Name

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

complement component 4, partial deficiency of Gene Set

From OMIM Gene-Disease Associations

genes associated with the complement component 4, partial deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Complement Component 6 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset.

complement component 5 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease complement component 5 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

complement component c1 complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the complement component c1 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

complement component c1 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the complement component c1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

complement component c5a signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the complement component c5a signaling pathway biological process from the curated GO Biological Process Annotations dataset.

complement component c1 complex Gene Set

From GO Cellular Component Annotations

proteins localized to the complement component c1 complex cellular component from the curated GO Cellular Component Annotations dataset.

complement component c3a receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the complement component c3a receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

complement component c1q binding Gene Set

From GO Molecular Function Annotations

genes performing the complement component c1q binding molecular function from the curated GO Molecular Function Annotations dataset.

complement component c4b binding Gene Set

From GO Molecular Function Annotations

genes performing the complement component c4b binding molecular function from the curated GO Molecular Function Annotations dataset.

complement component c3b receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the complement component c3b receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

complement component c5a binding Gene Set

From GO Molecular Function Annotations

genes performing the complement component c5a binding molecular function from the curated GO Molecular Function Annotations dataset.

complement component c4b receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the complement component c4b receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

complement component c5a receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the complement component c5a receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

complement component c3b binding Gene Set

From GO Molecular Function Annotations

genes performing the complement component c3b binding molecular function from the curated GO Molecular Function Annotations dataset.

Alpha-macroglobulin complement component Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alpha-macroglobulin complement component protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Membrane attack complex component/perforin/complement C9 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane attack complex component/perforin/complement C9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Gamma-tubulin complex component/Spindle pole body component Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Gamma-tubulin complex component/Spindle pole body component protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adenosine deaminase deficiency, partial Gene Set

From OMIM Gene-Disease Associations

genes associated with the adenosine deaminase deficiency, partial phenotype from the curated OMIM Gene-Disease Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement Factor H Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

complement deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease complement deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement factor i deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease complement factor i deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease complement deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

complement factor i deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease complement factor i deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

complement deficiency Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease complement deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

complement deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the complement deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complement factor d deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the complement factor d deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

complement factor h deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the complement factor h deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?complement factor b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?complement factor b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

complement factor i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the complement factor i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

rostral division of OFCi (area 11) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in rostral division of OFCi (area 11) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

ofloxacin-2340 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the ofloxacin-2340 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

ofloxacin-2302 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the ofloxacin-2302 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

ofloxacin-7372 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the ofloxacin-7372 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

ofloxacin-3673 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the ofloxacin-3673 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

ofloxacin-4696 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the ofloxacin-4696 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

Ofloxacin Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Ofloxacin from the curated CTD Gene-Chemical Interactions dataset.

specific bursitis often of occupational origin Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease specific bursitis often of occupational origin in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Ofloxacin Gene Set

From DrugBank Drug Targets

interacting proteins for the Ofloxacin drug from the curated DrugBank Drug Targets dataset.

violent offenders with mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease violent offenders with mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ofc Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofc in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

off Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term off in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofr Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofr in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

of1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term of1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofd Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofd in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offspring Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offspring in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offer Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offer in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofor Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofor in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

officers Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term officers in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofbetacatenin Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofbetacatenin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offpathway Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offpathway in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

officinalis Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term officinalis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofalzheimer Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofalzheimer in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

office Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term office in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofucose Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofucose in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offering Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offering in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofpaediatric Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofpaediatric in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offtarget Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offtarget in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofucosylation Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofucosylation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

oftrpv14 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term oftrpv14 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofthe Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofthe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offon Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offon in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofqnociceptin Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofqnociceptin in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offpump Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offpump in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofalphasynuclein Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofalphasynuclein in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofuterine Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofuterine in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofmt Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofmt in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offered Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offered in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofucosyltransferase Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofucosyltransferase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

often Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term often in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

officially Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term officially in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offrate Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offrate in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offsprings Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offsprings in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offers Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offers in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offenders Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offenders in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

official Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term official in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

offset Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term offset in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofankk1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofankk1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofd1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofd1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ofendothelial Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term ofendothelial in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

[Arg14Lys15]N/OFQ Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [Arg14Lys15]N/OFQ ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

N/OFQ-(1-13)-NH2 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the N/OFQ-(1-13)-NH2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

[(pF)Phe4]N/OFQ-(1-13)-NH2 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [(pF)Phe4]N/OFQ-(1-13)-NH2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

ofatumumab Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the ofatumumab ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

[3H]N/OFQ Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [3H]N/OFQ ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

[3H]Tyr14-N/OFQ Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [3H]Tyr14-N/OFQ ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

N/OFQ-NH2 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the N/OFQ-NH2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

[Nphe1]N/OFQ-(1-13)-NH2 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [Nphe1]N/OFQ-(1-13)-NH2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

[F/G]N/OFQ-(1-13)-NH2 Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [F/G]N/OFQ-(1-13)-NH2 ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Ofloxacin Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Ofloxacin metabolite from the curated HMDB Metabolites of Enzymes dataset.

flattened, squared-off epiphyses of tubular bones Gene Set

From HPO Gene-Disease Associations

genes associated with the flattened, squared-off epiphyses of tubular bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal offspring retrieval Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal offspring retrieval phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

OFD1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for OFD1 from the Pathway Commons Protein-Protein Interactions dataset.

OFCC1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for OFCC1 from the Pathway Commons Protein-Protein Interactions dataset.

Hedgehog 'off' state Gene Set

From Reactome Pathways

proteins participating in the Hedgehog 'off' state pathway from the Reactome Pathways dataset.

Epilepsy, partial, with variable foci Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, partial, with variable foci phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Colorblindness, partial, deutan series Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Colorblindness, partial, deutan series phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipodystrophy, familial partial, type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipodystrophy, familial partial, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipodystrophy, familial partial, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipodystrophy, familial partial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

46,XY gonadal dysgenesis, partial, with minifascicular neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial congenital absence of teeth Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial congenital absence of teeth phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial albinism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corpus Callosum, Partial Agenesis of, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corpus Callosum, Partial Agenesis of, X-Linked from the curated CTD Gene-Disease Associations dataset.

COLORBLINDNESS, PARTIAL, DEUTAN SERIES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COLORBLINDNESS, PARTIAL, DEUTAN SERIES from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Partial, Acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipodystrophy, Partial, Acquired from the curated CTD Gene-Disease Associations dataset.

Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome from the curated CTD Gene-Disease Associations dataset.

46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related from the curated CTD Gene-Disease Associations dataset.

Lipodystrophy, Familial Partial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipodystrophy, Familial Partial from the curated CTD Gene-Disease Associations dataset.

Epilepsies, Partial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsies, Partial from the curated CTD Gene-Disease Associations dataset.

COLORBLINDNESS, PARTIAL, PROTAN SERIES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COLORBLINDNESS, PARTIAL, PROTAN SERIES from the curated CTD Gene-Disease Associations dataset.

46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy from the curated CTD Gene-Disease Associations dataset.

Epilepsy, Partial, with Variable Foci Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, Partial, with Variable Foci from the curated CTD Gene-Disease Associations dataset.

Epilepsy, Complex Partial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, Complex Partial from the curated CTD Gene-Disease Associations dataset.

Epilepsy, Partial, with Pericentral Spikes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, Partial, with Pericentral Spikes from the curated CTD Gene-Disease Associations dataset.

Partial Thromboplastin Time Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Partial Thromboplastin Time in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Epilepsies, Partial Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Epilepsies, Partial in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

partial central choroid dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease partial central choroid dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

complex partial epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease complex partial epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

partial third-nerve palsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease partial third-nerve palsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

partial fetal alcohol syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease partial fetal alcohol syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

partial motor epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease partial motor epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

partial optic atrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease partial optic atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

familial partial lipodystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease familial partial lipodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

epilepsies, partial; gingival hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epilepsies, partial; gingival hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsies, partial; epilepsy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epilepsies, partial; epilepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

partial thromboplastin time Gene Set

From GAD Gene-Disease Associations

genes associated with the disease partial thromboplastin time in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsy, complex partial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epilepsy, complex partial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsies, partial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epilepsies, partial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsies, partial; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epilepsies, partial; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial partial lipodystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial partial lipodystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsies, partial; epilepsy, generalized; seizures, febrile Gene Set

From GAD Gene-Disease Associations

genes associated with the disease epilepsies, partial; epilepsy, generalized; seizures, febrile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

partial Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term partial in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Partial epilepsies Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Partial epilepsies phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Activated partial thromboplastin time Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Activated partial thromboplastin time phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

partial agenesis of the corpus callosum Gene Set

From HPO Gene-Disease Associations

genes associated with the partial agenesis of the corpus callosum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial fusion of carpals Gene Set

From HPO Gene-Disease Associations

genes associated with the partial fusion of carpals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanges of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanges of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial development of the penile shaft Gene Set

From HPO Gene-Disease Associations

genes associated with the partial development of the penile shaft phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial abdominal muscle agenesis Gene Set

From HPO Gene-Disease Associations

genes associated with the partial abdominal muscle agenesis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanges of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanges of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanges of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanges of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

prolonged partial thromboplastin time Gene Set

From HPO Gene-Disease Associations

genes associated with the prolonged partial thromboplastin time phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of thumb phalanx Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of thumb phalanx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial fusion of tarsals Gene Set

From HPO Gene-Disease Associations

genes associated with the partial fusion of tarsals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial absence of thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the partial absence of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial albinism Gene Set

From HPO Gene-Disease Associations

genes associated with the partial albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Lipodystrophy, Familial Partial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Lipodystrophy, Familial Partial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Epilepsies, Partial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Epilepsies, Partial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Epilepsy, Complex Partial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Epilepsy, Complex Partial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Partial AB-hydrolase lipase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Partial AB-hydrolase lipase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

partial embryonic lethality at implantation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial embryonic lethality at implantation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial embryonic lethality between somite formation and embryo turning Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial embryonic lethality between somite formation and embryo turning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal partial thromboplastin time Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal partial thromboplastin time phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial embryonic lethality before implantation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial embryonic lethality before implantation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial lethality at weaning Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial lethality at weaning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial postnatal lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial postnatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial atrioventricular septal defect Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial atrioventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial neonatal lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial neonatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial embryonic lethality between implantation and placentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial embryonic lethality between implantation and placentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial embryonic lethality between implantation and somite formation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial embryonic lethality between implantation and somite formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial prenatal lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial prenatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial loss of secondary muscle spindle Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial loss of secondary muscle spindle phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased partial thromboplastin time Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased partial thromboplastin time phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial preweaning lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial preweaning lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial embryonic lethality during organogenesis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial embryonic lethality during organogenesis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial lethality during fetal growth through weaning Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial lethality during fetal growth through weaning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial embryonic lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial embryonic lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial perinatal lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial perinatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

partial lethality throughout fetal growth and development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial lethality throughout fetal growth and development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

epilepsy, partial, with pericentral spikes Gene Set

From OMIM Gene-Disease Associations

genes associated with the epilepsy, partial, with pericentral spikes phenotype from the curated OMIM Gene-Disease Associations dataset.

lipodystrophy, familial partial, type 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lipodystrophy, familial partial, type 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

lipodystrophy, familial partial, type 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lipodystrophy, familial partial, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

46xy partial gonadal dysgenesis, with minifascicular neuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the 46xy partial gonadal dysgenesis, with minifascicular neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

lipodystrophy, familial partial, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the lipodystrophy, familial partial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete phenotype from the curated OMIM Gene-Disease Associations dataset.

corpus callosum, partial agenesis of Gene Set

From OMIM Gene-Disease Associations

genes associated with the corpus callosum, partial agenesis of phenotype from the curated OMIM Gene-Disease Associations dataset.

androgen insensitivity, partial, with or without breast cancer Gene Set

From OMIM Gene-Disease Associations

genes associated with the androgen insensitivity, partial, with or without breast cancer phenotype from the curated OMIM Gene-Disease Associations dataset.

