Developmental And Speech Delay Due To Sox5 Deficiency

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Results for "Developmental And Speech Delay Due To Sox5 Deficiency": 1001 gene sets

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Developmental And Speech Delay Due To Sox5 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Growth delay due to insulin-like growth factor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Speech Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Speech Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Speech Delay Gene Set From 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.
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set From 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.
Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set From 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.
Growth retardation, developmental delay, coarse facies, and early death Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Obesity, hyperphagia, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset.
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset.
obesity, hyperphagia, and developmental delay Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, hyperphagia, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly, seizures, and developmental delay Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly, seizures, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.
?obesity, hyperphagia, and developmental delay Gene Set From OMIM Gene-Disease Associations genes associated with the ?obesity, hyperphagia, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.
growth retardation, developmental delay, coarse facies, and early death Gene Set From OMIM Gene-Disease Associations genes associated with the growth retardation, developmental delay, coarse facies, and early death phenotype from the curated OMIM Gene-Disease Associations dataset.
sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set From OMIM Gene-Disease Associations genes associated with the sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.
Developmental Delay, Epilepsy, And Neonatal Diabetes Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Delay, Epilepsy, And Neonatal Diabetes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Brachycephaly, Trichomegaly, And Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Brachycephaly, Trichomegaly, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene Set From 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.
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Plantar Lipomatosis, Unusual Facies, And Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Plantar Lipomatosis, Unusual Facies, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac, Facial, And Digital Anomalies With Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac, Facial, And Digital Anomalies With Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene Set From 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.
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
microcephaly, seizures, and developmental delay Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease microcephaly, seizures, and developmental delay from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
microcephaly, seizures, and developmental delay Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, seizures, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental delay and seizures with or without movement abnormalities Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
brachycephaly, trichomegaly, and developmental delay Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease brachycephaly, trichomegaly, and developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental delay, hypotonia, and impaired language Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay, hypotonia, and impaired language in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental delay and seizures Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental delay and seizures phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
moderate global developmental delay Gene Set From HPO Gene-Disease Associations genes associated with the moderate global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
mild global developmental delay Gene Set From HPO Gene-Disease Associations genes associated with the mild global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
global developmental delay Gene Set From HPO Gene-Disease Associations genes associated with the global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
severe global developmental delay Gene Set From 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.
Global Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Profound Global Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Profound Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Delay (Disorder) Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Delay (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Severe Global Developmental Delay Gene Set From 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.
Mild Global Developmental Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Moderate Global Developmental Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Moderate Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Pili Torti Developmental Delay Neurological Abnormalities Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Pili Torti Developmental Delay Neurological Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Developmental Delay, Mild Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Delay, Mild in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
behavioral developmental delay Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the behavioral developmental delay phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
motor developmental delay Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the motor developmental delay phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Congenital limbs-face contractures-hypotonia-developmental delay syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital limbs-face contractures-hypotonia-developmental delay syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Global developmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Cardiac anomalies - developmental delay - facial dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac anomalies - developmental delay - facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe global developmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene Set From 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.
Developmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Macrocephaly-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrocephaly-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pancytopenia-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Moderate global developmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Moderate global developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
GNAO1-related developmental delay-seizures-movement disorder spectrum Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the GNAO1-related developmental delay-seizures-movement disorder spectrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene Set From 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.
Short stature-brachydactyly-obesity-global developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-brachydactyly-obesity-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene Set From 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.
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pili torti-developmental delay-neurological abnormalities syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pili torti-developmental delay-neurological abnormalities syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SEPHS1-related developmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SEPHS1-related developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
GRIN2B-related developmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the GRIN2B-related developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
sox5 Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term sox5 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
SOX5 Gene Set From JASPAR Predicted Transcription Factor Targets target genes of the SOX5 transcription factor predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
SOX5 Gene Set From MotifMap Predicted Transcription Factor Targets target genes of the SOX5 transcription factor predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
SOX5 Gene Set From Pathway Commons Protein-Protein Interactions interacting proteins for SOX5 from the Pathway Commons Protein-Protein Interactions dataset.
Sox5 Gene Set From JASPAR Predicted Mouse Transcription Factor Targets 2025 target genes of the Sox5 transcription factor predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2925 dataset.
SOX5 Gene Set From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas genes differentially expressed following the SOX5 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.
Growth delay due to insulin-like growth factor I resistance Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set From ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset.
delayed speech and language development Gene Set From HPO Gene-Disease Associations genes associated with the delayed speech and language development phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
?rolandic epilepsy, mental retardation, and speech dyspraxia Gene Set From OMIM Gene-Disease Associations genes associated with the ?rolandic epilepsy, mental retardation, and speech dyspraxia phenotype from the curated OMIM Gene-Disease Associations dataset.
epilepsy, focal, with speech disorder and with or without mental retardation Gene Set From OMIM Gene-Disease Associations genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Delayed Speech And Language Development Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Speech And Language Development in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Speech And Language Abnormalities Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Speech And Language Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Neurodevelopmental disorder with speech impairment and dysmorphic facies Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neurodevelopmental disorder with speech impairment and dysmorphic facies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Delayed speech and language development Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Delayed speech and language development phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.
Constitutional Delay Of Growth And Puberty Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Constitutional Delay Of Growth And Puberty in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Language delay and attention deficit-hyperactivity disorder/cognitive impairment Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Language delay and attention deficit-hyperactivity disorder/cognitive impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
SCID due to ADA deficiency, delayed onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to protein S deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gaucher disease, atypical, due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemolytic anemia due to hexokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex I deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocysteinemia due to MTHFR deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to ficolin 3 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypermethioninemia due to adenosine kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria due to MTHFR deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Leigh syndrome due to mitochondrial complex II deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Obesity, severe, due to leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Adenylate kinase deficiency, hemolytic anemia due to Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
Congenital thrombotic disease, due to Protein C deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set From 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.
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.
{chronic infections, due to mbl deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to hrg deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to il2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to phosphofructokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
nephropathy due to cfhr5 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.
?isolated growth hormone deficiency due to defect in ghrf Gene Set From OMIM Gene-Disease Associations genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to heparin cofactor ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin receptor deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
glucocorticoid deficiency, due to acth unresponsiveness Gene Set From OMIM Gene-Disease Associations genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione peroxidase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
