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Homocystinuria-Megaloblastic anemia due to defect in
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Homocystinuria-Megaloblastic Anemia due to Defect in
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response to
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Defects in
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regulation
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Defects in
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regulation
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Disorders
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COBALAMIN Gene Setinteracting proteins for the COBALAMIN drug from theDGIdb Drug Targets 2026 dataset. |
factor v
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antithrombin iii
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activated protein c resistance; antithrombin iii
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Neuraminidase
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MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c
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blood coagulation disorders, inherited; protein c
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blood coagulation disorders; protein c
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anemia, iron-
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folic acid
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activated protein c resistance; blood coagulation disorders; liver diseases; protein c
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anemia, iron-
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choline
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folic acid
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anemia, iron-
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anemia, iron-
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protein c
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folic acid
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anemia, iron-
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neoplasms; protein c
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anemia, iron-
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chronic renal failure; folic acid
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Defective GSS causes Glutathione synthetase
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Defective CYP11B2 causes Corticosterone methyloxidase 1
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Defective TPMT causes Thiopurine S-methyltransferase
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Defective HK1 causes hexokinase
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Sulfite oxidase
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Trifunctional protein
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Bifunctional peroxisomal enzyme
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X-linked ichthyosis with steryl-sulfatase
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Phosphoglycerate dehydrogenase
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Galactosylceramide beta-galactosidase
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Isolated 17,20-lyase
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Endplate acetylcholinesterase
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Sepiapterin reductase
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Methionine adenosyltransferase
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Pyruvate dehydrogenase E2
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Carbonic anhydrase va
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10
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Kininogen
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6-pyruvoyl-tetrahydropterin synthase
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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N-terminal acetyltransferase
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Complement component 7
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Creatine
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Birbeck granule
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Glucocorticoid
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Glucocorticoid
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SCID due to ADA
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Properdin
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PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor d
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Thrombophilia due to protein S
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Hypermethioninemia with s-adenosylhomocysteine hydrolase
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Methylmalonyl-CoA epimerase
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Complement component 8
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Testosterone 17-beta-dehydrogenase
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Acyl-CoA dehydrogenase family, member 9,
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Glutathione synthetase
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Autoinflammation, antibody
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Cerebral folate
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Phosphoserine aminotransferase
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Severe combined immuno
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Carnitine acylcarnitine translocase
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Partial hypoxanthine-guanine phosphoribosyltransferase
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Succinyl-CoA acetoacetate transferase
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Carnitine palmitoyltransferase I
