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GTEx Tissue-Specific Aging Signatures DatasetFrom Genotype Tissue Expression Tissue-specific aging signatures createed from GTEx RNA-seq gene expression profiles |
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles DatasetFrom Allen Brain Atlas mRNA expression profiles for dementia and traumatic brain injuries (TBI) from aging brain tissue |
POF1B Genepremature ovarian failure, 1B Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called `POF1` and `POF2` have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010] |
Premature Aging Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Aging Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes; obstetric labor, premature; pre-eclampsia; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes; obstetric labor, premature; pre-eclampsia; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Acroosteolysis-keloid-like lesions-premature aging syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acroosteolysis-keloid-like lesions-premature aging syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Aging, Premature Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aging, Premature from the curated CTD Gene-Disease Associations dataset. |
Aging, Premature Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Aging, Premature phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
premature aging Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature aging phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature aging Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature aging phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
fetal membranes, premature rupture; premature birth; uterine prolapse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal membranes, premature rupture; premature birth; uterine prolapse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal membranes, premature rupture; obstetric labor, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal membranes, premature rupture; obstetric labor, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amenorrhea; ovarian failure, premature; pof - premature ovarian failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amenorrhea; ovarian failure, premature; pof - premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bacterial vaginosis; fetal membranes, premature rupture; obstetric labor, premature; pregnancy complications, infectious; vaginosis, bacterial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bacterial vaginosis; fetal membranes, premature rupture; obstetric labor, premature; pregnancy complications, infectious; vaginosis, bacterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal membranes, premature rupture; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal membranes, premature rupture; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ovarian failure, premature; pof - premature ovarian failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ovarian failure, premature; pof - premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature birth following premature rupture of fetal membranes Gene SetFrom HPO Gene-Disease Associations genes associated with the premature birth following premature rupture of fetal membranes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Premature Birth Following Premature Rupture Of Fetal Membranes Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Birth Following Premature Rupture Of Fetal Membranes in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom 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. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom 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. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom 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. |
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 SetFrom 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. |
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 SetFrom 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. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom 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. |
brugada syndrome; ventricular fibrillation; ventricular premature complexes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; ventricular fibrillation; ventricular premature complexes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blepharophimosis; blepharoptosis; pof - premature ovarian failure; primary ovarian insufficiency; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blepharophimosis; blepharoptosis; pof - premature ovarian failure; primary ovarian insufficiency; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; ovarian failure, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; ovarian failure, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovary syndrome; premature ovarian failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovary syndrome; premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom 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. |
telomeres telomerase cellular aging and immortality Gene SetFrom Biocarta Pathways proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset. |
Aging Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Aging in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
aging traits Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aging traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aging Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aging in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain aging Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain aging in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aging/ telomere length Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aging/ telomere length in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebral aging Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebral aging in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aging and longevity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aging and longevity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
kidney aging Gene SetFrom GAD Gene-Disease Associations genes associated with the disease kidney aging in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; aging Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; aging in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aging Gene SetFrom GAD High Level Gene-Disease Associations genes associated with the disease aging in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. |
aging Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term aging in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
regulation of replicative cell aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of replicative cell aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
replicative cell aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the replicative cell aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
chronological cell aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the chronological cell aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of cell aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of cell aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
multicellular organismal aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the multicellular organismal aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of cell aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of cell aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
cell aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cell aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of cell aging Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of cell aging biological process from the curated GO Biological Process Annotations 2015 dataset. |
Aging (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Aging (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Hippocampal sclerosis of aging Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Hippocampal sclerosis of aging phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Aging traits Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Aging traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Aging Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Aging phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Aging (time to death) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Aging (time to death) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
mortality/aging Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the mortality/aging phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
mortality/aging Gene SetFrom HPO Gene-Disease Associations genes associated with the mortality/aging phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mortality/aging Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the mortality/aging phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
slow aging Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the slow aging phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
aging Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term aging in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Aging Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Aging in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
slow aging Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the slow aging phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
mortality/aging Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the mortality/aging phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
NAD metabolism sirtuins and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the NAD metabolism sirtuins and aging pathway from the WikiPathways Pathways 2024 dataset. |
Somatroph axis GH and its relationship to dietary restriction and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset. |
Caloric restriction and aging Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Caloric restriction and aging pathway from the WikiPathways Pathways 2024 dataset. |
Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hippocampal sclerosis of aging Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hippocampal sclerosis of aging phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Aging (time to death) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aging (time to death) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Aging (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aging (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lateral ventricular volume in normal aging Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Lateral ventricular volume in normal aging phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Aging Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aging phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Aging traits Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aging traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Aging (facial) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Aging (facial) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Differential aging in older adults (frontal cortex) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Differential aging in older adults (frontal cortex) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Differential aging (frontal cortex) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Differential aging (frontal cortex) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Skin aging (microtopography measurement) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Skin aging (microtopography measurement) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Skin aging measurement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Skin aging measurement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
PMC10333092-aging-15-204811-s008.xlsx-Sheet1-Supplementary_Table_7_20_genes_with_the_strongest_protein-protein_interactions_with_the_SP100_family_SP100 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10333092-aging-15-204811-s008.xlsx-Sheet1-Supplementary_Table_7_20_genes_with_the_strongest_protein-protein_interactions_with_the_SP100_family_SP100 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10333092-aging-15-204811-s004.xlsx-Sheet1-Supplementary_Table_3_SP100_family_and_its_400_co-expressed_genes_SP100 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10333092-aging-15-204811-s004.xlsx-Sheet1-Supplementary_Table_3_SP100_family_and_its_400_co-expressed_genes_SP100 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10333092-aging-15-204811-s005.xlsx-Sheet_1-Supplementary_Table_4_Distribution_characteristics_of_400_genes_co-expressed_with_SP100_family_SP100 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10333092-aging-15-204811-s005.xlsx-Sheet_1-Supplementary_Table_4_Distribution_characteristics_of_400_genes_co-expressed_with_SP100_family_SP100 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10258023-aging-15-204743-s002.xlsx-Sheet1-Supplementary_Table_1_p53-DREAM_and_RB_E2F_genes_were_downregulated_in_replicative_and_TNF-α_induced_senescence_KCNIP3 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10258023-aging-15-204743-s002.xlsx-Sheet1-Supplementary_Table_1_p53-DREAM_and_RB_E2F_genes_were_downregulated_in_replicative_and_TNF-α_induced_senescence_KCNIP3 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10120908-aging-15-204623-s002.xlsx-D-NC1_D-NC2--D1_D2_different_ci-Unnamed_1_DR1 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10120908-aging-15-204623-s002.xlsx-D-NC1_D-NC2--D1_D2_different_ci-Unnamed_1_DR1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC9213768-mmc2.xlsx-Aging-Bleo_common_genes-CREB3L1_CREB3L1 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC9213768-mmc2.xlsx-Aging-Bleo_common_genes-CREB3L1_CREB3L1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC9134960-aging-14-204042-s001.docx-0-ATF4_ATF4 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC9134960-aging-14-204042-s001.docx-0-ATF4_ATF4 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7993731-aging-13-202614-s002.docx-1-ATOH8_ATOH8 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7993731-aging-13-202614-s002.docx-1-ATOH8_ATOH8 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7880379-aging-13-202285-s003.xlsx-DElncRNA_target-FEZF1_FEZF1 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7880379-aging-13-202285-s003.xlsx-DElncRNA_target-FEZF1_FEZF1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7288929-aging-12-103203-s002..xlsx-upregulated_by_BCL6-TargetID_BCL6 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7288929-aging-12-103203-s002..xlsx-upregulated_by_BCL6-TargetID_BCL6 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC7288929-aging-12-103203-s002..xlsx-downregulated_by_BCL6-TargetID_BCL6 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC7288929-aging-12-103203-s002..xlsx-downregulated_by_BCL6-TargetID_BCL6 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6949064-aging-11-102579-s001..xlsx-MR-Unnamed_0_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6949064-aging-11-102579-s001..xlsx-MR-Unnamed_0_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6949064-aging-11-102579-s001..xlsx-MR-GSE14520_cohort_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6949064-aging-11-102579-s001..xlsx-MR-GSE14520_cohort_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6949064-aging-11-102579-s001..xlsx-MR-LIHC_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6949064-aging-11-102579-s001..xlsx-MR-LIHC_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6949064-aging-11-102579-s008..xlsx-Regulon-MR_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6949064-aging-11-102579-s008..xlsx-Regulon-MR_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6977700-aging-12-102667-s004..xlsx-Stage1-The_identified_3126_dysregulated_LmiRM-CTs_in_stage_1_of_MI_1_day_of_MI_using_our_method_MITF Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6977700-aging-12-102667-s004..xlsx-Stage1-The_identified_3126_dysregulated_LmiRM-CTs_in_stage_1_of_MI_1_day_of_MI_using_our_method_MITF transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6977700-aging-12-102667-s004..xlsx-Stage2-The_identified_459_dysregulated_LmiRM-CTs_in_stage_2_of_MI_4-6_days_after_MI_using_our_method_MITF Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6977700-aging-12-102667-s004..xlsx-Stage2-The_identified_459_dysregulated_LmiRM-CTs_in_stage_2_of_MI_4-6_days_after_MI_using_our_method_MITF transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6977700-aging-12-102667-s004..xlsx-Stage3-The_identified_641_dysregulated_LmiRM-CTs_in_stage_3_of_MI_1_month_after_MI_using_our_method_MITF Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6977700-aging-12-102667-s004..xlsx-Stage3-The_identified_641_dysregulated_LmiRM-CTs_in_stage_3_of_MI_1_month_after_MI_using_our_method_MITF transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6977700-aging-12-102667-s004..xlsx-Stage4-The_identified_749_dysregulated_LmiRM-CTs_in_stage_4_of_MI_6_months_after_MI_using_our_method_MITF Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6977700-aging-12-102667-s004..xlsx-Stage4-The_identified_749_dysregulated_LmiRM-CTs_in_stage_4_of_MI_6_months_after_MI_using_our_method_MITF transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6977700-aging-12-102667-s006..xlsx-Sheet1-The_identified_1173_dysregulated_LmiRM-CTs_in_MI_using_our_method_MITF Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6977700-aging-12-102667-s006..xlsx-Sheet1-The_identified_1173_dysregulated_LmiRM-CTs_in_MI_using_our_method_MITF transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6977700-aging-12-102667-s006..xlsx-Sheet1-The_identified_941_dysregulated_LmiRM-CTs_in_MI_using_traditional_method_MITF Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6977700-aging-12-102667-s006..xlsx-Sheet1-The_identified_941_dysregulated_LmiRM-CTs_in_MI_using_traditional_method_MITF transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC6046225-aging-10-101485-s002.xlsx-Table_S9_-_Enrichment_of_KD-enrichment_result_of_the_knockdown_experiments_RBPs_were_ranked_according_to_the_p-value_from_the_enrichment_result_AR Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC6046225-aging-10-101485-s002.xlsx-Table_S9_-_Enrichment_of_KD-enrichment_result_of_the_knockdown_experiments_RBPs_were_ranked_according_to_the_p-value_from_the_enrichment_result_AR transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10713402-aging-15-205220-s006.docx-0-HES7_HES7 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10713402-aging-15-205220-s006.docx-0-HES7_HES7 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10713402-aging-15-205220-s005.docx-0-RBAK_RBAK Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10713402-aging-15-205220-s005.docx-0-RBAK_RBAK transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10713402-aging-15-205220-s005.docx-0-FOXG1_FOXG1 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10713402-aging-15-205220-s005.docx-0-FOXG1_FOXG1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC10817411-aging-16-205411-s002.pdf-1-PPARG_PPARG Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC10817411-aging-16-205411-s002.pdf-1-PPARG_PPARG transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11006486-aging-16-205668-s002.pdf-1-HOXC8_HOXC8 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11006486-aging-16-205668-s002.pdf-1-HOXC8_HOXC8 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11042952-aging-16-205690-s002.pdf-0-MYC_MYC Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11042952-aging-16-205690-s002.pdf-0-MYC_MYC transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11042960-aging-16-205711-s002.pdf-186-CC2D1A_CC2D1A Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11042960-aging-16-205711-s002.pdf-186-CC2D1A_CC2D1A transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11042960-aging-16-205711-s002.pdf-316-IKZF2_IKZF2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11042960-aging-16-205711-s002.pdf-316-IKZF2_IKZF2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11042960-aging-16-205711-s002.pdf-320-NFATC1_NFATC1 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11042960-aging-16-205711-s002.pdf-320-NFATC1_NFATC1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11087110-aging-16-205732-s001.pdf-0-NFE2L2_NFE2L2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11087110-aging-16-205732-s001.pdf-0-NFE2L2_NFE2L2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11236317-aging-16-205930-s001.pdf-0-DDIT3_DDIT3 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11236317-aging-16-205930-s001.pdf-0-DDIT3_DDIT3 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11236317-aging-16-205930-s001.pdf-0-CREB3L3_CREB3L3 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11236317-aging-16-205930-s001.pdf-0-CREB3L3_CREB3L3 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11236317-aging-16-205930-s001.pdf-1-CREM_CREM Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11236317-aging-16-205930-s001.pdf-1-CREM_CREM transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11236317-aging-16-205930-s001.pdf-1-MEF2C_MEF2C Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11236317-aging-16-205930-s001.pdf-1-MEF2C_MEF2C transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11236317-aging-16-205930-s001.pdf-1-CREB3_CREB3 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11236317-aging-16-205930-s001.pdf-1-CREB3_CREB3 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11236317-aging-16-205930-s001.pdf-1-CREB3L1_CREB3L1 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11236317-aging-16-205930-s001.pdf-1-CREB3L1_CREB3L1 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11236317-aging-16-205930-s001.pdf-1-TBXT_TBXT Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11236317-aging-16-205930-s001.pdf-1-TBXT_TBXT transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC11272123-aging-16-206008-s001.pdf-0-HOXB2_HOXB2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC11272123-aging-16-206008-s001.pdf-0-HOXB2_HOXB2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC12074813-aging-17-206236-s004.xlsx-WRN-ARID3A_ARID3A Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC12074813-aging-17-206236-s004.xlsx-WRN-ARID3A_ARID3A transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC12074813-aging-17-206236-s004.xlsx-NMNAT3-ARID3A_ARID3A Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC12074813-aging-17-206236-s004.xlsx-NMNAT3-ARID3A_ARID3A transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC12074813-aging-17-206236-s004.xlsx-NMNAT2-ATF2_ATF2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC12074813-aging-17-206236-s004.xlsx-NMNAT2-ATF2_ATF2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
PMC12422825-aging-17-8-206293-s003.xlsx-i_MR_IP-Unnamed_5_NR3C2 Gene SetFrom Rummagene Transcription Factor Associations 2026 target genes of the PMC12422825-aging-17-8-206293-s003.xlsx-i_MR_IP-Unnamed_5_NR3C2 transcription factor from the Rummagene Transcription Factor Associations 2026 dataset. |
Premature coronary artery disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature coronary artery disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Premature ovarian failure 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature ovarian failure 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Premature ovarian failure 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature ovarian failure 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Premature ovarian failure 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature ovarian failure 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Premature ovarian failure 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature ovarian failure 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Premature ovarian failure 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature ovarian failure 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Premature ovarian failure 2b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature ovarian failure 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Premature ovarian failure 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Premature ovarian failure 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ventricular Premature Complexes Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ventricular Premature Complexes from the curated CTD Gene-Disease Associations dataset. |
Infant, Premature, Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Infant, Premature, Diseases from the curated CTD Gene-Disease Associations dataset. |
Premature Birth Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Premature Birth from the curated CTD Gene-Disease Associations dataset. |
Premature Ovarian Failure 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Premature Ovarian Failure 3 from the curated CTD Gene-Disease Associations dataset. |
Premature Ovarian Failure 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Premature Ovarian Failure 5 from the curated CTD Gene-Disease Associations dataset. |
Premature Ovarian Failure 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Premature Ovarian Failure 7 from the curated CTD Gene-Disease Associations dataset. |
Obstetric Labor, Premature Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Obstetric Labor, Premature from the curated CTD Gene-Disease Associations dataset. |
Premature Ovarian Failure 2b Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Premature Ovarian Failure 2b from the curated CTD Gene-Disease Associations dataset. |
Premature Ovarian Failure 2a Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Premature Ovarian Failure 2a from the curated CTD Gene-Disease Associations dataset. |
Premature Ovarian Failure 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Premature Ovarian Failure 6 from the curated CTD Gene-Disease Associations dataset. |
PREMATURE CHROMATID SEPARATION TRAIT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PREMATURE CHROMATID SEPARATION TRAIT from the curated CTD Gene-Disease Associations dataset. |
Preterm Premature Rupture of the Membranes Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preterm Premature Rupture of the Membranes from the curated CTD Gene-Disease Associations dataset. |
premature ovarian failure Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease premature ovarian failure from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
premature ovarian failure Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease premature ovarian failure in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
premature ovarian failure Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease premature ovarian failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
premature menopause Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease premature menopause in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
premature ejaculation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease premature ejaculation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
liver transplant; prostate cancer; premature ovarian failure; lupus nephritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease liver transplant; prostate cancer; premature ovarian failure; lupus nephritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abortion, spontaneous; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abortion, spontaneous; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
idiopathic premature ovarian failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease idiopathic premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal membranes, premature rupture; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal membranes, premature rupture; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature birth; vaginosis, bacterial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature birth; vaginosis, bacterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chorioamnionitis; inflammation; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chorioamnionitis; inflammation; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature ovarian failure; lupus nephritis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature ovarian failure; lupus nephritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; premature pubarche Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; premature pubarche in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; pregnancy complications, cardiovascular; premature birth; stroke Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; pregnancy complications, cardiovascular; premature birth; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature birth; uterine cervical incompetence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature birth; uterine cervical incompetence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; infant, newborn, diseases; infection; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; infant, newborn, diseases; infection; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ovarian failure, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ovarian failure, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; ovarian failure, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; ovarian failure, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infant, premature, diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infant, premature, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal death; pre-eclampsia; pregnancy complications; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal death; pre-eclampsia; pregnancy complications; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cholestasis, intrahepatic; infant, premature, diseases; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cholestasis, intrahepatic; infant, premature, diseases; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature birth; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature birth; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial premature myocardial infarction. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial premature myocardial infarction. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chorioamnionitis; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chorioamnionitis; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infection; inflammation; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infection; inflammation; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature coronary artery disease and familial hypoalphalipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature coronary artery disease and familial hypoalphalipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diseases in twins; obstetric labor, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diseases in twins; obstetric labor, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
breast neoplasms; mammary neoplasms; menopause, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease breast neoplasms; mammary neoplasms; menopause, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemorrhage; placenta diseases; premature birth; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemorrhage; placenta diseases; premature birth; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hearing impairment; hearing loss; infant, premature, diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hearing impairment; hearing loss; infant, premature, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bacterial vaginosis; premature birth; vaginosis, bacterial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bacterial vaginosis; premature birth; vaginosis, bacterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infection; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infection; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature ovarian failure Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pregnancy complications, hematologic; premature birth; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pregnancy complications, hematologic; premature birth; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arrhythmias, cardiac; ventricular premature complexes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arrhythmias, cardiac; ventricular premature complexes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dental plaque; periodontitis; pregnancy complications; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dental plaque; periodontitis; pregnancy complications; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature coronary artery disease. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature coronary artery disease. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal membranes, premature rupture Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal membranes, premature rupture in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
connective tissue diseases; fetal diseases; inflammation; musculoskeletal diseases; pregnancy complications, hematologic; premature birth; skin diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease connective tissue diseases; fetal diseases; inflammation; musculoskeletal diseases; pregnancy complications, hematologic; premature birth; skin diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cerebral hemorrhage; cerebral hemorrhages; cerebral palsy; infant, premature, diseases; leukomalacia, periventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cerebral hemorrhage; cerebral hemorrhages; cerebral palsy; infant, premature, diseases; leukomalacia, periventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature myocardial infarction in men. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature myocardial infarction in men. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chorioamnionitis; infection of amniotic sac and membranes; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chorioamnionitis; infection of amniotic sac and membranes; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovaries and premature male pattern baldness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovaries and premature male pattern baldness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ductus arteriosus, patent; patent ductus arteriosus; premature birth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ductus arteriosus, patent; patent ductus arteriosus; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature coronary heart disease. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature coronary heart disease. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infant, premature, diseases; intracranial hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infant, premature, diseases; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menopause, premature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menopause, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amenorrhea; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amenorrhea; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease 46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic retinopathy; obstetric labor, premature; pre-eclampsia; pregnancy in diabetics Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetic retinopathy; obstetric labor, premature; pre-eclampsia; pregnancy in diabetics in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menopause, premature; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menopause, premature; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bacterial vaginosis; fetal membranes, premature rupture; vaginosis, bacterial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bacterial vaginosis; fetal membranes, premature rupture; vaginosis, bacterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature rupture of membranes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature rupture of membranes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature ovarian failure; primary amenorrhea; secondary amenorrhea Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature ovarian failure; primary amenorrhea; secondary amenorrhea in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature ovarian failure; menopause, early Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature ovarian failure; menopause, early in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature coronary artery disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature coronary artery disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; infant, premature, diseases; respiratory tract diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; infant, premature, diseases; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature ejaculation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature ejaculation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term premature in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Premature aging_Skin fibroblast_GSE10123 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Premature aging_Skin fibroblast_GSE10123 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
stress-induced premature senescence Gene SetFrom GO Biological Process Annotations 2015 genes participating in the stress-induced premature senescence biological process from the curated GO Biological Process Annotations 2015 dataset. |
oxidative stress-induced premature senescence Gene SetFrom GO Biological Process Annotations 2015 genes participating in the oxidative stress-induced premature senescence biological process from the curated GO Biological Process Annotations 2015 dataset. |
premature ovarian failure Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease premature ovarian failure in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
premature eruption of permanent teeth Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the premature eruption of permanent teeth phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
premature ovarian failure Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the premature ovarian failure phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
premature peripheral vascular disease Gene SetFrom HPO Gene-Disease Associations genes associated with the premature peripheral vascular disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature calcification of mitral annulus Gene SetFrom HPO Gene-Disease Associations genes associated with the premature calcification of mitral annulus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature osteoarthritis Gene SetFrom HPO Gene-Disease Associations genes associated with the premature osteoarthritis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
increased rate of premature chromosome condensation Gene SetFrom HPO Gene-Disease Associations genes associated with the increased rate of premature chromosome condensation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature thelarche Gene SetFrom HPO Gene-Disease Associations genes associated with the premature thelarche phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature loss of teeth Gene SetFrom HPO Gene-Disease Associations genes associated with the premature loss of teeth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature graying of hair Gene SetFrom HPO Gene-Disease Associations genes associated with the premature graying of hair phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature birth Gene SetFrom HPO Gene-Disease Associations genes associated with the premature birth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature rupture of membranes Gene SetFrom HPO Gene-Disease Associations genes associated with the premature rupture of membranes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature closure of fontanelles Gene SetFrom HPO Gene-Disease Associations genes associated with the premature closure of fontanelles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature fusion of phalangeal epiphyses Gene SetFrom HPO Gene-Disease Associations genes associated with the premature fusion of phalangeal epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature skin wrinkling Gene SetFrom HPO Gene-Disease Associations genes associated with the premature skin wrinkling phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature separation of centromeric heterochromatin Gene SetFrom HPO Gene-Disease Associations genes associated with the premature separation of centromeric heterochromatin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature loss of permanent teeth Gene SetFrom HPO Gene-Disease Associations genes associated with the premature loss of permanent teeth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature loss of primary teeth Gene SetFrom HPO Gene-Disease Associations genes associated with the premature loss of primary teeth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature ovarian failure Gene SetFrom HPO Gene-Disease Associations genes associated with the premature ovarian failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature arteriosclerosis Gene SetFrom HPO Gene-Disease Associations genes associated with the premature arteriosclerosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature pubarche Gene SetFrom HPO Gene-Disease Associations genes associated with the premature pubarche phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature chromatid separation Gene SetFrom HPO Gene-Disease Associations genes associated with the premature chromatid separation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature delivery because of cervical insufficiency or membrane fragility Gene SetFrom HPO Gene-Disease Associations genes associated with the premature delivery because of cervical insufficiency or membrane fragility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature occlusive vascular disease Gene SetFrom HPO Gene-Disease Associations genes associated with the premature occlusive vascular disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
premature coronary artery disease Gene SetFrom HPO Gene-Disease Associations genes associated with the premature coronary artery disease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Ventricular Premature Complexes Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ventricular Premature Complexes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Infant, Premature, Diseases Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Infant, Premature, Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Premature Birth Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Premature Birth phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Obstetric Labor, Premature Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Obstetric Labor, Premature phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Menopause, Premature Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Menopause, Premature phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ovarian Failure, Premature Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ovarian Failure, Premature phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Fetal Membranes, Premature Rupture Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fetal Membranes, Premature Rupture phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
premature neuronal precursor differentiation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature neuronal precursor differentiation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ventricular premature beat Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ventricular premature beat phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature suture closure Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature suture closure phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature hair loss Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature hair loss phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature intramembranous bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature intramembranous bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature closure of the ductus arteriosus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature closure of the ductus arteriosus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature death Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature death phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
premature endochondral bone ossification Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the premature endochondral bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
pregnancy-related premature death Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the pregnancy-related premature death phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
?premature ovarian failure 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?premature ovarian failure 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
[premature chromatid separation trait] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [premature chromatid separation trait] phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure 2b Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure 2b phenotype from the curated OMIM Gene-Disease Associations dataset. |
{preterm premature rupture of the membranes, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {preterm premature rupture of the membranes, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
premature ovarian failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the premature ovarian failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
Ovarian Failure, Premature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ovarian Failure, Premature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Menopause Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Menopause in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atrial Premature Complexes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atrial Premature Complexes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Occlusive Vascular Stenosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Occlusive Vascular Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Arteriosclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Arteriosclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Osteoarthritis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Osteoarthritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Ovarian Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Ovarian Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Premature Ovarian Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Premature Ovarian Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Centromere Division Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Centromere Division in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Adrenarche Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Adrenarche in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Chromatid Separation Trait Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Chromatid Separation Trait in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Premature Fusion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Premature Fusion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Ovarian Failure, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Premature Ovarian Failure, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Preterm Premature Rupture Of Fetal Membranes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Preterm Premature Rupture Of Fetal Membranes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondylodysplasia And Premature Pubarche Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondylodysplasia And Premature Pubarche in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Premature Coronary Artery Atherosclerosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Coronary Artery Atherosclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Birth Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Birth in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Canities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Canities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Ventricular Contractions Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Ventricular Contractions in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fetal Membranes, Premature Rupture Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fetal Membranes, Premature Rupture in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Tooth Eruption Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Tooth Eruption in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Loss Of Permanent Teeth Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Loss Of Permanent Teeth in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Cardiac Complex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Cardiac Complex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Ejaculation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Ejaculation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Eruption Of Permanent Teeth Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Eruption Of Permanent Teeth in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Chromatid Separation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Chromatid Separation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Tooth Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Tooth Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Obstetric Labor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Obstetric Labor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Delivery Because Of Cervical Insufficiency Or Membrane Fragility Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Delivery Because Of Cervical Insufficiency Or Membrane Fragility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Development Of The Breasts Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Development Of The Breasts in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Graying Of Body Hair Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Graying Of Body Hair in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Separation Of Centromeric Heterochromatin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Separation Of Centromeric Heterochromatin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Calcification Of Mitral Annulus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Calcification Of Mitral Annulus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Increased Rate Of Premature Chromosome Condensation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Increased Rate Of Premature Chromosome Condensation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Fusion Of Phalangeal Epiphyses Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Fusion Of Phalangeal Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Preterm Premature Rupture Of Membranes (Disorder) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Preterm Premature Rupture Of Membranes (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Premature Posterior Fontanelle Closure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Premature Posterior Fontanelle Closure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
oxidative stress-induced premature senescence Gene SetFrom GO Biological Process Annotations 2023 genes participating in the oxidative stress-induced premature senescence biological process from the curated GO Biological Process Annotations 2023 dataset. |
stress-induced premature senescence Gene SetFrom GO Biological Process Annotations 2023 genes participating in the stress-induced premature senescence biological process from the curated GO Biological Process Annotations 2023 dataset. |
premature death Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature death phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature squamoparietal suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature squamoparietal suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature hair loss Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature hair loss phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature closure of the ductus arteriosus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature closure of the ductus arteriosus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature coronal suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature coronal suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
pregnancy-related premature death Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the pregnancy-related premature death phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature cranial suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature cranial suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature sagittal suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature sagittal suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature metopic suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature metopic suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature ovarian failure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature ovarian failure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature acrosome reaction Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature acrosome reaction phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature chondrocyte differentiation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature chondrocyte differentiation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ventricular premature beat Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ventricular premature beat phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature neuronal precursor differentiation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature neuronal precursor differentiation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature endochondral bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature endochondral bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature lambdoid suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature lambdoid suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature intramembranous bone ossification Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature intramembranous bone ossification phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature tooth eruption Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature tooth eruption phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature cranial synchondrosis closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature cranial synchondrosis closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature zygomaticomaxillary suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature zygomaticomaxillary suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature mammary gland growth during pregnancy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature mammary gland growth during pregnancy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature maxillary-premaxillary suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature maxillary-premaxillary suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature suckling reflex loss Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature suckling reflex loss phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature craniofacial suture closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature craniofacial suture closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
premature sphenooccipital synchondrosis closure Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the premature sphenooccipital synchondrosis closure phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Human - Tonsil - L2 - preMature IgG+ PC Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Tonsil - L2 - preMature IgG+ PC cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Tonsil - L2 - preMature IgM+ PC Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Tonsil - L2 - preMature IgM+ PC cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Postmitotic premature neuron_Embryo_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Postmitotic premature neuron_Embryo_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Premature oligodendrocyte_Embryo_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Premature oligodendrocyte_Embryo_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
oxidative stress-induced premature senescence Gene SetFrom GO Biological Process Annotations 2025 genes participating in the oxidative stress-induced premature senescence biological process from the curated GO Biological Process Annotations 2025 dataset. |
Preterm premature rupture of the membranes Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Preterm premature rupture of the membranes in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Premature menopause Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Premature menopause in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Premature ejaculation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Premature ejaculation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Premature ovarian failure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Premature ovarian failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Premature chromatid separation trait Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Premature chromatid separation trait phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Genetic non-acquired premature ovarian failure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genetic non-acquired premature ovarian failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Premature ventricular contraction Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Premature ventricular contraction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Premature ovarian insufficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Premature ovarian insufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Preterm premature rupture of membranes Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Preterm premature rupture of membranes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Premature graying of hair Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Premature graying of hair phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Premature coronary artery atherosclerosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Premature coronary artery atherosclerosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Premature birth Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Premature birth phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Gestational age at birth in premature rupture of membrane-initiated deliveries (maternal effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Gestational age at birth in premature rupture of membrane-initiated deliveries (maternal effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Premature menopause in childhood cancer survivors Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Premature menopause in childhood cancer survivors phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sepsis in extremely premature infants Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sepsis in extremely premature infants phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Spontaneous preterm birth with premature rupture of membranes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Spontaneous preterm birth with premature rupture of membranes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Spontaneous preterm birth without premature rupture of membranes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Spontaneous preterm birth without premature rupture of membranes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Lynch syndrome:Turcot syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom 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 SetFrom 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. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Branchiootic syndrome 3 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beckwith-Wiedemann syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyggve-Melchior-Clausen syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
COACH syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dursun syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knobloch syndrome 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marinesco-Sjögren syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 7 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gordon's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McKusick Kaufman syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiofaciocutaneous syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TARP syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Catel Manzke syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichohepatoenteric syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cockayne syndrome type A Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SHORT syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome xiv Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pachydermoperiostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pachydermoperiostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kartagener syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wagner syndrome Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schinzel-Giedion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bowen-Conradi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bowen-Conradi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ATR-X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ATR-X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Baller-Gerold syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Legius syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Legius syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 9 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Andermann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Michels syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Michels syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stocco dos Santos syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitchell-Riley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prune belly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prune belly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alagille syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alagille syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alagille syndrome 2 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Trichorhinophalangeal syndrome type 3 Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temple-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Boucher Neuhauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Boucher Neuhauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stuve-Wiedemann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stuve-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyendocrine-polyneuropathy syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |