Source: RGD

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: 10891
Gene Symbol: PPARGC1A
PPARGC1A
PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease 0.200 None 0 0
Entrez Id: 4583
Gene Symbol: MUC2
MUC2
mucin 2, oligomeric mucus/gel-forming 0.486 0.808 9.4E-10
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis
disease 0.200 None 0 0
Entrez Id: 6372
Gene Symbol: CXCL6
CXCL6
C-X-C motif chemokine ligand 6 0.582 0.692 2.7E-09
CUI: C0033581
Disease: prostatitis
prostatitis
disease 0.200 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 None 0.982 1 0 1953 2020
Entrez Id: 790
Gene Symbol: CAD
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 0.482 0.846 1.00
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental
phenotype 0.200 None 1.000 1 0 1959 1959
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
CUI: C0028754
Disease: Obesity
Obesity
disease 0.700 None 0.930 4 0 1966 2019
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease 0.700 None 1.000 2 0 1966 2019
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.600 None 0.975 1 0 1966 2019
Entrez Id: 4519
Gene Symbol: CYTB
CYTB
cytochrome b 0.529 0.808
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency
disease 0.200 None 1.000 1 0 1966 1966
Entrez Id: 790
Gene Symbol: CAD
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 0.482 0.846 1.00
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype 0.200 None 1.000 1 0 1967 1967
Entrez Id: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease 1.000 None 0.982 1 0 1968 2019
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.691 0.462 2.6E-06
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease 0.200 None 1.000 1 0 1968 1968
Entrez Id: 5328
Gene Symbol: PLAU
PLAU
plasminogen activator, urokinase 0.425 0.923 2.3E-06
CUI: C0040053
Disease: Thrombosis
Thrombosis
phenotype 0.500 None 1.000 1 0 1969 2010
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 None 0.966 1 0 1970 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
disease 0.600 None 0.955 1 0 1970 2019
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
kininogen 1 0.481 0.885 3.2E-10
CUI: C0023518
Disease: Leukocytosis
Leukocytosis
phenotype 0.200 None 1.000 1 0 1971 1971
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0028754
Disease: Obesity
Obesity
disease 0.700 None 0.952 5 0 1973 2020
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
Autosomal Recessive Polycystic Kidney Disease
disease 1.000 None 1.000 2 0 1975 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
parathyroid hormone 0.397 0.846 1.2E-02
CUI: C0020503
Disease: Hyperparathyroidism, Secondary
Hyperparathyroidism, Secondary
disease 0.600 None 0.965 2 0 1975 2020
Entrez Id: 1621
Gene Symbol: DBH
DBH
dopamine beta-hydroxylase 0.511 0.846 3.3E-10
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group 0.250 None 0.833 1 0 1975 2019
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0041948
Disease: Uremia
Uremia
disease 0.200 None 1.000 1 0 1975 1975
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
Diabetes Mellitus, Insulin-Dependent
disease 0.290 None 1.000 1 0 1975 2018
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF
cobalamin binding intrinsic factor 0.507 0.808 2.5E-04
CUI: C0017152
Disease: Gastritis
Gastritis
disease 0.240 None 1.000 1 0 1975 2019
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype 0.600 None 0.988 1 0 1975 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.977 1 0 1975 2020