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Mitochondrial complex I
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Gamma-glutamylcysteine synthetase
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HNSHA due to aldolase A
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Platelet-activating factor acetylhydrolase
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Hereditary C1 esterase inhibitor
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Lipase
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5-Oxoprolinase
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Glucocorticoid
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Proopiomelanocortin
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Pituitary hormone
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Intrinsic factor
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21-hydroxylase
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Glutaryl-CoA oxidase
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Nuclearly-encoded mitochondrial complex V (ATP synthase)
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Nuclearly-encoded mitochondrial complex V (ATP synthase)
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Corticosterone methyloxidase type 1
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Thiopurine methyltransferase
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METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II
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Lactate dehydrogenase b
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Plasminogen
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Molybdenum c
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Molybdenum c
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Molybdenum c
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Biotinidase
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Autosomal dominant isolated somatotropin
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Hypohidrotic ectodermal dysplasia with immune
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Isolated growth hormone
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Anhidrotic ectodermal dysplasia with immune
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Complete combined 17-alpha-hydroxylase/17,20-lyase
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3 Methylcrotonyl-CoA carboxylase 1
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Sulfite oxidase
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Plasminogen activator inhibitor type 1
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Pyruvate dehydrogenase phosphatase
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Combined oxidative phosphorylation
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Monoamine oxidase A
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Factor V
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Thrombophilia, hereditary, due to protein C
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Adenine phosphoribosyltransferase
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Ehlers-Danlos-like syndrome due to tenascin-X
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Glutamate formiminotransferase
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Hypoglycemia with
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LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Follicle-stimulating hormone
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Ganglioside sialidase
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C1q
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Interferon gamma receptor
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Platelet glycoprotein IV
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N-acetylaspartate
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Adenylosuccinate lyase
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Triosephosphate isomerase
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Gaucher disease, atypical, due to saposin C
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Disordered steroidogenesis due to cytochrome p450 oxidoreductase
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Aromatase
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Hereditary factor II
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Mitochondrial complex III
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Factor xiii, a subunit,
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Mitochondrial complex III
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Mitochondrial complex III
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3-methylcrotonyl CoA carboxylase 2
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Hemolytic anemia due to hexokinase
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Leigh syndrome due to mitochondrial complex I
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Multiple sulfatase
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Corticosteroid-binding globulin
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Combined oxidative phosphorylation
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Corticosterone methyloxidase type 2
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CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 9
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Holocarboxylase synthetase
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2,4-Dienoyl-CoA reductase
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LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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Ataxia with vitamin E
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MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
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ACTH
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PROPERDIN DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carboxylesterase 1
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Purine-nucleoside phosphorylase
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Neonatal intrahepatic cholestasis caused by citrin
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Complement component 6
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Antithrombin III
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Inosine triphosphatase
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Growth hormone
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Pyruvate dehydrogenase lipoic acid synthetase
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Ulna and fibula absence
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Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte
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Homocysteinemia due to MTHFR
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Immuno
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Sarcosine dehydrogenase
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Factor v and factor viii, combined
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Branched-chain ketoacid dehydrogenase kinase
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L-ferritin
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Medium-chain acyl-coenzyme A dehydrogenase
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Pseudoxanthoma elasticum-like disorder with multiple coagulation factor
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Arginase
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Hepatic lipase
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Factor X
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mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase
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Hypercarotenemia and vitamin a
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Pyruvate dehydrogenase E3-binding protein
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Hereditary factor IX
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Alpha-fetoprotein
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Hypermethioninemia due to adenosine kinase
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Vitamin k-dependent clotting factors, combined
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Glycosylphosphatidylinositol
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Vitamin k-dependent clotting factors, combined
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Leukocyte adhesion
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Congenital lactase
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Caspase-8
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Uridine 5-prime monophosphate hydrolase
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Phosphoglycerate kinase 1
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Anaphylotoxin inactivator
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3-Oxo-5 alpha-steroid delta 4-dehydrogenase
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Cytochrome-c oxidase
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Enterokinase
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Coenzyme Q10
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Coenzyme Q10
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Coenzyme Q10
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Coenzyme Q10
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Erythrocyte amp deaminase
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Factor VII
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Autosomal dominant CD11C+/CD1C+ dendritic cell
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Apolipoprotein a-i
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Glut1
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Gamma-aminobutyric acid transaminase
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Myeloperoxidase
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Mitochondrial phosphate carrier
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Hereditary factor XI
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Porphobilinogen synthase
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Very long chain acyl-CoA dehydrogenase
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IRAK4
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Leukocyte adhesion
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Muscular dystrophy, congenital, due to ITGA7
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MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortisone reductase
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Arginine:glycine amidinotransferase
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Pyruvate kinase
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Methionine adenosyltransferase
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Muscle AMP deaminase
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Dihydropyrimidinase
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Dimethylglycine dehydrogenase
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Monocyte and dendritic cell
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Pyruvate dehydrogenase E1-alpha
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Isovaleryl-CoA dehydrogenase
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Cd59
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Ornithine aminotransferase
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Sphingolipid activator protein 1
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Combined partial 17-alpha-hydroxylase/17,20-lyase
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Lysosomal acid lipase
