Name

DUP17P13.3 Gene

Chromosome 17p13.3 duplication syndrome

DEL17P13.1 Gene

Chromosome 17p13.1 deletion syndrome

DEL3Q29 Gene

Chromosome 3q29 microdeletion syndrome

DELXQ28 Gene

Chromosome Xq28 microdeletion syndrome

DEL15Q13.3 Gene

Chromosome 15q13.3 microdeletion syndrome

DEL17Q21.31 Gene

Microdeletion 17q21.31 syndrome

HMN7A Gene

Motor neuronopathy, distal hereditary, type VIIA

DLX5 Gene

distal-less homeobox 5

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]

DLX6 Gene

distal-less homeobox 6

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]

DLX1 Gene

distal-less homeobox 1

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

DLX2 Gene

distal-less homeobox 2

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]

DLX3 Gene

distal-less homeobox 3

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]

DEL22Q11.2 Gene

Chromosome 22q11.2 deletion syndrome, distal

DLX4 Gene

distal-less homeobox 4

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]

WDM Gene

Welander distal myopathy

SYM2 Gene

symphalangism 2 (distal)

SMAR Gene

Spinal muscular atrophy, chronic distal, autosomal recessive

HMNJ Gene

Distal hereditary motor neuropathy, Jerash type

DA4 Gene

arthrogryposis, distal, type 4

DEL7Q11.23 Gene

Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb

MPD3 Gene

Myopathy, distal 3

HOTTIP Gene

HOXA distal transcript antisense RNA

This gene produces a long RNA in antisense to the HOXA gene cluster. This transcript may regulate expression of HOXA genes in cis. This gene is upregulated in tumors and is implicated in the promotion of cell proliferation. [provided by RefSeq, Dec 2017]

DMAC2L Gene

distal membrane arm assembly component 2 like

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

DMAC2 Gene

distal membrane arm assembly component 2

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

DMAC1 Gene

distal membrane arm assembly component 1

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

Distal 17P13.3 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal 17P13.3 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

chromosome 17p13.3 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17p13.3 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17p13.1 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17p13.1 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Chromosome 17P13.3 Duplication Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chromosome 17P13.3 Duplication Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chromosome 17p13.3 duplication syndrome Gene Set

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

genes co-occuring with the disease Chromosome 17p13.3 duplication syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

17p13 3 YWHAE copy number variation Gene Set

From WikiPathways Pathways 2024

proteins participating in the 17p13 3 YWHAE copy number variation pathway from the WikiPathways Pathways 2024 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.

chromosome 15q13.3 microdeletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 15q13.3 microdeletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 3q29 microdeletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 3q29 microdeletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Nf1 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Nf1 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

16Q24.3 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 16Q24.3 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

6Q25 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 6Q25 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

20P12.3 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 20P12.3 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

2P21 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 2P21 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

2P21 Microdeletion Syndrome Without Cystinuria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 2P21 Microdeletion Syndrome Without Cystinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chromosome 15Q13.3 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chromosome 15Q13.3 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

1Q41Q42 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 1Q41Q42 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

14Q12 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 14Q12 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

7Q31 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 7Q31 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

17Q12 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 17Q12 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

1Q44 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 1Q44 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

2Q23.1 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 2Q23.1 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

5Q14.3 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 5Q14.3 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

2Q32Q33 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 2Q32Q33 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

1P31P32 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 1P31P32 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

2Q33.1 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 2Q33.1 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

12P12.1 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 12P12.1 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

1P21.3 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype 1P21.3 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

12Q14 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype 12Q14 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

4Q21 Microdeletion Syndrome Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype 4Q21 Microdeletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Chromosome 15q13.3 microdeletion syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Chromosome 15q13.3 microdeletion syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Chromosome 15q13.3 microdeletion syndrome Gene Set

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

genes co-occuring with the disease Chromosome 15q13.3 microdeletion syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Chromosome 3q29 microdeletion syndrome Gene Set

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

genes co-occuring with the disease Chromosome 3q29 microdeletion syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

5q14.3 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the 5q14.3 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

8q24.3 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the 8q24.3 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

microdeletion Gene Set

From GeneRIF Biological Term Annotations

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

Microdeletion Syndromes Gene Set

From DisGeNET Gene-Disease Associations

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

15Q24 Microdeletion Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 15Q24 Microdeletion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

9Q22.3 Microdeletion Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 9Q22.3 Microdeletion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations 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.

