| Name |
|---|
MCOPCT1 Genecataract, congenital, with microphthalmia |
CFTDX GeneMyopathy, congenital, with fiber-type disproportion, X-linked |
NPHS1 Genenephrosis 1, congenital, Finnish type (nephrin) This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] |
CTRCT37 GeneCataract, congenital cerulean type, 5 |
CTRCT34 GeneCataract, autosomal recessive congenital 3 |
CTRCT35 Genecataract, congenital nuclear, autosomal recessive |
BSCL2 GeneBerardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024] |
HTC1 Genehypertrichosis 1 (universalis, congenital) |
HTC2 Genehypertrichosis 2 (generalized, congenital) |
RNANC GeneRetinal nonattachment, nonsyndromic congenital |
NHS GeneNance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014] |
MDC1B GeneMuscular dystrophy, congenital, 1B |
CDAN3 Genecongenital dyserythropoietic anemia, type III |
LCA5L GeneLeber congenital amaurosis 5-like Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025] |
NDNC9 GeneNail disorder, nonsyndromic congenital, 9 |
NYS2 Genenystagmus 2, congenital autosomal dominant |
NYS3 Genenystagmus 3, congenital autosomal dominant |
NYS7 GeneNystagmus 7, congenital |
NYS4 Genenystagmus 4, congenital autosomal dominant |
NDIC GeneNail dysplasia, isolated congenital |
CTRCT27 GeneCataract, congenital, nuclear progressive |
PTOS2 GenePtosis, hereditary congenital 2 |
PTOS1 Geneptosis, congenital 1 (autosomal dominant) |
GLC3C Geneglaucoma 3, primary congenital, C |
SMAL Genespinal muscular atrophy, congenital nonprogressive, of lower limbs |
ANIC GeneAnosmia, isolated congenital |
CHDT3 GeneCongenital heart defects, multiple types, 3 |
MDCMP Genemuscular dystrophy, congenital, merosin-positive |
CHNG3 GeneHypothyroidism, congenital, nongoitrous, 3 |
LCA5 GeneLeber congenital amaurosis 5 This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] |
CCA1 Genecataract, congenital, cerulean type, 1 |
CCT Genecataract, congenital, total |
CCV Genecataract, congenital, Volkmann type |
MCOR Genemicrocoria, congenital |
DIH2 GeneHernia, congenital diaphragmatic 2 |
ARCI9 GeneIchthyosis, congenital, autosomal recessive 9 |
ARCI7 GeneIchthyosis, congenital, autosomal recessive 7 |
PAFC GenePreauricular fistulae, congenital |
Congenital Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
congenital heart defects; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; folic acid deficiency; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; nervous system diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; congenital heart defects; growth disorders; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Heart Defects, Congenital, And Other Congenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early myoclonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early myoclonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
epileptic encephalopathy, early infanitle, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the epileptic encephalopathy, early infanitle, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, childhood-onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial encephalopathy with neuroserpin inclusion bodies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Early infantile epileptic encephalopathy 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Early infantile epileptic encephalopathy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 25 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 26 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic encephalopathy, early infantile, 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epileptic encephalopathy, early infantile, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ethylmalonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ethylmalonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 4 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 1 from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 2 from the curated CTD Gene-Disease Associations dataset. |
Hypertensive Encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertensive Encephalopathy from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 from the curated CTD Gene-Disease Associations dataset. |
Hepatic Encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Encephalopathy from the curated CTD Gene-Disease Associations dataset. |
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 from the curated CTD Gene-Disease Associations dataset. |
Epileptic encephalopathy, Lennox-Gastaut type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic encephalopathy, Lennox-Gastaut type from the curated CTD Gene-Disease Associations dataset. |
Wernicke Encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wernicke Encephalopathy from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 from the curated CTD Gene-Disease Associations dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial encephalopathy with neuroserpin inclusion bodies from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial neurogastrointestinal encephalopathy syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial neurogastrointestinal encephalopathy syndrome from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 from the curated CTD Gene-Disease Associations dataset. |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset. |
Epileptic Encephalopathy, Early Infantile, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 3 from the curated CTD Gene-Disease Associations dataset. |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 from the curated CTD Gene-Disease Associations dataset. |
Spongiform Encephalopathy with Neuropsychiatric Features Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spongiform Encephalopathy with Neuropsychiatric Features from the curated CTD Gene-Disease Associations dataset. |
Ethylmalonic encephalopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ethylmalonic encephalopathy from the curated CTD Gene-Disease Associations dataset. |
glycine encephalopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease glycine encephalopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
glycine encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease glycine encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hepatic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hepatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
early myoclonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease early myoclonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
wernicke encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease wernicke encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
toxic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease toxic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypertensive encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hypertensive encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
chronic toxic encephalopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic toxic encephalopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatic encephalopathy; liver cirrhosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatic encephalopathy; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
encephalopathy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term encephalopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
hypoglycemic encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the hypoglycemic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
recurrent encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the recurrent encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
epileptic encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the epileptic encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acute encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the acute encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
infantile encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the infantile encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mitochondrial encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the mitochondrial encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
acute necrotizing encephalopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the acute necrotizing encephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hepatic Encephalopathy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hepatic Encephalopathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Encephalopathy, Bovine Spongiform Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Encephalopathy, Bovine Spongiform phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
spongiform encephalopathy Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the spongiform encephalopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
{encephalopathy, acute, infection-induced, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {encephalopathy, acute, infection-induced, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{encephalopathy, acute, infection-induced, 3, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {encephalopathy, acute, infection-induced, 3, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{encephalopathy, acute, infection-induced, 4, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {encephalopathy, acute, infection-induced, 4, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
ethylmalonic encephalopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ethylmalonic encephalopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, familial, with neuroserpin inclusion bodies Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, familial, with neuroserpin inclusion bodies phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, neonatal severe Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
glycine encephalopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the glycine encephalopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, early infantile, 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, early infantile, 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epileptic encephalopathy, early infantile, 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epileptic encephalopathy, early infantile, 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, progressive, with or without lipodystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, progressive, with or without lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Gene SetFrom OMIM Gene-Disease Associations genes associated with the thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) phenotype from the curated OMIM Gene-Disease Associations dataset. |
epileptic encephalopathy, childhood-onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the epileptic encephalopathy, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective ACY1 causes encephalopathy Gene Setproteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways dataset. |
Epileptic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epileptic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ethylmalonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ethylmalonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spongiform Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spongiform Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypoxic-Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypoxic-Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Hypoxic Ischemic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Hypoxic Ischemic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hiv Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hiv Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biotin-Responsive Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biotin-Responsive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hepatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Uremic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Uremic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arsenic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arsenic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Minimal Hepatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Minimal Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Posterior Reversible Encephalopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Posterior Reversible Encephalopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Myoclonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Myoclonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neonatal Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neonatal Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Traumatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Traumatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Necrotizing Encephalopathy, Infantile Subacute, Of Leigh in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wernicke Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wernicke Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy-Like Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myoclonic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myoclonic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Static Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Static Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Necrotizing Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Necrotizing Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Necrotizing Encephalopathy Of Childhood Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Necrotizing Encephalopathy Of Childhood in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transmissible Mink Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transmissible Mink Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Encephalopathy With Neuroserpin Inclusion Bodies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Encephalopathy With Neuroserpin Inclusion Bodies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mercury Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mercury Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonprogressive Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonprogressive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Hepatic Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Hepatic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Encephalopathy, Lactic Acidosis And Stroke-Like Episodes (Melas Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Febrile Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Febrile Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Profound Static Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Profound Static Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Neurogastrointestinal Encephalopathy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spongiform Encephalopathy With Neuropsychiatric Features Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spongiform Encephalopathy With Neuropsychiatric Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Acute Necrotizing Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Acute Necrotizing Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scn8A-Related Epilepsy With Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scn8A-Related Epilepsy With Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Early Infantile Epileptic Encephalopathy, Refractory Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Early Infantile Epileptic Encephalopathy, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infanctile Encephalopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infanctile Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Glycine Encephalopathy With Normal Serum Glycine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Glycine Encephalopathy With Normal Serum Glycine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infanctile Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infanctile Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Recurrent Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Recurrent Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene SetFrom 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. |
Epileptic Encephalopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Epileptic Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
spongiform encephalopathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the spongiform encephalopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
encephalopathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the encephalopathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Ethylmalonic encephalopathy Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Ethylmalonic encephalopathy pathway from the WikiPathways Pathways 2024 dataset. |
Defective ACY1 causes encephalopathy Gene Setproteins participating in the Defective ACY1 causes encephalopathy pathway from the Reactome Pathways 2024 dataset. |
Developmental and epileptic encephalopathy Gene SetFrom 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 SetFrom 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. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 13 Gene SetFrom 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. |
Glycine encephalopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Glycine encephalopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial encephalopathy with neuroserpin inclusion bodies from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Ethylmalonic encephalopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ethylmalonic encephalopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 26 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Toxic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Toxic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Chronic traumatic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic traumatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ethylmalonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ethylmalonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 28 Gene SetFrom 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 SetFrom 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. |
Hepatic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hepatic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early infantile epileptic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early infantile 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Early myoclonic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early myoclonic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Diabetic encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diabetic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 29 Gene SetFrom 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. |
Hypertensive encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypertensive encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 84 Gene SetFrom 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. |
Wernicke encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Wernicke encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 9 Gene SetFrom 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. |
Glycine encephalopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Glycine encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 55 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
TANGO2-related metabolic encephalopathy and arrythmias Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease TANGO2-related metabolic encephalopathy and arrythmias in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 14 Gene SetFrom 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. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial encephalopathy with neuroserpin inclusion bodies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 76 Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene SetFrom 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. |
Developmental and epileptic encephalopathy 47 Gene SetFrom 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. |
Developmental and epileptic encephalopathy 98 Gene SetFrom 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. |
Developmental and epileptic encephalopathy 54 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Developmental and epileptic encephalopathy 33 Gene SetFrom 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 SetFrom 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. |
Early onset progressive encephalopathy with brain atrophy and thin corpus callosum Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early onset progressive encephalopathy with brain atrophy and thin corpus callosum in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental and epileptic encephalopathy 56 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Developmental and epileptic encephalopathy 64 Gene SetFrom 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. |
Epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early myoclonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early myoclonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ethylmalonic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ethylmalonic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial acute necrotizing encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial acute necrotizing encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glycine encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glycine encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spongiform encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spongiform encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to GLUT1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal-onset encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal-onset encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Macrocephaly and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Macrocephaly and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genetic developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early Infantile Epileptic Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early Infantile Epileptic Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene SetFrom 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. |
Undetermined early-onset epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Undetermined early-onset epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early onset epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early onset epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom 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. |
Syndromic Infantile Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Infantile encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal Encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Unclassified developmental and epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Unclassified developmental and epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Encephalopathy due to defective mitochondrial and peroxisomal fission Gene SetFrom 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. |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene SetFrom 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. |
BSCL2-related Developmental and epileptic encephalopathy Gene SetFrom 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. |
Infantile epileptic dyskinetic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Infantile epileptic dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive childhood encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive childhood encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Developmental encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Developmental encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Atypical glycine encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Atypical glycine encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recurrent encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recurrent encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TRIM8-related epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the TRIM8-related epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
RYR3-related Epileptic encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the RYR3-related Epileptic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
HCN2 related developmental and epileptic encephalopathy Gene SetFrom 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 SetFrom 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. |
Encephalitis/encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Encephalitis/encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SYNGAP1-related encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SYNGAP1-related encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal encephalopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
KCNA3-associated developmental and epileptic encephalopathy Gene SetFrom 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 SetFrom 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. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal dominant form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hyperplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hyperplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital human immunodeficiency virus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diarrhea 5, with tufting enteropathy, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 5, with tufting enteropathy, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vertical talus, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vertical talus, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital generalized lipodystrophy type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease IV, congenital neuromuscular Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease IV, congenital neuromuscular phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial paresis, hereditary congenital, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital glucose-galactose malabsorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital glucose-galactose malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital sensory neuropathy with selective loss of small myelinated fibers Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with cores Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aphakia, congenital primary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aphakia, congenital primary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, congenital generalized, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital contractural arachnodactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital absence of salivary gland Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Merosin deficient congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nystagmus 6, congenital, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, autosomal dominant 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Afibrinogenemia, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Afibrinogenemia, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Walker-Warburg congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital amegakaryocytic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, autosomal recessive congenital 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom 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. |
Diarrhea 3, secretory sodium, congenital, syndromic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hypoplasia, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital secretory diarrhea, chloride type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testicular anomalies with or without congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart disease, multiple types, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Indifference to pain, congenital, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, autosomal dominant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart defects, multiple types, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital erythropoietic porphyria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital erythropoietic porphyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Eichsfeld type congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2k Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, with excess of muscle spindles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal recessive form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1P Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1v Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult i Blood Group with or without Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, compton-north Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital cystic disease of liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pancreatic agenesis and congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type Ix Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital order of glycosylation type 1r Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ullrich congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, congenital hypomyelinating, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital central hypoventilation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital central hypoventilation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital ocular coloboma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1O Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1y Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digital clubbing, isolated congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1u Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1t Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital defect of folate absorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital aniridia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital aniridia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital hyperammonemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital hyperammonemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom 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. |
Multiple congenital exostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital exostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital microvillous atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital microvillous atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial congenital absence of teeth Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial congenital absence of teeth phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myasthenic syndrome, acetazolamide-responsive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glaucoma, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glaucoma, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular hypertrophy-cerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Stromal Corneal Dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Hyperinsulinism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hyperinsulinism from the curated CTD Gene-Disease Associations dataset. |
Cataract congenital Volkmann type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract congenital Volkmann type from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom 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. |
Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
Congenital bilateral aplasia of vas deferens Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital bilateral aplasia of vas deferens from the curated CTD Gene-Disease Associations dataset. |
Congenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 4 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 4 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Congenital idiopathic intestinal pseudoobstruction Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital idiopathic intestinal pseudoobstruction from the curated CTD Gene-Disease Associations dataset. |
Vertical talus, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vertical talus, congenital from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 1, congenital, X- linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 1, congenital, X- linked from the curated CTD Gene-Disease Associations dataset. |
Facial paresis, hereditary, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Facial paresis, hereditary, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital anosmia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital anosmia from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 5 from the curated CTD Gene-Disease Associations dataset. |
Hyperferritinemia, hereditary, with congenital cataracts Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperferritinemia, hereditary, with congenital cataracts from the curated CTD Gene-Disease Associations dataset. |
Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosiform erythroderma, Brocq congenital, nonbullous form from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Hernias, Diaphragmatic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hernias, Diaphragmatic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIF Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contracture Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Aphakia, congenital primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aphakia, congenital primary from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom 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. |
Nystagmus 2, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital contractural arachnodactyly from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 4, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset. |
Muscular dystrophy congenital, merosin negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative from the curated CTD Gene-Disease Associations dataset. |
Indifference to Pain, Congenital, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Ptosis, Hereditary Congenital 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 1 from the curated CTD Gene-Disease Associations dataset. |
Pain Insensitivity, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pain Insensitivity, Congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital amegakaryocytic thrombocytopenia from the curated CTD Gene-Disease Associations dataset. |
Adrenal Hyperplasia, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal Hyperplasia, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hypoplastic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hypoplastic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized from the curated CTD Gene-Disease Associations dataset. |
Congenital hypertrichosis lanuginosa Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital hypertrichosis lanuginosa from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 10 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 2 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, Compton-North Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder of Glycosylation, Type Io Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom 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. |
Congenital central hypoventilation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital central hypoventilation syndrome from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type Im Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type In Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Zonular, with Sutural Opacities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Zonular, with Sutural Opacities from the curated CTD Gene-Disease Associations dataset. |
Lethal congenital contracture syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal congenital contracture syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Microcoria, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcoria, congenital from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 14 from the curated CTD Gene-Disease Associations dataset. |
ADRENAL HYPOPLASIA, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ADRENAL HYPOPLASIA, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset. |
Ptosis, Hereditary Congenital 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 4, Malabsorptive, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 4, Malabsorptive, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset. |
CAPILLARY MALFORMATIONS, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CAPILLARY MALFORMATIONS, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset. |
Nephrosis, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephrosis, congenital from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
GLAUCOMA 3, PRIMARY CONGENITAL, C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLAUCOMA 3, PRIMARY CONGENITAL, C from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset. |
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Merosin-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset. |
Myopathies, Structural, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathies, Structural, Congenital from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1F from the curated CTD Gene-Disease Associations dataset. |
Cataract, Autosomal Recessive Congenital 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital myasthenic syndrome with episodic apnea Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome with episodic apnea from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset. |
Preauricular Fistulae, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preauricular Fistulae, Congenital from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis from the curated CTD Gene-Disease Associations dataset. |
Lower Extremity Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lower Extremity Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom 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. |
NYSTAGMUS 5, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 5, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Night blindness, congenital stationary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night blindness, congenital stationary from the curated CTD Gene-Disease Associations dataset. |
Fibrosis of Extraocular Muscles, Congenital, 3B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis of Extraocular Muscles, Congenital, 3B from the curated CTD Gene-Disease Associations dataset. |
Sucrase-isomaltase deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital myasthenic syndrome ib Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome ib from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
Marie Unna congenital hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Marie Unna congenital hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
NYSTAGMUS 6, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 6, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 3, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 12 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 13 from the curated CTD Gene-Disease Associations dataset. |
Congenital atransferrinemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital atransferrinemia from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR from the curated CTD Gene-Disease Associations dataset. |
RETT SYNDROME, CONGENITAL VARIANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset. |
Myasthenic syndrome, congenital, postsynaptic slow-channel Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic syndrome, congenital, postsynaptic slow-channel from the curated CTD Gene-Disease Associations dataset. |
Nystagmus, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset. |
Myasthenic Syndromes, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic Syndromes, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A from the curated CTD Gene-Disease Associations dataset. |
Corneal Dystrophy, Congenital Stromal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
Hand Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hand Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
LEBER CONGENITAL AMAUROSIS 15 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEBER CONGENITAL AMAUROSIS 15 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 3, Secretory Sodium, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 3, Secretory Sodium, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset. |
Limb Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Pancreatic Agenesis, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pancreatic Agenesis, Congenital from the curated CTD Gene-Disease Associations dataset. |
Hypertrichosis congenital generalized X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertrichosis congenital generalized X-linked from the curated CTD Gene-Disease Associations dataset. |
Nail dysplasia, isolated congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset. |
Foot Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Foot Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contractural Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contractural Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
Heart Defects, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heart Defects, Congenital from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, Primary Congenital, D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, Primary Congenital, D from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, Primary Congenital, A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, Primary Congenital, A from the curated CTD Gene-Disease Associations dataset. |
Adrenal hyperplasia, congenital, type 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal hyperplasia, congenital, type 5 from the curated CTD Gene-Disease Associations dataset. |
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset. |
Cataract, congenital, with microcornea or slight microphthalmia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, congenital, with microcornea or slight microphthalmia from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom 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. |
Lipoid congenital adrenal hyperplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipoid congenital adrenal hyperplasia from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset. |
Myasthenic Syndrome, Congenital, Fast-Channel Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic Syndrome, Congenital, Fast-Channel from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIH from the curated CTD Gene-Disease Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Retinal Nonattachment, Nonsyndromic Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinal Nonattachment, Nonsyndromic Congenital from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset. |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Woolly hair, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Woolly hair, congenital from the curated CTD Gene-Disease Associations dataset. |
Glycogen Storage Disease of Heart, Lethal Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycogen Storage Disease of Heart, Lethal Congenital from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 5, With Tufting Enteropathy, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 5, With Tufting Enteropathy, Congenital from the curated CTD Gene-Disease Associations dataset. |
Afibrinogenemia congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Afibrinogenemia congenital from the curated CTD Gene-Disease Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset. |
CATARACT, CONGENITAL OR JUVENILE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CATARACT, CONGENITAL OR JUVENILE from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Dyserythropoietic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Dyserythropoietic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
Hyperostosis, Cortical, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperostosis, Cortical, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Lmna-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset. |
congenital afibrinogenemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital afibrinogenemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital disorder of glycosylation from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital heart disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital heart disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ullrich congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital diaphragmatic hernia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital diaphragmatic hernia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital dyserythropoietic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital dyserythropoietic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital generalized lipodystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital generalized lipodystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital nervous system abnormality Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital nervous system abnormality from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hypoplastic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hypoplastic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hypothyroidism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hypothyroidism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital myasthenic syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital myasthenic syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
leber congenital amaurosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease leber congenital amaurosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital stationary night blindness Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital stationary night blindness from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital ichthyosiform erythroderma Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital ichthyosiform erythroderma from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
late congenital syphilis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease late congenital syphilis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type ii Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type ii in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital intrinsic factor deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital generalized lipodystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital generalized lipodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nervous system abnormality Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nervous system abnormality in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital afibrinogenemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital afibrinogenemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital granular cell tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital granular cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypogammaglobulinemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypogammaglobulinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital syphilis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital syphilis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ullrich congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital heart block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital heart block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypoplastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypoplastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital adrenal insufficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital adrenal insufficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital stationary night blindness Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital stationary night blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital ichthyosiform erythroderma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital ichthyosiform erythroderma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nonspherocytic hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nonspherocytic hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital toxoplasmosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital toxoplasmosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital mesoblastic nephroma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital mesoblastic nephroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital heart disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital dyserythropoietic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital dyserythropoietic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital epulis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital epulis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital myasthenic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital myasthenic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital bile acid synthesis defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital diaphragmatic hernia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital diaphragmatic hernia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fukuyama congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital fibrosarcoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital fibrosarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital aphakia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital aphakia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cellular congenital mesoblastic nephroma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cellular congenital mesoblastic nephroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary congenital glaucoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary congenital glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type i Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type i in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
leber congenital amaurosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary congenital glaucoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary congenital glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glaucoma, primary open-angle; glaucoma, primary congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glaucoma, primary open-angle; glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital nuclear cataract Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital nuclear cataract in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital central hypoventilation syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital central hypoventilation syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
limb deformities, congenital; rothmund-thomson syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease limb deformities, congenital; rothmund-thomson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nephropathy, congenital obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nephropathy, congenital obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chuvash-type congenital polycythemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chuvash-type congenital polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital fibrosis of extraocular muscles type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital fibrosis of extraocular muscles type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital adrenal hyperplasia (cah) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital adrenal hyperplasia (cah) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
phenytoin-induced congenital malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease phenytoin-induced congenital malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital cardiac malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital cardiac malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; hyperandrogenism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital nephrosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital nephrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hip dislocation, congenital; joint instability Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hip dislocation, congenital; joint instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital thrombotic thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital thrombotic thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dilatation, pathologic; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriovenous malformations; congenital arteriovenous malformation; hemorrhage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital megacolon; enterocolitis; hirschsprung disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital megacolon; enterocolitis; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital megacolon; hirschsprung disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital megacolon; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glaucoma, primary congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital intrinsic factor deficiency. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital intrinsic factor deficiency. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ullrich congenital muscular dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ullrich congenital muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
toxoplasmosis, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease toxoplasmosis, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathies; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathies; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy; heart anomalies, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy; heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital bilateral absence of the vas deferens Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital bilateral absence of the vas deferens in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital fibrosis of the extraocular muscles Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital fibrosis of the extraocular muscles in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital haptoglobin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital haptoglobin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chorioretinitis; toxoplasmosis, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chorioretinitis; toxoplasmosis, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
wilms' tumor and congenital male genitourinary malformation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease wilms' tumor and congenital male genitourinary malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital and subclinical hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital and subclinical hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
late-onset congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease late-onset congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital ductus arteriosus aneurysm Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital ductus arteriosus aneurysm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital primary hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital primary hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital sick sinus syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital sick sinus syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
disease models, animal; ichthyosiform erythroderma, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease disease models, animal; ichthyosiform erythroderma, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; hypothyroidism; thyroid dysgenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital megacolon; hirschsprung disease; urea cycle disorders, inborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital megacolon; hirschsprung disease; urea cycle disorders, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ichthyosiform erythroderma, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ichthyosiform erythroderma, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hip dislocation, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hip dislocation, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; heart defects, congenital; hypertension, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies; cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber congenital amaurosis and a normal ocular phenotype Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leber congenital amaurosis and a normal ocular phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies; renal disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; renal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital athyreosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital athyreosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; pulmonary hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; pulmonary hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital contractural arachnodactyly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital contractural arachnodactyly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital hypothyroidism; thyroid dysgenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; spinal dysraphism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene SetFrom GAD Gene-Disease Associations genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital goiter and defective tg synthesis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital goiter and defective tg synthesis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital polycythemia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital polycythemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune-associated congenital heart block. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune-associated congenital heart block. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber congenital amaurosis/lca Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leber congenital amaurosis/lca in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital uropathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital uropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital cataracts Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital cataracts in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital hypothyroidism; cretinism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital hypothyroidism; cretinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber congenital amaurosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leber congenital amaurosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term congenital in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Leber congenital amaurosis_Retina_GSE3249 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Leber congenital amaurosis_Retina_GSE3249 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Congenital heart malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Congenital heart disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Congenital heart disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
congenital heart disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease congenital heart disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
congenital hemolytic anemia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease congenital hemolytic anemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
congenital glaucoma Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
primary congenital glaucoma Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the primary congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
congenital stapes ankylosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital stapes ankylosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive congenital scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive congenital scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypoparathyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypoparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital nuclear cataract Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nuclear cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital neutropenia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital neutropenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital ptosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital ptosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital primary aphakia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital primary aphakia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital bilateral hip dislocation Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital bilateral hip dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital muscular torticollis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital muscular torticollis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital corneal dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital localized absence of skin Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital localized absence of skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
numerous congenital melanocytic nevi Gene SetFrom HPO Gene-Disease Associations genes associated with the numerous congenital melanocytic nevi phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital abnormal hair pattern Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital abnormal hair pattern phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hepatic fibrosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hepatic fibrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital laryngeal stridor Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital laryngeal stridor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the great arteries Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the great arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital contracture Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital contracture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital palmoplantar keratosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital palmoplantar keratosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital blindness Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital pseudoarthrosis of the clavicle Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital pseudoarthrosis of the clavicle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital fibrosis of extraocular muscles Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital fibrosis of extraocular muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital kyphoscoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital kyphoscoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypertrophy of left ventricle Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypertrophy of left ventricle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital goiter Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonprogressive congenital retinal dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive congenital retinal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital adrenal hyperplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital adrenal hyperplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital macroorchidism Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital macroorchidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital stationary night blindness Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital stationary night blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital nephrotic syndrome Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nephrotic syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypertrophy of retinal pigment epithelium Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypertrophy of retinal pigment epithelium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the right heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the right heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital posterior urethral valve Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital posterior urethral valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital nonbullous ichthyosiform erythroderma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nonbullous ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the left heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the left heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital cataract Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
primary congenital glaucoma Gene SetFrom HPO Gene-Disease Associations genes associated with the primary congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital onychodystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital onychodystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital ichthyosiform erythroderma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hip dislocation Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hip dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital foot contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital foot contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
late onset congenital glaucoma Gene SetFrom HPO Gene-Disease Associations genes associated with the late onset congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital thrombocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital thrombocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital agranulocytosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital agranulocytosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital muscular dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital finger flexion contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital finger flexion contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital giant melanocytic nevus Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital giant melanocytic nevus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital strabismus Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital strabismus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypoplastic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypoplastic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital glaucoma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital bullous ichthyosiform erythroderma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital bullous ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital symmetrical palmoplantar keratosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital symmetrical palmoplantar keratosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital, generalized hypertrichosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital, generalized hypertrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital diaphragmatic hernia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital diaphragmatic hernia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital pyloric atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital pyloric atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital onset Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Congenital Hypothyroidism Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Hypothyroidism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Congenital Hyperinsulinism Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Hyperinsulinism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Congenital Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic, Congenital Nonspherocytic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Pain Insensitivity, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Pain Insensitivity, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Adrenal Hyperplasia, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Adrenal Hyperplasia, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ichthyosiform Erythroderma, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ichthyosiform Erythroderma, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Heart Defects, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Heart Defects, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Congenital Disorders of Glycosylation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Disorders of Glycosylation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Upper Extremity Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Upper Extremity Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Myopathies, Structural, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Myopathies, Structural, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Leber Congenital Amaurosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Leber Congenital Amaurosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Lower Extremity Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Lower Extremity Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Hand Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hand Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Limb Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Limb Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Foot Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Foot Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Hip Dislocation, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hip Dislocation, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
dyserythropoietic anemia, congenital, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia, congenital, with tubular aggregates 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia, congenital, with tubular aggregates 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene SetFrom 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. |
?myosclerosis, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myosclerosis, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ih Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ih phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ij Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ij phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ik Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ik phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type il Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type il phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type im Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type im phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type id Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type id phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ie Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ie phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type if Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type if phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ig Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ig phenotype from the curated OMIM Gene-Disease Associations dataset. |
?ptosis, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?ptosis, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iq Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iq phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type it Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type it phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iu Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iu phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, neonatal, with congenital hypothyroidism Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, neonatal, with congenital hypothyroidism phenotype from the curated OMIM Gene-Disease Associations dataset. |
ptosis, hereditary congenital, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ptosis, hereditary congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aural atresia, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the aural atresia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, megaconial type Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, megaconial type phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary, autosomal dominant 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary, autosomal dominant 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
diarrhea 4, malabsorptive, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the diarrhea 4, malabsorptive, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
t-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the t-cell immunodeficiency, congenital alopecia, and nail dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
porphyria, congenital erythropoietic Gene SetFrom OMIM Gene-Disease Associations genes associated with the porphyria, congenital erythropoietic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |