general adaptation syndrome

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Results for "general adaptation syndrome": 51 genes, 1001 gene sets

Name
GTF3AP1 Gene general transcription factor IIIA pseudogene 1
GTF3AP6 Gene general transcription factor IIIA pseudogene 6
GTF3AP4 Gene general transcription factor IIIA pseudogene 4
GTF3AP5 Gene general transcription factor IIIA pseudogene 5
GTF2F2P1 Gene general transcription factor IIF, polypeptide 2 pseudogene 1
GTF2F2P2 Gene general transcription factor IIF, polypeptide 2 pseudogene 2
LOC642929 Gene general transcription factor II, i pseudogene
GTF2H3 Gene general transcription factor IIH, polypeptide 3, 34kDa This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
GTF2H2 Gene general transcription factor IIH, polypeptide 2, 44kDa This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]
GTF2H1 Gene general transcription factor IIH, polypeptide 1, 62kDa Enables nuclear thyroid hormone receptor binding activity. Involved in positive regulation of DNA-templated transcription and transcription initiation at RNA polymerase II promoter. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Mar 2025]
GTF2H5 Gene general transcription factor IIH, polypeptide 5 This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
GTF2H4 Gene general transcription factor IIH, polypeptide 4, 52kDa Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in nuclear speck. Part of core TFIIH complex portion of holo TFIIH complex and transcription factor TFIID complex. [provided by Alliance of Genome Resources, Mar 2025]
GTF2A1L Gene general transcription factor IIA, 1-like The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]
GTF3C1 Gene general transcription factor IIIC, polypeptide 1, alpha 220kDa Enables RNA polymerase III general transcription initiation factor activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and transcription initiation at RNA polymerase III promoter. Located in nucleolus and nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Mar 2025]
GTF3C6 Gene general transcription factor IIIC, polypeptide 6, alpha 35kDa RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008]
GTF3C5 Gene general transcription factor IIIC, polypeptide 5, 63kDa Enables RNA polymerase III general transcription initiation factor activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III and tRNA transcription by RNA polymerase III. Predicted to act upstream of or within skeletal muscle cell differentiation. Located in nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Mar 2025]
GTF3C4 Gene general transcription factor IIIC, polypeptide 4, 90kDa Enables RNA polymerase III general transcription initiation factor activity and histone H3K14 acetyltransferase activity. Predicted to be involved in 5S class rRNA transcription by RNA polymerase III; tRNA transcription by RNA polymerase III; and transcription initiation at RNA polymerase III promoter. Located in mitochondrion and nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Mar 2025]
GTF2IP1 Gene general transcription factor IIi pseudogene 1
GTF2IP3 Gene general transcription factor IIi pseudogene 3
GTF2IP2 Gene general transcription factor IIi pseudogene 2
GTF2IP5 Gene general transcription factor IIi pseudogene 5
GTF2IP4 Gene general transcription factor IIi, pseudogene 4
GTF2IP6 Gene general transcription factor IIi pseudogene 6
GRASP Gene GRP1 (general* receptor for phosphoinositides 1)-associated scaffold protein* This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]
GTF2F1 Gene general transcription factor IIF, polypeptide 1, 74kDa Enables several functions, including RNA polymerase II general transcription initiation factor activity; phosphatase activator activity; and promoter-specific chromatin binding activity. Involved in positive regulation of transcription by RNA polymerase II; response to virus; and transcription by RNA polymerase II. Located in cell junction and nucleoplasm. Part of transcription factor TFIID complex and transcription factor TFIIF complex. [provided by Alliance of Genome Resources, Mar 2025]
GTF2F2 Gene general transcription factor IIF, polypeptide 2, 30kDa Predicted to enable RNA polymerase II general transcription initiation factor activity. Involved in positive regulation of transcription by RNA polymerase II; transcription elongation by RNA polymerase II; and transcription initiation at RNA polymerase II promoter. Located in microtubule cytoskeleton and nucleoplasm. Part of transcription factor TFIIF complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100129001 Gene general transcription factor IIIC, polypeptide 6, alpha 35kDa pseudogene
GTF2IP20 Gene general transcription factor IIi pseudogene 20
GTF3A Gene general transcription factor IIIA The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]
GTF2H2B Gene general transcription factor IIH, polypeptide 2B (pseudogene)
GCN1L1 Gene GCN1 general* control of amino-acid synthesis 1-like 1 (yeast)* Enables several functions, including protein kinase regulator activity; stalled ribosome sensor activity; and ubiquitin-protein transferase regulator activity. Involved in protein-RNA covalent cross-linking repair. Located in cytosol. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Mar 2025]
GTF2A1 Gene general transcription factor IIA, 1, 19/37kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]
GTF2A2 Gene general transcription factor IIA, 2, 12kDa Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008]
LOC100422440 Gene general transcription factor IIE, polypeptide 2, beta 34kDa pseudogene
GTF2IP8 Gene general transcription factor IIi pseudogene 8
LOC100128441 Gene general transcription factor IIA, 2, 12kDa pseudogene
LOC342784 Gene general transcription factor IIH, polypeptide 1, 62kDa pseudogene
LOC644563 Gene general transcription factor IIIC, polypeptide 6, alpha 35kDa pseudogene
GTF3C3 Gene general transcription factor IIIC, polypeptide 3, 102kDa The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GTF3C2 Gene general transcription factor IIIC, polypeptide 2, beta 110kDa Enables RNA polymerase III general transcription initiation factor activity. Contributes to DNA binding activity. Involved in transcription by RNA polymerase III. Located in nucleoplasm. Part of transcription factor TFIIIC complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100422334 Gene general transcription factor IIH, polypeptide 3, 34kDa pseudogene
LOC101930122 Gene general transcription factor II-I-like
GTF2E1 Gene general transcription factor IIE, polypeptide 1, alpha 56kDa Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Part of transcription factor TFIID complex. [provided by Alliance of Genome Resources, Mar 2025]
GTF2E2 Gene general transcription factor IIE, polypeptide 2, beta 34kDa The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]
LOC646745 Gene general transcription factor IIIC, polypeptide 6, alpha 35kDa pseudogene
GTF2B Gene general transcription factor IIB This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008]
GTF2I Gene general transcription factor IIi This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
GTF2IP12 Gene general transcription factor IIi pseudogene 12
GTF2IP9 Gene general transcription factor IIi pseudogene 9
GTF2IP13 Gene general transcription factor IIi pseudogene 13
GTF2IP23 Gene general transcription factor IIi pseudogene 23
general adaptation syndrome Gene Set From GO Biological Process Annotations 2015 genes participating in the general adaptation syndrome biological process from the curated GO Biological Process Annotations 2015 dataset.
general adaptation syndrome, behavioral process Gene Set From GO Biological Process Annotations 2015 genes participating in the general adaptation syndrome, behavioral process biological process from the curated GO Biological Process Annotations 2015 dataset.
general Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term general in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
General substrate transporter Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the General substrate transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.
abc transporters general Gene Set From KEGG Pathways proteins participating in the abc transporters general pathway from the KEGG Pathways dataset.
General transcription by RNA polymerase I Gene Set From PANTHER Pathways proteins participating in the General transcription by RNA polymerase I pathway from the PANTHER Pathways dataset.
General transcription regulation Gene Set From PANTHER Pathways proteins participating in the General transcription regulation pathway from the PANTHER Pathways dataset.
General Paralysis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease General Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
General Disorders And Administration Site Conditions Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease General Disorders And Administration Site Conditions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
General Discomfort Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype General Discomfort in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
RNA polymerase III general transcription initiation factor binding Gene Set From GO Molecular Function Annotations 2023 genes performing the RNA polymerase III general transcription initiation factor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
general transcription initiation factor binding Gene Set From GO Molecular Function Annotations 2023 genes performing the general transcription initiation factor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
RNA polymerase II general transcription initiation factor binding Gene Set From GO Molecular Function Annotations 2023 genes performing the RNA polymerase II general transcription initiation factor binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
Human - Lung v2 (HLCA) - L4 - EC general capillary Gene Set From HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Lung v2 (HLCA) - L4 - EC general capillary cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
Human - Lung v2 (HLCA) - Finest - EC general capillary Gene Set From HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Lung v2 (HLCA) - Finest - EC general capillary cell type from the HuBMAP Azimuth Cell Type Annotations dataset.
General adipocyte_Aorta_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the General adipocyte_Aorta_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
General proximal cell_Kidney_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the General proximal cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
General capillary cell_Capillary_Mouse Gene Set From CellMarker Gene-Cell Type Associations genes associated with the General capillary cell_Capillary_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.
General capillary cell_Capillary_Human Gene Set From CellMarker Gene-Cell Type Associations genes associated with the General capillary cell_Capillary_Human cell type from the CellMarker Gene-Cell Type Associations dataset.
Respiratory system_CT1_CAP1 general capillary gCap Gene Set From HuBMAP ASCT+B Annotations biomarker genes for the Respiratory system_CT1_CAP1 general capillary gCap cell type from the HuBMAP ASCT+B dataset.
Respiratory system_CT1_CAP1 general capillary gCap Gene Set From HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Respiratory system_CT1_CAP1 general capillary gCap cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset.
RNA polymerase III general transcription initiation factor binding Gene Set From GO Molecular Function Annotations 2025 genes performing the RNA polymerase III general transcription initiation factor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
general transcription initiation factor binding Gene Set From GO Molecular Function Annotations 2025 genes performing the general transcription initiation factor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
RNA polymerase II general transcription initiation factor binding Gene Set From GO Molecular Function Annotations 2025 genes performing the RNA polymerase II general transcription initiation factor binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
General cognitive ability Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the General cognitive ability phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
General factor of neuroticism Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the General factor of neuroticism phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
General glucose level in pregnancy (gestational week 30-32) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the General glucose level in pregnancy (gestational week 30-32) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
General risk tolerance (MTAG) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the General risk tolerance (MTAG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
altitude adaptation Gene Set From GAD Gene-Disease Associations genes associated with the disease altitude adaptation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adaptation Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term adaptation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
smooth muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the smooth muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
adaptation of rhodopsin mediated signaling Gene Set From GO Biological Process Annotations 2015 genes participating in the adaptation of rhodopsin mediated signaling biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of skeletal muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of skeletal muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
response to muscle activity involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the response to muscle activity involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
response to injury involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the response to injury involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
skeletal muscle fiber adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the skeletal muscle fiber adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
skeletal muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the skeletal muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
negative adaptation of signaling pathway Gene Set From GO Biological Process Annotations 2015 genes participating in the negative adaptation of signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
response to stimulus involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the response to stimulus involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
response to electrical stimulus involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the response to electrical stimulus involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
response to denervation involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the response to denervation involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
response to muscle inactivity involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the response to muscle inactivity involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
striated muscle adaptation Gene Set From GO Biological Process Annotations 2015 genes participating in the striated muscle adaptation biological process from the curated GO Biological Process Annotations 2015 dataset.
adaptation of signaling pathway Gene Set From GO Biological Process Annotations 2015 genes participating in the adaptation of signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.
delayed dark adaptation Gene Set From MPO Gene-Phenotype Associations gene mutations causing the delayed dark adaptation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal odor adaptation Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal odor adaptation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
[hemoglobin, high altitude adaptation] Gene Set From OMIM Gene-Disease Associations genes associated with the [hemoglobin, high altitude adaptation] phenotype from the curated OMIM Gene-Disease Associations dataset.
Delayed Dark Adaptation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Delayed Dark Adaptation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
response to denervation involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the response to denervation involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of skeletal muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of skeletal muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
negative adaptation of signaling pathway Gene Set From GO Biological Process Annotations 2023 genes participating in the negative adaptation of signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
skeletal muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the skeletal muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2023 dataset.
adaptation of signaling pathway Gene Set From GO Biological Process Annotations 2023 genes participating in the adaptation of signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.
delayed dark adaptation Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed dark adaptation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal odor adaptation Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal odor adaptation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
response to denervation involved in regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the response to denervation involved in regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of skeletal muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of skeletal muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
negative adaptation of signaling pathway Gene Set From GO Biological Process Annotations 2025 genes participating in the negative adaptation of signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
skeletal muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the skeletal muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of cardiac muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of cardiac muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of muscle adaptation Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of muscle adaptation biological process from the curated GO Biological Process Annotations 2025 dataset.
adaptation of signaling pathway Gene Set From GO Biological Process Annotations 2025 genes participating in the adaptation of signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.
High altitude adaptation Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the High altitude adaptation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set From GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Lynch syndrome:Turcot syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome and Noonan-related syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marfan's syndrome:Marfan's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
IFAP syndrome with or without BRESHECK syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome I:Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set From GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cornelia de lange syndrome; de lange syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set From GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set From GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set From GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set From GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set From GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
restless legs syndrome; tourette syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set From GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set From GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
behcet syndrome; uveomeningoencephalitic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
melas syndrome; merrf syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set From GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set From GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
angelman syndrome; rett syndrome; seizures Gene Set From GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set From GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set From GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set From GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
metabolic syndrome ; metabolic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
digeorge syndrome; pharyngeal pouch; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set From GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set From GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set From GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set From GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set From GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set From GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
down syndrome; ehlers-danlos syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set From GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set From GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
heart-hand syndrome, holt-oram syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set From GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set From GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set From GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set From OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.
ifap syndrome with or without bresheck syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Crouzon syndrome-acanthosis nigricans syndrome Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Crouzon syndrome-acanthosis nigricans syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Noonan syndrome and Noonan-related syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Crouzon syndrome-acanthosis nigricans syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
visceral fat deposits and the metabolic syndrome Gene Set From Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.
Branchiootic syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome, type 3, with hypocalciuria Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple synostoses syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sjögren-Larsson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hennekam lymphangiectasia-lymphedema syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
UV-sensitive syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Foveal hypoplasia and presenile cataract syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short rib-polydactyly syndrome, Majewski type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Char syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fragile X syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Shwachman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Greig cephalopolysyndactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Melnick-Fraser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marfan's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Melnick-Needles syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Branchiootorenal syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
PTEN hamartoma tumor syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lesch-Nyhan syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculofaciocardiodental syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow Sorauf syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
17q2131 microdeletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Desbuquois syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Macrocephaly/autism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mohr-Tranebjaerg syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopenic nonfracture syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Barakat syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Raine syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Digitorenocerebral syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ataxia-telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alport syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alstrom syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperinsulinism-hyperammonemia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome II Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal multiple pterygium syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MORM syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Upshaw-Schulman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1C Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1F Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Martsolf syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1D Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1J Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome 2q32-q33 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Blepharophimosis-ptosis-intellectual disability syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Borrone Di Rocco Crovato syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hurler syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Angelman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lig4 syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rubinstein-Taybi syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hajdu-Cheney syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperferritinemia cataract syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Temtamy preaxial brachydactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperimmunoglobulin E syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bannayan-Riley-Ruvalcaba syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chudley-McCullough syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Poretti-boltshauser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bosch-boonstra-schaaf optic atrophy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Frank Ter Haar syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Androgen resistance syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypoparathyroidism retardation dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Holt-Oram syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Duane syndrome type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Young Simpson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Frasier syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
C-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pili torti-deafness syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gorlin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marshall syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 2C Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 2D Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carpenter syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Duane-radial ray syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 19 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
22q133 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutis laxa-corneal clouding-oligophrenia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
TNF receptor-associated periodic fever syndrome (TRAPS) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Waardenburg syndrome type 2A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Steel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome 1q43-q44 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Roberts-SC phocomelia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bloom syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
McLeod neuroacanthocytosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebrooculofacioskeletal syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebrooculofacioskeletal syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nicolaides-Baraitser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nager syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chédiak-Higashi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kindler's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carnevale syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kenny syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Episodic pain syndrome, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rienhoff syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 2A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Weaver syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia/short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Siderius X-linked mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kohlschutter's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked mental retardation with marfanoid habitus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebro-oculo-facio-skeletal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypotrichosis-lymphedema-telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
LEOPARD syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Treacher collins syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wiskott-Aldrich syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Episodic pain syndrome, familial, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyper-IgE syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tourette Syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome antenatal type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome antenatal type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gamstorp-Wohlfart syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Turcot syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sick sinus syndrome 2, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyaline fibromatosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Weill-Marchesani-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Netherton syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome, type 4b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Feingold syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Knuckle pads, deafness AND leukonychia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Waardenburg syndrome type 4B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Richieri Costa Pereira syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune lymphoproliferative syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bartter syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, fast-channel Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wilson-Turner X-linked mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Costello syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ochoa syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bruck syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bruck syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Achalasia-alacrima syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cryptophthalmos syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nijmegen breakage syndrome-like disorder Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ovarian hyperstimulation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Otofaciocervical syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kaufman oculocerebrofacial syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Branchiooculofacial syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Karak syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky Pudlak syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tarsal carpal coalition syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jankovic Rivera syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nakajo syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome Xq28 deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fanconi-Bickel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
short QT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Smith-Lemli-Opitz syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Von Hippel-Lindau syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 1G Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome progeroid type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Larsen syndrome, dominant type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, musculocontractural type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Temtamy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Birk Barel mental retardation dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alport syndrome, X-linked recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, X-linked recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphosphatasia with mental retardation syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adenomatous polyposis coli:Gardner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jervell and Lange-Nielsen syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal congenital contracture syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leprechaunism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Simpson-Golabi-Behmel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
XFE progeroid syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome type 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex I deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dysequilibrium syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atypical hemolytic-uremic syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atypical hemolytic-uremic syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Johanson-Blizzard syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
GRACILE syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked lymphoproliferative syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kowarski syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
ADULT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel-Gruber syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked lymphoproliferative syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neutrophil immunodeficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Coffin-Lowry syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Auriculocondylar syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Auriculocondylar syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Auriculocondylar syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pierson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pfeiffer syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tricho-dento-osseous syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mowat-Wilson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perrault syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perrault syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jensen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Werner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aarskog syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enamel-renal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 21 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 20 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 22 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple synostoses syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Popliteal pterygium syndrome lethal type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Keutel syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pitt-Hopkins syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Segawa syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple pterygium syndrome Escobar type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pitt-Hopkins-like syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pitt-Hopkins-like syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lynch syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital short bowel syndrome, X-linked Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
C syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Klippel-Feil syndrome 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stiff skin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lenz microphthalmia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marshall/Stickler syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Schwartz Jampel syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Grebe syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Saethre-Chotzen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, slow-channel congenital Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Floating-Harbor syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set From ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hermansky-Pudlak syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osler hemorrhagic telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wieacker syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kabuki make-up syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cohen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oligodontia-colorectal cancer syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Filippi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal congenital contractural syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primrose syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perrault syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marshall-Smith syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brittle cornea syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rotor syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oral-facial-digital syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Acrocallosal syndrome, Schinzel type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gray platelet syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mast syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Amish infantile epilepsy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meacham syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stormorken syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Opitz-Frias syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardio-facio-cutaneous syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Yunis Varon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cowden syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mulibrey nanism syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ohdo syndrome, X-linked Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, idiopathic, steroid-resistant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Townes-Brocks-branchiootorenal-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SeSAME syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Odontotrichomelic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome, type 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infantile liver failure syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Infantile liver failure syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lowe syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 7B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, musculocontractural type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rett syndrome, congenital variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Van Maldergem syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bone marrow failure syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofaciodigital syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofaciodigital syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Distichiasis-lymphedema syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Townes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neu-Laxova syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Winchester syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Unverricht-Lundborg syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Verheij syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Allan-Herndon-Dudley syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Advanced sleep phase syndrome, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sick sinus syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arterial tortuosity syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Juvenile polyposis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Papillon-Lefèvre syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brown-vialetto-van laere syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, epilepsy, and diabetes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peters plus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ulnar-mammary syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Zunich neuroectodermal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Beckwith-Wiedemann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Van Maldergem Wetzburger Verloes syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sotos' syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dyggve-Melchior-Clausen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Baraitser-Winter Syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Three M syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Howel-Evans syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Senior-Loken syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Senior-Loken syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Senior-Loken syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rhabdoid tumor predisposition syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Finnish congenital nephrotic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tatton-Brown-rahman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
COACH syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short rib polydactyly syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Short rib polydactyly syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enhanced s-cone syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
X-linked hydrocephalus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Acquired long QT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Van der Woude syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sudden infant death syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dursun syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carpenter syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Li-Fraumeni syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Haim-Munk syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Knobloch syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Carbohydrate-deficient glycoprotein syndrome type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Advanced sleep phase syndrome, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jarcho-Levin syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cornelia de Lange syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive Dejerine-Sottas syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kabuki syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hay-Wells syndrome of ectodermal dysplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Reynolds syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Reynolds syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glut1 deficiency syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 12/15, digenic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Serkal syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marinesco-Sjögren syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Seckel syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neu-laxova syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Urofacial syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gordon's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arts syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
McKusick Kaufman syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the McKusick Kaufman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rubinstein-Taybi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
FG syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polyglandular autoimmune syndrome, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bernard-Soulier syndrome, type A1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Arthrogryposis renal dysfunction cholestasis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis renal dysfunction cholestasis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
EEM syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiofaciocutaneous syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
TARP syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the TARP syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Drash syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Drash syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly, hiatal hernia and nephrotic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pallister-Hall syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pallister-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Radial aplasia-thrombocytopenia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Radial aplasia-thrombocytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Griscelli syndrome type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Griscelli syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Griscelli syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Caudal regression syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Catel Manzke syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Trichohepatoenteric syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cockayne syndrome type A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warsaw breakage syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warsaw breakage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 17 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Popliteal pterygium syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SHORT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Jervell and Lange-Nielsen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bainbridge-Ropers syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofaciodigital syndrome xiv Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome xiv phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome, French Canadian type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene Set From ClinVar Gene-Phenotype Associations genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bent bone dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pachydermoperiostosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pachydermoperiostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bardet-Biedl syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Crouzon syndrome with acanthosis nigricans Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Crouzon syndrome with acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex II deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nance-Horan syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nance-Horan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple mitochondrial dysfunctions syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple mitochondrial dysfunctions syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple mitochondrial dysfunctions syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Saethre-Chotzen syndrome with eyelid anomalies Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome with eyelid anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gerstmann-Straussler-Scheinker syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gerstmann-Straussler-Scheinker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Curry-Hall syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Curry-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Familial multiple polyposis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kartagener syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kartagener syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutis Gyrata syndrome of Beare and Stevenson Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Donnai Barrow syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Donnai Barrow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Klippel-Feil syndrome 1, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dubin-Johnson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dubin-Johnson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Riddle syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Riddle syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cold-induced sweating syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cold-induced sweating syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oto-palato-digital syndrome, type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cockayne syndrome, type B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cockayne syndrome, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wagner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wagner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene Set From ClinVar Gene-Phenotype Associations genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Schinzel-Giedion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Schinzel-Giedion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bowen-Conradi syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bowen-Conradi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
ATR-X syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the ATR-X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gardner syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Baller-Gerold syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Baller-Gerold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spondylocarpotarsal synostosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spondylocarpotarsal synostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
LONG QT SYNDROME 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the LONG QT SYNDROME 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal coloboma syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal coloboma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Menkes kinky-hair syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Menkes kinky-hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Legius syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Legius syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Andermann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Andermann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Michels syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Michels syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stocco dos Santos syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stocco dos Santos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sotos syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sotos syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lenz-Majewski hyperostosis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lenz-Majewski hyperostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Axenfeld-Rieger syndrome type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Axenfeld-Rieger syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Axenfeld-Rieger syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lethal congenital contracture syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitchell-Riley syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitchell-Riley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tietz syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Prune belly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Prune belly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alagille syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alagille syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alagille syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alagille syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mosaic variegated aneuploidy syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mosaic variegated aneuploidy syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Christianson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Christianson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Histiocytosis-lymphadenopathy plus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Histiocytosis-lymphadenopathy plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Skin fragility woolly hair syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Skin fragility woolly hair syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cortical dysplasia-focal epilepsy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spondylocheirodysplasia, Ehlers-Danlos syndrome-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital long QT syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Three M syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Symphalangism-brachydactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Symphalangism-brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rhabdoid tumor predisposition syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Treacher collins syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stickler syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Trichorhinophalangeal syndrome type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Trichorhinophalangeal syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enlarged vestibular aqueduct syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Enlarged vestibular aqueduct syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Temple-Baraitser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Temple-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Boucher Neuhauser syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Boucher Neuhauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Stuve-Wiedemann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Stuve-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polyendocrine-polyneuropathy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polyendocrine-polyneuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune lymphoproliferative syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glucose transporter type 1 deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Perry syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Perry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Freeman-Sheldon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Freeman-Sheldon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adams-Oliver syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adams-Oliver syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Noonan's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Noonan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alacrima, achalasia, and mental retardation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly-capillary malformation syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Roussy-Lévy syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Roussy-Lévy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
atypical hemolytic-uremic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the atypical hemolytic-uremic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA-depletion syndrome 3, hepatocerebral Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA-depletion syndrome 3, hepatocerebral phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renpenning syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renpenning syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pendred's syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pendred's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
FG syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cocoon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cocoon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hennekam lymphangiectasia-lymphedema syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Kallmann syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bare lymphocyte syndrome type 2, complementation group E Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bare lymphocyte syndrome type 2, complementation group A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bare lymphocyte syndrome type 2, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Borjeson-Forssman-Lehmann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Borjeson-Forssman-Lehmann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rothmund-Thomson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rothmund-Thomson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meckel syndrome, type 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Activated PI3K-delta syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Activated PI3K-delta syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Snyder Robinson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Snyder Robinson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Weill-Marchesani syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Reifenstein syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Reifenstein syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rapadilino syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Rapadilino syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tumor predisposition syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tumor predisposition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 9/15, digenic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 9/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency-centromeric instability-facial anomalies syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Scalp ear nipple syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Scalp ear nipple syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Majeed syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Majeed syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cutaneous telangiectasia and cancer syndrome, familial Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi-goutieres syndrome 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi-goutieres syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi-goutieres syndrome 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi-goutieres syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dejerine-Sottas syndrome, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dejerine-Sottas syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marden-Walker syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marden-Walker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Joubert syndrome 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Miller syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Miller syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pineal hyperplasia AND diabetes mellitus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Fuhrmann syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Fuhrmann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oto-palato-digital syndrome, type II Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oto-palato-digital syndrome, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia skin fragility syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia skin fragility syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Prader-Willi-like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Prader-Willi-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Incontinentia pigmenti syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Incontinentia pigmenti syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosis prematurity syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis prematurity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Yakut short stature syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Yakut short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Shprintzen syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Shprintzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Wolfram-like syndrome, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Wolfram-like syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brugada syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neurofibromatosis-Noonan syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neurofibromatosis-Noonan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Crouzon syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Crouzon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Brown-Vialetto-Van laere syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Brown-Vialetto-Van laere syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Abruzzo Erickson syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Abruzzo Erickson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hand foot uterus syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hand foot uterus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nail-patella syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nail-patella syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Camptodactyly, tall stature, and hearing loss syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital myasthenic syndrome, acetazolamide-responsive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Loeys-Dietz syndrome, type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Smith-Magenis syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Smith-Magenis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Branchiootic syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Usher syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectodermal dysplasia-syndactyly syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cardiofaciocutaneous syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cardiofaciocutaneous syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular hypertrophy-cerebral syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Aicardi Goutieres syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Aicardi Goutieres syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune lymphoproliferative syndrome, type 1a Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 1a phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Warburg micro syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Long QT syndrome 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
FG syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the FG syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peutz-Jeghers syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Child syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Child syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bernard-Soulier syndrome type C Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome type C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Marden Walker like syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Marden Walker like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hidrotic ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Orofacial-digital syndrome IV Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Orofacial-digital syndrome IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chromosome 9q deletion syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chromosome 9q deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hereditary cancer-predisposing syndrome:Hereditary diffuse gastric cancer Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary diffuse gastric cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Meier-Gorlin syndrome 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Peeling skin syndrome, acral type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Peeling skin syndrome, acral type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Shprintzen-Goldberg syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Shprintzen-Goldberg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pena-Shokeir syndrome type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pena-Shokeir syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Enhanced S-Cone Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Enhanced S-Cone Syndrome from the curated CTD Gene-Disease Associations dataset.
Lymphedema distichiasis syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lymphedema distichiasis syndrome from the curated CTD Gene-Disease Associations dataset.
Muir-Torre Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Muir-Torre Syndrome from the curated CTD Gene-Disease Associations dataset.
Mohr-Tranebjaerg syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mohr-Tranebjaerg syndrome from the curated CTD Gene-Disease Associations dataset.
MASS syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MASS syndrome from the curated CTD Gene-Disease Associations dataset.
Brugada Syndrome 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Brugada Syndrome 7 from the curated CTD Gene-Disease Associations dataset.
Kenny Caffey syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Kenny Caffey syndrome from the curated CTD Gene-Disease Associations dataset.
Riddle Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Riddle Syndrome from the curated CTD Gene-Disease Associations dataset.
Siderius X-linked mental retardation syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Siderius X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.
Sturge-Weber Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sturge-Weber Syndrome from the curated CTD Gene-Disease Associations dataset.
TRICHODENTOOSSEOUS SYNDROME Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease TRICHODENTOOSSEOUS SYNDROME from the curated CTD Gene-Disease Associations dataset.
Brugada Syndrome 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Brugada Syndrome 8 from the curated CTD Gene-Disease Associations dataset.
Char syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Char syndrome from the curated CTD Gene-Disease Associations dataset.
Shwachman syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Shwachman syndrome from the curated CTD Gene-Disease Associations dataset.
Atypical Hemolytic Uremic Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Atypical Hemolytic Uremic Syndrome from the curated CTD Gene-Disease Associations dataset.
MAST Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MAST Syndrome from the curated CTD Gene-Disease Associations dataset.
Acute Coronary Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Acute Coronary Syndrome from the curated CTD Gene-Disease Associations dataset.
Sjogren-Larsson Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sjogren-Larsson Syndrome from the curated CTD Gene-Disease Associations dataset.
MEHMO syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MEHMO syndrome from the curated CTD Gene-Disease Associations dataset.
Glaucoma-Related Pigment Dispersion Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma-Related Pigment Dispersion Syndrome from the curated CTD Gene-Disease Associations dataset.
Lateral Medullary Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lateral Medullary Syndrome from the curated CTD Gene-Disease Associations dataset.
FORSYTHE-WAKELING SYNDROME Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease FORSYTHE-WAKELING SYNDROME from the curated CTD Gene-Disease Associations dataset.
Wolcott-Rallison syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Wolcott-Rallison syndrome from the curated CTD Gene-Disease Associations dataset.
Partington X-linked mental retardation syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Partington X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.
Cold-Induced Sweating Syndrome 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cold-Induced Sweating Syndrome 1 from the curated CTD Gene-Disease Associations dataset.
Persistent Mullerian duct syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Persistent Mullerian duct syndrome from the curated CTD Gene-Disease Associations dataset.
Lacrimoauriculodentodigital syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lacrimoauriculodentodigital syndrome from the curated CTD Gene-Disease Associations dataset.
Desbuquois syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Desbuquois syndrome from the curated CTD Gene-Disease Associations dataset.
ABCD syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ABCD syndrome from the curated CTD Gene-Disease Associations dataset.
USHER SYNDROME, TYPE IJ Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease USHER SYNDROME, TYPE IJ from the curated CTD Gene-Disease Associations dataset.
Nijmegen Breakage Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nijmegen Breakage Syndrome from the curated CTD Gene-Disease Associations dataset.
Basal Cell Nevus Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Basal Cell Nevus Syndrome from the curated CTD Gene-Disease Associations dataset.
Shy-Drager Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Shy-Drager Syndrome from the curated CTD Gene-Disease Associations dataset.
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.
Alopecia-Mental Retardation Syndrome 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 1 from the curated CTD Gene-Disease Associations dataset.
Alopecia-Mental Retardation Syndrome 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 2 from the curated CTD Gene-Disease Associations dataset.
Bartter syndrome, antenatal type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bartter syndrome, antenatal type 1 from the curated CTD Gene-Disease Associations dataset.
Kabuki syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Kabuki syndrome from the curated CTD Gene-Disease Associations dataset.
Allanson Pantzar McLeod syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Allanson Pantzar McLeod syndrome from the curated CTD Gene-Disease Associations dataset.
Aarskog Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aarskog Syndrome from the curated CTD Gene-Disease Associations dataset.
Menkes Kinky Hair Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Menkes Kinky Hair Syndrome from the curated CTD Gene-Disease Associations dataset.
Achalasia Addisonianism Alacrimia syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Achalasia Addisonianism Alacrimia syndrome from the curated CTD Gene-Disease Associations dataset.
Waardenburg syndrome, type 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg syndrome, type 4 from the curated CTD Gene-Disease Associations dataset.
Raine syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Raine syndrome from the curated CTD Gene-Disease Associations dataset.
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.
Opitz GBBB Syndrome, X-Linked Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Opitz GBBB Syndrome, X-Linked from the curated CTD Gene-Disease Associations dataset.
Bernard-Soulier Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bernard-Soulier Syndrome from the curated CTD Gene-Disease Associations dataset.
Joubert Syndrome 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Joubert Syndrome 8 from the curated CTD Gene-Disease Associations dataset.
Occipital horn syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Occipital horn syndrome from the curated CTD Gene-Disease Associations dataset.
Ehlers-Danlos syndrome 6B Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome 6B from the curated CTD Gene-Disease Associations dataset.
Ellis-Van Creveld Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ellis-Van Creveld Syndrome from the curated CTD Gene-Disease Associations dataset.
Silver-Russell Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Silver-Russell Syndrome from the curated CTD Gene-Disease Associations dataset.
Popliteal Pterygium Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Popliteal Pterygium Syndrome from the curated CTD Gene-Disease Associations dataset.
Laron Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Laron Syndrome from the curated CTD Gene-Disease Associations dataset.
TARP syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease TARP syndrome from the curated CTD Gene-Disease Associations dataset.
Tight skin contracture syndrome, lethal Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tight skin contracture syndrome, lethal from the curated CTD Gene-Disease Associations dataset.
Budd-Chiari Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Budd-Chiari Syndrome from the curated CTD Gene-Disease Associations dataset.
Muenke Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Muenke Syndrome from the curated CTD Gene-Disease Associations dataset.
NOONAN SYNDROME 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NOONAN SYNDROME 7 from the curated CTD Gene-Disease Associations dataset.
Oculootoradial syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculootoradial syndrome from the curated CTD Gene-Disease Associations dataset.
MORM syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MORM syndrome from the curated CTD Gene-Disease Associations dataset.
Roifman syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Roifman syndrome from the curated CTD Gene-Disease Associations dataset.
Ambras syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ambras syndrome from the curated CTD Gene-Disease Associations dataset.
Usher syndrome, type 1C Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 1C from the curated CTD Gene-Disease Associations dataset.
Vohwinkel Syndrome, Variant Form Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Vohwinkel Syndrome, Variant Form from the curated CTD Gene-Disease Associations dataset.
Usher syndrome, type 1F Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 1F from the curated CTD Gene-Disease Associations dataset.
Beckwith-Wiedemann Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Beckwith-Wiedemann Syndrome from the curated CTD Gene-Disease Associations dataset.
Griscelli syndrome type 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Griscelli syndrome type 2 from the curated CTD Gene-Disease Associations dataset.
Martsolf syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Martsolf syndrome from the curated CTD Gene-Disease Associations dataset.
Donnai-Barrow syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Donnai-Barrow syndrome from the curated CTD Gene-Disease Associations dataset.
Griscelli syndrome type 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Griscelli syndrome type 3 from the curated CTD Gene-Disease Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA from the curated CTD Gene-Disease Associations dataset.
RAJAB SYNDROME Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease RAJAB SYNDROME from the curated CTD Gene-Disease Associations dataset.
Norman Roberts lissencephaly syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Norman Roberts lissencephaly syndrome from the curated CTD Gene-Disease Associations dataset.
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.
Tietz syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tietz syndrome from the curated CTD Gene-Disease Associations dataset.
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) from the curated CTD Gene-Disease Associations dataset.
Griscelli syndrome type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Griscelli syndrome type 1 from the curated CTD Gene-Disease Associations dataset.
Senior-Loken Syndrome 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Senior-Loken Syndrome 3 from the curated CTD Gene-Disease Associations dataset.
HIV-Associated Lipodystrophy Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HIV-Associated Lipodystrophy Syndrome from the curated CTD Gene-Disease Associations dataset.
Laryngo onycho cutaneous syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Laryngo onycho cutaneous syndrome from the curated CTD Gene-Disease Associations dataset.
Oculocerebrorenal Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocerebrorenal Syndrome from the curated CTD Gene-Disease Associations dataset.
Long Qt Syndrome 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Long Qt Syndrome 9 from the curated CTD Gene-Disease Associations dataset.
Usher Syndrome, Type IG Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Usher Syndrome, Type IG from the curated CTD Gene-Disease Associations dataset.
USHER SYNDROME, TYPE IIIA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease USHER SYNDROME, TYPE IIIA from the curated CTD Gene-Disease Associations dataset.
Creutzfeldt-Jakob Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Creutzfeldt-Jakob Syndrome from the curated CTD Gene-Disease Associations dataset.
Reed's syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Reed's syndrome from the curated CTD Gene-Disease Associations dataset.
Transient Myeloproliferative Disorder of Down Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Transient Myeloproliferative Disorder of Down Syndrome from the curated CTD Gene-Disease Associations dataset.
Miles-Carpenter x-linked mental retardation syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Miles-Carpenter x-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.
Mucocutaneous Lymph Node Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mucocutaneous Lymph Node Syndrome from the curated CTD Gene-Disease Associations dataset.
Wrinkly skin syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Wrinkly skin syndrome from the curated CTD Gene-Disease Associations dataset.
Hypoplastic Left Heart Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypoplastic Left Heart Syndrome from the curated CTD Gene-Disease Associations dataset.
Senior-Loken Syndrome 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Senior-Loken Syndrome 5 from the curated CTD Gene-Disease Associations dataset.
Holt-Oram syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Holt-Oram syndrome from the curated CTD Gene-Disease Associations dataset.
Woodhouse Sakati syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Woodhouse Sakati syndrome from the curated CTD Gene-Disease Associations dataset.
Allan-Herndon-Dudley syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Allan-Herndon-Dudley syndrome from the curated CTD Gene-Disease Associations dataset.
Larsen-Like Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Larsen-Like Syndrome from the curated CTD Gene-Disease Associations dataset.
Greig cephalopolysyndactyly syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Greig cephalopolysyndactyly syndrome from the curated CTD Gene-Disease Associations dataset.
Meier-Gorlin syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Meier-Gorlin syndrome from the curated CTD Gene-Disease Associations dataset.
Oculopalatoskeletal syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculopalatoskeletal syndrome from the curated CTD Gene-Disease Associations dataset.
Hypoparathyroidism-retardation-dysmorphism syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypoparathyroidism-retardation-dysmorphism syndrome from the curated CTD Gene-Disease Associations dataset.
Usher syndrome, type 2A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Usher syndrome, type 2A from the curated CTD Gene-Disease Associations dataset.
Ectrodactyly-cleft lip/palate syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectrodactyly-cleft lip/palate syndrome from the curated CTD Gene-Disease Associations dataset.
Metabolic Syndrome X Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Metabolic Syndrome X from the curated CTD Gene-Disease Associations dataset.
Brugada Syndrome 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Brugada Syndrome 6 from the curated CTD Gene-Disease Associations dataset.
Prader-Willi Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Prader-Willi Syndrome from the curated CTD Gene-Disease Associations dataset.
Cerebrooculofacioskeletal Syndrome 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebrooculofacioskeletal Syndrome 4 from the curated CTD Gene-Disease Associations dataset.
Cerebrooculofacioskeletal Syndrome 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebrooculofacioskeletal Syndrome 2 from the curated CTD Gene-Disease Associations dataset.
Cerebrooculofacioskeletal Syndrome 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebrooculofacioskeletal Syndrome 1 from the curated CTD Gene-Disease Associations dataset.
Sick Sinus Syndrome 2, Autosomal Dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sick Sinus Syndrome 2, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.
Cushing Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cushing Syndrome from the curated CTD Gene-Disease Associations dataset.
Craniosynostosis radial aplasia syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Craniosynostosis radial aplasia syndrome from the curated CTD Gene-Disease Associations dataset.
LEOPARD Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease LEOPARD Syndrome from the curated CTD Gene-Disease Associations dataset.
Lethal Congenital Contracture Syndrome 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset.
Fertile eunuch syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Fertile eunuch syndrome from the curated CTD Gene-Disease Associations dataset.
Adams-Stokes Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Adams-Stokes Syndrome from the curated CTD Gene-Disease Associations dataset.
USHER SYNDROME, TYPE IID Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease USHER SYNDROME, TYPE IID from the curated CTD Gene-Disease Associations dataset.
Aicardi-Goutieres syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aicardi-Goutieres syndrome from the curated CTD Gene-Disease Associations dataset.
Sick Sinus Syndrome 1, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sick Sinus Syndrome 1, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Potocki-Shaffer syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Potocki-Shaffer syndrome from the curated CTD Gene-Disease Associations dataset.
Aicardi Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Aicardi Syndrome from the curated CTD Gene-Disease Associations dataset.
LEOPARD SYNDROME 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease LEOPARD SYNDROME 3 from the curated CTD Gene-Disease Associations dataset.
Noonan Syndrome 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Noonan Syndrome 2 from the curated CTD Gene-Disease Associations dataset.
Polyposis Syndrome, Hereditary Mixed, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Polyposis Syndrome, Hereditary Mixed, 2 from the curated CTD Gene-Disease Associations dataset.
Hypotonia-Cystinuria Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypotonia-Cystinuria Syndrome from the curated CTD Gene-Disease Associations dataset.
Proteus Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Proteus Syndrome from the curated CTD Gene-Disease Associations dataset.
Nance-Horan syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Nance-Horan syndrome from the curated CTD Gene-Disease Associations dataset.
Kleefstra Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Kleefstra Syndrome from the curated CTD Gene-Disease Associations dataset.
Williams Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Williams Syndrome from the curated CTD Gene-Disease Associations dataset.
HIV Wasting Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HIV Wasting Syndrome from the curated CTD Gene-Disease Associations dataset.
Acrocallosal Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Acrocallosal Syndrome from the curated CTD Gene-Disease Associations dataset.
Abdominal obesity metabolic syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Abdominal obesity metabolic syndrome from the curated CTD Gene-Disease Associations dataset.
C SYNDROME Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease C SYNDROME from the curated CTD Gene-Disease Associations dataset.
Carnevale syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Carnevale syndrome from the curated CTD Gene-Disease Associations dataset.
Snyder Robinson syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Snyder Robinson syndrome from the curated CTD Gene-Disease Associations dataset.
Klippel-Trenaunay-Weber Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Klippel-Trenaunay-Weber Syndrome from the curated CTD Gene-Disease Associations dataset.
Waardenburg Syndrome, Type 2C Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Waardenburg Syndrome, Type 2C from the curated CTD Gene-Disease Associations dataset.
Heart-hand syndrome, Slovenian type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Heart-hand syndrome, Slovenian type from the curated CTD Gene-Disease Associations dataset.
Fragile X Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Fragile X Syndrome from the curated CTD Gene-Disease Associations dataset.
Weaver syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Weaver syndrome from the curated CTD Gene-Disease Associations dataset.
Behcet Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Behcet Syndrome from the curated CTD Gene-Disease Associations dataset.
Blepharophimosis syndrome type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Blepharophimosis syndrome type 1 from the curated CTD Gene-Disease Associations dataset.
AXENFELD-RIEGER SYNDROME, TYPE 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AXENFELD-RIEGER SYNDROME, TYPE 1 from the curated CTD Gene-Disease Associations dataset.
AXENFELD-RIEGER SYNDROME, TYPE 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AXENFELD-RIEGER SYNDROME, TYPE 3 from the curated CTD Gene-Disease Associations dataset.
AXENFELD-RIEGER SYNDROME, TYPE 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AXENFELD-RIEGER SYNDROME, TYPE 2 from the curated CTD Gene-Disease Associations dataset.
Crouzon Syndrome With Acanthosis Nigricans Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Crouzon Syndrome With Acanthosis Nigricans from the curated CTD Gene-Disease Associations dataset.
Moebius syndrome 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Moebius syndrome 1 from the curated CTD Gene-Disease Associations dataset.
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome from the curated CTD Gene-Disease Associations dataset.
Usher Syndrome, Type IH Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Usher Syndrome, Type IH from the curated CTD Gene-Disease Associations dataset.
Robinow syndrome, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Robinow syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Fg Syndrome 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Fg Syndrome 5 from the curated CTD Gene-Disease Associations dataset.
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME from the curated CTD Gene-Disease Associations dataset.
Smith-Magenis Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Smith-Magenis Syndrome from the curated CTD Gene-Disease Associations dataset.
Oligodontia-Colorectal Cancer Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oligodontia-Colorectal Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.
Tourette Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tourette Syndrome from the curated CTD Gene-Disease Associations dataset.
Malpuech facial clefting syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Malpuech facial clefting syndrome from the curated CTD Gene-Disease Associations dataset.
Wolff-Parkinson-White Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Wolff-Parkinson-White Syndrome from the curated CTD Gene-Disease Associations dataset.

Harmonizome 3.0

GTF3AP1 Gene

GTF3AP6 Gene

GTF3AP4 Gene

GTF3AP5 Gene

GTF2F2P1 Gene

GTF2F2P2 Gene

LOC642929 Gene

GTF2H3 Gene

GTF2H2 Gene

GTF2H1 Gene

GTF2H5 Gene

GTF2H4 Gene

GTF2A1L Gene

GTF3C1 Gene

GTF3C6 Gene

GTF3C5 Gene

GTF3C4 Gene

GTF2IP1 Gene

GTF2IP3 Gene

GTF2IP2 Gene

GTF2IP5 Gene

GTF2IP4 Gene

GTF2IP6 Gene

GRASP Gene

GTF2F1 Gene

GTF2F2 Gene

LOC100129001 Gene

GTF2IP20 Gene

GTF3A Gene

GTF2H2B Gene

GCN1L1 Gene

GTF2A1 Gene

GTF2A2 Gene

LOC100422440 Gene

GTF2IP8 Gene

LOC100128441 Gene

LOC342784 Gene

LOC644563 Gene

GTF3C3 Gene

GTF3C2 Gene

LOC100422334 Gene

LOC101930122 Gene

GTF2E1 Gene

GTF2E2 Gene

LOC646745 Gene

GTF2B Gene

GTF2I Gene

GTF2IP12 Gene

GTF2IP9 Gene

GTF2IP13 Gene

GTF2IP23 Gene

general adaptation syndrome Gene Set

general adaptation syndrome, behavioral process Gene Set

general Gene Set

General substrate transporter Gene Set

abc transporters general Gene Set

General transcription by RNA polymerase I Gene Set

General transcription regulation Gene Set

General Paralysis Gene Set

General Disorders And Administration Site Conditions Gene Set

General Discomfort Gene Set

RNA polymerase III general transcription initiation factor binding Gene Set

general transcription initiation factor binding Gene Set

RNA polymerase II general transcription initiation factor binding Gene Set

Human - Lung v2 (HLCA) - L4 - EC general capillary Gene Set

Human - Lung v2 (HLCA) - Finest - EC general capillary Gene Set

General adipocyte_Aorta_Mouse Gene Set

General proximal cell_Kidney_Mouse Gene Set

General capillary cell_Capillary_Mouse Gene Set

General capillary cell_Capillary_Human Gene Set

Respiratory system_CT1_CAP1 general capillary gCap Gene Set

Respiratory system_CT1_CAP1 general capillary gCap Gene Set

RNA polymerase III general transcription initiation factor binding Gene Set

general transcription initiation factor binding Gene Set

RNA polymerase II general transcription initiation factor binding Gene Set

General cognitive ability Gene Set

General factor of neuroticism Gene Set

General glucose level in pregnancy (gestational week 30-32) Gene Set

General risk tolerance (MTAG) Gene Set