?lipodystrophy, familial partial, type 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?lipodystrophy, familial partial, type 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

{lipodystrophy, partial, acquired, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {lipodystrophy, partial, acquired, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

lectin induced complement pathway Gene Set

From Biocarta Pathways

proteins participating in the lectin induced complement pathway pathway from the Biocarta Pathways dataset.

classical complement pathway Gene Set

From Biocarta Pathways

proteins participating in the classical complement pathway pathway from the Biocarta Pathways dataset.

alternative complement pathway Gene Set

From Biocarta Pathways

proteins participating in the alternative complement pathway pathway from the Biocarta Pathways dataset.

Complement C4b-Binding Protein Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Complement C4b-Binding Protein in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

complement c4 complotypes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease complement c4 complotypes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

complement c4b-binding protein Gene Set

From GAD Gene-Disease Associations

genes associated with the disease complement c4b-binding protein in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

complement Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term complement in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

negative regulation of complement activation, lectin pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of complement activation, lectin pathway biological process from the curated GO Biological Process Annotations dataset.

complement activation, classical pathway Gene Set

From GO Biological Process Annotations

genes participating in the complement activation, classical pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of complement activation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of complement activation biological process from the curated GO Biological Process Annotations dataset.

regulation of complement activation, alternative pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of complement activation, alternative pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of complement activation, alternative pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of complement activation, alternative pathway biological process from the curated GO Biological Process Annotations dataset.

complement activation Gene Set

From GO Biological Process Annotations

genes participating in the complement activation biological process from the curated GO Biological Process Annotations dataset.

regulation of complement activation, lectin pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of complement activation, lectin pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of complement activation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of complement activation biological process from the curated GO Biological Process Annotations dataset.

negative regulation of complement activation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of complement activation biological process from the curated GO Biological Process Annotations dataset.

complement activation, lectin pathway Gene Set

From GO Biological Process Annotations

genes participating in the complement activation, lectin pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of complement-dependent cytotoxicity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of complement-dependent cytotoxicity biological process from the curated GO Biological Process Annotations dataset.

regulation of complement activation, classical pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of complement activation, classical pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of complement activation, classical pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of complement activation, classical pathway biological process from the curated GO Biological Process Annotations dataset.

complement activation, alternative pathway Gene Set

From GO Biological Process Annotations

genes participating in the complement activation, alternative pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of complement-dependent cytotoxicity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of complement-dependent cytotoxicity biological process from the curated GO Biological Process Annotations dataset.

complement-dependent cytotoxicity Gene Set

From GO Biological Process Annotations

genes participating in the complement-dependent cytotoxicity biological process from the curated GO Biological Process Annotations dataset.

complement receptor mediated signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the complement receptor mediated signaling pathway biological process from the curated GO Biological Process Annotations dataset.

complement binding Gene Set

From GO Molecular Function Annotations

genes performing the complement binding molecular function from the curated GO Molecular Function Annotations dataset.

complement receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the complement receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

Complement C3 and C4 levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Complement C3 and C4 levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

abnormality of complement system Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of complement system phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of complement system Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of complement system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

depletion of components of the alternative complement pathway Gene Set

From HPO Gene-Disease Associations

genes associated with the depletion of components of the alternative complement pathway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased serum complement c9 Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased serum complement c9 phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased serum complement c3 Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased serum complement c3 phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased serum complement factor b Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased serum complement factor b phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased serum complement factor h Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased serum complement factor h phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased serum complement factor i Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased serum complement factor i phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dysfunctional alternative complement pathway Gene Set

From HPO Gene-Disease Associations

genes associated with the dysfunctional alternative complement pathway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the alternate complement pathway Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the alternate complement pathway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Peptidase S1A, complement C1r/C1S/mannan-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase S1A, complement C1r/C1S/mannan-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Anaphylatoxin, complement system domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Anaphylatoxin, complement system domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Complement factor B Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Complement factor B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Complement Clr-like EGF domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Complement Clr-like EGF domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Anaphylatoxin, complement system Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Anaphylatoxin, complement system protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Complement B/C2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Complement B/C2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Complement C1q protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Complement C1q protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

complement and coagulation cascades Gene Set

From KEGG Pathways

proteins participating in the complement and coagulation cascades pathway from the KEGG Pathways dataset.

decreased circulating complement protein level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased circulating complement protein level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal circulating complement protein level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal circulating complement protein level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

impaired lectin complement pathway Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the impaired lectin complement pathway phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

impaired complement classical pathway Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the impaired complement classical pathway phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

impaired complement alternative pathway Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the impaired complement alternative pathway phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal complement pathway Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal complement pathway phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal complement protein level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal complement protein level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Alternative complement activation Gene Set

From Reactome Pathways

proteins participating in the Alternative complement activation pathway from the Reactome Pathways dataset.

Complement cascade Gene Set

From Reactome Pathways

proteins participating in the Complement cascade pathway from the Reactome Pathways dataset.

Regulation of Complement cascade Gene Set

From Reactome Pathways

proteins participating in the Regulation of Complement cascade pathway from the Reactome Pathways dataset.

Initial triggering of complement Gene Set

From Reactome Pathways

proteins participating in the Initial triggering of complement pathway from the Reactome Pathways dataset.

Lectin pathway of complement activation Gene Set

From Reactome Pathways

proteins participating in the Lectin pathway of complement activation pathway from the Reactome Pathways dataset.

Terminal pathway of complement Gene Set

From Reactome Pathways

proteins participating in the Terminal pathway of complement pathway from the Reactome Pathways dataset.

Classical antibody-mediated complement activation Gene Set

From Reactome Pathways

proteins participating in the Classical antibody-mediated complement activation pathway from the Reactome Pathways dataset.

Complement Activation, Classical Pathway(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Complement Activation, Classical Pathway(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Complement Activation, Classical Pathway(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Complement Activation, Classical Pathway(Mus musculus) pathway from the Wikipathways Pathways dataset.

Complement and Coagulation Cascades(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Complement and Coagulation Cascades(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Complement and Coagulation Cascades(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Complement and Coagulation Cascades(Mus musculus) pathway from the Wikipathways Pathways dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From 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 deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

overview of telomerase rna component gene hterc transcriptional regulation Gene Set

From Biocarta Pathways

proteins participating in the overview of telomerase rna component gene hterc transcriptional regulation pathway from the Biocarta Pathways dataset.

overview of telomerase protein component gene htert transcriptional regulation Gene Set

From Biocarta Pathways

proteins participating in the overview of telomerase protein component gene htert transcriptional regulation pathway from the Biocarta Pathways dataset.

integral component of mitochondrial membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of mitochondrial membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of cell outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of cell outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of peroxisomal membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of peroxisomal membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of the cytoplasmic side of the plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of the cytoplasmic side of the plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

spanning component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the spanning component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of synaptic vesicle membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of synaptic vesicle membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of peroxisomal membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of peroxisomal membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of nuclear inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of nuclear inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of lumenal side of endoplasmic reticulum membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of lumenal side of endoplasmic reticulum membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of endoplasmic reticulum membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of endoplasmic reticulum membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of golgi membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of golgi membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of mitochondrial inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of mitochondrial inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of cell outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of cell outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of cytoplasmic side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of mitochondrial membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of nuclear outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of nuclear outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of mitochondrial inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of cytoplasmic side of endoplasmic reticulum membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of cytoplasmic side of endoplasmic reticulum membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

spanning component of membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the spanning component of membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of golgi membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of golgi membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of organelle membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of organelle membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of endosome membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of endosome membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of endoplasmic reticulum membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of endoplasmic reticulum membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of endosome membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of endosome membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of nuclear outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of nuclear outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of nuclear inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of nuclear inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of endoplasmic reticulum membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of endoplasmic reticulum membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of organelle membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of organelle membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of organelle membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of organelle membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

granular component Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the granular component cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of golgi membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of golgi membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of mitochondrial membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of mitochondrial membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

anchored component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the anchored component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

spanning component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the spanning component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of organelle membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of organelle membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of golgi membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of golgi membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of mitochondrial inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of mitochondrial inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of cytoplasmic side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of mitochondrial membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

anchored component of membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the anchored component of membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

spanning component of membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the spanning component of membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

granular component Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the granular component cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of organelle membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of organelle membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of endoplasmic reticulum membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of endoplasmic reticulum membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

dense fibrillar component Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dense fibrillar component cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of intraperoxisomal membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of intraperoxisomal membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of endoplasmic reticulum membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of endoplasmic reticulum membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of organelle membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of organelle membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of golgi membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of golgi membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

component Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term component in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

regulation of cellular component size Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cellular component size biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cellular component organization Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cellular component organization biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cellular component organization Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cellular component organization biological process from the curated GO Biological Process Annotations dataset.

cellular component disassembly Gene Set

From GO Biological Process Annotations

genes participating in the cellular component disassembly biological process from the curated GO Biological Process Annotations dataset.

cellular component biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the cellular component biogenesis biological process from the curated GO Biological Process Annotations dataset.

cellular component organization or biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the cellular component organization or biogenesis biological process from the curated GO Biological Process Annotations dataset.

regulation of cellular component organization Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cellular component organization biological process from the curated GO Biological Process Annotations dataset.

cellular component assembly involved in morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the cellular component assembly involved in morphogenesis biological process from the curated GO Biological Process Annotations dataset.

cellular component morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the cellular component morphogenesis biological process from the curated GO Biological Process Annotations dataset.

regulation of cellular component movement Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cellular component movement biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cellular component biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cellular component biogenesis biological process from the curated GO Biological Process Annotations dataset.

cellular component assembly Gene Set

From GO Biological Process Annotations

genes participating in the cellular component assembly biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cellular component movement Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cellular component movement biological process from the curated GO Biological Process Annotations dataset.

regulation of cellular component biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cellular component biogenesis biological process from the curated GO Biological Process Annotations dataset.

cellular component organization Gene Set

From GO Biological Process Annotations

genes participating in the cellular component organization biological process from the curated GO Biological Process Annotations dataset.

movement of cell or subcellular component Gene Set

From GO Biological Process Annotations

genes participating in the movement of cell or subcellular component biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cellular component movement Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cellular component movement biological process from the curated GO Biological Process Annotations dataset.

cellular component maintenance Gene Set

From GO Biological Process Annotations

genes participating in the cellular component maintenance biological process from the curated GO Biological Process Annotations dataset.

cellular component disassembly involved in execution phase of apoptosis Gene Set

From GO Biological Process Annotations

genes participating in the cellular component disassembly involved in execution phase of apoptosis biological process from the curated GO Biological Process Annotations dataset.

extrinsic component of organelle membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of organelle membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of omegasome membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of omegasome membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of cell outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of cell outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of peroxisomal membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of peroxisomal membrane cellular component from the curated GO Cellular Component Annotations dataset.

anchored component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the anchored component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

anchored component of membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the anchored component of membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of vacuolar membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of vacuolar membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of the cytoplasmic side of the plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of the cytoplasmic side of the plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of cytoplasmic side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of endosome membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of endosome membrane cellular component from the curated GO Cellular Component Annotations dataset.

spanning component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the spanning component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of synaptic vesicle membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of synaptic vesicle membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of mitochondrial membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of mitochondrial membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of nuclear inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of nuclear inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of lumenal side of endoplasmic reticulum membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of lumenal side of endoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of endoplasmic reticulum membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of endoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of organelle membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of organelle membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of golgi membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of golgi membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of mitochondrial inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of mitochondrial inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of cell outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of cell outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of omegasome membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of omegasome membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of mitochondrial membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of mitochondrial membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of nuclear outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of nuclear outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of mitochondrial inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of mitochondrial inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of cytoplasmic side of endoplasmic reticulum membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of cytoplasmic side of endoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations dataset.

spanning component of membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the spanning component of membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of golgi membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of golgi membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of organelle membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of organelle membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of mitochondrial inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of mitochondrial inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of endoplasmic reticulum membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of endoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of autophagic vacuole membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of autophagic vacuole membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of endosome membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of endosome membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of nuclear outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of nuclear outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

anchored component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the anchored component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of nuclear inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of nuclear inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of endoplasmic reticulum membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of endoplasmic reticulum membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of membrane cellular component from the curated GO Cellular Component Annotations dataset.

granular component Gene Set

From GO Cellular Component Annotations

proteins localized to the granular component cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of omegasome membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of omegasome membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of golgi membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of golgi membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of pre-autophagosomal structure membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of pre-autophagosomal structure membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of peroxisomal membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of peroxisomal membrane cellular component from the curated GO Cellular Component Annotations dataset.

Proteasome component ECM29/Translational activator GCN1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Proteasome component ECM29/Translational activator GCN1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exosome complex component CSL4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exosome complex component CSL4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin system component Cue Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin system component Cue protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Spindle assembly checkpoint component Mad1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Spindle assembly checkpoint component Mad1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Gamma-tubulin complex component protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Gamma-tubulin complex component protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

COG complex component, COG2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the COG complex component, COG2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exocyst complex component Sec5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exocyst complex component Sec5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dehydrogenase, E1 component Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dehydrogenase, E1 component protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exocyst complex component Sec6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exocyst complex component Sec6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exocyst complex, component 1/SEC3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exocyst complex, component 1/SEC3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CCR4-Not complex component, Not1, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CCR4-Not complex component, Not1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exocyst complex component Sec3, PIP2-binding N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exocyst complex component Sec3, PIP2-binding N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Proteasome component (PCI) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Proteasome component (PCI) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyruvate dehydrogenase E1 component subunit beta Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyruvate dehydrogenase E1 component subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SWI/SNF chromatin-remodeling complex, component hSNF5/Ini1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SWI/SNF chromatin-remodeling complex, component hSNF5/Ini1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SKP1 component, dimerisation Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SKP1 component, dimerisation protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transcription initiation factor TFIID component TAF4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transcription initiation factor TFIID component TAF4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Rab proteins geranylgeranyltransferase component A Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Rab proteins geranylgeranyltransferase component A protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Transport protein particle (TRAPP) component Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Transport protein particle (TRAPP) component protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA-induced silencing complex, nuclease component Tudor-SN Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA-induced silencing complex, nuclease component Tudor-SN protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ceramide synthase component Lag1/Lac1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ceramide synthase component Lag1/Lac1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

N-acetylglucosaminyl transferase component Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the N-acetylglucosaminyl transferase component protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SKP1 component, POZ domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SKP1 component, POZ domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Kinetochore component CENP-S Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Kinetochore component CENP-S protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitotic checkpoint serine/threonine protein kinase Bub1/Mitotic spindle checkpoint component Mad3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitotic checkpoint serine/threonine protein kinase Bub1/Mitotic spindle checkpoint component Mad3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Nucleoporin interacting component Nup93/Nic96 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nucleoporin interacting component Nup93/Nic96 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sec8 exocyst complex component specific domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sec8 exocyst complex component specific domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ferric reductase transmembrane component-like domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ferric reductase transmembrane component-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPI transamidase component Gaa1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPI transamidase component Gaa1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exosome complex component, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exosome complex component, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2-oxoglutarate dehydrogenase E1 component Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2-oxoglutarate dehydrogenase E1 component protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Membrane attack complex component/perforin domain, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane attack complex component/perforin domain, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPI transamidase component PIG-T Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPI transamidase component PIG-T protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPI-GlcNAc transferase complex, PIG-H component, conserved domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPI-GlcNAc transferase complex, PIG-H component, conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Replication fork protection component Swi3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Replication fork protection component Swi3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Membrane attack complex component/perforin (MACPF) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane attack complex component/perforin (MACPF) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polyubiquitin-tagged protein recognition complex, Npl4 component Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polyubiquitin-tagged protein recognition complex, Npl4 component protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CCR4-Not complex component, Not N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CCR4-Not complex component, Not N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

COG complex component, COG2, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the COG complex component, COG2, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exocyst complex component Sec10-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exocyst complex component Sec10-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From 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 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acyl-CoA dehydrogenase family, member 9, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From 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 deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From 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 deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset.

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From 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 Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From 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 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From 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 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset.

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From 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 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset.

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From 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 Set

From 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 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From 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, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From 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 Set

From 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 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From 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 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset.

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset.

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset.

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From 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 Set

From 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 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Biotinidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Magnesium Deficiency from the curated CTD Gene-Disease Associations dataset.

2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycosylphosphatidylinositol deficiency from the curated CTD Gene-Disease Associations dataset.

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset.

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset.

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From 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 Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.