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Dopamine beta hydroxylase
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Butyrylcholinesterase
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UDPglucose-4-epimerase
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Homocystinuria due to MTHFR
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Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase
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Insulin-like growth factor I
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Leigh syndrome due to mitochondrial complex II
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Pituitary hormone
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Pituitary hormone
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Pituitary hormone
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Pituitary hormone
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Complement component 4, partial
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Pyruvate carboxylase
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Gluthathione synthetase
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Fumarase
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Mitochondrial pyruvate carrier
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Pyruvate dehydrogenase E1-beta
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MASP2
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Argininosuccinate lyase
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Prekallikrein
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Chitotriosidase
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4-Alpha-hydroxyphenylpyruvate hydroxylase
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Anti-plasmin
|
Prothrombin
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Mitochondrial trifunctional protein
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GTP cyclohydrolase I
|
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3 beta-Hydroxysteroid dehydrogenase
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Succinate-semialdehyde dehydrogenase
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X-linked agammaglobulinemia with growth hormone
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Okt4 epitope
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Mitochondrial complex II
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Mineralocorticoid
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Complement 1s
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Dihydropteridine reductase
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Mannose-binding protein
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Glucose transporter type 1
|
Myasthenic syndrome, congenital, associated with acetylcholine receptor
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Myd88
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Cd8
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Congenital muscular dystrophy due to partial LAMA2
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Acid-labile subunit
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Fructose-biphosphatase
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Megaloblastic anemia due to dihydr
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Complement factor B
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Obesity, severe, due to leptin
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Beta-hydroxyisobutyryl-CoA deacylase
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Hereditary factor VIII
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Proline dehydrogenase
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Factor H
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Glutamine
|
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Glycine N-methyltransferase
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Ornithine carbamoyltransferase
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Sucrase-isomaltase
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Cholesterol monooxygenase (side-chain cleaving)
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Fucosyltransferase 6
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Asparagine synthetase
|
Adenylate kinase
|
Pituitary hormone
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Pituitary hormone
|
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Thrombophilia, hereditary, due to protein C
|
Protein S
|
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Urocanate hydratase
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4-Hydroxyphenylpyruvate dioxygenase
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Combined
|
Factor xiii, b subunit,
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Growth
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Hyperphenylalaninemia, bh4-deficient, a, due to partial pts
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Combined
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Prolidase
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MYD88
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Carnitine Palmitoyltransferase II
|
Anemia, Iron-
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Congenital adrenal hyperplasia due to 21 hydroxylase
|
Platelet Glycoprotein IV
|
Mitochondrial Phosphate Carrier
|
Leukocyte Adhesion
|
Prekallikrein
|
Methylenetetrahydr
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6-pyruvoyl-tetrahydropterin synthase
|
Factor XI
|
Carnitine palmitoyl transferase 1A
|
Preaxial
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THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I
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Tyrosine Kinase 2
|
Properdin
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COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset. |
Glutathione synthetase
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Glucocorticoid
|
Aniridia cerebellar ataxia mental
|
Combined Oxidative Phosphorylation
|
Proopiomelanocortin
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HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase
|
Glucocorticoid
|
Intrinsic Factor
|
Adenosine monophosphate deaminase
|
alpha 1-Antitrypsin
|
Combined Oxidative Phosphorylation
|
Plasminogen
|
IgA
|
Lipase
|
Glutathione Synthetase
|
DNA Repair-
|
Congenital thrombotic disease, due to Protein C
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Enterokinase
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Carnitine Palmitoyltransferase II
|
Lactase
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Lecithin Acyltransferase
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Interleukin 2 Receptor, Alpha,
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ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset. |
Beta ketothiolase
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Transaldolase
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Anti-plasmin
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Succinyl-CoA:3-oxoacid CoA transferase
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CD8
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Neuraminidase 1
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Folic Acid
|
Lysosomal acid lipase
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Adenylate Kinase
|
Vitamin B 12
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Isolated Growth Hormone
|
Neurodegeneration Due To Cerebral Folate Transport
|
Familial HDL
|
Carnitine-Acylcarnitine Translocase
|
Trifunctional Protein
|
Methyl
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Flaujeac factor
|
Ribose 5-Phosphate Isomerase
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Pyruvate dehydrogenase phosphatase
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VLCAD
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18-Hydroxylase
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Creatine
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Mitochondrial Complex III
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PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
dopamine beta hydroxylase
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Ehlers-Danlos syndrome caused by tenascin-X
|
Growth mental
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Split-Hand/Foot Malformation With Long Bone
|
Ornithine Carbamoyltransferase
|
Protein
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Factor 8
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3-methylcrotonyl CoA carboxylase 2
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COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset. |
Adenylosuccinate lyase
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THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Acyl-CoA Dehydrogenase Family, Member 9,
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Thiopurine S methyltranferase
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Muscular Dystrophy, Congenital, Due To Integrin Alpha-7
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3-Hydroxyacyl-CoA Dehydrogenase
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3-Hydroxy-3-Methylglutaryl-CoA Synthase 2
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Isolated Growth Hormone
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Vitamin A
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Molybdenum c
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Split-Hand/Foot Malformation With Long Bone
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Phosphoglycerate Kinase 1
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COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Severe combined immuno
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Multiple Acyl Coenzyme A Dehydrogenase
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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Activator Inhibitor-1
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Pyruvate Dehydrogenase E2
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Phosphoglycerate Dehydrogenase
|
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase
|
Vitamin D
|
Factor V
|
Uridine 5-Prime Monophosphate Hydrolase
|
Pyruvate Dehydrogenase Complex
|
Ataxia with vitamin E
|
Aromatic amino acid decarboxylase
|
Factor X
|
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Holocarboxylase Synthetase
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N-acetyl glutamate synthetase
|
Vitamin K-Dependent Clotting Factors, Combined
|
Dimethylglycine Dehydrogenase
|
Pituitary Hormone
|
Pituitary Hormone
|
Trehalase
|
Guanidinoacetate methyltransferase
|
Aminoacylase 1
|
Antithrombin III
|
Phosphoenolpyruvate carboxykinase
|
17-Hydroxysteroid Dehydrogenase
|
Heparin C
|
Hydroxyacyl-CoA Dehydrogenase, Type 2,
|
D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
Arginine:Glycine Amidinotransferase
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Biotinidase
|
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Methionine Adenosyltransferase
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Phosphoenolpyruvate carboxykinase 2
|
Glycine N-Methyltransferase
|
Krabbe Disease, Atypical, due to Saposin A
|
Magnesium
|
2-Methylbutyryl-CoA Dehydrogenase
|
Glycosylphosphatidylinositol
|
Factor Xiii, A Subunit,
|
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor
|
Leukocyte adhesion
|
Isobutyryl-CoA dehydrogenase
|
Dihydropyrimidine Dehydrogenase
|
Corticosteroid-Binding Globulin
|
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase
|
ACTH
|
Factor XIII, B Subunit,
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Gaucher Disease, Atypical, Due To Saposin C
|
GLUT1 DEFICIENCY SYNDROME 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset. |
Iron-Refractory Iron
|
Gamma-Glutamylcysteine Synthetase
|
Specific Granule
|
Insulin-Like Growth Factor I
|
Complement component 5
|
Complement Component 7
|
Lactate dehydrogenase
|
Pyruvate Dehydrogenase E3-Binding Protein
|
Hypogammaglobulinemia and Isolated growth hormone
|
Cortisone reductase
|
Peroxisomal ACYL-COA oxidase
|
NADH cytochrome B5 reductase
|
3b-Hydroxysteroid Dehydrogenase
|
Thiamine
|
Mitochondrial Complex II
|
Sucrase-isomaltase
|
Systemic carnitine
|
Gamma-cystathionase
|
Pituitary Hormone
|
Combined Saposin
|
Radial Ray
|
Beta-Ureidopropionase
|
Combined Oxidative Phosphorylation
|
Combined Oxidative Phosphorylation
|
Combined Oxidative Phosphorylation
|
Protein C
|
Pyridoxamine 5-Prime-Phosphate Oxidase
|
succinic semialdehyde dehydrogenase
|
Carboxypeptidase N
|
Purine Nucleoside Phosphorylase
|
Complement Component 4, Partial
|
Familial Glucocorticoid
|
Endplate Acetylcholinesterase
|
Factor XIII
|
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset. |
Fructose-1,6-Diphosphatase
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MASP2
|
2,4-Dienoyl-CoA Reductase
|
Alpha-ketoglutarate dehydrogenase
|
Complement Factor H
|
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 2 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
TRANSCOBALAMIN II DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Prolidase
|
Leukocyte-Adhesion
|
Dihydropyrimidinase
|
|
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Vitamin E
|
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II
|
3-Hydroxy-3-Methylglutaryl-CoA Lyase
|
CD59
|
Myeloperoxidase
|
Methylmalonyl-CoA Epimerase
|
Mevalonate Kinase
|
Complement Factor I
|
Beta-Hydroxyisobutyryl CoA Deacylase
|
Cytochrome-c Oxidase
|
Hyaluronidase
|
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase
|
Hypercarotenemia And Vitamin A
|
3-methylcrotonyl CoA carboxylase 1
|
Multiple Sulfatase
|
Lysosomal beta-mannosidase
|
Medium chain acyl CoA dehydrogenase
|
Familial apoceruloplasmin
|
Metachromatic Leukodystrophy due to Saposin B
|
Glutamine
|
Sulfite oxidase
|
Pyruvate Kinase
|
Factor VII
|
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
IRAK4
|
Butyrylcholinesterase
|
Short chain Acyl CoA dehydrogenase
|
Gamma aminobutyric acid transaminase
|
Pyruvate Carboxylase
|
Complement Component 6
|
Glutamate formiminotransferase
|
Factor XII
|
Aromatase
|
Urocanase
|
Phosphoserine Aminotransferase
|
Ectodermal dysplasia, hypohidrotic, with immune
|
Immunoglobulin a
|
Immunoglobulin a
|
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Glucosephosphate Dehydrogenase
|
Mitochondrial complex I
|
Follicle-stimulating hormone
|
Split-hand/foot malformation with long bone
|
Immunologic
|
protein s
|
systemic primary carnitine
|
purine nucleoside phosphorylase
|
alpha 1-antitrypsin
|
holocarboxylase synthetase
|
gamma chain
|
pyruvate decarboxylase
|
serine
|
cerebral creatine
|
complement
|
agat
|
prothrombin
|
complement factor i
|
glucosephosphate dehydrogenase
|
protein c
|
dihydropyrimidine dehydrogenase
|
biotinidase
|
beta-ketothiolase
|
ornithine carbamoyltransferase
|
factor v
|
ornithine translocase
|
cd40 ligand
|
b cell
|
3-methylcrotonyl-coa carboxylase
|
phgdh
|
succinic semialdehyde dehydrogenase
|
adenosine deaminase
|
antithrombin iii
|
cytochrome-c oxidase
|
familial lipoprotein lipase
|
multiple carboxylase
|
iron
|
nutritional
|
choline
|
mhc class ii
|
t lymphocyte
|
leukocyte-adhesion
|
familial lipoprotein lipase
|
complement
|
urethral intrinsic sphincter
|
congenital intrinsic factor
|
folic acid
|
fructose-1,6-bisphosphatase
|
coenzyme q10
|
pyruvate decarboxylase
|
psat
|
carbamoyl phosphate synthetase i
|
leukocyte adhesion
|
adenosine deaminase
|
antithrombin iii
|
factor xiii
|
b cell linker protein
|
|
cd3delta
|
iron
|
protein s
|
gamma chain
|
immunoglobulin alpha
|
intestinal disaccharidase
|
artemis
|
cd40
|
agat
|
dna ligase iv
|
cd45
|
factor viii
|
cd3zeta
|
factor vii
|
selective igg
|
factor xii
|
cd40 ligand
|
serine
|
interleukin-7 receptor alpha
|
cd3gamma
|
vitamin b12
|
multiple carboxylase
|
nutritional
|
cerebral creatine
|
factor xi
|
coronin-1a
|
3-methylcrotonyl-coa carboxylase
|
factor x
|
systemic primary carnitine
|
purine nucleoside phosphorylase
|
c1 inhibitor
|
prothrombin
|
holocarboxylase synthetase
|
selective iga
|
pyridoxine
|
biotinidase
|
ornithine translocase
|
rh
|
beta-ketothiolase
|
platelet storage pool
|
succinic semialdehyde dehydrogenase
|
cd3epsilon
|
mhc class i
|
recombinase activating gene 1
|
t cell
|
alpha 1-antitrypsin
|
psph
|
complement factor i
|
glucosephosphate dehydrogenase
|
protein c
|
dihydropyrimidine dehydrogenase
|
complement component 5
|
ornithine carbamoyltransferase
|
factor v
|
b cell
|
protein-
|
selective immunoglobulin
|
c3
|
galactokinase
|
vitamin k
|
ahg
|
alpha 1-antitrypsin
|
glucosephosphate dehydrogenase
|
adenoma; adenomatous polyps; colonic polyps; colorectal neoplasms; hyperplasia; magnesium
|
g6pd
|
iga
|
thromboembolism; venous thrombosis; vitamin b
|
alpha-thalassemia; anemia; glucosephosphate dehydrogenase
|
alpha 1-antitrypsin
|
free protein s (type iia)
|
alpha 1-antitrypsin
|
alpha 1-antitrypsin
|
alpha 1-antitrypsin
|
tetrahydrobiopterin (bh4)
|
adenoma; colorectal neoplasms; folic acid
|
|
alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase
|
end-plate acetylcholinesterase
|
protein s
|
cytochrome-c oxidase
|
hypertrophic cardiomyopathy and cytochrome c oxidase
|
birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d
|
leigh syndrome and cytochrome c oxidase
|
common variable immuno
|
airway obstruction; alpha 1-antitrypsin
|
medium-chain acyl-coa dehydrogenase
|
alpha(1) antitrypsin
|
anemia, iron
|
alpha 1-antitrypsin
|
disorder
|
ornithine carbamoyltransferase
|
c2-
|
medium-chain acyl-coa dehydrogenase (mcad)
|
eclampsia; factor v
|
vitamin b 12
|
folic acid
|
f12 plasma
|
ahg
|
magnesium
|
phenylalanine hydroxylase
|
methylenetetrahydr
|
diabetes, gestational; vitamin d
|
isolated gh
|
sickle cell anemia; g6pd
|
acid lipase
|
phenylalanine hydroxylase (pah)
|
|
celiac disease; iga
|
congenital heart defects; folic acid
|
protein
|
glucosephosphate dehydrogenase
|
anemia, iron
|
limb
|
tinosine triphosphate pyrophosphohydrolase;
|
alcoholic neuropathy; alcoholism; folic acid
|
alpha 1-antitrypsin
|
activated protein c resistance; protein s
|
protein s
|
hyperlipidemias; yin
|
alpha 1-antitrypsin
|
factor xii
|
fatal surfactant
|
alpha 1-antitrypsin
|
hyperhomocysteinemia; phenylketonurias; vitamin b
|
alpha 1-antitrypsin
|
alpha thalassemia; alpha-thalassemia; anemia, sickle cell; glucosephosphate dehydrogenase
|
hypolipoproteinemias; lipoprotein;
|
coronary artery disease; folic acid
|
anemia; gastritis, atrophic; nervous system diseases; vitamin b 12
|
congenital intrinsic factor
|
liver glycogenosis caused by phk
|
beta thalassemia; beta-thalassemia; glucosephosphate dehydrogenase
|
factor vii
|
antithrombin iii
|
mevalonate kinase
|
bronchiectasis; immunologic
|
galactokinase
|
lcat
|
ahg
|
encephalitis; glucosephosphate dehydrogenase
|
anencephaly; folic acid
|
ahg
|
choline
|
autoimmune diseases; iga
|
cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase
|
ahg
|
anemia, iron-
|
c7
|
glucosephosphate dehydrogenase
|
erythrocyte band 4.2
|
cardiovascular diseases; folic acid
|
anemia, iron-
|
pyrimidine 5' nucleotidase-i
|
alpha 1-antitrypsin indicate a single origin for
|
factor xi
|
ascorbic acid
|
choline
|
glucosephosphate dehydrogenase
|
alphal-antitrypsin
|
growth hormone
|
protein s
|
kidney diseases; vitamin a
|
anemia, sickle cell; glucosephosphate dehydrogenase
|
congenital haptoglobin
|
esophageal neoplasms; folic acid
|
familial glucocorticoid
|
heterozygous factor xi
|
alpha-thalassemia; beta-thalassemia; glucosephosphate dehydrogenase
|
antithrombin iii
|
heritable lipolytic
|
dihydropyrimidine dehydrogenase
|
ahg
|
ahg
|
21-hydroxylase
|
anemia, iron-
|
cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/copd; 21-hydroxylase
|
factor vii
|
alpha-thalassemia; glucosephosphate dehydrogenase
|
acyl-coa dehydrogenase (scad)
|
citrin
|
bone resorption; vitamin k
|
alpha 1-antitrypsin
|
favism; glucosephosphate dehydrogenase
|
alpha 1-antitrypsin
|
growth hormone-
|
activated protein c resistance; factor v
|
alpha 1-antitrypsin
|
serum alpha 1-antitrypsin
|
alpha 1-antitrypsin
|
glucosephosphate dehydrogenase
|
methionine adenosyltransferase i/iii
|
glucosephosphate dehydrogenase
|
chromosomal instability; immunologic
|
glucosephosphate dehydrogenase
|
birth weight; vitamin d
|
biotinidase
|
anemia, iron-
|
glucocorticoid
|
coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d
|
generalized epimerase-
|
factor v
|
alpha 1-antitrypsin
|
hereditary protein c
|
immune
|
alzheimer disease; alzheimer's disease; cardiovascular diseases; vitamin b 12
|
chronic ulcerative colitis; colitis, ulcerative; folic acid
|
factor v
|
hyperhomocysteinemia; vascular diseases; vitamin b 12
|
factor v
|
iga
|
ahg
|
protein c
|
norepinephrine-transporter
|
factor vii
|
iron
|
leukocyte adhesion
|
combined pituitary hormone
|
ahg
|
anemia, iron-
|
homocystinuria; vitamin b 12
|
factor xi
|
hyperhomocystinemia; cystathionine beta-synthase
|
celiac disease; common variable immuno
|
ahg
|
tetrahydrobiopterin
|
cardiovascular diseases; coronary disease; factor xii
|
immunologic
|
anemia, iron-
|
favism; glucosephosphate dehydrogenase
|
glucosephosphate dehydrogenase
|
common variable immuno
|
scad
|
inosine triphosphate
|
apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; protein c
|
folic acid
|
folic acid
|
vitamin d
|
anemia, iron-
|
|
Simian Acquired Immune
|
Nutritional
|
Iron
|
iron
|
immunoglobulin alpha
|
factor vii
|
complement
|
protein c
|
selective ige
|
factor viii
|
selective igg
|
selective iga
|
b cell
|
selective immunoglobulin
|
vitamin b12
|
nutritional
|
vitamin e
|
iga
|
iga
|
iron
|
igm
|
ige
|
vitamin b6
|
specific antibody
|
vitamin b12
|
complement
|
gonadotropin
|
vitamin k
|
glutathione synthetase
|
adrenocorticotropic hormone
|
factor x activation
|
long chain 3 hydroxyacyl coa dehydrogenase
|
hypothalamic gonadotropin-releasing hormone (gnrh)
|
growth hormone
|
specific anti-polysaccharide antibody
|
glyoxalase
|
c8
|
sulfite oxidase
|
immunoglobulin igg2
|
prolactin
|
vitamin d
|
|
secondary growth hormone
|
molybdenum c
|
igg
|
aldehyde oxidase
|
propionyl-coa carboxylase
|
|
vitamin e
|
Anemia, Iron-
|
Protein
|
Antithrombin III
|
Vitamin K
|
|
alpha 1-Antitrypsin
|
Yang
|
IgA
|
Lecithin Acyltransferase
|
Folic Acid
|
Vitamin B 12
|
Yin
|
Choline
|
Vitamin A
|
Multiple Acyl Coenzyme A Dehydrogenase
|
Vitamin D
|
Protein S
|
Factor V
|
Factor XIII
|
Biotinidase
|
Factor XII
|
Dihydropyrimidine Dehydrogenase
|
Ascorbic Acid
|
Protein C
|
Mevalonate Kinase
|
Ornithine Carbamoyltransferase
|
Cytochrome-c Oxidase
|
IgG
|
Factor XI
|
Vitamin B
|
DNA Repair-
|
Factor VII
|
Glucosephosphate Dehydrogenase
|
Immunologic
|
{chronic infections, due to mbl
|
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor
|
lysyl hydroxylase 3
|
combined c6/c7
|
[placental lactogen
|
alpha-1-antichymotrypsin
|
dimethylglycine dehydrogenase
|
factor xiiib
|
platelet glycoprotein iv
|
c4b
|
?mitochondrial complex (atp synthase)
|
[neutral endopeptidase
|
pyruvate dehydrogenase lipoic acid synthetase
|
3-methylcrotonyl-coa carboxylase 1
|
glycine n-methyltransferase
|
phospholipase a2, group iv a,
|
intrinsic factor
|
thrombophilia due to hrg
|
severe combined immuno
|
aminoacylase 1
|
dna ligase i
|
plasma fibronectin
|
pyruvate dehydrogenase e1-beta
|
thrombophilia due to protein s
|
combined oxidative phosphorylation
|