| Name |
|---|
CHNG3 GeneHypothyroidism, congenital, nongoitrous, 3 |
OS4 GeneOsteoarthritis, generalized, without dysplasia, susceptibility to |
TNFRSF10C Genetumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008] |
CTEPH1 GenePulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to |
MGR3 GeneMigraine, familial, with or without aura, susceptibility to |
MGR5 GeneMigraine with or without aura, susceptibility to, 5 |
LILRA3 Geneleukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014] |
RIT2 GeneRas-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008] |
RIT1 GeneRas-like without CAAX 1 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
HTGH GeneHypertrichosis terminalis, generalized, with or without gingival hyperplasia |
RPH3AL Generabphilin 3A-like (without C2 domains) The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] |
ANOP1 Geneanophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) |
MGR12 GeneMigraine, with or without aura, susceptibility to, 12 |
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 |
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 Hypothyroidism Without Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hypothyroidism Without Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
goiter; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease goiter; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Goiter, multinodular 1, with or without sertoli-leydig cell tumors phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
goiter, multinodular 1, with or without sertoli-leydig cell tumors Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, multinodular 1, with or without sertoli-leydig cell tumors phenotype from the curated OMIM 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 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. |
Congenital Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease 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 Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hypothyroidism 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. |
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. |
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. |
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. |
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. |
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 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. |
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. |
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. |
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; 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 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. |
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. |
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 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. |
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. |
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, nongoitrous, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, nongoitrous, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, nongoitrous, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital nongoitrous, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital nongoitrous, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, nongoitrous Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, nongoitrous phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Central Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Central Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hypothyroidism With Ectopic Thyroid Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hypothyroidism With Ectopic Thyroid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Genetic Transient Congenital Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Genetic Transient Congenital Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Congenital Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Congenital Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital hypothyroidism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital hypothyroidism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nongoitrous hypothyroidism 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nongoitrous hypothyroidism 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nongoitrous hypothyroidism 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nongoitrous hypothyroidism 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nongoitrous hypothyroidism 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nongoitrous hypothyroidism 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nongoitrous hypothyroidism 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nongoitrous hypothyroidism 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nongoitrous hypothyroidism 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nongoitrous hypothyroidism 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neonatal diabetes mellitus with congenital hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neonatal diabetes mellitus with congenital hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Genetic transient congenital hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genetic transient congenital hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked central congenital hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked central congenital hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital nongoitrous hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital nongoitrous hypothyroidism 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. |
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. |
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 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
central hypoventilation syndrome, congenital, with or without hirschsprung disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the central hypoventilation syndrome, congenital, with or without hirschsprung disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?testicular anomalies with or without congenital heart disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?testicular anomalies with or without congenital heart disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
left ventricular noncompaction 1, with or without congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
Testicular Anomalies With Or Without Congenital Heart Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Testicular Anomalies With Or Without Congenital Heart Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Goiter, Multinodular 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Goiter, Multinodular 2 from the curated CTD Gene-Disease Associations dataset. |
Goiter, Multinodular 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Goiter, Multinodular 3 from the curated CTD Gene-Disease Associations dataset. |
Goiter Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Goiter from the curated CTD Gene-Disease Associations dataset. |
Goiter Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Goiter in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
nodular goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nodular goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
endemic goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease endemic goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
multinodular goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease multinodular goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dyshormonogenic goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dyshormonogenic goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
substernal goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease substernal goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
nontoxic goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease nontoxic goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
toxic diffuse goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease toxic diffuse goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
carcinoma, papillary; cell transformation, neoplastic; goiter, nodular; thyroid neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, papillary; cell transformation, neoplastic; goiter, nodular; thyroid neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
goiter; hearing loss, sensorineural Gene SetFrom GAD Gene-Disease Associations genes associated with the disease goiter; hearing loss, sensorineural in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, papillary; carcinoma, papillary, follicular; goiter, nodular; thyroid neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, papillary; carcinoma, papillary, follicular; goiter, nodular; thyroid neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
goiter; hearing loss, sensorineural; vertigo Gene SetFrom GAD Gene-Disease Associations genes associated with the disease goiter; hearing loss, sensorineural; vertigo in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
goiter Gene SetFrom GAD Gene-Disease Associations genes associated with the disease goiter in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
goiter, nodular; thyrotoxicosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease goiter, nodular; thyrotoxicosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
goiter; hearing loss, sensorineural; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease goiter; hearing loss, sensorineural; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
goiter, nodular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease goiter, nodular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carcinoma, papillary; goiter, nodular; hashimoto disease; neoplasm invasiveness; thyroid neoplasms Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carcinoma, papillary; goiter, nodular; hashimoto disease; neoplasm invasiveness; thyroid neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
goiter Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term goiter in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
goiter Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease goiter in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
thyrotoxicosis with diffuse goiter Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the thyrotoxicosis with diffuse goiter phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
euthyroid multinodular goiter Gene SetFrom HPO Gene-Disease Associations genes associated with the euthyroid multinodular goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
goiter Gene SetFrom HPO Gene-Disease Associations genes associated with the goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nodular goiter Gene SetFrom HPO Gene-Disease Associations genes associated with the nodular goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
euthyroid goiter Gene SetFrom HPO Gene-Disease Associations genes associated with the euthyroid goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
multinodular goiter Gene SetFrom HPO Gene-Disease Associations genes associated with the multinodular goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Goiter Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Goiter phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Goiter, Nodular Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Goiter, Nodular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
goiter, familial, due to ttf-1 defect Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, multinodular, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, multinodular, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
goiter, multinodular, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the goiter, multinodular, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Multinodular Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multinodular Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nodular Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nodular Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Euthyroid Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Euthyroid Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nontoxic Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nontoxic Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adenomatous Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adenomatous Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toxic Multinodular Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toxic Multinodular Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Non-Toxic Nodular Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Non-Toxic Nodular Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Colloid Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Colloid Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Endemic Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Endemic Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Euthyroid Multinodular Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Euthyroid Multinodular Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Non-Toxic Multinodular Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Non-Toxic Multinodular Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Dyshormonogenetic Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Dyshormonogenetic Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypothyroid Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypothyroid Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dyshormonogenic Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dyshormonogenic Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toxic Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toxic Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toxic Nodular Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toxic Nodular Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Toxic Diffuse Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Toxic Diffuse Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Diffuse Goiter Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Diffuse Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Goiter Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Goiter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nodular goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nodular goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multinodular goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multinodular goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nontoxic goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nontoxic goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Endemic goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Endemic goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Substernal goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Substernal goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dyshormonogenic goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dyshormonogenic goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Toxic diffuse goiter Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Toxic diffuse goiter in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Euthyroid goiter Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Euthyroid goiter phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypothyroidism, central, and testicular enlargement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Secondary hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Secondary hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Hypothyroidism in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
hypothyroidism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hypothyroidism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hypothyroidism Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease hypothyroidism in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
postsurgical hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease postsurgical hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
graves disease; hashimoto disease; hyperthyroidism; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; hashimoto disease; hyperthyroidism; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypothyroidism; thyroid dysgenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypothyroidism; cleft palate, isolated; thyroid agenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypothyroidism; cleft palate, isolated; thyroid agenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypothyroidism, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypothyroidism, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft palate; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft palate; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; hepatitis b; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; hepatitis b; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hashimoto disease; hypothyroidism; postpartum thyroiditis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hashimoto disease; hypothyroidism; postpartum thyroiditis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypercholesterolemia of hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypercholesterolemia of hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hepatitis c; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hepatitis c; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hemochromatosis; hyperthyroidism; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hemochromatosis; hyperthyroidism; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alzheimer disease; dementia; hypothyroidism; memory disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alzheimer disease; dementia; hypothyroidism; memory disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
graves disease; graves' disease; hashimoto disease; hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease graves disease; graves' disease; hashimoto disease; hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypothyroidism Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term hypothyroidism in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Hypothyroidism Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Hypothyroidism phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
hypothyroidism Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease hypothyroidism in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
hypothyroidism Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the hypothyroidism phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
central hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the central hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
primary hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the primary hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
compensated hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the compensated hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypothalamic hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the hypothalamic hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
pituitary hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the pituitary hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hypothyroidism Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hypothyroidism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
hypothyroidism, central, and testicular enlargement Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, central, and testicular enlargement phenotype from the curated OMIM Gene-Disease Associations dataset. |
choreoathetosis, hypothyroidism, and neonatal respiratory distress Gene SetFrom OMIM Gene-Disease Associations genes associated with the choreoathetosis, hypothyroidism, and neonatal respiratory distress phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Subclinical Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Subclinical Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Central Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Central Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Secondary Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Secondary Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Maternal Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Maternal Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acquired Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acquired Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Primary Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Primary Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Compensated Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Compensated Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Transient Neonatal Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Transient Neonatal Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypothalamic Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypothalamic Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Postoperative Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Postoperative Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tertiary Hypothyroidism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tertiary Hypothyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypothyroidism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hypothyroidism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hypothyroidism Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Hypothyroidism in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Postsurgical hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Postsurgical hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Iodine hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Iodine hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypothyroidism due to TSH receptor mutations Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypothalamic hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypothalamic hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pituitary hypothyroidism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pituitary hypothyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hypothyroidism Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypothyroidism phenotype in GWAS datasets from the GWAS Catalog SNP-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. |
Bronchiectasis with or without elevated sweat chloride 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial septal defect 7 with or without atrioventricular conduction defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukoencephalopathy, cystic, without megalencephaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukoencephalopathy, cystic, without megalencephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cognitive impairment with or without cerebellar ataxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cognitive impairment with or without cerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 19 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 19 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 17 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 17 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bronchiectasis with or without elevated sweat chloride 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bronchiectasis with or without elevated sweat chloride 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, without vestibular involvement, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, without vestibular involvement, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Capillary malformation without arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Capillary malformation without arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrodysostosis 2, with or without hormone resistance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrodysostosis 2, with or without hormone resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 13 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 13 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, with or without seizures, ARX-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 10 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypogonadotropic hypogonadism 11 with or without anosmia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypogonadotropic hypogonadism 11 with or without anosmia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency 26 with or without neurologic abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency 26 with or without neurologic abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
H2AX complex, isolated from cells without IR exposure Gene Setproteins in the H2AX complex, isolated from cells without IR exposure protein complex from the CORUM Protein Complexes dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset. |
Leukoencephalopathy, Cystic, Without Megalencephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukoencephalopathy, Cystic, Without Megalencephaly from the curated CTD Gene-Disease Associations dataset. |
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Migraine without Aura from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 1 from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 2 from the curated CTD Gene-Disease Associations dataset. |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bronchiectasis With Or Without Elevated Sweat Chloride 3 from the curated CTD Gene-Disease Associations dataset. |
Immunodeficiency without anhidrotic ectodermal dysplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset. |
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE from the curated CTD Gene-Disease Associations dataset. |
Bifid Nose With Or Without Anorectal And Renal Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) from the curated CTD Gene-Disease Associations dataset. |
Metaphyseal Dysplasia without Hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related from the curated CTD Gene-Disease Associations dataset. |
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset. |
PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset. |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset. |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA from the curated CTD Gene-Disease Associations dataset. |
Nonmedullary thyroid carcinoma, with or without cell oxyphilia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nonmedullary thyroid carcinoma, with or without cell oxyphilia from the curated CTD Gene-Disease Associations dataset. |
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset. |
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia from the curated CTD Gene-Disease Associations dataset. |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Migraine without Aura in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
migraine without aura Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease migraine without aura in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cleft lip with cleft palate; cleft lip without cleft palate; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
salmeterol with or without fluticasone propionate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease salmeterol with or without fluticasone propionate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine disorders; migraine with aura; migraine without aura; tension-type headache Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine disorders; migraine with aura; migraine without aura; tension-type headache in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with or without cleft palate; cleft palate, isolated Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with or without cleft palate; cleft palate, isolated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with cleft palate; cleft lip without cleft palate; cleft lip Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft lip in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine with aura; migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nonsyndromic cleft lipor without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nonsyndromic cleft lipor without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine with and without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine with and without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip without cleft palate; cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
migraine disorders; migraine with aura; migraine without aura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease migraine disorders; migraine with aura; migraine without aura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nonsyndromic cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nonsyndromic cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
without Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term without in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
Migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
migraine without aura Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease migraine without aura in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
migraine without aura Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the migraine without aura phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
focal seizures without impairment of consciousness or awareness Gene SetFrom HPO Gene-Disease Associations genes associated with the focal seizures without impairment of consciousness or awareness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
migraine without aura Gene SetFrom HPO Gene-Disease Associations genes associated with the migraine without aura phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Migraine without Aura Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Migraine without Aura phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
epilepsy, progressive myoclonic 3, with or without intracellular inclusions Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 3, with or without intracellular inclusions phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypogonadotropic hypogonadism 15 with or without anosmia} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypogonadotropic hypogonadism 15 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
brain small vessel disease with or without ocular anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the brain small vessel disease with or without ocular anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
paragangliomas 1, with or without deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the paragangliomas 1, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 4 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 14 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 14 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome, type 2e, with or without neurologic involvement Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome, type 2e, with or without neurologic involvement phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
cognitive impairment with or without cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the cognitive impairment with or without cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 10 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 10 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 3 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 3 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine without aura, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine without aura, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 8 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 8 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukemia, megakaryoblastic, with or without down syndrome, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukemia, megakaryoblastic, with or without down syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
antley-bixler syndrome without genital anomalies or disordered steroidogenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the antley-bixler syndrome without genital anomalies or disordered steroidogenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 5 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 5 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
?microtia with or without hearing impairment (ad) Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?microtia with or without hearing impairment (ad) phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 11 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 11 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 18 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 18 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
{bronchiectasis with or without elevated sweat chloride 1, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {bronchiectasis with or without elevated sweat chloride 1, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene SetFrom OMIM Gene-Disease Associations genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine, with or without aura, susceptibility to, 12} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine, with or without aura, susceptibility to, 12} phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Gene SetFrom OMIM Gene-Disease Associations genes associated with the dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 2 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 2 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bronchiectasis with or without elevated sweat chloride 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bronchiectasis with or without elevated sweat chloride 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis Gene SetFrom OMIM Gene-Disease Associations genes associated with the foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
acrodysostosis 1, with or without hormone resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrodysostosis 1, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 20 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 20 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypogonadotropic hypogonadism 13 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypogonadotropic hypogonadism 13 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary hypertension, familial primary, 1, with or without hht Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary hypertension, familial primary, 1, with or without hht phenotype from the curated OMIM Gene-Disease Associations dataset. |
?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 1, with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 4 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 4 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dementia, frontotemporal, with or without parkinsonism Gene SetFrom OMIM Gene-Disease Associations genes associated with the dementia, frontotemporal, with or without parkinsonism phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 9 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 9 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine without aura, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine without aura, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
tooth agenesis, selective, 1, with or without orofacial cleft Gene SetFrom OMIM Gene-Disease Associations genes associated with the tooth agenesis, selective, 1, with or without orofacial cleft phenotype from the curated OMIM Gene-Disease Associations dataset. |
{pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hypogonadotropic hypogonadism 12 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 6 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 6 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 9, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 9, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
cataract, pulverulent or cerulean, with or without microcornea Gene SetFrom OMIM Gene-Disease Associations genes associated with the cataract, pulverulent or cerulean, with or without microcornea phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombocytopenia, x-linked, with or without dyserythropoietic anemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, x-linked, with or without dyserythropoietic anemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
gastric cancer, familial diffuse, with or without cleft lip and/or palate Gene SetFrom OMIM Gene-Disease Associations genes associated with the gastric cancer, familial diffuse, with or without cleft lip and/or palate phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinitis pigmentosa with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, progressive myoclonic 4, with or without renal failure Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 7, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 7, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
gyrate atrophy of choroid and retina with or without ornithinemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the gyrate atrophy of choroid and retina with or without ornithinemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 19 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 19 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, with or without nystagmus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, neurosensory, without vestibular involvement, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, neurosensory, without vestibular involvement, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 14, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
adult i phenotype without cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the adult i phenotype without cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy, cystic, without megalencephaly Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy, cystic, without megalencephaly phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
branchiootorenal syndrome 1, with or without cataracts Gene SetFrom OMIM Gene-Disease Associations genes associated with the branchiootorenal syndrome 1, with or without cataracts phenotype from the curated OMIM Gene-Disease Associations dataset. |
mcleod syndrome with or without chronic granulomatous disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the mcleod syndrome with or without chronic granulomatous disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine with or without aura, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine with or without aura, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 1, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 1, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine, with or without aura, susceptibility to, 13} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine, with or without aura, susceptibility to, 13} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypogonadotropic hypogonadism 16 with or without anosmia} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypogonadotropic hypogonadism 16 with or without anosmia} phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial septal defect 7, with or without av conduction defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
bifid nose with or without anorectal and renal anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the bifid nose with or without anorectal and renal anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
androgen insensitivity, partial, with or without breast cancer Gene SetFrom OMIM Gene-Disease Associations genes associated with the androgen insensitivity, partial, with or without breast cancer phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 17 with or without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 17 with or without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, focal, with speech disorder and with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
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. |
short-rib thoracic dysplasia 2 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 2 with or without hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypertrichosis terminalis, generalized, with or without gingival hyperplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertrichosis terminalis, generalized, with or without gingival hyperplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
immunodeficiency 16, with or without neurologic abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the immunodeficiency 16, with or without neurologic abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 5 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine with or without aura, susceptibility to Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine with or without aura, susceptibility to phenotype from the curated OMIM Gene-Disease Associations dataset. |
ciliary dyskinesia, primary, 3, with or without situs inversus Gene SetFrom OMIM Gene-Disease Associations genes associated with the ciliary dyskinesia, primary, 3, with or without situs inversus phenotype from the curated OMIM Gene-Disease Associations dataset. |
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
acrodysostosis 2, with or without hormone resistance Gene SetFrom OMIM Gene-Disease Associations genes associated with the acrodysostosis 2, with or without hormone resistance phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperproinsulinemia, familial, with or without diabetes Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperproinsulinemia, familial, with or without diabetes phenotype from the curated OMIM Gene-Disease Associations dataset. |
left ventricular noncompaction 3, with or without dilated cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the left ventricular noncompaction 3, with or without dilated cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypogonadotropic hypogonadism 7 without anosmia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypogonadotropic hypogonadism 7 without anosmia phenotype from the curated OMIM Gene-Disease Associations dataset. |
anterior segment anomalies with or without cataract Gene SetFrom OMIM Gene-Disease Associations genes associated with the anterior segment anomalies with or without cataract phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
dystonia, dopa-responsive, with or without hyperphenylalaninemia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dystonia, dopa-responsive, with or without hyperphenylalaninemia phenotype from the curated OMIM Gene-Disease Associations dataset. |
sweat chloride elevation without cf Gene SetFrom OMIM Gene-Disease Associations genes associated with the sweat chloride elevation without cf phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 15, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cardiac conduction disease with or without dilated cardiomyopathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cardiac conduction disease with or without dilated cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyotrophic lateral sclerosis 10, with or without ftd Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 10, with or without ftd phenotype from the curated OMIM Gene-Disease Associations dataset. |
Progressive Cone Dystrophy (Without Rod Involvement) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Cone Dystrophy (Without Rod Involvement) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cleft Lip With Or Without Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonmedullary Thyroid Carcinoma, With Or Without Cell Oxyphilia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonmedullary Thyroid Carcinoma, With Or Without Cell Oxyphilia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Respiratory Failure Without Hypercapnia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Respiratory Failure Without Hypercapnia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dentinogenesis Imperfecta Without Osteogenesis Imperfecta in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyposis Of Gastric Fundus Without Polyposis Coli Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyposis Of Gastric Fundus Without Polyposis Coli in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Esophageal Atresia With Or Without Tracheoesophageal Fistula Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Esophageal Atresia With Or Without Tracheoesophageal Fistula in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
2P21 Microdeletion Syndrome Without Cystinuria Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 2P21 Microdeletion Syndrome Without Cystinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chagas' Disease Without Mention Of Organ Involvement Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chagas' Disease Without Mention Of Organ Involvement in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dengue Without Warning Signs Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dengue Without Warning Signs in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult Acute Myeloid Leukemia Without Maturation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Acute Myeloid Leukemia Without Maturation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sweat Chloride Elevation Without Cystic Fibrosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sweat Chloride Elevation Without Cystic Fibrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Cholecystitis Without Calculus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Cholecystitis Without Calculus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anterior Segment Anomalies With Or Without Cataract Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anterior Segment Anomalies With Or Without Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vacterl Association, X-Linked, With Or Without Hydrocephalus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vacterl Association, X-Linked, With Or Without Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Panic Disorder Without Agoraphobia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Panic Disorder Without Agoraphobia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bpes Without Ovarian Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bpes Without Ovarian Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fetal Malnutrition Without Mention Of Light-For-Dates Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fetal Malnutrition Without Mention Of Light-For-Dates in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Narcolepsy Without Cataplexy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Narcolepsy Without Cataplexy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microtia With Or Without Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microtia With Or Without Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microtia Without Hearing Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microtia Without Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duane Retraction Syndrome 3 With Or Without Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duane Retraction Syndrome 3 With Or Without Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Malformations With Or Without Urinary Tract Defects Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Malformations With Or Without Urinary Tract Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary Malformation Without Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation Without Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cognitive Impairment With Or Without Cerebellar Ataxia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cognitive Impairment With Or Without Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonsyndromic Cleft Lip With Or Without Cleft Palate Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonsyndromic Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Genetic Hyperferritinemia Without Iron Overload Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Genetic Hyperferritinemia Without Iron Overload in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
cell cycle comprising mitosis without cytokinesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cell cycle comprising mitosis without cytokinesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 22 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 22 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 6 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 6 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 9 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 12 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 12 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Migraine without aura Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Migraine without aura in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Primary autosomal recessive microcephaly 2 with or without cortical malformations Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Primary autosomal recessive microcephaly 2 with or without cortical malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 15 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 15 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 6 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Acute myeloid leukemia without maturation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Acute myeloid leukemia without maturation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 4 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 4 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked cleft palate with or without ankyloglossia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked cleft palate with or without ankyloglossia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental delay and seizures with or without movement abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental delay and seizures with or without movement abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 10 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 23 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 23 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 2 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 2 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 14 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 14 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial progressive hyperpigmentation with or without hypopigmentation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial progressive hyperpigmentation with or without hypopigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 18 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 18 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 3 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 3 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 5 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 5 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 7 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 7 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 8 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 11 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 13 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 13 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 7 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 16 with or without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 16 with or without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypogonadotropic hypogonadism 24 without anosmia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hypogonadotropic hypogonadism 24 without anosmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Antley-Bixler syndrome without disordered steroidogenesis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Antley-Bixler syndrome without disordered steroidogenesis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Restless legs syndrome in migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Restless legs syndrome in migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Migraine without aura Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Migraine without aura phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Nonsyndromic cleft lip with or without cleft palate Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nonsyndromic cleft lip with or without cleft palate phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Acute anterior uveitis (with or without ankylosing spondylitis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Acute anterior uveitis (with or without ankylosing spondylitis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pulmonary arterial hypertension (without BMPR2 mutations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pulmonary arterial hypertension (without BMPR2 mutations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bicuspid aortic valve without aortic dilation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bicuspid aortic valve without aortic dilation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Spontaneous preterm birth without premature rupture of membranes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Spontaneous preterm birth without premature rupture of membranes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 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. |
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. |
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. |
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 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. |
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 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. |
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. |
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. |
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. |
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. |
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. |
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. |
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. |
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 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. |
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. |
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. |
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 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 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. |
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. |
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 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. |
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. |
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. |