Jacobsen Distal 11q Deletion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jacobsen Distal 11q Deletion Syndrome from the curated CTD Gene-Disease Associations dataset.

chromosome 7q11.23 deletion syndrome, distal, 1.2mb Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 7q11.23 deletion syndrome, distal, 1.2mb phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 22q11.2 deletion syndrome, distal Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 22q11.2 deletion syndrome, distal phenotype from the curated OMIM Gene-Disease Associations dataset.

Distal Arthrogryposis Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Jacobsen Distal 11Q Deletion Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Jacobsen Distal 11Q Deletion Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Monosomy 3P Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Monosomy 3P Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chromosome 22Q11.2 Deletion Syndrome, Distal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chromosome 22Q11.2 Deletion Syndrome, Distal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Ileal Obstruction Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Distal Intestinal Obstruction Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Distal Trisomy 10Q Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Trisomy 10Q Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Monosomy 13Q Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Monosomy 13Q Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chromosome 19Q13.11 Deletion Syndrome, Distal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chromosome 19Q13.11 Deletion Syndrome, Distal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

16p11 2 distal deletion syndrome Gene Set

From WikiPathways Pathways 2024

proteins participating in the 16p11 2 distal deletion syndrome pathway from the WikiPathways Pathways 2024 dataset.

Distal 10q deletion syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Distal 10q deletion syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Chromosome 22q11.2 deletion syndrome, distal Gene Set

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

genes co-occuring with the disease Chromosome 22q11.2 deletion syndrome, distal in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal 10q deletion syndrome Gene Set

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

genes co-occuring with the disease Distal 10q deletion syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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.

Distal hereditary motor neuronopathy 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal spinal muscular atrophy, X-linked 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal spinal muscular atrophy, X-linked 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, with normal red cell morphology Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, with normal red cell morphology phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal myopathy Markesbery-Griggs type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 5B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 5B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal arthrogryposis type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal arthrogryposis type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 7B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, with hemolytic anemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, with hemolytic anemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal arthrogryposis type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal arthrogryposis type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, distal, type 5d Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, distal, type 5d phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal spinal muscular atrophy, autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal spinal muscular atrophy, autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, Distal, with Anterior Tibial Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset.

Welander distal myopathy, Swedish type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Welander distal myopathy, Swedish type from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Distal Hereditary Motor, Type IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Distal Hereditary Motor, Type IIA from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Distal, With Hemolytic Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Distal, With Hemolytic Anemia from the curated CTD Gene-Disease Associations dataset.

Neuronopathy, Distal Hereditary Motor, Type V Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuronopathy, Distal Hereditary Motor, Type V from the curated CTD Gene-Disease Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Neuronopathy, Distal Hereditary Motor, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuronopathy, Distal Hereditary Motor, Type IIB from the curated CTD Gene-Disease Associations dataset.

Arthrogryposis, Distal, Type 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arthrogryposis, Distal, Type 4 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.

ARTHROGRYPOSIS, DISTAL, TYPE 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ARTHROGRYPOSIS, DISTAL, TYPE 1A from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness from the curated CTD Gene-Disease Associations dataset.

Distal myopathy, Nonaka type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset.

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Distal Hereditary Motor, Type VIIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Distal Hereditary Motor, Type VIIA from the curated CTD Gene-Disease Associations dataset.

Arthrogryposis multiplex congenita, distal, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arthrogryposis multiplex congenita, distal, X-linked from the curated CTD Gene-Disease Associations dataset.

Distal Myopathies Gene Set

From CTD Gene-Disease Associations

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

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset.

Neuronopathy, Distal Hereditary Motor, Type Viib Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuronopathy, Distal Hereditary Motor, Type Viib from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, X-Linked 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, X-Linked 3 from the curated CTD Gene-Disease Associations dataset.

Distal arthrogryposis type 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Distal arthrogryposis type 2B from the curated CTD Gene-Disease Associations dataset.

distal muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

distal hereditary motor neuropathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease distal hereditary motor neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

distal arthrogryposis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

familial distal renal tubular acidosis Gene Set

From GAD Gene-Disease Associations

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

proximal chromosome 9p to q and distal chromosome 9q Gene Set

From GAD Gene-Disease Associations

genes associated with the disease proximal chromosome 9p to q and distal chromosome 9q in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

distal myopathies; myositis, inclusion body Gene Set

From GAD Gene-Disease Associations

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

distal Gene Set

From GeneRIF Biological Term Annotations

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

proximal/distal pattern formation involved in nephron development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal pattern formation involved in nephron development biological process from the curated GO Biological Process Annotations 2015 dataset.

metanephric distal convoluted tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the metanephric distal convoluted tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal/distal pattern formation involved in metanephric nephron development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal pattern formation involved in metanephric nephron development biological process from the curated GO Biological Process Annotations 2015 dataset.

metanephric distal tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the metanephric distal tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

metanephric distal tubule morphogenesis Gene Set

From GO Biological Process Annotations 2015

genes participating in the metanephric distal tubule morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.

distal tubule morphogenesis Gene Set

From GO Biological Process Annotations 2015

genes participating in the distal tubule morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.

distal tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the distal tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

lung proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the lung proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2015 dataset.

polarity specification of proximal/distal axis Gene Set

From GO Biological Process Annotations 2015

genes participating in the polarity specification of proximal/distal axis biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal/distal pattern formation Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal pattern formation biological process from the curated GO Biological Process Annotations 2015 dataset.

distal convoluted tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the distal convoluted tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii distal enhancer sequence-specific dna binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations 2015 dataset.

wide tufts of distal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the wide tufts of distal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tapering pointed ends of distal finger phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the tapering pointed ends of distal finger phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal upper limb muscle weakness Gene Set

From HPO Gene-Disease Associations

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

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal widening of metacarpals Gene Set

From HPO Gene-Disease Associations

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

late-onset distal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

aplasia/hypoplasia of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired distal vibration sensation Gene Set

From HPO Gene-Disease Associations

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

broad distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired distal tactile sensation Gene Set

From HPO Gene-Disease Associations

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

duplication of the distal phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanges of all fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanges of all fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sclerosis of distal finger phalanx Gene Set

From HPO Gene-Disease Associations

genes associated with the sclerosis of distal finger phalanx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

trapezoidal distal femoral condyles Gene Set

From HPO Gene-Disease Associations

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

partial duplication of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dysplastic distal thumb phalanges with a central hole Gene Set

From HPO Gene-Disease Associations

genes associated with the dysplastic distal thumb phalanges with a central hole phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

widened distal phalanges Gene Set

From HPO Gene-Disease Associations

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

abnormality of the distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

small distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

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

aplasia/hypoplasia of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

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

From HPO Gene-Disease Associations

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

partial duplication of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal hallux Gene Set

From HPO Gene-Disease Associations

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

absent distal interphalangeal creases Gene Set

From HPO Gene-Disease Associations

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

triangular shaped distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

slender distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the slender distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal ulnar hypoplasia Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive distal muscular atrophy Gene Set

From HPO Gene-Disease Associations

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

distal upper limb amyotrophy Gene Set

From HPO Gene-Disease Associations

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

bifid distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the bifid distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal lower limb amyotrophy Gene Set

From HPO Gene-Disease Associations

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

distal lower limb muscle weakness Gene Set

From HPO Gene-Disease Associations

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

decreased distal sensory nerve action potential Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased distal sensory nerve action potential phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal femoral metaphyseal abnormality Gene Set

From HPO Gene-Disease Associations

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

distal tapering of metatarsals Gene Set

From HPO Gene-Disease Associations

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

distal ileal atresia Gene Set

From HPO Gene-Disease Associations

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

distal tapering femur Gene Set

From HPO Gene-Disease Associations

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

ivory epiphyses of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the ivory epiphyses of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplastic distal humeri Gene Set

From HPO Gene-Disease Associations

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

complete duplication of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal amyotrophy Gene Set

From HPO Gene-Disease Associations

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

broad distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

wide distal femoral metaphysis Gene Set

From HPO Gene-Disease Associations

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

abnormality of the distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal shortening of limbs Gene Set

From HPO Gene-Disease Associations

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

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal sensory impairment of all modalities Gene Set

From HPO Gene-Disease Associations

genes associated with the distal sensory impairment of all modalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fifth finger distal phalanx clinodactyly Gene Set

From HPO Gene-Disease Associations

genes associated with the fifth finger distal phalanx clinodactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

club-shaped distal femur Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shortening of all distal phalanges of the fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all distal phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal/middle symphalangism of 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the distal/middle symphalangism of 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal femoral bowing Gene Set

From HPO Gene-Disease Associations

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

long distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

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

distal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

absent distal phalanges Gene Set

From HPO Gene-Disease Associations

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

distal symphalangism Gene Set

From HPO Gene-Disease Associations

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

generalized distal tubular acidosis Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bifid distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the bifid distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypermobility of distal interphalangeal joints Gene Set

From HPO Gene-Disease Associations

genes associated with the hypermobility of distal interphalangeal joints phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal renal tubular acidosis Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal sensory impairment Gene Set

From HPO Gene-Disease Associations

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

duplication of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive distal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

tapered distal phalanges of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the tapered distal phalanges of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal peripheral sensory neuropathy Gene Set

From HPO Gene-Disease Associations

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

complete duplication of distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

acroosteolysis of distal phalanges (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the acroosteolysis of distal phalanges (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal tibial bowing Gene Set

From HPO Gene-Disease Associations

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

distal urethral duplication Gene Set

From HPO Gene-Disease Associations

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

distal sensory loss of all modalities Gene Set

From HPO Gene-Disease Associations

genes associated with the distal sensory loss of all modalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlargement of the distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the enlargement of the distal femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal arthrogryposis Gene Set

From HPO Gene-Disease Associations

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

abnormality of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal symphalangism (hands) Gene Set

From HPO Gene-Disease Associations

genes associated with the distal symphalangism (hands) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired distal proprioception Gene Set

From HPO Gene-Disease Associations

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

absent fourth finger distal interphalangeal crease Gene Set

From HPO Gene-Disease Associations

genes associated with the absent fourth finger distal interphalangeal crease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Distal-less-like homeobox protein, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Distal-less-like homeobox protein, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

dilated distal convoluted tubules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the dilated distal convoluted tubules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal distal convoluted tubule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal distal convoluted tubule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal distal visceral endoderm morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal distal visceral endoderm morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal proximal-distal axis patterning Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal proximal-distal axis patterning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent distal visceral endoderm Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent distal visceral endoderm phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

neuronopathy, distal hereditary motor, type vi Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type vi phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

neuronopathy, distal hereditary motor, type vb Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type vb phenotype from the curated OMIM Gene-Disease Associations dataset.

neuronopathy, distal hereditary motor, type viia Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type viia phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, chronic distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, chronic distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neuronopathy, distal hereditary motor, type iid Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type iid phenotype from the curated OMIM Gene-Disease Associations dataset.

arthyrgryposis, distal, type 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthyrgryposis, distal, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, jerash type Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, jerash type phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 2a Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset.

welander distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis, distal, ar Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, ar phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis, distal, ad Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, ad phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

laing distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

?neuronopathy, distal hereditary motor, type iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?neuronopathy, distal hereditary motor, type iic phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type va Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type va phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis, distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis multiplex congenita, distal, type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis multiplex congenita, distal, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis multiplex congenita, distal, type 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis multiplex congenita, distal, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, with anterior tibial onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, x-linked 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, x-linked 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type viib Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type viib phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 1b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 1b phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, congenital nonprogressive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, congenital nonprogressive phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 5d Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 5d phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, tateyama type Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type iib Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type iib phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type iia Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type iia phenotype from the curated OMIM Gene-Disease Associations dataset.

distal tip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

distal tubular epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

renal distal tubule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

distal tip cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Distal Amyotrophy Gene Set

From DisGeNET Gene-Disease Associations

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

Distal Lower Limb Amyotrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Lower Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Spinal Muscular Atrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Renal Tubular Acidosis Gene Set

From DisGeNET Gene-Disease Associations

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

Progressive Distal Muscular Atrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Progressive Distal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Periodic Paralysis With Later-Onset Distal Motor Neuropathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Periodic Paralysis With Later-Onset Distal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Distal Phalanges Of All Fingers Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Broad Distal Phalanges Of All Fingers in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complete Duplication Of Distal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complete Duplication Of Distal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Distal Phalanx Gene Set

From DisGeNET Gene-Disease Associations

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

Stippling Of The Epiphysis Of The Distal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Stippling Of The Epiphysis Of The Distal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fifth Finger Distal Phalanx Clinodactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fifth Finger Distal Phalanx Clinodactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Welander Distal Myopathy Gene Set

From DisGeNET Gene-Disease Associations

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

Distal Upper Limb Amyotrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Upper Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Tibial Bowing Gene Set

From DisGeNET Gene-Disease Associations

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

Irregular Distal Femoral Epiphysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Irregular Distal Femoral Epiphysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Flat Distal Femoral Epiphysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Flat Distal Femoral Epiphysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Bile Duct Cancer Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Bile Duct Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Aortic Dissection Gene Set

From DisGeNET Gene-Disease Associations

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

Tapering Pointed Ends Of Distal Finger Phalanges Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tapering Pointed Ends Of Distal Finger Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Hereditary Motor Neuropathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Hereditary Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Triangular Shaped Distal Phalanx Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Triangular Shaped Distal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Peripheral Sensory Neuropathy Gene Set

From DisGeNET Gene-Disease Associations

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

Bifid Distal Phalanx Of Toe Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bifid Distal Phalanx Of Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Arthrogryposis Type 5D Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Arthrogryposis Type 5D in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Monosomy 12P Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Monosomy 12P in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Partial Duplication Of The Distal Phalanx Of The 2Nd Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Partial Duplication Of The Distal Phalanx Of The 2Nd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Partial Duplication Of The Distal Phalanx Of The 3Rd Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Partial Duplication Of The Distal Phalanx Of The 3Rd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Tapering Femur Gene Set

From DisGeNET Gene-Disease Associations

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

Generalized Distal Tubular Acidosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Generalized Distal Tubular Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Colitis Gene Set

From DisGeNET Gene-Disease Associations

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

Distal Urethral Duplication Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplastic Distal Thumb Phalanges With A Central Hole Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dysplastic Distal Thumb Phalanges With A Central Hole in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Distal Phalanx Of The Hallux Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Broad Distal Phalanx Of The Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Long Distal Phalanx Of Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Long Distal Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Klhl9-Related Early-Onset Distal Myopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Klhl9-Related Early-Onset Distal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Bile Duct Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Bile Duct Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complete Duplication Of The Distal Phalanges Of The Hand Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complete Duplication Of The Distal Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acroosteolysis Of Distal Phalanges (Feet) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acroosteolysis Of Distal Phalanges (Feet) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Curved Distal Phalanges Of The Hand Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Curved Distal Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Myopathy 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Myopathy 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Tapering Of Metatarsals Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Tapering Of Metatarsals in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Absent Fourth Finger Distal Interphalangeal Crease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Absent Fourth Finger Distal Interphalangeal Crease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyperkalemic Distal Renal Tubular Acidosis Gene Set

From DisGeNET Gene-Disease Associations

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

Distal-Type Epithelioid Sarcoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal-Type Epithelioid Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bullet-Shaped Distal Phalanx Of The Hallux Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bullet-Shaped Distal Phalanx Of The Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ivory Epiphyses Of The Distal Phalanges Of The Hand Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ivory Epiphyses Of The Distal Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

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

From DisGeNET Gene-Disease Associations

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

Distal Monosomy 1Q Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Monosomy 1Q in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Sensory Impairment Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short Distal Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

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

Impaired Distal Proprioception Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Muscle Atrophy Due To Neurologic Disease Gene Set

From DisGeNET Gene-Phenotype Associations

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

Shortening Of All Distal Phalanges Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Shortening Of All Distal Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fatigable Weakness Of Distal Limb Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

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

Late-Onset Distal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Lower Limb Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Upper Limb Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Distal Phalanx Of Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad Distal Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Club-Shaped Distal Femur Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Sensory Impairment Of All Modalities Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Sensory Impairment Of All Modalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Distal Renal Tubular Acidosis Co-Occurrent With Sensorineural Deafness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Renal Tubular Acidosis Co-Occurrent With Sensorineural Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteolytic Defects Of The Distal Phalanges Of The Hand Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteolytic Defects Of The Distal Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bifid Distal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bifid Distal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Partial Duplication Of The Distal Phalanx Of The Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Partial Duplication Of The Distal Phalanx Of The Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Impaired Distal Vibration Sensation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Progressive Distal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

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

Small Distal Femoral Epiphysis Gene Set

From DisGeNET Gene-Phenotype Associations

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

Wide Tufts Of Distal Phalanges Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Wide Tufts Of Distal Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hypermobility Of Distal Interphalangeal Joints Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hypermobility Of Distal Interphalangeal Joints in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Distal Joint Laxity Gene Set

From DisGeNET Gene-Phenotype Associations

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

Abnormality Of The Distal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormality Of The Distal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Impaired Distal Tactile Sensation Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Ileal Atresia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Femoral Bowing Gene Set

From DisGeNET Gene-Phenotype Associations

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

Tapered Distal Phalanges Of Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Tapered Distal Phalanges Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Duplication Of The Distal Phalanx Of Hand Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Duplication Of The Distal Phalanx Of Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Broad Distal Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Distal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad Distal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Widened Distal Phalanges Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Shortening Of Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Absent Distal Interphalangeal Creases Gene Set

From DisGeNET Gene-Phenotype Associations

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

Enlargement Of The Distal Femoral Epiphysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Enlargement Of The Distal Femoral Epiphysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Slender Distal Phalanx Of Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Slender Distal Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Distal Acroosteolysis Gene Set

From DisGeNET Gene-Phenotype Associations

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

Decreased Distal Sensory Nerve Action Potential Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Distal Sensory Nerve Action Potential in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Distal Ulnar Hypoplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal Widening Of Metacarpals Gene Set

From DisGeNET Gene-Phenotype Associations

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

Absent Distal Phalanges Gene Set

From DisGeNET Gene-Phenotype Associations

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

Trapezoidal Distal Femoral Condyles Gene Set

From DisGeNET Gene-Phenotype Associations

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

Wide Distal Femoral Metaphysis Gene Set

From DisGeNET Gene-Phenotype Associations

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

Distal/Middle Symphalangism Of 5Th Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal/Middle Symphalangism Of 5Th Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

proximal/distal pattern formation Gene Set

From GO Biological Process Annotations 2023

genes participating in the proximal/distal pattern formation biological process from the curated GO Biological Process Annotations 2023 dataset.

proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2023

genes participating in the proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2023 dataset.

metanephric distal tubule morphogenesis Gene Set

From GO Biological Process Annotations 2023

genes participating in the metanephric distal tubule morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.

metanephric distal convoluted tubule development Gene Set

From GO Biological Process Annotations 2023

genes participating in the metanephric distal convoluted tubule development biological process from the curated GO Biological Process Annotations 2023 dataset.

metanephric distal tubule development Gene Set

From GO Biological Process Annotations 2023

genes participating in the metanephric distal tubule development biological process from the curated GO Biological Process Annotations 2023 dataset.

distal tubule development Gene Set

From GO Biological Process Annotations 2023

genes participating in the distal tubule development biological process from the curated GO Biological Process Annotations 2023 dataset.

distal tubule morphogenesis Gene Set

From GO Biological Process Annotations 2023

genes participating in the distal tubule morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.

distal convoluted tubule development Gene Set

From GO Biological Process Annotations 2023

genes participating in the distal convoluted tubule development biological process from the curated GO Biological Process Annotations 2023 dataset.

distal dendrite Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the distal dendrite cellular component from the curated GO Cellular Component Annotations 2023 dataset.

apical distal dendrite Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the apical distal dendrite cellular component from the curated GO Cellular Component Annotations 2023 dataset.

dilated distal convoluted tubule Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the dilated distal convoluted tubule phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal distal convoluted tubule morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal distal convoluted tubule morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal proximal-distal axis patterning Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal proximal-distal axis patterning phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal distal visceral endoderm morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal distal visceral endoderm morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent distal visceral endoderm Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent distal visceral endoderm phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased distal limb length Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased distal limb length phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Human - Kidney - L1 - Distal Convoluted Tubule Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L1 - Distal Convoluted Tubule cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L2 - Distal Convoluted Tubule Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L2 - Distal Convoluted Tubule cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L3 - Distal Convoluted Tubule Type 1 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Distal Convoluted Tubule Type 1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L3 - Distal Convoluted Tubule Type 2 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Distal Convoluted Tubule Type 2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Distal epithelial cell_Distal airway_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal epithelial cell_Distal airway_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal Proliferative Progenitor cell_Bone_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal Proliferative Progenitor cell_Bone_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal limb bud cell_Limb bud_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal limb bud cell_Limb bud_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Enterocyte distal cell_Intestine_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Enterocyte distal cell_Intestine_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal cell_Epithelium_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal cell_Epithelium_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal stem cell_Epithelium_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal stem cell_Epithelium_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal convoluted tubular cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal convoluted tubular cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal tubule & loop of Henle cell_Fetal kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal tubule & loop of Henle cell_Fetal kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal tubular cell_Fetal kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal tubular cell_Fetal kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Medial and distal segment cell_Fetal kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Medial and distal segment cell_Fetal kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal tubular cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal tubular cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal tubular cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal tubular cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal convoluted tubular cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal convoluted tubular cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal cell_Blood vessel_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal cell_Blood vessel_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal lung progenitor cell_Lung_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal lung progenitor cell_Lung_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal epithelial cell_Lung_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal epithelial cell_Lung_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal cell_Prostate_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal cell_Prostate_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Distal convoluted tubular cell_Epithelium_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Distal convoluted tubular cell_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

7q11 23 distal copy number variation Gene Set

From WikiPathways Pathways 2024

proteins participating in the 7q11 23 distal copy number variation pathway from the WikiPathways Pathways 2024 dataset.

Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) pathway from the Reactome Pathways 2024 dataset.

Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5619114 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5619114 pathway from the Reactome Pathways 2024 dataset.

Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5658471 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)_5658471 pathway from the Reactome Pathways 2024 dataset.

proximal/distal pattern formation Gene Set

From GO Biological Process Annotations 2025

genes participating in the proximal/distal pattern formation biological process from the curated GO Biological Process Annotations 2025 dataset.

proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2025

genes participating in the proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2025 dataset.

metanephric distal tubule morphogenesis Gene Set

From GO Biological Process Annotations 2025

genes participating in the metanephric distal tubule morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.

metanephric distal convoluted tubule development Gene Set

From GO Biological Process Annotations 2025

genes participating in the metanephric distal convoluted tubule development biological process from the curated GO Biological Process Annotations 2025 dataset.

metanephric distal tubule development Gene Set

From GO Biological Process Annotations 2025

genes participating in the metanephric distal tubule development biological process from the curated GO Biological Process Annotations 2025 dataset.

distal tubule development Gene Set

From GO Biological Process Annotations 2025

genes participating in the distal tubule development biological process from the curated GO Biological Process Annotations 2025 dataset.

distal tubule morphogenesis Gene Set

From GO Biological Process Annotations 2025

genes participating in the distal tubule morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.

distal convoluted tubule development Gene Set

From GO Biological Process Annotations 2025

genes participating in the distal convoluted tubule development biological process from the curated GO Biological Process Annotations 2025 dataset.

distal dendrite Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the distal dendrite cellular component from the curated GO Cellular Component Annotations 2025 dataset.

apical distal dendrite Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the apical distal dendrite cellular component from the curated GO Cellular Component Annotations 2025 dataset.

Distal arthrogryposis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Autosomal dominant distal hereditary motor neuronopathy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Autosomal dominant distal hereditary motor neuronopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 5 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Autosomal dominant distal hereditary motor neuronopathy 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Distal arthrogryposis type 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Distal arthrogryposis type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Distal myopathy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Autosomal recessive distal hereditary motor neuronopathy 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Autosomal recessive distal hereditary motor neuronopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Autosomal recessive distal hereditary motor neuronopathy Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Autosomal recessive distal hereditary motor neuronopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Distal arthrogryposis type 2B Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Distal arthrogryposis type 2B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Distal myopathy 1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Distal myopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Distal arthrogryposis type 5D Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 5D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 2A Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal myopathy Gene Set

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

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

Distal arthrogryposis Gene Set

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

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

Autosomal dominant distal hereditary motor neuronopathy 2 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 4 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal myopathy with rimmed vacuoles Gene Set

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

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

Distal arthrogryposis type 3 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Gene Set

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

genes co-occuring with the disease Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 1 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal myopathy with anterior tibial onset Gene Set

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

genes co-occuring with the disease Distal myopathy with anterior tibial onset in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 2B Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 2B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal myopathy 1 Gene Set

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

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

Autosomal recessive distal hereditary motor neuronopathy 1 Gene Set

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

genes co-occuring with the disease Autosomal recessive distal hereditary motor neuronopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive distal hereditary motor neuronopathy Gene Set

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

genes co-occuring with the disease Autosomal recessive distal hereditary motor neuronopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive distal hereditary motor neuronopathy 3 Gene Set

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

genes co-occuring with the disease Autosomal recessive distal hereditary motor neuronopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 14 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 5 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal myopathy 3 Gene Set

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

genes co-occuring with the disease Distal myopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 9 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked distal spinal muscular atrophy 3 Gene Set

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

genes co-occuring with the disease X-linked distal spinal muscular atrophy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive distal hereditary motor neuronopathy 4 Gene Set

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

genes co-occuring with the disease Autosomal recessive distal hereditary motor neuronopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 1B Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 10 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 1A Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 1 Gene Set

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

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

Autosomal dominant distal hereditary motor neuronopathy 7 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 6 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 8 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant distal hereditary motor neuronopathy 3 Gene Set

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

genes co-occuring with the disease Autosomal dominant distal hereditary motor neuronopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 1C Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 1C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 7 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Partial trisomy distal 4q Gene Set

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

genes co-occuring with the disease Partial trisomy distal 4q in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 5 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal myopathy 4 Gene Set

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

genes co-occuring with the disease Distal myopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive distal hereditary motor neuronopathy 5 Gene Set

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

genes co-occuring with the disease Autosomal recessive distal hereditary motor neuronopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 4 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive distal hereditary motor neuronopathy 2 Gene Set

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

genes co-occuring with the disease Autosomal recessive distal hereditary motor neuronopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 6 Gene Set

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

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

Autosomal recessive distal hereditary motor neuronopathy 8 Gene Set

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

genes co-occuring with the disease Autosomal recessive distal hereditary motor neuronopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 2B2 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 2B2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 2B1 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 2B1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Distal arthrogryposis type 2B3 Gene Set

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

genes co-occuring with the disease Distal arthrogryposis type 2B3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Renal distal tubule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Distal tip cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Distal tip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Distal tubular epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Distal axon Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Distal axon cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Distal portion of axoneme Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Distal portion of axoneme cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Distal dendrite Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Distal dendrite cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Apical distal dendrite Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Apical distal dendrite cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Photoreceptor distal connecting cilium Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Photoreceptor distal connecting cilium cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Distal axon Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Distal axon cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Distal dendrite Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Distal dendrite cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Photoreceptor distal connecting cilium Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Photoreceptor distal connecting cilium cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Distal portion of axoneme Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Distal portion of axoneme cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Basal distal dendrite Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Basal distal dendrite cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Apical distal dendrite Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Apical distal dendrite cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

bacterial-type flagellum basal body, distal rod, L ring Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the bacterial-type flagellum basal body, distal rod, L ring cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

bacterial-type flagellum basal body, distal rod Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the bacterial-type flagellum basal body, distal rod cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Distal spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distal spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive distal renal tubular acidosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive distal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Distal myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Autosomal recessive distal spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive distal spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked distal spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked distal spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal renal tubular acidosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal arthrogryposis Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Distal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Distal lower limb muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Distal lower limb amyotrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Distal hereditary motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distal hereditary motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant distal renal tubular acidosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant distal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive scapulohumeroperoneal distal myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Arthrogryposis multiplex congenita distal Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Arthrogryposis multiplex congenita distal phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Welander distal myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Welander distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal shortening of limbs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distal shortening of limbs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Finnish upper limb-onset distal myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Finnish upper limb-onset distal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distal/Left-sided colorectal cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Distal/Left-sided colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Distal colorectal cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Distal colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

PMC8104016-hcg-12-e002353-s006.xlsx-mTHP-1-LPS_Prom-Distal-RefSeq_Name_IRF6 Gene Set

From Rummagene Transcription Factor Associations 2026

target genes of the PMC8104016-hcg-12-e002353-s006.xlsx-mTHP-1-LPS_Prom-Distal-RefSeq_Name_IRF6 transcription factor from the Rummagene Transcription Factor Associations 2026 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.

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.