Name

May-Hegglin anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the May-Hegglin anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

may-hegglin anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the may-hegglin anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

May-Hegglin Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype May-Hegglin Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

May-White Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease May-White Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

May-Thurner Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease May-Thurner Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5619079 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5619079 pathway from the Reactome Pathways 2024 dataset.

Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5659729 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria_5659729 pathway from the Reactome Pathways 2024 dataset.

Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) pathway from the Reactome Pathways 2024 dataset.

Variant SLC6A14 may confer susceptibility towards obesity Gene Set

From Reactome Pathways 2024

proteins participating in the Variant SLC6A14 may confer susceptibility towards obesity pathway from the Reactome Pathways 2024 dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pelger-Huët anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pelger-Huët anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Axenfeld anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Axenfeld anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Axenfeld-rieger anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Axenfeld-rieger anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caudal Duplication Anomaly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Caudal Duplication Anomaly from the curated CTD Gene-Disease Associations dataset.

Peters anomaly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peters anomaly from the curated CTD Gene-Disease Associations dataset.

Pelger-Huet Anomaly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pelger-Huet Anomaly from the curated CTD Gene-Disease Associations dataset.

coronary artery anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

pelger-huet anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

ebstein anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

peters' anomaly Gene Set

From GAD Gene-Disease Associations

genes associated with the disease peters' anomaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anomaly Gene Set

From GeneRIF Biological Term Annotations

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

anomaly of the upper limb diaphyses Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anomaly of the upper limb diaphyses phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

anomaly of the limb diaphyses Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anomaly of the limb diaphyses phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

branchial anomaly Gene Set

From HPO Gene-Disease Associations

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

peters anomaly Gene Set

From HPO Gene-Disease Associations

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

vertebral arch anomaly Gene Set

From HPO Gene-Disease Associations

genes associated with the vertebral arch anomaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

malar anomaly Gene Set

From HPO Gene-Disease Associations

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

axenfeld anomaly Gene Set

From HPO Gene-Disease Associations

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

eye of the tiger anomaly of globus pallidus Gene Set

From HPO Gene-Disease Associations

genes associated with the eye of the tiger anomaly of globus pallidus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

urogenital sinus anomaly Gene Set

From HPO Gene-Disease Associations

genes associated with the urogenital sinus anomaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sprengel anomaly Gene Set

From HPO Gene-Disease Associations

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

anorectal anomaly Gene Set

From HPO Gene-Disease Associations

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

rieger anomaly Gene Set

From HPO Gene-Disease Associations

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

sperm head anomaly Gene Set

From HPO Gene-Disease Associations

genes associated with the sperm head anomaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duane anomaly Gene Set

From HPO Gene-Disease Associations

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

anomaly of the limb diaphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the anomaly of the limb diaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Ebstein Anomaly Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ebstein Anomaly phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

peters anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the peters anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

?caudal duplication anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?caudal duplication anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

conotruncal anomaly face syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the conotruncal anomaly face syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

pelger-huet anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the pelger-huet anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

?morning glory disc anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?morning glory disc anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

scaphocephaly and axenfeld-rieger anomaly Gene Set

From OMIM Gene-Disease Associations

genes associated with the scaphocephaly and axenfeld-rieger anomaly phenotype from the curated OMIM Gene-Disease Associations dataset.

Ebstein Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ebstein Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pelger-Huet Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pelger-Huet Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Conotruncal Anomaly Face Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Conotruncal Anomaly Face Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Caudal Duplication Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Caudal Duplication Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomaly Of Anterior Segment Of Eye Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Anterior Segment Of Eye in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Taussig-Bing Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Taussig-Bing Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomaly Of Aortic Arch Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Aortic Arch in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urogenital Sinus Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urogenital Sinus Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pulmonary Venous Return Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pulmonary Venous Return Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Vitreous Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Vitreous Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Axenfeld Anomaly (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Axenfeld Anomaly (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Brain Small Vessel Disease With Axenfeld-Rieger Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Brain Small Vessel Disease With Axenfeld-Rieger Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomaly Of Rectum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Rectum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gallbladder Anomaly Congenital Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gallbladder Anomaly Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Morning Glory Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Morning Glory Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Presentey Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Presentey Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acquired Anomaly Of Tongue Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acquired Anomaly Of Tongue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomaly Of Tongue Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Tongue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Uhl Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Uhl Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neurodevelopmental Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neurodevelopmental Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomaly Of Eyelid Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Eyelid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomaly Of Nose Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Optic Disc Structural Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Optic Disc Structural Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Ebstein'S Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Ebstein'S Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Major Congenital Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Major Congenital Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Anomaly Of Ischium Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Anomaly Of Ischium in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Branchial Anomaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Branchial Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Vascular Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Vascular Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Vertebral Arch Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Vertebral Arch Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Sperm Tail Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Sperm Tail Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Eye Of The Tiger Anomaly Of Globus Pallidus Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Eye Of The Tiger Anomaly Of Globus Pallidus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Anomaly Of Placenta Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Anomaly Of Placenta in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Sperm Head Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Sperm Head Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pseudo Pelger-Huet Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Pseudo Pelger-Huet Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Klippel-Feil Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Klippel-Feil Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Sperm Mid-Piece Anomaly Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Sperm Mid-Piece Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Peters anomaly Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Peters anomaly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Peters anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Peters anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Coronary artery anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Coronary artery anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pelger-Huet anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pelger-Huet anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Central conducting lymphatic anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Central conducting lymphatic anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ebstein anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Ebstein anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Generalized lymphatic anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Generalized lymphatic anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital anomaly of kidney and urinary tract Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital anomaly of kidney and urinary tract phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Scaphocephaly and axenfeld-rieger anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Scaphocephaly and axenfeld-rieger anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone qualitative anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-substance anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-substance anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature-optic atrophy-Pelger-Huet anomaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature-optic atrophy-Pelger-Huet anomaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ebstein anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ebstein anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital total pulmonary venous return anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital total pulmonary venous return anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Branchial cleft anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Branchial cleft anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pelger-Huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pelger-Huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rieger anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rieger anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Arthrogryposis-like hand anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Arthrogryposis-like hand anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial cavitary optic disk anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial cavitary optic disk anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital anomaly of face Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital anomaly of face phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Axenfeld-Rieger anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Axenfeld-Rieger anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.