Name

BMIQ8 Gene

body mass index quantitative trait locus 8

BMIQ6 Gene

body mass index QTL 6

BMIQ5 Gene

body mass index QTL 5

BMIQ2 Gene

body mass index QTL 2

BMIQ3 Gene

body mass index QTL 3

BMIQ1 Gene

body mass index QTL 1

BMIQ14 Gene

Body mass index QTL14

BMIQ15 Gene

Body mass index QTL 15

LBMQTL1 Gene

Lean body mass QTL 1

BMIQ13 Gene

Body mass index QTL13

FTO Gene

fat mass and obesity associated

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

FTOP1 Gene

fat mass and obesity associated pseudogene 1

MASS syndrome Gene Set

From CTD Gene-Disease Associations

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

mass syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the mass syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

MASS syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the MASS syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

body mass; leptin; fat mass Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; leptin; fat mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Leg fat mass and leg lean mass (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Leg fat mass and leg lean mass (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Trunk fat mass adjusted for trunk lean mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Trunk fat mass adjusted for trunk lean mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin; lipids; left ventricular hypertrophy; glucose; blood pressure, arterial; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; lipids; left ventricular hypertrophy; glucose; blood pressure, arterial; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome 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.

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.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

High bone mass Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the High bone mass phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 from the curated CTD Gene-Disease Associations dataset.

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 from the curated CTD Gene-Disease Associations dataset.

Body Mass Index Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Body Mass Index in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

higher body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease higher body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; glucocorticoids Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; glucocorticoids in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass diabetes, type 2 glucose insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass diabetes, type 2 glucose insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol, ldl; cholesterol, total; insulin; apob Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol, ldl; cholesterol, total; insulin; apob in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; left ventricular function; blood pressure; left ventricular structure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; left ventricular function; blood pressure; left ventricular structure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; diabetes, type 2; insulin; glucose; hba(1c) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2; insulin; glucose; hba(1c) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; leptin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; leptin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

larger body mass Gene Set

From GAD Gene-Disease Associations

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

fat mass Gene Set

From GAD Gene-Disease Associations

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

body mass index Gene Set

From GAD Gene-Disease Associations

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

body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; hemoglobin a(1c) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; hemoglobin a(1c) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin; glucose Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; glucose in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leptin; fat mass Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leptin; fat mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lipids; left ventricular mass; aortic gradient; aortic valve stenosis Gene Set

From GAD Gene-Disease Associations

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

body mass; triglycerides; blood pressure, arterial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; triglycerides; blood pressure, arterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left ventricular mass; left ventricular wall thickness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left ventricular mass; left ventricular wall thickness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sleep disorders; body mass Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sleep disorders; body mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin; lipids; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; lipids; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; height; weight Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; height; weight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure, arterial; left ventricular mass Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure, arterial; left ventricular mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension and left ventricular mass Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension and left ventricular mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass index and waist circumference Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass index and waist circumference in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lower body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lower body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol; hypertension; glucose tolerance; insulin; blood pressure, arterial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol; hypertension; glucose tolerance; insulin; blood pressure, arterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; glucose tolerance; insulin; lipids; blood pressure, arterial; heart rate; autonomic nervous system Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; glucose tolerance; insulin; lipids; blood pressure, arterial; heart rate; autonomic nervous system in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sleep disorders; schizophrenia; body mass Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sleep disorders; schizophrenia; body mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; adiposity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; adiposity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass (lean) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass (lean) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

combined bone mass Gene Set

From GAD Gene-Disease Associations

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

body mass; glucose tolerance; insulin; blood pressure; c-peptide; hba1c Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; glucose tolerance; insulin; blood pressure; c-peptide; hba1c in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left ventricular mass; renin activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left ventricular mass; renin activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin; glucose; nervous system activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; glucose; nervous system activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; muscle testing; igf-i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; muscle testing; igf-i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipid levels and body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipid levels and body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; diabetes, type 2; insulin; glucose; body fat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2; insulin; glucose; body fat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; diabetes, type 2; energy expenditure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2; energy expenditure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; hypertension; insulin sensitivity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; hypertension; insulin sensitivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left ventricular mass Gene Set

From GAD Gene-Disease Associations

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

plasma cholesterol levels and body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma cholesterol levels and body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; hypertension; insulin; lipids Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; hypertension; insulin; lipids in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass Gene Set

From GAD Gene-Disease Associations

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

body mass; birth weight; height Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; birth weight; height in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; bone density Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; bone density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol; cholesterol, hdl; lipoprotein, ldl; triglycerides Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol; cholesterol, hdl; lipoprotein, ldl; triglycerides in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; glucose; insulin secretion Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; glucose; insulin secretion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoa1; apoa2; fasting blood sugar; fasting blood sugar Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoa1; apoa2; fasting blood sugar; fasting blood sugar in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass index in women. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass index in women. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; muscle testing Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; muscle testing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol, hdl; triglycerides; diabetes, type 2; cholesterol, ldl; hypertension; atherosclerosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol, hdl; triglycerides; diabetes, type 2; cholesterol, ldl; hypertension; atherosclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol, hdl; blood pressure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol, hdl; blood pressure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

minimum lifetime body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease minimum lifetime body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

very low bone mass Gene Set

From GAD Gene-Disease Associations

genes associated with the disease very low bone mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; diabetes, type 2; glucose tolerance; insulin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2; glucose tolerance; insulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bmi. fat mass. and leptin levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bmi. fat mass. and leptin levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fat-free mass and sarcopenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fat-free mass and sarcopenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass (bwt, weight gain, bmi); fertility Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass (bwt, weight gain, bmi); fertility in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; glucose Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; glucose in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; body fat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; body fat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sleep disorders; body mass; blood pressure, arterial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sleep disorders; body mass; blood pressure, arterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; diabetes, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone mass Gene Set

From GAD Gene-Disease Associations

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

decreased bone mass in patients Gene Set

From GAD Gene-Disease Associations

genes associated with the disease decreased bone mass in patients in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; diabetes, type 2; glucose; birth weight Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2; glucose; birth weight in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone mass; osteoporotic fractures Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone mass; osteoporotic fractures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol, hdl; insulin; folate; homocysteine Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol, hdl; insulin; folate; homocysteine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left ventricular mass in male athletes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left ventricular mass in male athletes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol; diabetes, type 2; blood pressure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol; diabetes, type 2; blood pressure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

peak bone mass Gene Set

From GAD Gene-Disease Associations

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

body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin a1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin a1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin sensitivity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin sensitivity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone mineral mass Gene Set

From GAD Gene-Disease Associations

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

body mass; insulin; obesity; glucose Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; obesity; glucose in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; glucose tolerance; insulin; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; glucose tolerance; insulin; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fat free mass Gene Set

From GAD Gene-Disease Associations

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

body mass; cholesterol; triglycerides; blood pressure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol; triglycerides; blood pressure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; cholesterol; cholesterol, hdl; triglycerides; blood pressure; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; cholesterol; cholesterol, hdl; triglycerides; blood pressure; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass index, blood pressure and cholesterol Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass index, blood pressure and cholesterol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; lipids Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; lipids in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mass Gene Set

From GeneRIF Biological Term Annotations

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

inner cell mass cell differentiation Gene Set

From GO Biological Process Annotations 2015

genes participating in the inner cell mass cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset.

inner cell mass cell fate commitment Gene Set

From GO Biological Process Annotations 2015

genes participating in the inner cell mass cell fate commitment biological process from the curated GO Biological Process Annotations 2015 dataset.

inner cell mass cellular morphogenesis Gene Set

From GO Biological Process Annotations 2015

genes participating in the inner cell mass cellular morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.

inner cell mass cell proliferation Gene Set

From GO Biological Process Annotations 2015

genes participating in the inner cell mass cell proliferation biological process from the curated GO Biological Process Annotations 2015 dataset.

Body mass (lean) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass (lean) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Comprehensive strength and appendicular lean mass Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Comprehensive strength and appendicular lean mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Bipolar disorder (body mass index interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Bipolar disorder (body mass index interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass index Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass index phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass index (education interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass index (education interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Left ventricular mass Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Left ventricular mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Fat body mass Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Fat body mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass index and cholesterol (psychopharmacological treatment) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass index and cholesterol (psychopharmacological treatment) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass index (non-asthmatics) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass index (non-asthmatics) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Lipoprotein-associated phospholipase A2 activity and mass Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Lipoprotein-associated phospholipase A2 activity and mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass index (interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass index (interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Body mass index (asthmatics) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Body mass index (asthmatics) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

decreased muscle mass Gene Set

From HPO Gene-Disease Associations

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

increased red blood cell mass Gene Set

From HPO Gene-Disease Associations

genes associated with the increased red blood cell mass phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal pancreatic beta cell mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal pancreatic beta cell mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inner cell mass degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inner cell mass degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cell mass Gene Set

From MPO Gene-Phenotype Associations

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

absent inner cell mass proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner cell mass proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased body mass index Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased body mass index phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased trabecular bone mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased trabecular bone mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased cell mass Gene Set

From MPO Gene-Phenotype Associations

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

abnormal lean body mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal lean body mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased inner cell mass proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased inner cell mass proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased lean body mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased lean body mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner cell mass proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner cell mass proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased pancreatic beta cell mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased pancreatic beta cell mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner cell mass apoptosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner cell mass apoptosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal trabecular bone mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal trabecular bone mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal total tissue mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal total tissue mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased total tissue mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased total tissue mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased trabecular bone mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased trabecular bone mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased total tissue mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased total tissue mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal compact bone mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal compact bone mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal body mass index Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal body mass index phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased body mass index Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased body mass index phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased cell mass Gene Set

From MPO Gene-Phenotype Associations

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

abnormal skeletal muscle mass Gene Set

From MPO Gene-Phenotype Associations

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

decreased bone mass Gene Set

From MPO Gene-Phenotype Associations

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

decreased skeletal muscle mass Gene Set

From MPO Gene-Phenotype Associations

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

abnormal inner cell mass morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner cell mass morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased skeletal muscle mass Gene Set

From MPO Gene-Phenotype Associations

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

decreased compact bone mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased compact bone mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased lean body mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased lean body mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased bone mass Gene Set

From MPO Gene-Phenotype Associations

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

decreased pancreatic beta cell mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased pancreatic beta cell mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent inner cell mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner cell mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal body fat mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal body fat mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased compact bone mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased compact bone mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased inner cell mass apoptosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased inner cell mass apoptosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

[body mass index qtl 15] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl 15] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl1] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl1] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl3] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl3] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl5] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl5] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl16] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl16] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl14] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl14] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl2] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl2] phenotype from the curated OMIM Gene-Disease Associations dataset.

[lean body mass qtl 1] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [lean body mass qtl 1] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl6] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl6] phenotype from the curated OMIM Gene-Disease Associations dataset.

[body mass index qtl13] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [body mass index qtl13] phenotype from the curated OMIM Gene-Disease Associations dataset.

visceral mass Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Adnexal Mass Gene Set

From DisGeNET Gene-Disease Associations

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

Adrenal Mass Gene Set

From DisGeNET Gene-Disease Associations

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

Mass Lesion Of Brain Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mass Lesion Of Brain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mass Of Thyroid Gland Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mass Of Thyroid Gland in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Retroperitoneal Mass Gene Set

From DisGeNET Gene-Disease Associations

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

Intracardiac Mass Gene Set

From DisGeNET Gene-Disease Associations

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

Cervical Mass Gene Set

From DisGeNET Gene-Disease Associations

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

Flank Mass Gene Set

From DisGeNET Gene-Disease Associations

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

Body Mass Index Gene Set

From DisGeNET Gene-Phenotype Associations

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

Lean Body Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

Liver Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

Mass Of Body Region Gene Set

From DisGeNET Gene-Phenotype Associations

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

Mass Lesion Gene Set

From DisGeNET Gene-Phenotype Associations

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

Body Mass Index Procedure Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Body Mass Index Procedure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Body Mass Index Quantitative Trait Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Body Mass Index Quantitative Trait in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Finding Of Body Mass Index Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Finding Of Body Mass Index in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Muscle Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

Soft Tissue Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

Left Ventricular Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

Increased Body Mass Index Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Body Mass Index in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Body Mass Index Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Body Mass Index in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Increased Red Blood Cell Mass Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Red Blood Cell Mass in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pelvic Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

Abdominal Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

High Bone Mass Gene Set

From DisGeNET Gene-Phenotype Associations

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

Body Mass Index, Modifier Of Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Body Mass Index, Modifier Of in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

inner cell mass cell differentiation Gene Set

From GO Biological Process Annotations 2023

genes participating in the inner cell mass cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset.

increased trabecular bone mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased trabecular bone mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased inner cell mass proliferation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased inner cell mass proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased lean body mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased lean body mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased skeletal muscle mass Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent inner cell mass proliferation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent inner cell mass proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal inner cell mass proliferation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal inner cell mass proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased inner cell mass apoptosis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased inner cell mass apoptosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal inner cell mass morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal inner cell mass morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

inner cell mass degeneration Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the inner cell mass degeneration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased bone mass Gene Set

From MGI Mouse Phenotype Associations 2023

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

decreased pancreatic beta cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased pancreatic beta cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased bone mass Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased skeletal muscle mass Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal inner cell mass apoptosis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal inner cell mass apoptosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased lean body mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased lean body mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased body fat mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased body fat mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent inner cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent inner cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased trabecular bone mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased trabecular bone mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased compact bone mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased compact bone mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased white adipose tissue mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased white adipose tissue mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased brown adipose tissue mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased brown adipose tissue mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased pancreatic beta cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased pancreatic beta cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased body mass index Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased body mass index phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased body mass index Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased body mass index phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased pancreatic alpha cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased pancreatic alpha cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased body fat mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased body fat mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased compact bone mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased compact bone mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal brown adipose tissue mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal brown adipose tissue mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal pancreatic alpha cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal pancreatic alpha cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal body fat mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal body fat mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased pancreatic alpha cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased pancreatic alpha cell mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal lean body mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal lean body mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal skeletal muscle mass Gene Set

From MGI Mouse Phenotype Associations 2023

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

decreased total tissue mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased total tissue mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased total tissue mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased total tissue mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal cell mass Gene Set

From MGI Mouse Phenotype Associations 2023

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

increased brown adipose tissue mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased brown adipose tissue mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased white adipose tissue mass Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased white adipose tissue mass phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal body mass index Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal body mass index phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased lean body mass Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the decreased lean body mass phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

increased lean body mass Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the increased lean body mass phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal body fat mass Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal body fat mass phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal lean body mass Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal lean body mass phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

increased skeletal muscle mass Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the increased skeletal muscle mass phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

decreased skeletal muscle mass Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the decreased skeletal muscle mass phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Inner cell mass cell_Embryo_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Inner cell mass cell_Embryo_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Inner cell mass cell_Inner cell mass_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Inner cell mass cell_Inner cell mass_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

inner cell mass cell differentiation Gene Set

From GO Biological Process Annotations 2025

genes participating in the inner cell mass cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset.

Visceral mass Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Buccal mass Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

High bone mass Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the High bone mass phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Body mass index quantitative trait locus Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Body mass index quantitative trait locus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Body mass index Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Normal body mass index vs. thin Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Normal body mass index vs. thin phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Leg fat mass (lean adjusted) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Leg fat mass (lean adjusted) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Leg lean mass (fat adjusted) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Leg lean mass (fat adjusted) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Childhood body mass index Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Childhood body mass index phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Waist-to-hip ratio adjusted for body mass index Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Waist-to-hip ratio adjusted for body mass index phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Waist circumference adjusted for body mass index Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Waist circumference adjusted for body mass index phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (age interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (age interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in gastrointestinal cancer or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in gastrointestinal cancer or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in cancer or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in cancer or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in lung cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in lung cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in gastrointestinal cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in gastrointestinal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in lung cancer or chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in lung cancer or chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) in cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) in cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body fat mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body fat mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lean body mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lean body mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Trunk fat mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Trunk fat mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Bipolar disorder or body mass index Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Bipolar disorder or body mass index phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and systolic blood pressure (bivariate analysis) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and systolic blood pressure (bivariate analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and diastolic blood pressure (bivariate analysis) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and diastolic blood pressure (bivariate analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and HDL-C (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and HDL-C (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and LDL-C (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and LDL-C (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and triglycerides (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and triglycerides (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and fasting insulin (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and fasting insulin (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and fasting glucose (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and fasting glucose (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and type 2 diabetes (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and type 2 diabetes (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and systole blood pressure (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and systole blood pressure (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and coronary artery disease (pairwise) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and coronary artery disease (pairwise) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Bipolar disorder (body mass index interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Bipolar disorder (body mass index interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Fibrinogen levels (smoking status, alcohol consumption or body mass index interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Fibrinogen levels (smoking status, alcohol consumption or body mass index interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass (lean) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass (lean) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (change over time) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (change over time) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (SNP x SNP interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (SNP x SNP interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Fat body mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Fat body mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (alcohol intake interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (alcohol intake interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (dietary energy interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (dietary energy interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (recreational physical activity interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (recreational physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (ever vs never smoking interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (ever vs never smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (smoking years interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (smoking years interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular mass to end-diastolic volume ratio (MTAG) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular mass to end-diastolic volume ratio (MTAG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular mass (MTAG) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular mass (MTAG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular mass to end-diastolic volume ratio Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular mass to end-diastolic volume ratio phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hip bone mineral density and total body fat mass (bivariate analysis) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hip bone mineral density and total body fat mass (bivariate analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lipoprotein-associated phospholipase A2 activity and mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lipoprotein-associated phospholipase A2 activity and mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass in chronic obstructive pulmonary disease Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass in chronic obstructive pulmonary disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Comprehensive strength and appendicular lean mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Comprehensive strength and appendicular lean mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lean body mass and age at menarche (combined) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lean body mass and age at menarche (combined) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and cholesterol (psychopharmacological treatment) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and cholesterol (psychopharmacological treatment) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index in non-asthmatics Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index in non-asthmatics phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index in asthmatics Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index in asthmatics phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (adult) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (adult) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index and waist-hip ratio (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index and waist-hip ratio (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Appendicular lean mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Appendicular lean mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (joint analysis main effects and physical activity interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (joint analysis main effects and physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (joint analysis main effects and smoking interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (joint analysis main effects and smoking interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (physical activity interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (physical activity interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index in physically active individuals Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index in physically active individuals phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index in physically inactive individuals Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index in physically inactive individuals phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (age <50) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (age <50) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index x age interaction Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index x age interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index (age>50) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index (age>50) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index x sex x age interaction (4df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index x sex x age interaction (4df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular mass x antihypertensive treatment interaction Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular mass x antihypertensive treatment interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Multiple sclerosis and body mass index (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Multiple sclerosis and body mass index (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body mass index variance Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body mass index variance phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD 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.

amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic 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.

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome 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.

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral 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.

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome 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.

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.

hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious 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.

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.

hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome 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.

fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence 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.

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome 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.

digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome 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.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma 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.

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

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

insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome 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.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia 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.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

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

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

Branchiootic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 3, with hypocalciuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple synostoses syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sjögren-Larsson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hennekam lymphangiectasia-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UV-sensitive syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib-polydactyly syndrome, Majewski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Char syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fragile X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Shwachman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Greig cephalopolysyndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Fraser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Needles syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiootorenal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PTEN hamartoma tumor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lesch-Nyhan syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculofaciocardiodental syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow Sorauf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

17q2131 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly/autism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mohr-Tranebjaerg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopenic nonfracture syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Barakat syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Raine syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Digitorenocerebral syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Alstrom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperinsulinism-hyperammonemia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal multiple pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MORM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Upshaw-Schulman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Martsolf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome 2q32-q33 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Blepharophimosis-ptosis-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Borrone Di Rocco Crovato syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hurler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angelman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lig4 syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rubinstein-Taybi syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hajdu-Cheney syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperferritinemia cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temtamy preaxial brachydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperimmunoglobulin E syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bannayan-Riley-Ruvalcaba syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chudley-McCullough syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poretti-boltshauser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bosch-boonstra-schaaf optic atrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frank Ter Haar syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Androgen resistance syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoparathyroidism retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holt-Oram syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Duane syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Young Simpson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frasier syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meier-Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pili torti-deafness syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carpenter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Duane-radial ray syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

22q133 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa-corneal clouding-oligophrenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TNF receptor-associated periodic fever syndrome (TRAPS) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Waardenburg syndrome type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Steel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome 1q43-q44 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Roberts-SC phocomelia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bloom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

McLeod neuroacanthocytosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nicolaides-Baraitser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nager syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chédiak-Higashi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kindler's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnevale syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kenny syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Episodic pain syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rienhoff syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Weaver syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Siderius X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kohlschutter's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with marfanoid habitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebro-oculo-facio-skeletal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis-lymphedema-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEOPARD syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Treacher collins syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wiskott-Aldrich syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Episodic pain syndrome, familial, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyper-IgE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tourette Syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, macrosomia, facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome antenatal type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome antenatal type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamstorp-Wohlfart syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyaline fibromatosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Weill-Marchesani-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Netherton syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 4b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Feingold syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Waardenburg syndrome type 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Richieri Costa Pereira syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune lymphoproliferative syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, fast-channel Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wilson-Turner X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Costello syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ochoa syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bruck syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bruck syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Achalasia-alacrima syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cryptophthalmos syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nijmegen breakage syndrome-like disorder Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nijmegen breakage syndrome-like disorder 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.

Brugada syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ovarian hyperstimulation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otofaciocervical syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kaufman oculocerebrofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiooculofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Karak syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky Pudlak syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tarsal carpal coalition syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jankovic Rivera syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nakajo syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome Xq28 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi-Bickel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

short QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Smith-Lemli-Opitz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome progeroid type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Larsen syndrome, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, musculocontractural type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temtamy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birk Barel mental retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alport syndrome, X-linked recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenomatous polyposis coli:Gardner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leprechaunism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Simpson-Golabi-Behmel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

XFE progeroid syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 5 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.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dysequilibrium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atypical hemolytic-uremic syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atypical hemolytic-uremic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Johanson-Blizzard syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GRACILE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked lymphoproliferative syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kowarski syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ADULT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel-Gruber syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked lymphoproliferative syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutrophil immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coffin-Lowry syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, hydroxylysine-deficient Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pierson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pfeiffer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tricho-dento-osseous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mowat-Wilson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jensen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Werner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aarskog syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enamel-renal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple synostoses syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Popliteal pterygium syndrome lethal type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Keutel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple pterygium syndrome Escobar type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins-like syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins-like syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stiff skin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lenz microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall/Stickler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schwartz Jampel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Grebe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Saethre-Chotzen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Floating-Harbor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osler hemorrhagic telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wieacker syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kabuki make-up syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cohen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oligodontia-colorectal cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Filippi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primrose syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall-Smith syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brittle cornea syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rotor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oral-facial-digital syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocallosal syndrome, Schinzel type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gray platelet syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mast syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meacham syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stormorken syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Opitz-Frias syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardio-facio-cutaneous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Yunis Varon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cowden syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mulibrey nanism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ohdo syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, idiopathic, steroid-resistant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Townes-Brocks-branchiootorenal-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SeSAME syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Odontotrichomelic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome, type 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lowe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, type 7B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, musculocontractural type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van Maldergem syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bone marrow failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distichiasis-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Townes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neu-Laxova syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Winchester syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Unverricht-Lundborg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Verheij syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Allan-Herndon-Dudley syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Advanced sleep phase syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Arterial tortuosity syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Papillon-Lefèvre syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brown-vialetto-van laere syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peters plus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulnar-mammary syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beckwith-Wiedemann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van Maldergem Wetzburger Verloes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sotos' syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyggve-Melchior-Clausen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Baraitser-Winter Syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Three M syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Howel-Evans syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rhabdoid tumor predisposition syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tatton-Brown-rahman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

COACH syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib polydactyly syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib polydactyly syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enhanced s-cone syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acquired long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van der Woude syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sudden infant death syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dursun syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carpenter syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Li-Fraumeni syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Haim-Munk syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knobloch syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbohydrate-deficient glycoprotein syndrome type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Advanced sleep phase syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jarcho-Levin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kabuki syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Reynolds syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Reynolds syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Joubert syndrome 12/15, digenic Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Serkal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marinesco-Sjögren syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neu-laxova syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urofacial syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gordon's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arts syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

McKusick Kaufman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the McKusick Kaufman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rubinstein-Taybi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

FG syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyglandular autoimmune syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis renal dysfunction cholestasis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis renal dysfunction cholestasis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

EEM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiofaciocutaneous syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TARP syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the TARP syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Drash syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Drash syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pallister-Hall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pallister-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Radial aplasia-thrombocytopenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Radial aplasia-thrombocytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Griscelli syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Griscelli syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Griscelli syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Griscelli syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caudal regression syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Catel Manzke syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichohepatoenteric syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cockayne syndrome type A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cockayne syndrome type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warsaw breakage syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warsaw breakage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Popliteal pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SHORT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bainbridge-Ropers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome xiv Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome xiv phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome, French Canadian type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pachydermoperiostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pachydermoperiostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Crouzon syndrome with acanthosis nigricans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Crouzon syndrome with acanthosis nigricans 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.

Nance-Horan syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nance-Horan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple mitochondrial dysfunctions syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple mitochondrial dysfunctions syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple mitochondrial dysfunctions syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple mitochondrial dysfunctions syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Saethre-Chotzen syndrome with eyelid anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Saethre-Chotzen syndrome with eyelid anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gerstmann-Straussler-Scheinker syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gerstmann-Straussler-Scheinker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Curry-Hall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Curry-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Familial multiple polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kartagener syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kartagener syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Donnai Barrow syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Donnai Barrow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Klippel-Feil syndrome 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dubin-Johnson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dubin-Johnson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Riddle syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Riddle syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cold-induced sweating syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cold-induced sweating syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oto-palato-digital syndrome, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oto-palato-digital syndrome, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cockayne syndrome, type B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wagner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wagner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schinzel-Giedion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bowen-Conradi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bowen-Conradi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ATR-X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ATR-X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gardner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Baller-Gerold syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Baller-Gerold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylocarpotarsal synostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylocarpotarsal synostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LONG QT SYNDROME 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LONG QT SYNDROME 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal coloboma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal coloboma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Menkes kinky-hair syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Legius syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Legius syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Andermann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Andermann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Michels syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Michels syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stocco dos Santos syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stocco dos Santos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sotos syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sotos syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lenz-Majewski hyperostosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lenz-Majewski hyperostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Axenfeld-Rieger syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Axenfeld-Rieger syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Axenfeld-Rieger syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Axenfeld-Rieger syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitchell-Riley syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitchell-Riley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tietz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prune belly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prune belly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alagille syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alagille syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alagille syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alagille syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mosaic variegated aneuploidy syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mosaic variegated aneuploidy syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Christianson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Christianson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Histiocytosis-lymphadenopathy plus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Histiocytosis-lymphadenopathy plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin fragility woolly hair syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin fragility woolly hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia-focal epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylocheirodysplasia, Ehlers-Danlos syndrome-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Three M syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Three M syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symphalangism-brachydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Symphalangism-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rhabdoid tumor predisposition syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhabdoid tumor predisposition syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Treacher collins syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Treacher collins syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichorhinophalangeal syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichorhinophalangeal syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enlarged vestibular aqueduct syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enlarged vestibular aqueduct syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temple-Baraitser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Temple-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Boucher Neuhauser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Boucher Neuhauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stuve-Wiedemann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stuve-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyendocrine-polyneuropathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyendocrine-polyneuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adams-Oliver syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adams-Oliver syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adams-Oliver syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adams-Oliver syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adams-Oliver syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adams-Oliver syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adams-Oliver syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adams-Oliver syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune lymphoproliferative syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune lymphoproliferative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perry syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Freeman-Sheldon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Freeman-Sheldon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adams-Oliver syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adams-Oliver syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly-capillary malformation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Roussy-Lévy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Roussy-Lévy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

atypical hemolytic-uremic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the atypical hemolytic-uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA-depletion syndrome 3, hepatocerebral Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA-depletion syndrome 3, hepatocerebral phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renpenning syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renpenning syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pendred's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pendred's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

FG syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the FG syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cocoon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cocoon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hennekam lymphangiectasia-lymphedema syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hennekam lymphangiectasia-lymphedema syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bare lymphocyte syndrome type 2, complementation group E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bare lymphocyte syndrome type 2, complementation group E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bare lymphocyte syndrome type 2, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bare lymphocyte syndrome type 2, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Borjeson-Forssman-Lehmann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Borjeson-Forssman-Lehmann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rothmund-Thomson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rothmund-Thomson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome, type 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome, type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Activated PI3K-delta syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Activated PI3K-delta syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Snyder Robinson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Snyder Robinson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Weill-Marchesani syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weill-Marchesani syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.