lacticacidemia due to pdx1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
muscular dystrophy, congenital, due to itga7 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
anemia, hemolytic, due to umph1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
homocystinuria due to mthfr deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
severe combined immunodeficiency due to ada deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex i deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
cirrhosis due to liver phosphorylase kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
metachromatic leukodystrophy due to sap-b deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
obesity, morbid, due to leptin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome, due to cox deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperammonemia due to carbonic anhydrase va deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to g6pd deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione synthetase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to adenylate kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to glutathione reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
emphysema due to aat deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to antithrombin iii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
aica-ribosiduria due to atic deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoaldosteronism, congenital, due to cmo i deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial cox4 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease due to deficiency of ncf-2 Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.
chronic granulomatous disease due to deficiency of ncf-1 Gene Set From OMIM Gene-Disease Associations genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set From OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set From OMIM Gene-Disease Associations genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
hypermethioninemia due to adenosine kinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to cytochrome c oxidase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
neurodegeneration due to cerebral folate transport deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to ficolin 3 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
leigh syndrome due to mitochondrial complex 1 deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to triosephosphate isomerase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
{resistance to malaria due to g6pd deficiency} Gene Set From OMIM Gene-Disease Associations genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.
hemolytic anemia due to hexokinase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy due to cpt ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
emphysema-cirrhosis, due to aat deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
?male infertility due to acrosin deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy due to myoadenylate deaminase deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.
Scid Due To Ada Deficiency, Early-Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Antibody Deficiency Due To Defect In Cd19 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Anemia Due To Hexokinase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency 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 Set From 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 Set From 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.
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteomalacia Due To Vitamin D Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Thrombophilia due to HRG deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant thrombophilia due to protein C deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant thrombophilia due to protein S deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set From 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.
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SCID due to ADA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive ataxia due to ubiquinone deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to acid maltase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set From 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.
Immunodeficiency due to ficolin3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neonatal intrahepatic cholestasis due to citrin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to growth hormone secretagogue receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Interstitial lung disease due to ABCA3 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to leptin receptor gene deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ehlers-Danlos syndrome due to tenascin-X deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to partial GHR deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set From 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.
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to CD3gamma deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Leigh syndrome due to mitochondrial complex IV deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to partial RAG1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to ZAP70 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Thrombophilia due to protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to pro-opiomelanocortin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Gaucher disease due to saposin C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Krabbe disease due to saposin A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to melanocortin 4 receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to HNF1A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Encephalopathy due to GLUT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to glucokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to muscle beta-enolase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to LRBA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set From 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.
Combined immunodeficiency due to STK4 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to STIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Epidermolysis bullosa simplex due to plakophilin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARD11 deficiency Gene Set From 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.
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set From 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.
Combined immunodeficiency due to DOCK8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Limb-girdle muscular dystrophy due to POMK deficiency Gene Set From 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.
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set From 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.
Vasculitis due to ADA2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microcephalic primordial dwarfism due to RTTN deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autism spectrum disorder due to AUTS2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pyogenic bacterial infections due to MyD88 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CTPS1 deficiency Gene Set From 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.
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set From 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.
Combined immunodeficiency due to ORAI1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to INSR deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to CD25 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to SIM1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to hexokinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
X-linked lymphoproliferative disease due to XIAP deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set From 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.
Immunodeficiency due to MASP-2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to prohormone convertase I deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to congenital leptin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Short stature due to primary acid-labile subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
HNSHA due to aldolase A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to moesin deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to adenylate kinase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set From 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.
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to CORO1A deficiency Gene Set From 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.
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Combined immunodeficiency due to OX40 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to IKK2 deficiency Gene Set From 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.
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperinsulinism due to HNF4A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hemolytic anemia due to glutathione reductase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set From 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.
Combined immunodeficiency due to MALT1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LCK deficiency Gene Set From 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.
Immunodeficiency due to a late component of complement deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Recurrent Neisseria infections due to factor D deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Obesity due to CEP19 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Primary immunodeficiency syndrome due to p14 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe combined immunodeficiency due to LAT deficiency Gene Set From 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.
Combined immunodeficiency due to GINS1 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set From 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.
Neurometabolic disorder due to serine deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary thrombophilia due to congenital protein S deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Focal epilepsy with speech disorder with or without mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Speech-language disorder 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Speech-language disorder 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Speech-Sound Disorder Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Speech-Sound Disorder from the curated CTD Gene-Disease Associations dataset.
Speech Disorders Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Speech Disorders from the curated CTD Gene-Disease Associations dataset.
SPEECH-LANGUAGE DISORDER 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPEECH-LANGUAGE DISORDER 1 from the curated CTD Gene-Disease Associations dataset.
speech disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease speech disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
speech disorders; substance-related disorders Gene Set From GAD Gene-Disease Associations genes associated with the disease speech disorders; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
speech perception in dyslexia Gene Set From GAD Gene-Disease Associations genes associated with the disease speech perception in dyslexia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
speech Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term speech in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
speech disorder Gene Set From GWASdb SNP-Disease Associations genes associated with the disease speech disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
neurological speech impairment Gene Set From GWASdb SNP-Phenotype Associations genes associated with the neurological speech impairment phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
speech articulation difficulties Gene Set From HPO Gene-Disease Associations genes associated with the speech articulation difficulties phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
poor speech Gene Set From HPO Gene-Disease Associations genes associated with the poor speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormal speech discrimination Gene Set From HPO Gene-Disease Associations genes associated with the abnormal speech discrimination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
speech apraxia Gene Set From HPO Gene-Disease Associations genes associated with the speech apraxia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
nasal, dysarthic speech Gene Set From HPO Gene-Disease Associations genes associated with the nasal, dysarthic speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
slurred speech Gene Set From HPO Gene-Disease Associations genes associated with the slurred speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
nasal speech Gene Set From HPO Gene-Disease Associations genes associated with the nasal speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
loss of speech Gene Set From HPO Gene-Disease Associations genes associated with the loss of speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
scanning speech Gene Set From HPO Gene-Disease Associations genes associated with the scanning speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
incomprehensible speech Gene Set From HPO Gene-Disease Associations genes associated with the incomprehensible speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
neurological speech impairment Gene Set From HPO Gene-Disease Associations genes associated with the neurological speech impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
absent speech Gene Set From HPO Gene-Disease Associations genes associated with the absent speech phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Speech Disorders Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Speech Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Speech Perception Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Speech Perception phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
rett syndrome, preserved speech variant Gene Set From OMIM Gene-Disease Associations genes associated with the rett syndrome, preserved speech variant phenotype from the curated OMIM Gene-Disease Associations dataset.
speech-language disorder-1 Gene Set From OMIM Gene-Disease Associations genes associated with the speech-language disorder-1 phenotype from the curated OMIM Gene-Disease Associations dataset.
{speech-sound disorder} Gene Set From OMIM Gene-Disease Associations genes associated with the {speech-sound disorder} phenotype from the curated OMIM Gene-Disease Associations dataset.
Anarthria Speech Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Anarthria Speech Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Speech Sound Disorders Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Speech Sound Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Grammar-Specific Speech Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Grammar-Specific Speech Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Motor Speech Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Motor Speech Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Loss Of Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Loss Of Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slurred Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slurred Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Poor Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Poor Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Absent Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Abnormal Speech Discrimination Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Speech Discrimination in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Speech Articulation Difficulties Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Speech Articulation Difficulties in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Abnormal Speech Prosody Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Speech Prosody in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Scanning Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Scanning Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Incomprehensible Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Incomprehensible Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Monotonic Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Monotonic Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Hyponasal Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hyponasal Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Slowed Slurred Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Slowed Slurred Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Absent Or Delayed Speech Development Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent Or Delayed Speech Development in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Nasal, Dysarthic Speech Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nasal, Dysarthic Speech in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Speech Dysfunction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Speech Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Fatigable Weakness Of Speech Muscles Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fatigable Weakness Of Speech Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Speech Impairment Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Speech Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
speech-language disorder-1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease speech-language disorder-1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Speech disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Speech disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Speech disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Speech disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
speech-language disorder-1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease speech-language disorder-1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Childhood apraxia of speech Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood apraxia of speech phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Absent speech Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Absent speech phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Absent or delayed speech development Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Absent or delayed speech development phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Speech apraxia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Speech apraxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Poor speech Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Poor speech phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Speech perception in dyslexia Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Speech perception in dyslexia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental and epileptic encephalopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 14 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 14 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 13 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 13 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 26 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 26 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 4 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 4 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 2 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental and epileptic encephalopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 28 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 28 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 86 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 86 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 29 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 84 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 84 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 55 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 55 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 80 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 80 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 36 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 36 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 15 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 11 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 25 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 25 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 73 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 73 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 26 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 26 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 16 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 16 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 93 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 93 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 53 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 53 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 7 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 48 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 48 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 52 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 52 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 13 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 14 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 76 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 76 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 27 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 27 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 47 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 47 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Intellectual developmental disorder with short stature and behavioral abnormalities Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with short stature and behavioral abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 98 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 98 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 54 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 54 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 30 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 30 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 50 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 50 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 39 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 39 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 42 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 42 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 38 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 38 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 31A Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 31A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 23 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 60 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 60 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 62 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 62 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 37 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 37 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 32 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 32 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 103 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 103 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 91 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 91 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 33 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 33 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 66 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 66 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 56 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 56 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 18 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 18 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 87 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 87 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 94 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 94 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 17 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 17 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 6B Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 6B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 69 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 69 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 65 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 65 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 24 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 24 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 43 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 35 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 99 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 99 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 97 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 97 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 75 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 75 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 63 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 63 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 102 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 102 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 82 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 82 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 41 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 34 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 34 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 85 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 85 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 49 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 49 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 46 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 46 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 19 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 12 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 67 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 67 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 104 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 104 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 106 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 106 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 44 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 74 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 74 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 58 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 58 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 90 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 90 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 57 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 57 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 45 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 45 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 21 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 72 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 72 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 78 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 78 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 71 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 71 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 100 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 100 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 96 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 96 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 89 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 89 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 70 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 70 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Intellectual developmental disorder with ocular anomalies and distinctive facial features Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with ocular anomalies and distinctive facial features in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy 64 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental and epileptic encephalopathy 64 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Genetic developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Genetic developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
KCNQ3-related Autism and developmental disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNQ3-related Autism and developmental disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Unclassified developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Unclassified developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
BSCL2-related Developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the BSCL2-related Developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intellectual developmental disorder and retinitis pigmentosa Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual developmental disorder and retinitis pigmentosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
HCN2 related developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the HCN2 related developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
SNAP25-related early-onset developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the SNAP25-related early-onset developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
KCNA3-associated developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNA3-associated developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
GABRA4-related developmental and epileptic encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the GABRA4-related developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
self-mutilation of tongue and lips due to involuntary movements Gene Set From HPO Gene-Disease Associations genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Peripheral Neuropathy Due To And Following Chemotherapy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Due To Cold And Heat Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set From Reactome Pathways 2024 proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Myopathy due to calsequestrin and SERCA1 protein overload Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
delay discounting Gene Set From GAD Gene-Disease Associations genes associated with the disease delay discounting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
delay Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term delay in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
motor delay Gene Set From HPO Gene-Disease Associations genes associated with the motor delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
severe carpal ossification delay Gene Set From 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.
neurodevelopmental delay Gene Set From HPO Gene-Disease Associations genes associated with the neurodevelopmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
marked delay in bone age Gene Set From HPO Gene-Disease Associations genes associated with the marked delay in bone age phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
growth delay Gene Set From HPO Gene-Disease Associations genes associated with the growth delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
expressive language delay Gene Set From HPO Gene-Disease Associations genes associated with the expressive language delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Clumsiness - Motor Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Clumsiness - Motor Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mild Expressive Language Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mild Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Gross Motor Development Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Gross Motor Development Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Expressive Language Delay Gene Set From 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.
Receptive Language Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Constitutional Delay Of Puberty Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Constitutional Delay Of Puberty in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Moderate Expressive Language Delay Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Moderate Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Receptive Language Delay Gene Set From 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.
Growth Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Growth Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Motor Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Motor Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Neurodevelopmental Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neurodevelopmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Expressive Language Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Expressive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Language Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Marked Delay In Bone Age Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Marked Delay In Bone Age in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Moderate Receptive Language Delay Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Moderate Receptive Language Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Severe Carpal Ossification Delay Gene Set From 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.
Neurodevelopmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Growth delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Severe neurodevelopmental delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neurodevelopmental delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Expressive language delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Expressive language delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Motor delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Motor delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neuromotor delay Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neuromotor delay phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set From Reactome Pathways 2014 proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Neuraminidase deficiency with beta-galactosidase deficiency Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set From GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
choline deficiency; dna damage; folic acid deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
protein c deficiency; protein s deficiency; venous thrombosis Gene Set From GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set From GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set From GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set From Reactome Pathways 2014 proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set From Reactome Pathways 2024 proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.
DEVELOPMENTAL DYSPLASIA OF THE HIP 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 from the curated CTD Gene-Disease Associations dataset.
Developmental Disabilities Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Developmental Disabilities from the curated CTD Gene-Disease Associations dataset.
Bone Diseases, Developmental Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Bone Diseases, Developmental from the curated CTD Gene-Disease Associations dataset.
pervasive developmental disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease pervasive developmental disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
specific developmental disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease specific developmental disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
developmental disorder of mental health Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease developmental disorder of mental health from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
specific developmental disorder Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease specific developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
developmental disorder of mental health Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease developmental disorder of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
pervasive developmental disorder Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease pervasive developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
pervasive developmental disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pervasive developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
developmental disorder of mental health Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease developmental disorder of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
developmental coordination disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease developmental coordination disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
specific developmental disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease specific developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
anodontia; developmental absence of tooth Gene Set From GAD Gene-Disease Associations genes associated with the disease anodontia; developmental absence of tooth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
bone diseases, developmental; osteoarthritis, hip Gene Set From GAD Gene-Disease Associations genes associated with the disease bone diseases, developmental; osteoarthritis, hip in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
developmental Gene Set From GAD High Level Gene-Disease Associations genes associated with the disease developmental in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
developmental Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term developmental in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
developmental maturation Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental maturation biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of developmental growth Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of developmental growth biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental programmed cell death Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental programmed cell death biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental growth involved in morphogenesis Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental growth involved in morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
single-organism developmental process Gene Set From GO Biological Process Annotations 2015 genes participating in the single-organism developmental process biological process from the curated GO Biological Process Annotations 2015 dataset.
cellular developmental process Gene Set From GO Biological Process Annotations 2015 genes participating in the cellular developmental process biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of developmental growth Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of developmental growth biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of developmental process Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of developmental process biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental growth Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental growth biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental cell growth Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental cell growth biological process from the curated GO Biological Process Annotations 2015 dataset.
negative regulation of developmental process Gene Set From GO Biological Process Annotations 2015 genes participating in the negative regulation of developmental process biological process from the curated GO Biological Process Annotations 2015 dataset.
pigment metabolic process involved in developmental pigmentation Gene Set From GO Biological Process Annotations 2015 genes participating in the pigment metabolic process involved in developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental induction Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental induction biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental process involved in reproduction Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental process involved in reproduction biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental pigmentation Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of developmental process Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of developmental process biological process from the curated GO Biological Process Annotations 2015 dataset.
regulation of developmental growth Gene Set From GO Biological Process Annotations 2015 genes participating in the regulation of developmental growth biological process from the curated GO Biological Process Annotations 2015 dataset.
positive regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2015 genes participating in the positive regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.
developmental process Gene Set From GO Biological Process Annotations 2015 genes participating in the developmental process biological process from the curated GO Biological Process Annotations 2015 dataset.
spongiotrophoblast layer developmental growth Gene Set From GO Biological Process Annotations 2015 genes participating in the spongiotrophoblast layer developmental growth biological process from the curated GO Biological Process Annotations 2015 dataset.
specific developmental disorder Gene Set From GWASdb SNP-Disease Associations genes associated with the disease specific developmental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
developmental disorder of mental health Gene Set From GWASdb SNP-Disease Associations genes associated with the disease developmental disorder of mental health in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
pervasive developmental disorder Gene Set From GWASdb SNP-Disease Associations genes associated with the disease pervasive developmental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
developmental stagnation Gene Set From HPO Gene-Disease Associations genes associated with the developmental stagnation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
developmental stagnation at onset of seizures Gene Set From HPO Gene-Disease Associations genes associated with the developmental stagnation at onset of seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
developmental regression Gene Set From HPO Gene-Disease Associations genes associated with the developmental regression phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Developmental Disabilities Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Developmental Disabilities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Bone Diseases, Developmental Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Bone Diseases, Developmental phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Developmental pluripotency-associated protein 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Developmental pluripotency-associated protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Developmental pluripotency-associated protein 2/4, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Developmental pluripotency-associated protein 2/4, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sox developmental protein N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sox developmental protein N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Developmental pluripotency-associated protein 2/4, central domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Developmental pluripotency-associated protein 2/4, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Interferon-related developmental regulator, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Interferon-related developmental regulator, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Interferon-related developmental regulator, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Interferon-related developmental regulator, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
abnormal developmental patterning Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal developmental patterning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal developmental vascular remodeling Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal developmental vascular remodeling phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
developmental dysplasia of the hip 2 Gene Set From OMIM Gene-Disease Associations genes associated with the developmental dysplasia of the hip 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
developmental Gene Set From Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term developmental in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.
Developmental Biology Gene Set From Reactome Pathways 2014 proteins participating in the Developmental Biology pathway from the Reactome Pathways dataset.
Developmental Regression Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Coordination Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Coordination Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Reading Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Reading Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Arithmetic Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Arithmetic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Absence Of Tooth Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Absence Of Tooth in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Intellectual Developmental Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Intellectual Developmental Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Phonological Developmental Disorder Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Phonological Developmental Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lateral Developmental Cyst Of Jaw Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lateral Developmental Cyst Of Jaw in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Porencephaly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Porencephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Failure Of Fusion Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Failure Of Fusion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Coxa Vara Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Coxa Vara in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Communication Disorders, Developmental Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Communication Disorders, Developmental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Dysplasia Of The Hip 1 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Dysplasia Of The Hip 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cardiac Valvular Defect, Developmental Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Valvular Defect, Developmental in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Syntactic Impairment Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Developmental Syntactic Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Developmental Stagnation Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Stagnation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Developmental Academic Disorder Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Academic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Developmental Stagnation At Onset Of Seizures Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Stagnation At Onset Of Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Developmental Symptoms Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Developmental Symptoms in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Delayed Developmental Milestones Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Delayed Developmental Milestones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
positive regulation of developmental growth Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of developmental growth biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of developmental growth Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of developmental growth biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of developmental growth Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of developmental growth biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of developmental process Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of developmental process biological process from the curated GO Biological Process Annotations 2023 dataset.
negative regulation of developmental process Gene Set From GO Biological Process Annotations 2023 genes participating in the negative regulation of developmental process biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.
abnormal developmental patterning Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal developmental patterning phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
developmental cataract Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the developmental cataract phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal developmental vascular remodeling Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal developmental vascular remodeling phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Developmental Biology Gene Set From Reactome Pathways 2024 proteins participating in the Developmental Biology pathway from the Reactome Pathways 2024 dataset.
Developmental Cell Lineages Gene Set From Reactome Pathways 2024 proteins participating in the Developmental Cell Lineages pathway from the Reactome Pathways 2024 dataset.
Disorders of Developmental Biology Gene Set From Reactome Pathways 2024 proteins participating in the Disorders of Developmental Biology pathway from the Reactome Pathways 2024 dataset.
Pervasive developmental disorders Gene Set From Reactome Pathways 2024 proteins participating in the Pervasive developmental disorders pathway from the Reactome Pathways 2024 dataset.
positive regulation of developmental growth Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of developmental growth biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of developmental growth Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of developmental growth biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of developmental growth Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of developmental growth biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of developmental process Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of developmental process biological process from the curated GO Biological Process Annotations 2025 dataset.
negative regulation of developmental process Gene Set From GO Biological Process Annotations 2025 genes participating in the negative regulation of developmental process biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of developmental pigmentation Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.
Developmental disorder of mental health Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental disorder of mental health from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Pervasive developmental disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pervasive developmental disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Specific developmental disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Specific developmental disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 5 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 29 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 29 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 35 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 35 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive intellectual developmental disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
X-linked intellectual developmental disorder 109 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease X-linked intellectual developmental disorder 109 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 43 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal dominant intellectual developmental disorder 43 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Developmental disorder of mental health Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Developmental disorder of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
