype 0.100 None 0 1
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
solute carrier family 2 member 2 0.572 0.692 3.4E-08
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype 0.100 None 0 1
Entrez Id: 7454
Gene Symbol: WAS
WAS
WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype 0.100 None 0 1
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 1
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 3
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 1
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 1
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 1
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
serpin family G member 1 0.507 0.769 0.96
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.150 None 1.000 0 1 1995 2015
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 2
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.800 None 0.982 10 13 1985 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 46 1 1988 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 36 1 1989 2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 34 2 1967 2017
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 30 1 1996 2018
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 30 1 1993 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 29 2 1986 2016
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 28 2 1988 2016
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 27 1 1988 2017
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.100 None 1.000 26 1 1997 2017