Name

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

aortic valve insufficiency; calcinosis; mitral valve insufficiency; rheumatic heart disease; tricuspid valve insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic valve insufficiency; calcinosis; mitral valve insufficiency; rheumatic heart disease; tricuspid valve insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

respiratory distress syndrome, adult; respiratory insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, adult; respiratory insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic kidney insufficiency; hypertension, renal; nephrosclerosis; renal hypertension; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; hypertension, renal; nephrosclerosis; renal hypertension; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic kidney insufficiency; hypertension; nephrosclerosis; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; hypertension; nephrosclerosis; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic kidney insufficiency; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic kidney insufficiency; gout; kidney calculi; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; gout; kidney calculi; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic kidney insufficiency; hypertension, renal; proteinuria; renal hypertension; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; hypertension, renal; proteinuria; renal hypertension; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic kidney insufficiency; diabetic nephropathies; diabetic nephropathy; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; diabetic nephropathies; diabetic nephropathy; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic kidney insufficiency; diabetes mellitus type ii; diabetes mellitus, type 2; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic kidney insufficiency; diabetes mellitus type ii; diabetes mellitus, type 2; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Weakness Due To Upper Motor Neuron Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fatigable Weakness Of Respiratory Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatigable Weakness Of Respiratory Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Respiratory Insufficiency Gene Set

From CTD Gene-Disease Associations

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

pain, postoperative; postoperative nausea and vomiting; pruritus; pruritus nos; respiratory insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pain, postoperative; postoperative nausea and vomiting; pruritus; pruritus nos; respiratory insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory insufficiency Gene Set

From HPO Gene-Disease Associations

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

restrictive respiratory insufficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the restrictive respiratory insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Respiratory Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Chronic Respiratory Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Respiratory Insufficiency Gene Set

From DisGeNET Gene-Phenotype Associations

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

Respiratory insufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Respiratory insufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle Weakness Gene Set

From CTD Gene-Disease Associations

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

Episodic Muscle Weakness, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Episodic Muscle Weakness, X-Linked from the curated CTD Gene-Disease Associations dataset.

deglutition disorders; muscle weakness; myositis, inclusion body Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deglutition disorders; muscle weakness; myositis, inclusion body in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abdominal wall muscle weakness Gene Set

From HPO Gene-Disease Associations

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

distal upper limb muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the distal upper limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

peroneal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

late-onset distal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the late-onset distal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

limb muscle weakness Gene Set

From HPO Gene-Disease Associations

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

first dorsal interossei muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the first dorsal interossei muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

late-onset proximal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the late-onset proximal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscle weakness Gene Set

From HPO Gene-Disease Associations

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

progressive muscle weakness Gene Set

From HPO Gene-Disease Associations

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

shoulder girdle muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the shoulder girdle muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal lower limb muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the distal lower limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neck muscle weakness Gene Set

From HPO Gene-Disease Associations

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

intercostal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

lower limb muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the lower limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal muscle weakness in lower limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal muscle weakness in lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized muscle weakness Gene Set

From HPO Gene-Disease Associations

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

progressive proximal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive proximal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

distal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

thenar muscle weakness Gene Set

From HPO Gene-Disease Associations

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

quadriceps muscle weakness Gene Set

From HPO Gene-Disease Associations

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

pelvic girdle muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the pelvic girdle muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

axial muscle weakness Gene Set

From HPO Gene-Disease Associations

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

upper limb muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the upper limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal muscle weakness in upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal muscle weakness in upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive distal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive distal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

limb-girdle muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the limb-girdle muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hand muscle weakness Gene Set

From HPO Gene-Disease Associations

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

Muscle Weakness Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

progressive muscle weakness Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the progressive muscle weakness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

muscle weakness Gene Set

From MPO Gene-Phenotype Associations

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

ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene Set

From OMIM Gene-Disease Associations

genes associated with the ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated OMIM Gene-Disease Associations dataset.

episodic muscle weakness, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the episodic muscle weakness, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

Bilateral Facial Muscle Weakness Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bilateral Facial Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Generalized Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Generalized Muscle Weakness, Ctcae Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Muscle Weakness, Ctcae in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Progressive Proximal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Progressive Proximal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Axial Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Late-Onset Distal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Late-Onset Distal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Limb-Girdle Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Limb-Girdle Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Muscle Weakness Of Limb Gene Set

From DisGeNET Gene-Phenotype Associations

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

Neck Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Progressive Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Lower Limb Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Lower Limb Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Distal Upper Limb Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Upper Limb Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Facial Muscle Weakness Of Muscles Innervated By Cn Vii Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Facial Muscle Weakness Of Muscles Innervated By Cn Vii in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Frontalis Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Calf Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Proximal Muscle Weakness In Lower Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Muscle Weakness In Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Muscle Weakness In Upper Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Muscle Weakness In Upper Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hand Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

First Dorsal Interossei Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype First Dorsal Interossei Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Thenar Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Tibialis Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Late-Onset Proximal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Late-Onset Proximal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abdominal Wall Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abdominal Wall Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Progressive Distal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Progressive Distal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Unfavorable Response Of Muscle Weakness To Acetylcholine Esterase Inhibitors Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Unfavorable Response Of Muscle Weakness To Acetylcholine Esterase Inhibitors in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Muscle Pain Or Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Muscle Pain Or Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Intercostal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Peroneal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Weakness Of Orbicularis Oculi Muscle Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Weakness Of Orbicularis Oculi Muscle in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

muscle weakness Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the muscle weakness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

progressive muscle weakness Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the progressive muscle weakness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Lower limb muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lower limb muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive distal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive distal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive proximal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive proximal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal lower limb muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distal lower limb muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Shoulder girdle muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Shoulder girdle muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Limb-girdle muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Limb-girdle muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Generalized muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Generalized muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pelvic girdle muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pelvic girdle muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal muscle weakness in lower limbs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal muscle weakness in lower limbs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.

Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Bronchitis Due To Respiratory Syncytial Virus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

asthma; recurrence; respiratory sounds; respiratory syncytial virus infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; recurrence; respiratory sounds; respiratory syncytial virus infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory syncytial virus infections; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory syncytial virus infections; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

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

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; respiratory hypersensitivity; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; respiratory hypersensitivity; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; prenatal exposure delayed effects; respiratory hypersensitivity; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; prenatal exposure delayed effects; respiratory hypersensitivity; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Respiratory system_CT1_basal cell of epithelium of respiratory bronchiole Gene Set

From HuBMAP ASCT+B Annotations

biomarker genes for the Respiratory system_CT1_basal cell of epithelium of respiratory bronchiole cell type from the HuBMAP ASCT+B dataset.

Respiratory system_CT1_vein endothelial cell of respiratory system Gene Set

From HuBMAP ASCT+B Annotations

biomarker genes for the Respiratory system_CT1_vein endothelial cell of respiratory system cell type from the HuBMAP ASCT+B dataset.

Respiratory system_CT1_endothelial cell of respiratory system lymphatic vessel Gene Set

From HuBMAP ASCT+B Annotations

biomarker genes for the Respiratory system_CT1_endothelial cell of respiratory system lymphatic vessel cell type from the HuBMAP ASCT+B dataset.

Respiratory system_CT1_basal cell of epithelium of respiratory bronchiole Gene Set

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Respiratory system_CT1_basal cell of epithelium of respiratory bronchiole cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

Respiratory system_CT1_endothelial cell of respiratory system lymphatic vessel Gene Set

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Respiratory system_CT1_endothelial cell of respiratory system lymphatic vessel cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

Respiratory system_CT1_vein endothelial cell of respiratory system Gene Set

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Respiratory system_CT1_vein endothelial cell of respiratory system cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

Distal Muscle Atrophy Due To Neurologic Disease Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Glycogen storage disease due to muscle beta-enolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

myopathy, proximal, with early respiratory muscle involvement Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset.

respiratory smooth muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue respiratory smooth muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Respiratory system_CT1_bronchial smooth muscle cell Gene Set

From HuBMAP ASCT+B Annotations

biomarker genes for the Respiratory system_CT1_bronchial smooth muscle cell cell type from the HuBMAP ASCT+B dataset.

Respiratory system_CT1_tracheobronchial smooth muscle Gene Set

From HuBMAP ASCT+B Annotations

biomarker genes for the Respiratory system_CT1_tracheobronchial smooth muscle cell type from the HuBMAP ASCT+B dataset.

Respiratory system_CT1_bronchiolar smooth muscle cell Gene Set

From HuBMAP ASCT+B Annotations

biomarker genes for the Respiratory system_CT1_bronchiolar smooth muscle cell cell type from the HuBMAP ASCT+B dataset.

Respiratory system_CT1_bronchial smooth muscle cell Gene Set

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Respiratory system_CT1_bronchial smooth muscle cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

Respiratory system_CT1_bronchiolar smooth muscle cell Gene Set

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Respiratory system_CT1_bronchiolar smooth muscle cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

Respiratory system_CT1_tracheobronchial smooth muscle Gene Set

From HuBMAP ASCT+B Augmented with RNA-seq Coexpression

biomarker genes for the Respiratory system_CT1_tracheobronchial smooth muscle cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.

Respiratory smooth muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Respiratory smooth muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

weakness Gene Set

From GeneRIF Biological Term Annotations

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

foot dorsiflexor weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the foot dorsiflexor weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

episodic flaccid weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the episodic flaccid weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

scapuloperoneal weakness Gene Set

From HPO Gene-Disease Associations

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

weakness of long finger extensor muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness of long finger extensor muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neck flexor weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the neck flexor weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness of the intrinsic hand muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness of the intrinsic hand muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness of muscles of respiration Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness of muscles of respiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

diaphragmatic weakness Gene Set

From HPO Gene-Disease Associations

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

fatigable weakness Gene Set

From HPO Gene-Disease Associations

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

weakness Gene Set

From MPO Gene-Phenotype Associations

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

Bulbar Weakness Gene Set

From DisGeNET Gene-Disease Associations

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

Foot Dorsiflexor Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Shoulder Girdle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Fatigable Weakness Of Neck Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatigable Weakness Of Neck Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fatigable Weakness Of Bulbar Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatigable Weakness Of Bulbar Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fatigable Weakness Of Distal Limb Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatigable Weakness Of Distal Limb Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fatiguable Weakness Of Proximal Limb Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatiguable Weakness Of Proximal Limb Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Neck Flexor Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Generalized Weakness Of Limb Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Weakness Of Limb Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Quadriceps Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Triceps Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Ankle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hip Flexor Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Weakness Of Long Finger Extensor Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Weakness Of Long Finger Extensor Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Weakness Of The Intrinsic Hand Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Weakness Of The Intrinsic Hand Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Favorable Response Of Weakness To Acetylcholine Esterase Inhibitors Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Favorable Response Of Weakness To Acetylcholine Esterase Inhibitors in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fatigable Weakness Of Swallowing Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatigable Weakness Of Swallowing Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pelvic Girdle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Episodic Flaccid Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Proximal Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Weakness Worsened Gene Set

From DisGeNET Gene-Phenotype Associations

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

Scapuloperoneal Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Finger Flexor Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Fatigable Weakness Of Skeletal Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatigable Weakness Of Skeletal Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Weakness Of Muscles Of Respiration Gene Set

From DisGeNET Gene-Phenotype Associations

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

Fatigable Weakness Of Speech Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatigable Weakness Of Speech Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

weakness Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the weakness phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Scapuloperoneal weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Scapuloperoneal weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Episodic flaccid weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Episodic flaccid weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hip flexor weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hip flexor weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Foot dorsiflexor weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Foot dorsiflexor weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adrenocortical insufficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adrenocortical insufficiency 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.

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset.

Primary Ovarian Insufficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Primary Ovarian Insufficiency from the curated CTD Gene-Disease Associations dataset.

Renal Insufficiency Gene Set

From CTD Gene-Disease Associations

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

Exocrine Pancreatic Insufficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exocrine Pancreatic Insufficiency from the curated CTD Gene-Disease Associations dataset.

Aortic Valve Insufficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aortic Valve Insufficiency from the curated CTD Gene-Disease Associations dataset.

Mitral Valve Insufficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitral Valve Insufficiency from the curated CTD Gene-Disease Associations dataset.

Adrenal Insufficiency Gene Set

From CTD Gene-Disease Associations

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

Primary Ovarian Insufficiency, Fragile X-Associated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Primary Ovarian Insufficiency, Fragile X-Associated from the curated CTD Gene-Disease Associations dataset.

Renal Insufficiency, Chronic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Insufficiency, Chronic from the curated CTD Gene-Disease Associations dataset.

Hepatic Insufficiency Gene Set

From CTD Gene-Disease Associations

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

aortic valve insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

venous insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

chronic intestinal vascular insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease chronic intestinal vascular insufficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

exocrine pancreatic insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

placental insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

tricuspid valve insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

congenital adrenal insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acute vascular insufficiency of intestine Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease acute vascular insufficiency of intestine in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

vertebrobasilar insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

pulmonary valve insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

mitral valve insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

vertebral artery insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

basilar artery insufficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

cystic fibrosis; exocrine pancreatic insufficiency; steatorrhea Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; exocrine pancreatic insufficiency; steatorrhea in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mannose-binding lectin insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mannose-binding lectin insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; exocrine pancreatic insufficiency; pancreatic neoplasms; pancreatitis, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; exocrine pancreatic insufficiency; pancreatic neoplasms; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney; failure; renal insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney; failure; renal insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; exocrine pancreatic insufficiency; pancreatitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; exocrine pancreatic insufficiency; pancreatitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

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

adrenal insufficiency; hypospadias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal insufficiency; hypospadias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic valve insufficiency; aortic valve stenosis; hypertrophy, left ventricular; left ventricular hypertrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic valve insufficiency; aortic valve stenosis; hypertrophy, left ventricular; left ventricular hypertrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; exocrine pancreatic insufficiency; pseudomonas infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; exocrine pancreatic insufficiency; pseudomonas infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; hypertension; hypertension, pulmonary; tricuspid valve insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; hypertension; hypertension, pulmonary; tricuspid valve insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

venous insufficiency Gene Set

From GAD Gene-Disease Associations

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

cystic fibrosis; exocrine pancreatic insufficiency; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; exocrine pancreatic insufficiency; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal insufficiency; autoimmune diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal insufficiency; autoimmune diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal growth retardation; placental insufficiency; pre-eclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal growth retardation; placental insufficiency; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

albuminuria; cardiovascular diseases; diabetes mellitus; hypertension; kidney diseases; renal insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; cardiovascular diseases; diabetes mellitus; hypertension; kidney diseases; renal insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic valve insufficiency; rheumatic diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic valve insufficiency; rheumatic diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

renal insufficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease renal insufficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blepharophimosis; blepharoptosis; pof - premature ovarian failure; primary ovarian insufficiency; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blepharophimosis; blepharoptosis; pof - premature ovarian failure; primary ovarian insufficiency; syndrome 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.

infertility, female; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

exocrine pancreatic insufficiency; pancreatitis, alcoholic; pancreatitis, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease exocrine pancreatic insufficiency; pancreatitis, alcoholic; pancreatitis, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

renal insufficiency Gene Set

From GAD Gene-Disease Associations

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

menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic valve stenosis; calcinosis; mitral valve stenosis; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic valve stenosis; calcinosis; mitral valve stenosis; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 2; diabetic nephropathies; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 2; diabetic nephropathies; renal insufficiency, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney failure; kidney; failure; renal insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney failure; kidney; failure; renal insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amenorrhea; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amenorrhea; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertrophy, left ventricular; left ventricular hypertrophy; mitral valve insufficiency; mitral valve prolapse; ventricular remodeling Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertrophy, left ventricular; left ventricular hypertrophy; mitral valve insufficiency; mitral valve prolapse; ventricular remodeling in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease 46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menopause, premature; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menopause, premature; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; exocrine pancreatic insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; exocrine pancreatic insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insufficiency Gene Set

From GeneRIF Biological Term Annotations

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

Vitamin D insufficiency Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Vitamin D insufficiency phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

venous insufficiency Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the venous insufficiency phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

renal insufficiency Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the renal insufficiency phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

exocrine pancreatic insufficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the exocrine pancreatic insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

velopharyngeal insufficiency Gene Set

From HPO Gene-Disease Associations

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

venous insufficiency Gene Set

From HPO Gene-Disease Associations

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

androgen insufficiency Gene Set

From HPO Gene-Disease Associations

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

pulmonary insufficiency Gene Set

From HPO Gene-Disease Associations

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

primary gonadal insufficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the primary gonadal insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

renal insufficiency Gene Set

From HPO Gene-Disease Associations

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

central adrenal insufficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the central adrenal insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenal insufficiency Gene Set

From HPO Gene-Disease Associations

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

premature delivery because of cervical insufficiency or membrane fragility Gene Set

From HPO Gene-Disease Associations

genes associated with the premature delivery because of cervical insufficiency or membrane fragility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

peripheral vascular insufficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the peripheral vascular insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

primary adrenal insufficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the primary adrenal insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Tricuspid Valve Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Tricuspid Valve Insufficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Primary Ovarian Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Primary Ovarian Insufficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Renal Insufficiency, Acute Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Exocrine Pancreatic Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Exocrine Pancreatic Insufficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Aortic Valve Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Aortic Valve Insufficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Mitral Valve Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Mitral Valve Insufficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Adrenal Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Renal Insufficiency, Chronic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Venous Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Vertebrobasilar Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Placental Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

exocrine pancreatic insufficiency Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the exocrine pancreatic insufficiency phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 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.

adrenocortical insufficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenocortical insufficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) pathway from the Reactome Pathways dataset.

Acute Kidney Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Renal Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Gastrointestinal Tract Vascular Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gastrointestinal Tract Vascular Insufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Vascular Insufficiency Of Intestine Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vascular Insufficiency Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Exocrine Pancreatic Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Aortic Valve Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Chronic Kidney Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Tricuspid Valve Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Mesenteric Vascular Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Secondary Adrenal Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Peripheral Vascular Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Pancreatic Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Placental Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Venous Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Moderate Hepatic Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Adrenocorticotropin Deficient Adrenal Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adrenocorticotropin Deficient Adrenal Insufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Primary Adrenal Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Primary Adrenal Insufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ovarian Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Primary Adrenal Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Acute Vascular Insufficiency Of Intestine (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Vascular Insufficiency Of Intestine (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cerebrovascular Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Velopharyngeal Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Pelvic Insufficiency Fracture Gene Set

From DisGeNET Gene-Disease Associations

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

Chronic Cerebrospinal Venous Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Cerebrospinal Venous Insufficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Venous Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Autoimmune Adrenal Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Convergence Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Adrenal Insufficiency, Congenital Gene Set

From DisGeNET Gene-Disease Associations

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

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Vertebrobasilar Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Arterial Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Adrenal Insufficiency, Nr5A1-Related Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adrenal Insufficiency, Nr5A1-Related in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiovascular Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Insufficiency Of Pulmonary Valve Gene Set

From DisGeNET Gene-Disease Associations

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

Acute Coronary Insufficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Chronic Pulmonary Insufficiency Of Prematurity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Pulmonary Insufficiency Of Prematurity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pulmonary Valve Insufficiency Gene Set

From DisGeNET Gene-Phenotype Associations

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

Mitral Valve Insufficiency Gene Set

From DisGeNET Gene-Phenotype Associations

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

Hepatic Insufficiency Gene Set

From DisGeNET Gene-Phenotype Associations

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

Premature Delivery Because Of Cervical Insufficiency Or Membrane Fragility Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Premature Delivery Because Of Cervical Insufficiency Or Membrane Fragility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Primary Gonadal Insufficiency Gene Set

From DisGeNET Gene-Phenotype Associations

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

exocrine pancreatic insufficiency Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the exocrine pancreatic insufficiency phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Primary ovarian insufficiency Gene Set

From WikiPathways Pathways 2024

proteins participating in the Primary ovarian insufficiency pathway from the WikiPathways Pathways 2024 dataset.

Primary ovarian insufficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Primary ovarian insufficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Primary ovarian insufficiency 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Primary ovarian insufficiency 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Vertebrobasilar insufficiency Gene Set

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

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

Primary ovarian insufficiency Gene Set

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

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

Placental insufficiency Gene Set

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

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

Exocrine pancreatic insufficiency Gene Set

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

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

Pulmonary valve insufficiency Gene Set

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

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

Chronic venous insufficiency Gene Set

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

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

Venous insufficiency Gene Set

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

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

Tricuspid valve insufficiency Gene Set

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

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

Mitral valve insufficiency Gene Set

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

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

Aortic valve insufficiency Gene Set

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

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

Primary ovarian insufficiency 1 Gene Set

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

genes co-occuring with the disease Primary ovarian insufficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Basilar artery insufficiency Gene Set

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

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

Vertebral artery insufficiency Gene Set

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

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

Congenital adrenal insufficiency Gene Set

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

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

Chronic intestinal vascular insufficiency Gene Set

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

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

Acute vascular insufficiency of intestine Gene Set

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

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

Primary ovarian insufficiency 19 Gene Set

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

genes co-occuring with the disease Primary ovarian insufficiency 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Primary ovarian insufficiency 6 Gene Set

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

genes co-occuring with the disease Primary ovarian insufficiency 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pancreatic insufficiency-anemia-hyperostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pancreatic insufficiency-anemia-hyperostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary adrenocortical insufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary adrenocortical insufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital adrenal insufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital adrenal insufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Renal insufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Renal insufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Premature ovarian insufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Premature ovarian insufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PRRT2 insufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PRRT2 insufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Vitamin D insufficiency Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Vitamin D insufficiency phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; protein c deficiency; seizures; stroke; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apnea; apoplexy; blood coagulation disorders; brain ischemia; cerebrovascular disorders; hypotony, muscle; muscle hypotonia; protein c deficiency; seizures; stroke; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

response to muscle activity involved in regulation of muscle adaptation Gene Set

From GO Biological Process Annotations 2015

genes participating in the response to muscle activity involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.

cardiac muscle cell-cardiac muscle cell adhesion Gene Set

From GO Biological Process Annotations 2015

genes participating in the cardiac muscle cell-cardiac muscle cell adhesion biological process from the curated GO Biological Process Annotations 2015 dataset.

skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration Gene Set

From GO Biological Process Annotations 2015

genes participating in the skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration biological process from the curated GO Biological Process Annotations 2015 dataset.

response to muscle inactivity involved in regulation of muscle adaptation Gene Set

From GO Biological Process Annotations 2015

genes participating in the response to muscle inactivity involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.

Muscle-fast muscle cell Gene Set

From Tabula Sapiens Gene-Cell Associations

genes with high or low expression in Muscle-fast muscle cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.

Muscle-skeletal muscle satellite stem cell Gene Set

From Tabula Sapiens Gene-Cell Associations

genes with high or low expression in Muscle-skeletal muscle satellite stem cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.

Muscle-slow muscle cell Gene Set

From Tabula Sapiens Gene-Cell Associations

genes with high or low expression in Muscle-slow muscle cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.

Muscle-smooth muscle cell Gene Set

From Tabula Sapiens Gene-Cell Associations

genes with high or low expression in Muscle-smooth muscle cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.

cardiac muscle cell-cardiac muscle cell adhesion Gene Set

From GO Biological Process Annotations 2023

genes participating in the cardiac muscle cell-cardiac muscle cell adhesion biological process from the curated GO Biological Process Annotations 2023 dataset.

Human - Fetal Development - L2 - Muscle-Skeletal muscle cells Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Fetal Development - L2 - Muscle-Skeletal muscle cells cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Fetal Development - L2 - Muscle-Smooth muscle cells Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Fetal Development - L2 - Muscle-Smooth muscle cells cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

cardiac muscle cell-cardiac muscle cell adhesion Gene Set

From GO Biological Process Annotations 2025

genes participating in the cardiac muscle cell-cardiac muscle cell adhesion biological process from the curated GO Biological Process Annotations 2025 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.

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.

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.

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.

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.

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.

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.

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.

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.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism 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.

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.

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.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to activated protein C resistance 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.

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.

Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect 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.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta 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.

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.

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.

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.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type 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.

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.

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.

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.

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.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype 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.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect 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.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 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.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION 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.

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.

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.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

due Gene Set

From GeneRIF Biological Term Annotations

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

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

self-mutilation of tongue and lips due to involuntary movements Gene Set

From HPO Gene-Disease Associations

genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease 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.

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, familial, due to decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{drug-induced liver injury due to flucloxacillin} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{thrombophilia, susceptibility to, due to factor v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperfibrinolysis, familial, due to increased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Malignant Hyperpyrexia Due To Anesthesia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Functional Diarrhoea (Due To Spastic Colon) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Peripheral Neuropathy Due To And Following Chemotherapy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Viral Gastroenteritis Due To Rotavirus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Alzheimer'S Disease (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Whooping Cough Due To Unspecified Organism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteopenia Due To Disuse Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Scid Due To Ada Deficiency, Early-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Parvoviridae Gene Set

From DisGeNET Gene-Disease Associations

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

Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Addison'S Disease Due To Autoimmunity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Eye Disorder Due To Diabetes Mellitus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ketoacidosis Due To Acute Alcohol Intoxication Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

End Stage Renal Disease Due To Hypertension Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydrops Fetalis Due To Alpha Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Acanthocephala Gene Set

From DisGeNET Gene-Disease Associations

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

Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Antibody Deficiency Due To Defect In Cd19 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Neisseria Gene Set

From DisGeNET Gene-Disease Associations

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

Osteomyelitis Due To Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Hepatitis Due To Cryptosporidium Infection Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Brucella Suis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Recurrent Infections Due To Aspiration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Mycobacterium Kansasii Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydronephrosis Due To Pujo Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Anemia Due To Hexokinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disseminated Due To Other Mycobacteria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Autoimmune Process Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Scoliosis Due To Bony Malformation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Renal Failure Due To Ischemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Parkinson'S Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold And Heat Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Irritant Contact Dermatitis Due To Incontinence Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dermatophilosis Due To Dermatophilus Congolensis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Jaundice Due To Inspissated Bile Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Clostridium Chauvoei Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Developmental And Speech Delay Due To Sox5 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Rhinitis Due To Narrow Nasal Airway Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteomalacia Due To Vitamin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Erythropoietin Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Excess Erythopoetin Production Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Fall In Plasma Volume Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To High Altitude Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Stress Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Orthostatic Hypotension Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Chromosomal Mosaicism Due To Mitotic Instability Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cephalhematoma Due To Birth Trauma Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bowing Of Limbs Due To Multiple Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Restricted Neck Movement Due To Contractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Painless Fractures Due To Injury Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Sweating Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Acanthocytosis Due To Band 3 Ht Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoptosis related network due to altered Notch3 in ovarian cancer Gene Set

From WikiPathways Pathways 2024

proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset.

Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BARD1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to ABCA4 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to LRAT loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1LW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1MW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1SW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH12 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH5 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to STRA6 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Set

From Reactome Pathways 2024

proteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

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

genes co-occuring with the disease Male infertility due to globozoospermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Male infertility due to acephalic spermatozoa Gene Set

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

genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombocytopenia due to platelet alloimmunization Gene Set

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

genes co-occuring with the disease Thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Polyneuropathy due to drug Gene Set

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

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

Congenital muscular dystrophy due to LMNA mutation Gene Set

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

genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set

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

genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to activated protein C resistance Gene Set

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

genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

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

genes co-occuring with the disease Thrombophilia due to thrombin defect 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 muscular dystrophy due to integrin alpha-7 deficiency Gene Set

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

genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

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

genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

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

genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to HRG deficiency Gene Set

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

genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked thrombophilia due to factor IX defect Gene Set

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

genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive thrombophilia due to protein C deficiency Gene Set

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

genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant thrombophilia due to protein C deficiency Gene Set

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

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombomodulin defect Gene Set

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

genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant thrombophilia due to protein S deficiency Gene Set

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

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SCID due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive ataxia due to ubiquinone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to acid maltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to ficolin3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal intrahepatic cholestasis due to citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial hyperthyroidism due to mutations in TSH receptor Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypothyroidism due to TSH receptor mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to TUBA1A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Peroxisome biogenesis disorder due to PEX1 defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a JAG1 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone secretagogue receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Interstitial lung disease due to ABCA3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to LIS1 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to leptin receptor gene deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

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

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to partial GHR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital lipoid adrenal hyperplasia due to STAR deficency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital lipoid adrenal hyperplasia due to STAR deficency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rubinstein-Taybi syndrome due to CREBBP mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hydrocephalus due to aqueductal stenosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hydrocephalus due to aqueductal stenosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to doublecortin gene mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to CD3gamma deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Leigh syndrome due to mitochondrial complex IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to partial RAG1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ZAP70 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to pro-opiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gaucher disease due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Krabbe disease due to saposin A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to melanocortin 4 receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary familial polycythemia due to EPO receptor mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor I resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF1A deficiency 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.

Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to GLUT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to glucokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to LRBA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Epidermolysis bullosa simplex due to plakophilin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to SLC37A4 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to DOCK8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Limb-girdle muscular dystrophy due to POMK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Vasculitis due to ADA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to RTTN deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metabolic myopathy due to lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autism spectrum disorder due to AUTS2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pyogenic bacterial infections due to MyD88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a NOTCH2 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to transcobalamin receptor defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurofibromatosis due to NF1 mutation or intragenic deletion Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ORAI1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to INSR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to CD25 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

DeSanto-Shinawi syndrome due to WAC point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to SIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to XIAP deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to MASP-2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to prohormone convertase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to congenital leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to primary acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to defect in CD3-gamma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to moesin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to adenylate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to OX40 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Myopathy due to calsequestrin and SERCA1 protein overload Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF4A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glutathione reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to MALT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SIN3A-related intellectual disability syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LCK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to a late component of complement deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lactic aciduria due to D-lactic acid Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Recurrent Neisseria infections due to factor D deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Kleefstra syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to CEP19 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pancytopenia due to IKZF1 mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hao-Fountain syndrome due to USP7 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive retinal dystrophy due to retinol transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary immunodeficiency syndrome due to p14 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LAT deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to GINS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital histidine-rich Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Juvenile arthritis due to defect in LA Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurometabolic disorder due to serine deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked acrogigantism due to Xq26 microduplication Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Male infertility due to gonadal dysgenesis or sperm disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Female infertility due to zona pellucida defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

rostral ventral respiratory cell group Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in rostral ventral respiratory cell group relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary myopathy with early respiratory failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial respiratory chain complex ii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex ii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex iv Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex iv cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex i Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex i cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain complex iv Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex iv cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain complex ii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex ii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain complex i Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex i cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

respiratory chain complex iii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex iii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex iii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex iii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex iv Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial respiratory chain complex i Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

respiratory chain complex ii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

plasma membrane respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

respiratory chain complex iv Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial respiratory chain supercomplex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

respiratory chain complex i Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

respiratory chain complex iii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial respiratory chain complex ii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

mitochondrial respiratory chain complex iii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

Respiratory chain complex I, mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I, mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (incomplete NDUFAF1 assembly), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (incomplete NDUFAF1 assembly), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate VII/650kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate VII/650kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (lambda subunit) mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (lambda subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (gamma subunit) mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (gamma subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (beta subunit) mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (beta subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate IV/310kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate IV/310kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (incomplete intermediate), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (incomplete intermediate), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (incomplete intermediate ND1, ND2, ND3, CIA30 assembly), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (incomplete intermediate ND1, ND2, ND3, CIA30 assembly), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (holoenzyme), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (holoenzyme), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate II/230kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate II/230kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (early intermediate NDUFAF1 assembly), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (early intermediate NDUFAF1 assembly), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory Sounds Gene Set

From CTD Gene-Disease Associations

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

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset.

Respiratory Tract Infections Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Tract Infections from the curated CTD Gene-Disease Associations dataset.

Spinal muscular atrophy with respiratory distress 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal muscular atrophy with respiratory distress 1 from the curated CTD Gene-Disease Associations dataset.

Respiratory Tract Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Tract Diseases from the curated CTD Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset.

Respiratory Distress Syndrome, Newborn Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Distress Syndrome, Newborn from the curated CTD Gene-Disease Associations dataset.

Hereditary Myopathy with Early Respiratory Failure Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset.

Respiratory System Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory System Abnormalities from the curated CTD Gene-Disease Associations dataset.

Granuloma, Respiratory Tract Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granuloma, Respiratory Tract from the curated CTD Gene-Disease Associations dataset.

Respiratory Syncytial Virus Infections Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Syncytial Virus Infections from the curated CTD Gene-Disease Associations dataset.

Respiratory Paralysis Gene Set

From CTD Gene-Disease Associations

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

Acidosis, Respiratory Gene Set

From CTD Gene-Disease Associations

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

Respiratory Distress Syndrome, Adult Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Distress Syndrome, Adult from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Respiratory Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Respiratory from the curated CTD Gene-Disease Associations dataset.

Respiratory Hypersensitivity Gene Set

From CTD Gene-Disease Associations

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

Respiratory Function Tests Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Respiratory Function Tests in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

respiratory system disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

lower respiratory tract disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease lower respiratory tract disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

respiratory system disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease respiratory system disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

respiratory system cancer Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease respiratory system cancer in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

lower respiratory tract disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease lower respiratory tract disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

upper respiratory tract disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease upper respiratory tract disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

lower respiratory tract disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

upper respiratory tract disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

respiratory failure Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

respiratory system disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

severe acute respiratory syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

adult respiratory distress syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

newborn respiratory distress syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

respiratory bronchiolitis-associated interstitial lung disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease respiratory bronchiolitis-associated interstitial lung disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

respiratory system benign neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease respiratory system benign neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

neonatal respiratory failure Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

respiratory system cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

respiratory syncytial virus infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory syncytial virus infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory papillomatosis Gene Set

From GAD Gene-Disease Associations

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

gastrointestinal hemorrhage; haematuria; hematuria; henoch-schoenlein purpura; purpura, schoenlein-henoch; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal hemorrhage; haematuria; hematuria; henoch-schoenlein purpura; purpura, schoenlein-henoch; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory function tests Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory function tests in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; prenatal exposure delayed effects; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; prenatal exposure delayed effects; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory hypersensitivity Gene Set

From GAD Gene-Disease Associations

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

pneumonia; respiratory distress syndrome, newborn; sepsis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pneumonia; respiratory distress syndrome, newborn; sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory papillomatosis, juvenile-onset; recurrent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory papillomatosis, juvenile-onset; recurrent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory syncytial virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory syncytial virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchiolitis, viral; respiratory syncytial virus infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchiolitis, viral; respiratory syncytial virus infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases; hypersensitivity; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases; hypersensitivity; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; eczema; food hypersensitivity; hypersensitivity, immediate; respiratory sounds; rhinitis, allergic, seasonal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; eczema; food hypersensitivity; hypersensitivity, immediate; respiratory sounds; rhinitis, allergic, seasonal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sars (severe acute respiratory syndrome) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; hypersensitivity; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; hypersensitivity; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

child nutrition disorders; cystic fibrosis; pseudomonas infections; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease child nutrition disorders; cystic fibrosis; pseudomonas infections; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple organ failure; respiratory distress syndrome, adult; sepsis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple organ failure; respiratory distress syndrome, adult; sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory sounds Gene Set

From GAD Gene-Disease Associations

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

respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prenatal exposure delayed effects; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prenatal exposure delayed effects; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory syncytial virus (rsv) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory syncytial virus (rsv) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute respiratory distress syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute respiratory distress syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; ischemia; recurrence; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; ischemia; recurrence; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; prenatal exposure delayed effects; recurrence; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; prenatal exposure delayed effects; recurrence; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypersensitivity; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypersensitivity; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

occupational diseases; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease occupational diseases; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bacterial infections; recurrence; respiratory tract infections; tuberculosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bacterial infections; recurrence; respiratory tract infections; tuberculosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.