Specific developmental disorder Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Specific developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
Pervasive developmental disorder Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Pervasive developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
Specific developmental disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Specific developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental disorder of mental health Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental disorder of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Pervasive developmental disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pervasive developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental dysplasia of the hip Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental dysplasia of the hip in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 35 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 35 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 13 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 7 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental dysplasia of the hip 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental dysplasia of the hip 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental dysplasia of the hip 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental dysplasia of the hip 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 19 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 19 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental coordination disorder Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental coordination disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 10 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 56 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 56 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 41 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 22 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 22 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 21 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 21 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked intellectual developmental disorder 108 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual developmental disorder 108 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 42 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 42 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Intellectual developmental disorder with cardiac arrhythmia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with cardiac arrhythmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 38 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 38 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
X-linked intellectual developmental disorder 109 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual developmental disorder 109 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 44 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 44 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 43 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 50 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 50 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 23 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 23 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 11 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder 43 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 43 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 48 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 48 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental cardiac valvular defect Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental cardiac valvular defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 29 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 29 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic X-linked intellectual developmental disorder bain type Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic X-linked intellectual developmental disorder bain type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder 41 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 41 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 36 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 36 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 52 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 52 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder 59 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 59 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 51 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 51 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 40 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 40 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder 13 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 55 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 55 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
non-syndromic X-linked intellectual developmental disorder 111 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic X-linked intellectual developmental disorder 111 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 46 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 46 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 31 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 31 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder 69 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive intellectual developmental disorder 69 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 54 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 54 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant intellectual developmental disorder 4 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant intellectual developmental disorder 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Developmental regression Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental regression phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Developmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Developmental cataract Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental cataract phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Developmental malformations-deafness-dystonia syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental malformations-deafness-dystonia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
INTELLECTUAL DEVELOPMENTAL DISOR Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the INTELLECTUAL DEVELOPMENTAL DISOR phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intellectual developmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual developmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
KCNQ3-related developmental disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the KCNQ3-related developmental disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Noonan Syndrome-like developmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan Syndrome-like developmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Developmental encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
PUM1-associated developmental disability-ataxia-seizure syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the PUM1-associated developmental disability-ataxia-seizure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pervasive developmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pervasive developmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Developmental dysplasia of the hip Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental dysplasia of the hip phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Intellectual developmental disorder- Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual developmental disorder- phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Pubertal developmental failure in females Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Pubertal developmental failure in females phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
USP9X-related intellectual developmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the USP9X-related intellectual developmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
FRYL-related developmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the FRYL-related developmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Developmental language disorder Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Developmental language disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Developmental language disorder (linguistic errors) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Developmental language disorder (linguistic errors) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Developmental language disorder (syntactic complexity) Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Developmental language disorder (syntactic complexity) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Developmental dysplasia of the hip Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Developmental dysplasia of the hip phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Trifunctional protein deficiency with myopathy and neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ulna and fibula absence of with severe limb deficiency Gene Set From 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.
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Factor v and factor viii, combined deficiency of, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Monocyte and dendritic cell deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined deficiency of factor V and factor VIII, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Growth deficiency and mental retardation with facial dysmorphism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Combined deficiency of sialidase AND beta galactosidase Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.
NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.
hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease hypertrophic cardiomyopathy and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
leigh syndrome and cytochrome c oxidase deficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
acid lipase deficiency and cholesterol ester storage disease Gene Set From GAD Gene-Disease Associations genes associated with the disease acid lipase deficiency and cholesterol ester storage disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
iga deficiency and common variable immunodeficiency Gene Set From GAD Gene-Disease Associations genes associated with the disease iga deficiency and common variable immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
l-ferritin deficiency, dominant and recessive Gene Set From OMIM Gene-Disease Associations genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ulna and fibula, absence of, with severe limb deficiency Gene Set From 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.
agammaglobulinemia and isolated hormone deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the agammaglobulinemia and isolated hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
natural killer cell and glucocorticoid deficiency with dna repair defect Gene Set From OMIM Gene-Disease Associations genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
factor v and factor viii, combined deficiency of Gene Set From OMIM Gene-Disease Associations genes associated with the factor v and factor viii, combined deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.
?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene Set From OMIM Gene-Disease Associations genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene Set From OMIM Gene-Disease Associations genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.
autoinflammation, antibody deficiency, and immune dysregulation syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the autoinflammation, antibody deficiency, and immune dysregulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
apoa-i and apoc-iii deficiency, combined Gene Set From OMIM Gene-Disease Associations genes associated with the apoa-i and apoc-iii deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.
combined factor v and viii deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the combined factor v and viii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set From OMIM Gene-Disease Associations genes associated with the hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.
phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) Gene Set From Reactome Pathways 2014 proteins participating in the Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD) pathway from the Reactome Pathways dataset.
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
C7 And C6 Deficiency, Combined Subtotal Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease C7 And C6 Deficiency, Combined Subtotal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Factor V And Factor Viii, Combined Deficiency Of Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Factor V And Factor Viii, Combined Deficiency Of in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Preaxial Deficiency, Postaxial Polydactyly And Hypospadias in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Plcg2-Associated Antibody Deficiency And Immune Dysregulation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Plcg2-Associated Antibody Deficiency And Immune Dysregulation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Growth Deficiency And Mental Retardation With Facial Dysmorphism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Growth Deficiency And Mental Retardation With Facial Dysmorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bile Acid Coa Ligase Deficiency And Defective Amidation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bile Acid Coa Ligase Deficiency And Defective Amidation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
TCA cycle and deficiency of pyruvate dehydrogenase complex PDHc Gene Set From WikiPathways Pathways 2024 proteins participating in the TCA cycle and deficiency of pyruvate dehydrogenase complex PDHc pathway from the WikiPathways Pathways 2024 dataset.
Ectodermal dysplasia and immune deficiency Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ectodermal dysplasia and immune deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
monocyte, dendritic cell, and NK cell deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease monocyte, dendritic cell, and NK cell deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ectodermal dysplasia and immune deficiency Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ectodermal dysplasia and immune deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
microcephaly, growth deficiency, seizures, and brain malformations Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, growth deficiency, seizures, and brain malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Combined deficiency of sialidase AND beta galactosidase Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary hypercarotenemia and vitamin A deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary hypercarotenemia and vitamin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Triokinase and FMN cyclase deficiency syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Triokinase and FMN cyclase deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Megaloblastic anemia due to inborn errors of metabolism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to activated protein C resistance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to thrombomodulin defect Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immunodeficiency due to defect in cd3-zeta Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set From 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 Set From 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.
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.
Thrombophilia due to Activated Protein C Resistance Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in CD3-Zeta Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.
Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.
Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.
thrombocytopenia due to platelet alloimmunization Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
pneumoconiosis due to talc Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
hereditary spastic paraparesis due to a frame shift mutat Gene Set From GAD Gene-Disease Associations genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
depressed suicide; suicide due to depression Gene Set From GAD Gene-Disease Associations genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
due Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term due in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
anemia due to reduced life span of red cells Gene Set From GWASdb SNP-Phenotype Associations genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set From HPO Gene-Disease Associations genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
anemia due to reduced life span of red cells Gene Set From HPO Gene-Disease Associations genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
restricted neck movement due to contractures Gene Set From HPO Gene-Disease Associations genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
chronic rhinitis due to narrow nasal airway Gene Set From HPO Gene-Disease Associations genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
bowing of limbs due to multiple fractures Gene Set From HPO Gene-Disease Associations genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
respiratory insufficiency due to muscle weakness Gene Set From HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
osteomyelitis leading to amputation due to slow healing fractures Gene Set From HPO Gene-Disease Associations genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
weakness due to upper motor neuron dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
respiratory insufficiency due to defective ciliary clearance Gene Set From HPO Gene-Disease Associations genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
recurrent infections due to aspiration Gene Set From HPO Gene-Disease Associations genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
generalized hypotonia due to defect at the neuromuscular junction Gene Set From HPO Gene-Disease Associations genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
chronic hepatitis due to cryptospridium infection Gene Set From HPO Gene-Disease Associations genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
subperiosteal erosions due to secondary hyperparathyroidism Gene Set From HPO Gene-Disease Associations genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
painless fractures due to injury Gene Set From HPO Gene-Disease Associations genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
hepatic abscesses due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
cellulitis due to immunodeficiency Gene Set From HPO Gene-Disease Associations genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
decreased sweating due to autonomic dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set From HPO Gene-Disease Associations genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
orthostatic hypotension due to autonomic dysfunction Gene Set From HPO Gene-Disease Associations genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set From OMIM Gene-Disease Associations genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to thrombomodulin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
bleeding disorder due to p2rx1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set From OMIM Gene-Disease Associations genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.
hypercholesterolemia, due to ligand-defective apo b Gene Set From OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.
disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set From OMIM Gene-Disease Associations genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.
hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set From OMIM Gene-Disease Associations genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set From OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.
omphalocele due to duplication of 1p31.3 Gene Set From OMIM Gene-Disease Associations genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.
gigantism due to ghrf hypersecretion Gene Set From OMIM Gene-Disease Associations genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.
pseudohyperkalemia, familial, 2, due to red cell leak Gene Set From OMIM Gene-Disease Associations genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia, familial, due to decreased release of plat Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.
macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set From OMIM Gene-Disease Associations genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
{drug-induced liver injury due to flucloxacillin} Gene Set From OMIM Gene-Disease Associations genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to activated protein c resistance Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.
?male pseudohermaphroditism due to defective lh Gene Set From OMIM Gene-Disease Associations genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.
hydrocephalus due to aqueductal stenosis Gene Set From OMIM Gene-Disease Associations genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to elevated hrg Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.
thalassemia due to hb lepore Gene Set From OMIM Gene-Disease Associations genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.
rickets due to defect in vitamin d 25-hydroxylation Gene Set From OMIM Gene-Disease Associations genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria due to transcobalamin receptor defect Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia, x-linked, due to factor ix defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.
{thrombophilia, susceptibility to, due to factor v leiden} Gene Set From OMIM Gene-Disease Associations genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency due to defect in mapbp-interacting protein Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.
goiter, familial, due to ttf-1 defect Gene Set From OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to thrombin defect Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperfibrinolysis, familial, due to increased release of plat Gene Set From OMIM Gene-Disease Associations genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.
hemosiderosis, systemic, due to aceruloplasminemia Gene Set From OMIM Gene-Disease Associations genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set From OMIM Gene-Disease Associations genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.
Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set From WikiPathways Pathways 2014 proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.
Malignant Hyperpyrexia Due To Anesthesia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Functional Diarrhoea (Due To Spastic Colon) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Viral Gastroenteritis Due To Rotavirus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dementia Due To Alzheimer'S Disease (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Whooping Cough Due To Unspecified Organism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteopenia Due To Disuse Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disease Due To Parvoviridae Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Parvoviridae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Addison'S Disease Due To Autoimmunity Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Eye Disorder Due To Diabetes Mellitus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ketoacidosis Due To Acute Alcohol Intoxication Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
End Stage Renal Disease Due To Hypertension Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hydrops Fetalis Due To Alpha Thalassemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disease Due To Acanthocephala Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Acanthocephala in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disease Due To Neisseria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disease Due To Neisseria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Osteomyelitis Due To Staphylococcus Aureus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Hepatitis Due To Cryptosporidium Infection Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Brucella Suis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Recurrent Infections Due To Aspiration Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Mycobacterium Kansasii Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hydronephrosis Due To Pujo Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Disseminated Due To Other Mycobacteria Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Diabetes (Mellitus) Due To Autoimmune Process Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Scoliosis Due To Bony Malformation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute Renal Failure Due To Ischemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dementia Due To Parkinson'S Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Urticaria Due To Cold Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Acute Bronchitis Due To Respiratory Syncytial Virus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Irritant Contact Dermatitis Due To Incontinence Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dermatophilosis Due To Dermatophilus Congolensis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Perinatal Jaundice Due To Inspissated Bile Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Infection Due To Clostridium Chauvoei Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Chronic Rhinitis Due To Narrow Nasal Airway Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Erythropoietin Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Excess Erythopoetin Production Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To Fall In Plasma Volume Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polycythemia Due To High Altitude Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Harmonizome 3.0

Developmental And Speech Delay Due To Sox5 Deficiency Gene Set

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome Gene Set

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set

Growth delay due to insulin-like growth factor deficiency Gene Set

Speech Delay Gene Set

Severe Speech Delay Gene Set

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

Intellectual disability-severe speech delay-mild dysmorphism syndrome Gene Set

Growth retardation, developmental delay, coarse facies, and early death Gene Set

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

Obesity, hyperphagia, and developmental delay Gene Set

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene Set

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set

Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene Set

obesity, hyperphagia, and developmental delay Gene Set

myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

microcephaly, seizures, and developmental delay Gene Set

?obesity, hyperphagia, and developmental delay Gene Set

growth retardation, developmental delay, coarse facies, and early death Gene Set

sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

Developmental Delay, Epilepsy, And Neonatal Diabetes Gene Set

Brachycephaly, Trichomegaly, And Developmental Delay Gene Set

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans Gene Set

Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene Set

Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene Set

Plantar Lipomatosis, Unusual Facies, And Developmental Delay Gene Set

Cardiac, Facial, And Digital Anomalies With Developmental Delay Gene Set

Severe Achondrodysplasia With Developmental Delay And Acanthosis Nigricans Gene Set

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

microcephaly, seizures, and developmental delay Gene Set

microcephaly, seizures, and developmental delay Gene Set

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene Set

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

Developmental delay and seizures with or without movement abnormalities Gene Set

brachycephaly, trichomegaly, and developmental delay Gene Set

Developmental delay, hypotonia, and impaired language Gene Set

Developmental delay and seizures Gene Set

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Gene Set

moderate global developmental delay Gene Set

mild global developmental delay Gene Set

global developmental delay Gene Set

severe global developmental delay Gene Set

Global Developmental Delay Gene Set

Profound Global Developmental Delay Gene Set

Developmental Delay Gene Set

Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome Gene Set

Developmental Delay (Disorder) Gene Set

Severe Global Developmental Delay Gene Set

Mild Global Developmental Delay Gene Set

Moderate Global Developmental Delay Gene Set

Pili Torti Developmental Delay Neurological Abnormalities Gene Set

Developmental Delay, Mild Gene Set

behavioral developmental delay Gene Set

motor developmental delay Gene Set

Congenital limbs-face contractures-hypotonia-developmental delay syndrome Gene Set

Global developmental delay Gene Set

Cardiac anomalies - developmental delay - facial dysmorphism syndrome Gene Set

Severe global developmental delay Gene Set

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Gene Set

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Gene Set

Developmental delay Gene Set

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Gene Set

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Gene Set

Macrocephaly-developmental delay syndrome Gene Set

Pancytopenia-developmental delay syndrome Gene Set

Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Gene Set

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Gene Set

Moderate global developmental delay Gene Set

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Gene Set

GNAO1-related developmental delay-seizures-movement disorder spectrum Gene Set

Spastic paraplegia-severe developmental delay-epilepsy syndrome Gene Set

Short stature-brachydactyly-obesity-global developmental delay syndrome Gene Set

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Gene Set

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene Set

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Gene Set

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Gene Set

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Gene Set

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Gene Set