| Name |
|---|
PKDTS Genepolycystic kidney disease, infantile severe, with tuberous sclerosis |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
COPD GenePulmonary disease, chronic obstructive, severe early-onset |
LMBR1L Genelimb development membrane protein 1-like Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LGMD1H Genelimb girdle muscular dystrophy 1H (autosomal dominant) |
LGMD1G Genelimb girdle muscular dystrophy 1G (autosomal dominant) |
LMBR1 Genelimb development membrane protein 1 This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008] |
LBH Genelimb bud and heart development Involved in negative regulation of DNA-templated transcription; positive regulation of DNA-templated transcription; and regulation of MAPK cascade. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025] |
ANOP1 Geneanophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) |
severe limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Medullary thick ascending limb limb cell (MTAL limb cell)_Epithelium_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Medullary thick ascending limb limb cell (MTAL limb cell)_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
mesomelic/rhizomelic limb shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the mesomelic/rhizomelic limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Mesomelic/Rhizomelic Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mesomelic/Rhizomelic Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rhizo-Meso-Acromelic Limb Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rhizo-Meso-Acromelic Limb Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rhizomelic limb shortening Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rhizomelic limb shortening phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs non-severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs non-severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
shortening Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term shortening in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
positive regulation of nuclear-transcribed mrna poly(a) tail shortening Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of nuclear-transcribed mrna poly(a) tail shortening Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset. |
nuclear-transcribed mrna poly(a) tail shortening Gene SetFrom GO Biological Process Annotations 2015 genes participating in the nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of nuclear-transcribed mrna poly(a) tail shortening Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of nuclear-transcribed mrna poly(a) tail shortening biological process from the curated GO Biological Process Annotations 2015 dataset. |
mesomelic arm shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the mesomelic arm shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mesomelic leg shortening Gene SetFrom HPO Gene-Disease Associations genes associated with the mesomelic leg shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
shortening of the tibia Gene SetFrom HPO Gene-Disease Associations genes associated with the shortening of the tibia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
disproportionate shortening of the tibia Gene SetFrom HPO Gene-Disease Associations genes associated with the disproportionate shortening of the tibia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
shortening of all proximal phalanges of the fingers Gene SetFrom HPO Gene-Disease Associations genes associated with the shortening of all proximal phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proportionate shortening of all digits Gene SetFrom HPO Gene-Disease Associations genes associated with the proportionate shortening of all digits phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
shortening of the talar neck Gene SetFrom HPO Gene-Disease Associations genes associated with the shortening of the talar neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
shortening of all middle phalanges of the fingers Gene SetFrom HPO Gene-Disease Associations genes associated with the shortening of all middle phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal shortening of limbs Gene SetFrom 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. |
shortening of all phalanges of the toes Gene SetFrom HPO Gene-Disease Associations genes associated with the shortening of all 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 SetFrom 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. |
shortening of all phalanges of fingers Gene SetFrom HPO Gene-Disease Associations genes associated with the shortening of all phalanges of fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Shortening Of All Phalanges Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Shortening Of All Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Shortening Of All Proximal Phalanges Of The Fingers Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Shortening Of All Proximal Phalanges Of The Fingers in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Shortening Of All Distal Phalanges Gene SetFrom 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. |
Shortening Of All Middle Phalanges Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Shortening Of All Middle Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rhizomelic Arm Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rhizomelic Arm Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rhizomelic Leg Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rhizomelic Leg Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mesomelic Arm Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mesomelic Arm Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Distal Shortening Of Limbs Gene SetFrom 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. |
Mesomelic Leg Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mesomelic Leg Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Proportionate Shortening Of All Digits Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Proportionate Shortening Of All Digits in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Disproportionate Shortening Of The Tibia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Disproportionate Shortening Of The Tibia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Shortening Of The Tibia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Shortening Of The Tibia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Shortening Of The Talar Neck Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Shortening Of The Talar Neck in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fractional Shortening Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fractional Shortening in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2023 genes participating in the nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2023 dataset. |
nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2025 genes participating in the nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of nuclear-transcribed mRNA poly(A) tail shortening Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of nuclear-transcribed mRNA poly(A) tail shortening biological process from the curated GO Biological Process Annotations 2025 dataset. |
Distal shortening of limbs Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal shortening of limbs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Left ventricular fractional shortening Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Left ventricular fractional shortening phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Fractional shortening Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Fractional shortening phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, reducing body, X-linked, early-onset, severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 18, severe combined immunodeficiency variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperparathyroidism, neonatal severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency, atypical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, early-onset severe Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sialic acid storage disease, severe infantile type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Hyperparathyroidism, Neonatal Severe Primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Dengue from the curated CTD Gene-Disease Associations dataset. |
Abnormalities, Severe Teratoid Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset. |
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Polycystic kidneys, severe infantile with tuberous sclerosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe type iii hyperlipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome and severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe trauma. mortality Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe trauma. mortality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe childhood thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe childhood thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sars (severe acute respiratory syndrome) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyper-ige syndrome. severe eczema. atopy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe desmoid phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe desmoid phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild and severe substance abuse Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe malaria Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe malaria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
communicable diseases; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe acute radiotherapy side effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe hyperkinetic disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe hyperkinetic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis in blunt trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lymphopenia; scid; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe ulcerative colitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe ulcerative colitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe chronic neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe chronic neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe rsv bronchiolitis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe rsv bronchiolitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
outcome after severe injury Gene SetFrom GAD Gene-Disease Associations genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe sepsis after trauma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
immunologic deficiency syndromes; severe combined immunodeficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe photoaging of facial skin Gene SetFrom GAD Gene-Disease Associations genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
severe Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term severe in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Asthma (childhood, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
severe osteoporosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe platyspondyly Gene SetFrom HPO Gene-Disease Associations genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe photosensitivity Gene SetFrom HPO Gene-Disease Associations genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrops fetalis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe carpal ossification delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t-cell immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe combined immunodeficiency Gene SetFrom HPO Gene-Disease Associations genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe recurrent varicella Gene SetFrom HPO Gene-Disease Associations genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe visual impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe visual impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intellectual disability, severe Gene SetFrom HPO Gene-Disease Associations genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hydrocephalus Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe failure to thrive Gene SetFrom HPO Gene-Disease Associations genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe b lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe muscular hypotonia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe demyelination of the white matter Gene SetFrom HPO Gene-Disease Associations genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe t lymphocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe periodontitis Gene SetFrom HPO Gene-Disease Associations genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe global developmental delay Gene SetFrom HPO Gene-Disease Associations genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to il2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal dystrophy, early-onset severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
insulin resistance, severe, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, susceptibility to, bmiq9} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency due to ada deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
{obesity, severe, and type ii diabetes} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
obesity, severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{influenza, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, b cell-negative Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, athabascan type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset. |
polycystic kidney disease, infantile severe, with tuberous sclerosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary disease, chronic obstructive, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{malaria, severe, resistance to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, reducing body, x-linked, severe early-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Severe Acute Respiratory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Visual Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Visual Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoglycaemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoglycaemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Epstein Barr Virus Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Epstein Barr Virus Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hereditary Factor Viii Deficiency Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hereditary Factor Viii Deficiency Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sepsis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sepsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Sensorineural Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Severe Myoclonic Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dementia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dengue Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dengue in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Chronic Obstructive Pulmonary Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Chronic Obstructive Pulmonary Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Periodontitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Periodontitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autism, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autism, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Aplastic Anemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Intellectual Disability And Progressive Spastic Paraplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Intellectual Disability And Progressive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Congenital Microcephaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Congenital Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Expressive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mucopolysaccharidosis, Type Vi, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mucopolysaccharidosis, Type Vi, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Malnutrition Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Malnutrition in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Nonproliferative Diabetic Retinopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Nonproliferative Diabetic Retinopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alpha Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Fever With Thrombocytopenia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Fever With Thrombocytopenia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Alcohol Dependence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Alcohol Dependence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Bronchopulmonary Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Bronchopulmonary Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Persistent Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Persistent Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Acute Respiratory Infection Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Acute Respiratory Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Asthma With Fungal Sensitisation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Asthma With Fungal Sensitisation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Severe Refractory Exacerbation Of Asthma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Severe Refractory Exacerbation Of Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Granulocytopenia Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Granulocytopenia Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Beta Thalassemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Beta Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Varicella, Severe Recurrent Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Varicella, Severe Recurrent in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Major Depression With Psychotic Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Athabaskan Severe Combined Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Athabaskan Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Recurrent Major Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Recurrent Major Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe [Duchenne] Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe [Duchenne] Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dermatitis, Multiple Allergies, Metabolic Wasting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Receptive Language Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reaction To Severe Stress, And Adjustment Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reaction To Severe Stress, And Adjustment Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Copd, Severe Early-Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Copd, Severe Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe T-Cell Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe T-Cell Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Galactose Epimerase Deficiency, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Galactose Epimerase Deficiency, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Greig Cephalopolysyndactyly Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Greig Cephalopolysyndactyly Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Dehydration Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Dehydration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Left Ventricular Systolic Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Left Ventricular Systolic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Costello Syndrome, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Costello Syndrome, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hunter'S Syndrome, Severe Form Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hunter'S Syndrome, Severe Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Restriction, Severe, With Distinctive Facies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Restriction, Severe, With Distinctive Facies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Opioid Use Disorder, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Opioid Use Disorder, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early Childhood Onset Retinal Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early Childhood Onset Retinal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Laryngospasm, Severe Neonatal Episodic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Laryngospasm, Severe Neonatal Episodic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Global Developmental Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Muscular Hypotonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Diarrhea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe B Lymphocytopenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe B Lymphocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Dry Skin Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Dry Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Congenital Neutropenia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Congenital Neutropenia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Cutaneous Adverse Reactions (Smq) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Cutaneous Adverse Reactions (Smq) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early Severe Fetal Akinesia Sequence Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early Severe Fetal Akinesia Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Failure To Thrive Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Failure To Thrive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Photosensitivity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Photosensitivity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hearing Loss Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Generalized Osteoporosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Generalized Osteoporosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Platyspondyly Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Platyspondyly in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Headache Severe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Headache Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Lactic Acidosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Lactic Acidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Speech Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Back Pain Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Back Pain in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrocephalus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Influenza, Severe, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Influenza, Severe, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Demyelination Of The White Matter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Demyelination Of The White Matter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Hydrops Fetalis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Hydrops Fetalis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Gastroesophageal Reflux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Gastroesophageal Reflux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Feeding Problems Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Feeding Problems in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Carpal Ossification Delay Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Carpal Ossification Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe congenital neutropenia type 4 (G6PC3) Gene Setproteins participating in the Severe congenital neutropenia type 4 (G6PC3) pathway from the Reactome Pathways 2024 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital neutropenia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked severe combined immunodeficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe acute respiratory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe combined immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe pre-eclampsia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe pre-eclampsia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual disability-severe speech delay-mild dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-severe COVID-19 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-severe COVID-19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
adult-onset severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease adult-onset severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe combined immunodeficiency with sensitivity to ionizing radiation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe nonproliferative diabetic retinopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Persistent severe asthma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Persistent severe asthma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Severe congenital neutropenia 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital neutropenia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Susceptibility to severe coronavirus disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe coronavirus disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hydrocephalus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hydrocephalus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early onset and severe retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset and severe retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodegenerative syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodegenerative syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Athabaskan severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Athabaskan severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-childhood-onset retinal dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-childhood-onset retinal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe global developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked myotubular myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal severe primary hyperparathyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal severe primary hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe combined immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe myoclonic epilepsy in infancy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
ZAP70-Related Severe Combined Immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the ZAP70-Related Severe Combined Immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe sensorineural hearing impairment Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe sensorineural hearing impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-severe speech delay-mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-progressive spastic diplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-progressive spastic diplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARD11 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe X-linked mitochondrial encephalomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe X-linked mitochondrial encephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CTPS1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe underweight in infancy childhood and adolescence Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe underweight in infancy childhood and adolescence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neurodevelopmental delay Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spastic paraplegia-severe developmental delay-epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CARMIL2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Susceptibility to severe COVID- Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Susceptibility to severe COVID- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intermediate severe Salla disease Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intermediate severe Salla disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to CORO1A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to IKK2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe dermatitis-multiple allergies-metabolic wasting syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe dermatitis-multiple allergies-metabolic wasting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe muscular hypotonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe muscular hypotonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
CV-A6-associated hand, foot, and mouth disease (severe vs mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the CV-A6-associated hand, foot, and mouth disease (severe vs mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis I) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis I) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe COVID-19 infection with respiratory failure (analysis II) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe COVID-19 infection with respiratory failure (analysis II) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Statin-induced myopathy (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Statin-induced myopathy (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pelvic organ prolapse (moderate/severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pelvic organ prolapse (moderate/severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe influenza A (H1N1) infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe influenza A (H1N1) infection phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe malaria (adjusted for sickle cell variant rs334) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aplastic anemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aplastic anemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe aortic features in Marfan syndrome Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe skin toxicity response to cetuximab in colorectal cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe skin toxicity response to cetuximab in colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma (moderate or severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma (moderate or severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acne (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Chronic obstructive pulmonary disease (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Osteoarthritis (hand, severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Osteoarthritis (hand, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Myopia (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe diabetic retinopathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe diabetic retinopathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypospadias (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypospadias (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Glucosuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Glucosuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hematuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hematuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Proteinuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Proteinuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ketonuria (moderate to severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ketonuria (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood asthma with severe exacerbations Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood asthma with severe exacerbations phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Treatment response for severe sepsis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to mepolizumab in severe asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to mepolizumab in severe asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced acute severe leukopenia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Thiopurine-induced severe alopecia in inflammatory bowel disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Thiopurine-induced severe alopecia in inflammatory bowel disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Erosive tooth wear (severe vs none or mild) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Erosive tooth wear (severe vs none or mild) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe progression in rheumatoid arthritis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe progression in rheumatoid arthritis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe bacterial meningitis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe bacterial meningitis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe exacerbations in childhood asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe exacerbations in childhood asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gingival inflammation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gingival inflammation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe gastric atrophy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe gastric atrophy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-deficient type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-deficient type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe insulin-resistant type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe insulin-resistant type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe autoimmune type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe autoimmune type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Severe coronary stenosis (young age of onset interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Severe coronary stenosis (young age of onset interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
interstitial nucleus of the posterior limb of the anterior commissure Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in interstitial nucleus of the posterior limb of the anterior commissure relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, upper limb, layer 2/3 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, upper limb, layer 2/3 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, upper limb Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, upper limb relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, lower limb, layer 2/3 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, lower limb, layer 2/3 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, lower limb Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, lower limb relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, lower limb, layer 4 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, lower limb, layer 4 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, lower limb, layer 5 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, lower limb, layer 5 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, lower limb, layer 1 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, lower limb, layer 1 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, lower limb, layer 6a Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, lower limb, layer 6a relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, lower limb, layer 6b Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, lower limb, layer 6b relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, upper limb, layer 1 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, upper limb, layer 1 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, upper limb, layer 5 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, upper limb, layer 5 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, upper limb, layer 4 Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, upper limb, layer 4 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, upper limb, layer 6a Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, upper limb, layer 6a relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Primary somatosensory area, upper limb, layer 6b Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Primary somatosensory area, upper limb, layer 6b relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
upper limb region of M1 Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in upper limb region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
lower limb region of M1 Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in lower limb region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2S Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2S phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenia, limb-girdle, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenia, limb-girdle, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenia, limb-girdle, with tubular aggregates Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenia, limb-girdle, with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anophthalmos with limb anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anophthalmos with limb anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaepiphyseal dysplasia short limb-hand type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophies, Limb-Girdle Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophies, Limb-Girdle from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy type 2F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2F from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2C from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2B from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 2J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2J from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 2L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2L from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 1B from the curated CTD Gene-Disease Associations dataset. |
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy type 2H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2H from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy, type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy, type 2E from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 1C from the curated CTD Gene-Disease Associations dataset. |
Muscular dystrophy, limb-girdle, type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular dystrophy, limb-girdle, type 1A from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Limb-Girdle, Type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Limb-Girdle, Type 2G from the curated CTD Gene-Disease Associations dataset. |
Limb-girdle muscular dystrophy type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-girdle muscular dystrophy type 2A from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 from the curated CTD Gene-Disease Associations dataset. |
Limb Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset. |
Limb-mammary syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-mammary syndrome from the curated CTD Gene-Disease Associations dataset. |
Limb-Girdle Muscular Dystrophy, Type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb-Girdle Muscular Dystrophy, Type 1G from the curated CTD Gene-Disease Associations dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease limb-girdle muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mononeuritis of upper limb and mononeuritis multiplex Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mononeuritis of upper limb and mononeuritis multiplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
periodic limb movement disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease periodic limb movement disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mononeuritis of lower limb Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mononeuritis of lower limb in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
muscular dystrophies, limb-girdle Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular dystrophies, limb-girdle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
limb deformities, congenital; rothmund-thomson syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease limb deformities, congenital; rothmund-thomson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
limb deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease limb deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
muscular dystrophies; muscular dystrophies, limb-girdle Gene SetFrom GAD Gene-Disease Associations genes associated with the disease muscular dystrophies; muscular dystrophies, limb-girdle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
limb Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term limb in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
LAMA2_Deficiency_GDS3371_595_mouse_Hind limb skeletal muscle (4-week old dy3K/dy3K animals) Gene SetFrom GEO Signatures of Differentially Expressed Genes for Gene Perturbations genes differentially expressed following the LAMA2_Deficiency_GDS3371_595_mouse_Hind limb skeletal muscle (4-week old dy3K/dy3K animals) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. |
limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
limb epidermis development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the limb epidermis development biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic limb morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic limb morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
limb morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the limb morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
metanephric descending thin limb development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the metanephric descending thin limb development biological process from the curated GO Biological Process Annotations 2015 dataset. |
descending thin limb development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the descending thin limb development biological process from the curated GO Biological Process Annotations 2015 dataset. |
ascending thin limb development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ascending thin limb development biological process from the curated GO Biological Process Annotations 2015 dataset. |
metanephric thick ascending limb development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the metanephric thick ascending limb development biological process from the curated GO Biological Process Annotations 2015 dataset. |
metanephric ascending thin limb development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the metanephric ascending thin limb development biological process from the curated GO Biological Process Annotations 2015 dataset. |
thick ascending limb development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the thick ascending limb development biological process from the curated GO Biological Process Annotations 2015 dataset. |
embryonic skeletal limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the embryonic skeletal limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
limb development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the limb development biological process from the curated GO Biological Process Annotations 2015 dataset. |
limb bud formation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the limb bud formation biological process from the curated GO Biological Process Annotations 2015 dataset. |
Bone mineral density (paediatric, upper limb) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Bone mineral density (paediatric, upper limb) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Bone mineral density (paediatric, lower limb) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Bone mineral density (paediatric, lower limb) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
abnormality of upper limb bone Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of upper limb bone phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of the lower limb Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the lower limb phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of the upper limb Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the upper limb phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of lower limb joint Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of lower limb joint phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
predominantly lower limb lymphedema Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the predominantly lower limb lymphedema phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of upper limb metaphysis Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of upper limb metaphysis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of lower limb bone Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of lower limb bone phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of limb bone morphology Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of limb bone morphology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
anomaly of the upper limb diaphyses Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the anomaly of the upper limb diaphyses phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of limb bone Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of limb bone phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
anomaly of the limb diaphyses Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the anomaly of the limb diaphyses phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
limb hypertonia Gene SetFrom HPO Gene-Disease Associations genes associated with the limb hypertonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb pain Gene SetFrom HPO Gene-Disease Associations genes associated with the limb pain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of lower limb bone Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of lower limb bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal upper limb muscle weakness Gene SetFrom 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. |
abnormality of upper limb bone Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of upper limb bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the lower limb Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the lower limb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb metaphyseal widening Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb metaphyseal widening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb-girdle muscular dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the limb-girdle muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the upper limb Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the upper limb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
generalized limb muscle atrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the generalized limb muscle atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of upper limb epiphysis morphology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of upper limb epiphysis morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb peromelia Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb peromelia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb ataxia Gene SetFrom HPO Gene-Disease Associations genes associated with the limb ataxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb hyperreflexia Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb hyperreflexia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of upper limb metaphysis Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of upper limb metaphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb dysmetria Gene SetFrom HPO Gene-Disease Associations genes associated with the limb dysmetria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of limb bone Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of limb bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of upper limb joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of upper limb joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
disproportionate short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the disproportionate short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hemihypotrophy of lower limb Gene SetFrom HPO Gene-Disease Associations genes associated with the hemihypotrophy of lower limb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb hypertonia Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb hypertonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb dystonia Gene SetFrom HPO Gene-Disease Associations genes associated with the limb dystonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the limb tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb postural tremor Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb postural tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal upper limb amyotrophy Gene SetFrom 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. |
distal lower limb amyotrophy Gene SetFrom 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. |
abnormality of lower-limb metaphyses Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of lower-limb metaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal lower limb muscle weakness Gene SetFrom 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. |
upper limb amyotrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb undergrowth Gene SetFrom HPO Gene-Disease Associations genes associated with the limb undergrowth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb phocomelia Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb phocomelia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb fasciculations Gene SetFrom HPO Gene-Disease Associations genes associated with the limb fasciculations phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb spasticity Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb spasticity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal upper limb amyotrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal upper limb amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb duplication Gene SetFrom HPO Gene-Disease Associations genes associated with the limb duplication phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of lower limb epiphysis morphology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of lower limb epiphysis morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb joint contracture Gene SetFrom HPO Gene-Disease Associations genes associated with the limb joint contracture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
childhood onset short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the childhood onset short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb amyotrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb undergrowth Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb undergrowth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
flared upper limb metaphysis Gene SetFrom HPO Gene-Disease Associations genes associated with the flared upper limb metaphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb pain Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb pain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of lower limb joint Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of lower limb joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb spasticity Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb spasticity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb-girdle muscle atrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the limb-girdle muscle atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
flared lower limb metaphysis Gene SetFrom HPO Gene-Disease Associations genes associated with the flared lower limb metaphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower-limb metaphyseal irregularity Gene SetFrom HPO Gene-Disease Associations genes associated with the lower-limb metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb undergrowth Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb undergrowth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
anomaly of the limb diaphyses Gene SetFrom HPO Gene-Disease Associations genes associated with the anomaly of the limb diaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
predominantly lower limb lymphedema Gene SetFrom HPO Gene-Disease Associations genes associated with the predominantly lower limb lymphedema phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of limb epiphysis morphology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of limb epiphysis morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proximal lower limb amyotrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the proximal lower limb amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of limb bone morphology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of limb bone morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
limb-girdle muscle weakness Gene SetFrom HPO Gene-Disease Associations genes associated with the limb-girdle muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lower limb asymmetry Gene SetFrom HPO Gene-Disease Associations genes associated with the lower limb asymmetry phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
upper limb muscle hypoplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the upper limb muscle hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Muscular Dystrophies, Limb-Girdle Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Muscular Dystrophies, Limb-Girdle phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Limb Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Limb Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Limb-bud-and-heart Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Limb-bud-and-heart protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Limb expression 1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Limb expression 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
abnormal loop of henle descending limb morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal loop of henle descending limb morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb position Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb position phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb paddle morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb paddle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
small limb buds Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the small limb buds phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent limb buds Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent limb buds phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb mesenchyme morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb mesenchyme morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb development Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal loop of henle ascending limb thick segment morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal loop of henle ascending limb thick segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb bud morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb bud morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
broad limb buds Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the broad limb buds phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb long bone morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb long bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal loop of henle ascending limb morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal loop of henle ascending limb morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
delayed limb development Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the delayed limb development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb posture Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb posture phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
impaired limb coordination Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the impaired limb coordination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal limb bone morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal limb bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
limb grasping Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the limb grasping phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
robin sequence with cleft mandible and limb anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the robin sequence with cleft mandible and limb anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2c Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2c phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaepiphyseal dysplasia, short limb-hand type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset. |
microphthalmia with limb anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the microphthalmia with limb anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
?muscular dystrophy, limb-girdle, type 2r Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?muscular dystrophy, limb-girdle, type 2r phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2q Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2q phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2s Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2s phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2d Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2d phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2e Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2e phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2f Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2f phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2g Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2g phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2a Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2b Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2l Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2l phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2h Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2h phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 2j Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 2j phenotype from the curated OMIM Gene-Disease Associations dataset. |
?muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
limb-mammary syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the limb-mammary syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia, limb-girdle, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia, limb-girdle, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1h Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1h phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
limb-girdle muscular dystrophy, type 1g Gene SetFrom OMIM Gene-Disease Associations genes associated with the limb-girdle muscular dystrophy, type 1g phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1e Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1e phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1f Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1f phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1a Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1a phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, limb-girdle, type 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, limb-girdle, type 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d phenotype from the curated OMIM Gene-Disease Associations dataset. |
limb Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue limb from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
limb Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue limb in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
limb bud Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue limb bud in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Limb-Mammary Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Mammary Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb Ischemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Limb Muscle Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Limb Muscle Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Upper Limb Asymmetry Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Upper Limb Asymmetry in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Lower Limb Amyotrophy Gene SetFrom 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. |
Upper Limb Amyotrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Upper Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Critical Lower Limb Ischemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Critical Lower Limb Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Limb Girdle Muscular Dystrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Limb Girdle Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Upper Limb Peromelia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Upper Limb Peromelia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of Limb Bone Morphology Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of Limb Bone Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Upper Limb Amyotrophy Gene SetFrom 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. |
Deformity Of Lower Limb Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deformity Of Lower Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Muscle Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Muscle Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of Lower Limb Joint Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of Lower Limb Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb Apraxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb Apraxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Myopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vertebral, Cardiac, Renal, And Limb Defects Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limb-Girdle Muscular Dystrophy, Type 1G (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limb-Girdle Muscular Dystrophy, Type 1G (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Phocomelia Of Upper Limb Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Phocomelia Of Upper Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Deep Vein Thrombosis Of Lower Limb Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Deep Vein Thrombosis Of Lower Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1A Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Limb Girdle Muscular Dystrophy Type 1A in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Gene SetFrom 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. |
Limb Hypertonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limb Hypertonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limb Joint Contracture Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limb Joint Contracture in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lower Limb Hyperreflexia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Limb Hyperreflexia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Tremor, Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Tremor, Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fatigable Weakness Of Distal Limb Muscles Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fatigable Weakness Of Distal Limb Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fatiguable Weakness Of Proximal Limb Muscles Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fatiguable Weakness Of Proximal Limb Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limb-Girdle Muscle Weakness Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limb-Girdle Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Muscle Weakness Of Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Muscle Weakness Of Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Limb Spasticity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Limb Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Limb Hypertonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Limb Hypertonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Weakness Of Limb Muscles Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Weakness Of Limb Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Swelling Of Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Swelling Of Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Distal Lower Limb Muscle Weakness Gene SetFrom 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 SetFrom 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. |
Lower Limb Ischemia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Limb Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lower Limb Hypertonia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Limb Hypertonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lower Limb Spasticity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Limb Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pain In Lower Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pain In Lower Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Disproportionate Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Disproportionate Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Limb Postural Tremor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Limb Postural Tremor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lower Limb Amyotrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of The Upper Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Upper Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Telescoping Of Limb At Hip Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Telescoping Of Limb At Hip in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hemihypotrophy Of Lower Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hemihypotrophy Of Lower Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limb Myoclonus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limb Myoclonus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limb Dysmetria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limb Dysmetria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Proximal Lower Limb Amyotrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Proximal Lower Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pain In Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pain In Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Childhood Onset Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Childhood Onset Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Lower-Limb Motor Evoked Potentials Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Lower-Limb Motor Evoked Potentials in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Predominantly Lower Limb Lymphedema Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Predominantly Lower Limb Lymphedema in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Proximal Upper Limb Amyotrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Proximal Upper Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Limb Dysmetria Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Limb Dysmetria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Limb Fasciculations Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Limb Fasciculations in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Limb Muscle Hypertrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Limb Muscle Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Lower Limb Peromelia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Lower Limb Peromelia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Proximal Upper Limb Muscle Hypertrophy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Proximal Upper Limb Muscle Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Congenital Overgrowth Of Lower Limb Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Congenital Overgrowth Of Lower Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Upper Limb Muscle Hypoplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Upper Limb Muscle Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of Upper Limb Bone Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Upper Limb Bone in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of Upper Limb Joint Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Upper Limb Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
limb morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the limb morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
limb development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the limb development biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic limb morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic limb morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
metanephric ascending thin limb development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the metanephric ascending thin limb development biological process from the curated GO Biological Process Annotations 2023 dataset. |
metanephric thick ascending limb development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the metanephric thick ascending limb development biological process from the curated GO Biological Process Annotations 2023 dataset. |
embryonic skeletal limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the embryonic skeletal limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
limb epidermis development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the limb epidermis development biological process from the curated GO Biological Process Annotations 2023 dataset. |
ascending thin limb development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ascending thin limb development biological process from the curated GO Biological Process Annotations 2023 dataset. |
thick ascending limb development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the thick ascending limb development biological process from the curated GO Biological Process Annotations 2023 dataset. |
PBX-27287812-CHIP-SEQ-EMBYONIC-LIMB-MOUSE Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the PBX-27287812-CHIP-SEQ-EMBYONIC-LIMB-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
EP300-20729851-FORBRAIN-MIDBRAIN-LIMB-HEART-MOUSE Gene SetFrom ChEA Transcription Factor Targets 2022 target genes of the EP300-20729851-FORBRAIN-MIDBRAIN-LIMB-HEART-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. |
abnormal limb mesenchyme morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb mesenchyme morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb development Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb bud morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb bud morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
broad limb buds Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the broad limb buds phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
limb grasping Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the limb grasping phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb posture Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb posture phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
small limb buds Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the small limb buds phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb bone morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb bone morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent limb buds Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent limb buds phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
impaired limb coordination Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the impaired limb coordination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb muscle morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb muscle morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal loop of Henle descending limb morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal loop of Henle descending limb morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal loop of Henle ascending limb thick segment morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal loop of Henle ascending limb thick segment morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
rhizomelic limb Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the rhizomelic limb phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb long bone morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb long bone morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
delayed limb development Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed limb development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb paddle morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb paddle morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal limb position Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal limb position phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased distal limb length Gene SetFrom 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. |
limb paralysis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the limb paralysis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
limb grasping Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the limb grasping phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal limb bud morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal limb bud morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal limb morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal limb morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal limb position Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal limb position phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Human - Kidney - L1 - Ascending Thin Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L1 - Ascending Thin Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L1 - Descending Thin Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L1 - Descending Thin Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L1 - Thick Ascending Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L1 - Thick Ascending Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L2 - Ascending Thin Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L2 - Ascending Thin Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L2 - Cortical Thick Ascending Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L2 - Cortical Thick Ascending Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L2 - Descending Thin Limb Type 1 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L2 - Descending Thin Limb Type 1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L2 - Descending Thin Limb Type 2 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L2 - Descending Thin Limb Type 2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L2 - Descending Thin Limb Type 3 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L2 - Descending Thin Limb Type 3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L2 - Medullary Thick Ascending Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L2 - Medullary Thick Ascending Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L3 - Ascending Thin Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L3 - Ascending Thin Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L3 - Cortical Thick Ascending Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L3 - Cortical Thick Ascending Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L3 - Descending Thin Limb Type 1 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L3 - Descending Thin Limb Type 1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L3 - Descending Thin Limb Type 2 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L3 - Descending Thin Limb Type 2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L3 - Descending Thin Limb Type 3 Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L3 - Descending Thin Limb Type 3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Human - Kidney - L3 - Medullary Thick Ascending Limb Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Kidney - L3 - Medullary Thick Ascending Limb cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Proximal limb bone cell_Bone_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Proximal limb bone cell_Bone_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Limb mesenchymal cell_Embryo_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Limb mesenchymal cell_Embryo_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Proliferative cell_Distal limb mesenchyme_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Proliferative cell_Distal limb mesenchyme_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Proximal limb bud cell_Limb bud_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Proximal limb bud cell_Limb bud_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Medial limb bud cell_Limb bud_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Medial limb bud cell_Limb bud_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Distal limb bud cell_Limb bud_Mouse Gene SetFrom 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. |
Short Loop Descending Limb cell_Kidney_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Short Loop Descending Limb cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Thin Ascending Limb cell_Kidney_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Thin Ascending Limb cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Long Descending Limb (Outer Medulla) cell_Kidney_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Long Descending Limb (Outer Medulla) cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Thick Ascending Limb cell_Kidney_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Thick Ascending Limb cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Thick Ascending Limb cell_Kidney_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Thick Ascending Limb cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Descending thin limb cell_Kidney_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Descending thin limb cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Loop of Henle thick ascending limb cell (TAL)_Kidney_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Loop of Henle thick ascending limb cell (TAL)_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Descending thin limb of LOH cell_Kidney_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Descending thin limb of LOH cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
Descending thin limb type 1 cell (DTL type 1 cell)_Epithelium_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Descending thin limb type 1 cell (DTL type 1 cell)_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Cortical thick ascending limb cell (CTAL cell)_Epithelium_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Cortical thick ascending limb cell (CTAL cell)_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Thin Ascending Limb cell_Epithelium_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Thin Ascending Limb cell_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Kidney_CT1_Medullary Thick Ascending Limb Cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Medullary Thick Ascending Limb Cell cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Descending Thin Limb Cell Type 2 Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Descending Thin Limb Cell Type 2 cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Descending Thin Limb Cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Descending Thin Limb Cell cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Descending Thin Limb Cell Type 1 Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Descending Thin Limb Cell Type 1 cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Descending Thin Limb Cell Type 3 Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Descending Thin Limb Cell Type 3 cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Ascending Thin Limb Cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Ascending Thin Limb Cell cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Thick Ascending Limb Cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Thick Ascending Limb Cell cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Cortical Thick Ascending Limb Cell Gene SetFrom HuBMAP ASCT+B Annotations biomarker genes for the Kidney_CT1_Cortical Thick Ascending Limb Cell cell type from the HuBMAP ASCT+B dataset. |
Kidney_CT1_Ascending Thin Limb Cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Ascending Thin Limb Cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Kidney_CT1_Cortical Thick Ascending Limb Cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Cortical Thick Ascending Limb Cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Kidney_CT1_Descending Thin Limb Cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Descending Thin Limb Cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Kidney_CT1_Descending Thin Limb Cell Type 1 Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Descending Thin Limb Cell Type 1 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Kidney_CT1_Descending Thin Limb Cell Type 2 Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Descending Thin Limb Cell Type 2 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Kidney_CT1_Descending Thin Limb Cell Type 3 Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Descending Thin Limb Cell Type 3 cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Kidney_CT1_Medullary Thick Ascending Limb Cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Medullary Thick Ascending Limb Cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
Kidney_CT1_Thick Ascending Limb Cell Gene SetFrom HuBMAP ASCT+B Augmented with RNA-seq Coexpression biomarker genes for the Kidney_CT1_Thick Ascending Limb Cell cell type from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. |
limb morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the limb morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
limb development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the limb development biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic limb morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic limb morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
metanephric ascending thin limb development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the metanephric ascending thin limb development biological process from the curated GO Biological Process Annotations 2025 dataset. |
metanephric thick ascending limb development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the metanephric thick ascending limb development biological process from the curated GO Biological Process Annotations 2025 dataset. |
embryonic skeletal limb joint morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the embryonic skeletal limb joint morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
limb epidermis development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the limb epidermis development biological process from the curated GO Biological Process Annotations 2025 dataset. |
ascending thin limb development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the ascending thin limb development biological process from the curated GO Biological Process Annotations 2025 dataset. |
thick ascending limb development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the thick ascending limb development biological process from the curated GO Biological Process Annotations 2025 dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease limb-girdle muscular dystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Microphthalmia with limb anomalies Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Microphthalmia with limb anomalies from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Microphthalmia with limb anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microphthalmia with limb anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2D Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2E Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2E in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Limb ischemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Limb ischemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
microcephaly, short stature, and limb abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, short stature, and limb abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2S Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2S in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Periodic limb movement disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Periodic limb movement disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mononeuritis of upper limb and mononeuritis multiplex Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mononeuritis of upper limb and mononeuritis multiplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2H Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2H in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2M Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2M in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2K Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2K in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mononeuritis of lower limb Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mononeuritis of lower limb 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 SetFrom 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 recessive limb-girdle muscular dystrophy type 2X Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2X in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2J Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2J in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2G Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2G in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2L Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2L in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2I Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2I in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2F Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2F in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2Q Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2Q in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2Y Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2Y in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2W Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2W in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2T Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2T in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2O Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2O in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2N Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2N in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2U Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2U in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy type 1H Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant limb-girdle muscular dystrophy type 1H in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2P Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2P in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondylometaepiphyseal dysplasia, short limb-hand type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondylometaepiphyseal dysplasia, short limb-hand type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy type 2Z Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive limb-girdle muscular dystrophy type 2Z in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Diplegia of upper limb Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diplegia of upper limb in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Limb Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Limb from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Limb Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Limb in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Limb bud Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Limb bud in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Lethal short-limb skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal short-limb skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive limb-girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive limb-girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lower limb amyotrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lower limb amyotrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lower limb muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lower limb muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset generalized limb-onset dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset generalized limb-onset dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distal lower limb muscle weakness Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal lower limb amyotrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lower-limb joint contracture Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lower-limb joint contracture phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant limb-girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant limb-girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscular dystrophy due to POMK deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Proximal lower limb amyotrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Proximal lower limb amyotrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb-girdle muscle atrophy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-girdle muscle atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb dystonia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb dystonia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb undergrowth Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb undergrowth phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Oromandibular-limb hypogenesis spectrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oromandibular-limb hypogenesis spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lower limb hyperreflexia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lower limb hyperreflexia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Limb pain Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb pain phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lower limb spasticity Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lower limb spasticity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Finnish upper limb-onset distal myopathy Gene SetFrom 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. |
Limb-mammary syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Limb-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Bone mineral density (paediatric, upper limb) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bone mineral density (paediatric, upper limb) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bone mineral density (paediatric, lower limb) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bone mineral density (paediatric, lower limb) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |