| Name |
|---|
ICR3 Geneichthyosis congenita III, vulgaris-like recessive ichthyosis |
ICR1 Geneichthyosis congenita I, erythromatous lamellar ichthyosis, ichthyosiform erythroderma |
ICR4 Geneichthyosis congenita IV, ichthyosis-prematurity syndrome |
EBM Geneepidermolysis bullosa, macular type |
EBR3 Geneepidermolysis bullosa 3, progressiva |
EBR4 Geneepidermolysis bullosa 4, pseudojunctional (intraepidermal) |
LI5 GeneLamellar ichthyosis 5 |
ARCI9 GeneIchthyosis, congenital, autosomal recessive 9 |
ARCI7 GeneIchthyosis, congenital, autosomal recessive 7 |
Ichthyosis Bullosa of Siemens Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis Bullosa of Siemens from the curated CTD Gene-Disease Associations dataset. |
ichthyosis bullosa of siemens Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis bullosa of siemens phenotype from the curated OMIM Gene-Disease Associations dataset. |
Ichthyosis Bullosa Of Siemens Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Bullosa Of Siemens in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ichthyosis bullosa of Siemens Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis bullosa of Siemens phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene SetFrom OMIM Gene-Disease Associations genes associated with the exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated OMIM Gene-Disease Associations dataset. |
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
siemens Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term siemens in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Hallopeau-Siemens Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hallopeau-Siemens Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Christ-Siemens-Touraine Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Christ-Siemens-Touraine Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-linked ichthyosis with steryl-sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Triglyceride storage disease with ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Triglyceride storage disease with ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lamellar ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lamellar ichthyosis 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. |
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. |
Ichthyosis prematurity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis prematurity syndrome 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. |
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis with hypotrichosis, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset. |
Harlequin type ichthyosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Harlequin type ichthyosis from the curated CTD Gene-Disease Associations dataset. |
Lamellar ichthyosis, type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lamellar ichthyosis, type 2 from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, Lamellar, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Lamellar, 5 from the curated CTD Gene-Disease Associations dataset. |
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis Vulgaris Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis Vulgaris 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. |
Ichthyosis follicularis atrichia photophobia syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis follicularis atrichia photophobia syndrome from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, Lamellar Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Lamellar from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis hystrix, Curth Macklin type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis hystrix, Curth Macklin type from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis prematurity syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis prematurity syndrome from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Lamellar ichthyosis, type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lamellar ichthyosis, type 3 from the curated CTD Gene-Disease Associations dataset. |
x-linked ichthyosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease x-linked ichthyosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ichthyosis vulgaris Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ichthyosis vulgaris in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ichthyosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ichthyosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ichthyosis vulgaris Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ichthyosis vulgaris in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dermatitis, atopic; ichthyosis vulgaris Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dermatitis, atopic; ichthyosis vulgaris in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ichthyosis, x-linked Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ichthyosis, x-linked in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lamellar ichthyosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lamellar ichthyosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dermatitis, allergic contact; hypersensitivity; hypersensitivity, immediate; ichthyosis vulgaris Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dermatitis, allergic contact; hypersensitivity; hypersensitivity, immediate; ichthyosis vulgaris in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ichthyosis Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term ichthyosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
ichthyosis Gene SetFrom HPO Gene-Disease Associations genes associated with the ichthyosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Ichthyosis, X-Linked Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ichthyosis, X-Linked phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ichthyosis Vulgaris Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ichthyosis Vulgaris phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ichthyosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ichthyosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
ichthyosis, cyclic, with epidermolytic hyperkeratosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, cyclic, with epidermolytic hyperkeratosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
hystrix-like ichthyosis with deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the hystrix-like ichthyosis with deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
keratosis linearis with ichthyosis congenita and sclerosing keratoderma Gene SetFrom OMIM Gene-Disease Associations genes associated with the keratosis linearis with ichthyosis congenita and sclerosing keratoderma phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis vulgaris Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis vulgaris phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis prematurity syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis prematurity syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis histrix, curth-macklin type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis histrix, curth-macklin type phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 4a Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 4a phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, autosomal recessive 4b (harlequin) Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, autosomal recessive 4b (harlequin) phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis with confetti Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis with confetti phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
keratitis-ichthyosis-deafness syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the keratitis-ichthyosis-deafness syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
vohwinkel syndrome with ichthyosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the vohwinkel syndrome with ichthyosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Setproteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways dataset. |
Triglyceride Storage Disease With Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Triglyceride Storage Disease With Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Harlequin Type Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Harlequin Type Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ichthyosis Congenita Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Congenita in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lamellar Ichthyosis, Type 2 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lamellar Ichthyosis, Type 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Keratitis-Ichthyosis-Deafness Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Keratitis-Ichthyosis-Deafness Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ichthyosis Vulgaris Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Vulgaris in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bathing Suit Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bathing Suit Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Ichthyosis Vulgaris Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Ichthyosis Vulgaris in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ichthyosis Follicularis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Follicularis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ichthyosis Hystrix Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Hystrix in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Keratinopathic Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Keratinopathic Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Follicular Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Follicular Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Recessive Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Syndromic Recessive X-Linked Ichthyosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Recessive X-Linked Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ichthyosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Ichthyosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) Gene Setproteins participating in the Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) pathway from the Reactome Pathways 2024 dataset. |
Ichthyosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ichthyosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive congenital ichthyosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 4B Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive congenital ichthyosis 4B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Ichthyosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ichthyosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked ichthyosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked ichthyosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ichthyosis vulgaris Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ichthyosis vulgaris in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 4B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 4B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 11 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 4A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 4A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 9 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis 10 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant keratitis-ichthyosis-deafness syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant keratitis-ichthyosis-deafness syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ichthyosis follicularis-alopecia-photophobia syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ichthyosis follicularis-alopecia-photophobia syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal recessive congenital ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive congenital ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lamellar ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lamellar ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Keratoderma-ichthyosis-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratoderma-ichthyosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital ichthyosis of skin Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital ichthyosis of skin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ichthyosis linearis circumflexa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis linearis circumflexa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ichthyosis prematurity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis prematurity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Exfoliative ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Exfoliative ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolytic ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolytic ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Annular epidermolytic ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Annular epidermolytic ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant epidermolytic ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant epidermolytic ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ichthyosis vulgaris Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis vulgaris phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant keratitis-ichthyosis-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Neonatal ichthyosis-sclerosing cholangitis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal ichthyosis-sclerosing cholangitis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Keratitis ichthyosis and deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratitis ichthyosis and deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant ichthyosis vulgaris Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant ichthyosis vulgaris phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked ichthyosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive keratitis-ichthyosis-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive keratitis-ichthyosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pretibial epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pretibial epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa simplex, Koebner type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex, Koebner type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa simplex with pyloric atresia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex with pyloric atresia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Generalized dominant dystrophic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Generalized dominant dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Junctional epidermolysis bullosa gravis of Herlitz Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Junctional epidermolysis bullosa gravis of Herlitz phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa simplex, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa, junctional, localisata variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa, junctional, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult junctional epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult junctional epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa with pyloric atresia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa with pyloric atresia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Recessive dystrophic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Recessive dystrophic epidermolysis bullosa 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. |
Dominant dystrophic epidermolysis bullosa with absence of skin Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dominant dystrophic epidermolysis bullosa with absence of skin phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica inversa, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa simplex, Ogna type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex, Ogna type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis bullosa, lethal acantholytic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa, lethal acantholytic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epidermolysis Bullosa Simplex Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex with Migratory Circinate Erythema from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa, Junctional Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa, Junctional from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa with pyloric atresia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa with pyloric atresia from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Dystrophica Neurotrophica Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Dystrophica Neurotrophica from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Simplex With Pyloric Atresia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex With Pyloric Atresia from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Pruriginosa Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Pruriginosa from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa, Junctional, Non-Herlitz Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa, Junctional, Non-Herlitz Type 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. |
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Simplex, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa simplex, Ogna type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa simplex, Ogna type from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa dystrophica, Pasini type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa dystrophica, Pasini type from the curated CTD Gene-Disease Associations dataset. |
Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysa bullosa simplex and limb girdle muscular dystrophy from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa simplex with mottled pigmentation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa simplex with mottled pigmentation from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa, lethal acantholytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa, lethal acantholytic from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis bullosa, pretibial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis bullosa, pretibial from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Dystrophica Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Dystrophica from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa from the curated CTD Gene-Disease Associations dataset. |
epidermolysis bullosa simplex Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease epidermolysis bullosa simplex from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
epidermolysis bullosa Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease epidermolysis bullosa from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
epidermolysis bullosa dystrophica Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease epidermolysis bullosa dystrophica from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
junctional epidermolysis bullosa Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease junctional epidermolysis bullosa from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
epidermolysis bullosa dystrophica Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epidermolysis bullosa dystrophica in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epidermolysis bullosa simplex Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epidermolysis bullosa simplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epidermolysis bullosa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epidermolysis bullosa acquisita Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease epidermolysis bullosa acquisita in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
junctional epidermolysis bullosa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease junctional epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
epidermolysis bullosa dystrophica Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epidermolysis bullosa dystrophica in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
eczema; epidermolysis bullosa dystrophica Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eczema; epidermolysis bullosa dystrophica in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epidermolysis bullosa; pruritus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epidermolysis bullosa; pruritus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epidermolysis bullosa simplex Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epidermolysis bullosa simplex in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dystrophic epidermolysis bullosa Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dystrophic epidermolysis bullosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bullosa Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term bullosa in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Epidermolysis Bullosa Simplex Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epidermolysis Bullosa Simplex phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epidermolysis Bullosa Acquisita Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epidermolysis Bullosa Acquisita phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epidermolysis Bullosa Dystrophica Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epidermolysis Bullosa Dystrophica phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Epidermolysis Bullosa Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epidermolysis Bullosa phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
epidermolysis bullosa dystrophica, ad Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa dystrophica, ad phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa dystrophica, ar Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa dystrophica, ar phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, junctional, non-herlitz type Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, junctional, non-herlitz type phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, nonspecific, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, nonspecific, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, junctional, with pyloric atresia Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, junctional, with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, weber-cockayne type Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, weber-cockayne type phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, koebner type Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, koebner type phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa pruriginosa Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa pruriginosa phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex-mp Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex-mp phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex with pyloric atresia Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex with pyloric atresia phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, sutosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, sutosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, lethal acantholytic Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, lethal acantholytic phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, pretibial Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, pretibial phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epidermolysis bullosa dystrophica, autosomal recessive, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epidermolysis bullosa dystrophica, autosomal recessive, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, generalized atrophic benign Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, generalized atrophic benign phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, ogna type Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, ogna type phenotype from the curated OMIM Gene-Disease Associations dataset. |
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, junctional, with pyloric stenosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, junctional, with pyloric stenosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermylysis bullosa simplex-mcr Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermylysis bullosa simplex-mcr phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy with epidermolysis bullosa simplex Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy with epidermolysis bullosa simplex phenotype from the curated OMIM Gene-Disease Associations dataset. |
nephropathy with pretibial epidermolysis bullosa and deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the nephropathy with pretibial epidermolysis bullosa and deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa, junctional, herlitz type Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, junctional, herlitz type phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa simplex, dowling-meara type Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, dowling-meara type phenotype from the curated OMIM Gene-Disease Associations dataset. |
epidermolysis bullosa of hands and feet Gene SetFrom OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa of hands and feet phenotype from the curated OMIM Gene-Disease Associations dataset. |
Edpidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Edpidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Concha Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Concha Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Junctional Epidermolysis Bullosa-Pyloric Atresia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nephropathy With Pretibial Epidermolysis Bullosa And Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult Junctional Epidermolysis Bullosa (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Junctional Epidermolysis Bullosa (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Junctional Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Junctional Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Junctional Epidermolysis Bullosa Mitis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Junctional Epidermolysis Bullosa Mitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Late-Onset Junctional Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Late-Onset Junctional Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acral Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acral Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Centripetalis Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Centripetalis Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dominant Dystrophic Epidermolysis Bullosa, Albopapular Type (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dominant Dystrophic Epidermolysis Bullosa, Albopapular Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Generalized Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Generalized Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Localized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Localized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inherited Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inherited Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autosomal Dominant Epidermolysis Bullosa Simplex Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Epidermolysis Bullosa Simplex in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Basal Epidermolysis Bullosa Simplex Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Basal Epidermolysis Bullosa Simplex in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Epidermolysis Bullosa Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Epidermolysis bullosa Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Epidermolysis bullosa from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Epidermolysis bullosa simplex from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Junctional epidermolysis bullosa Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Junctional epidermolysis bullosa from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Junctional epidermolysis bullosa with pyloric atresia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Junctional epidermolysis bullosa with pyloric atresia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Epidermolysis bullosa dystrophica Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Epidermolysis bullosa dystrophica from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Epidermolysis bullosa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Junctional epidermolysis bullosa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Junctional epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa dystrophica Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa dystrophica in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Recessive dystrophic epidermolysis bullosa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Recessive dystrophic epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex localized type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex localized type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa acquisita Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa acquisita in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex with mottled pigmentation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex with mottled pigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Junctional epidermolysis bullosa with pyloric atresia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Junctional epidermolysis bullosa with pyloric atresia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex Dowling-Meara type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex Dowling-Meara type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Junctional epidermolysis bullosa non-Herlitz type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Junctional epidermolysis bullosa non-Herlitz type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex generalized type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex generalized type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Junctional epidermolysis bullosa Herlitz type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Junctional epidermolysis bullosa Herlitz type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Pretibial dystrophic epidermolysis bullosa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pretibial dystrophic epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Myringitis bullosa hemorrhagica Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Myringitis bullosa hemorrhagica in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex with muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex with muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex Ogna type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Epidermolysis bullosa simplex Ogna type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant dystrophic epidermolysis bullosa Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant dystrophic epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Epidermolysis bullosa simplex Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa simplex phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Junctional epidermolysis bullosa gravis of Herlitz Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Junctional epidermolysis bullosa gravis of Herlitz phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Junctional epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Junctional epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lethal acantholytic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal acantholytic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Recessive dystrophic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Recessive dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolysis bullosa dystrophica Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa dystrophica phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Generalized dominant dystrophic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Generalized dominant dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dominant dystrophic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dominant dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Pretibial dystrophic epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pretibial dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolysis bullosa pruriginosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa pruriginosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolysis bullosa dystrophica inversa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa dystrophica inversa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Epidermolysis bullosa simplex due to plakophilin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Late-onset junctional epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Late-onset junctional epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
COL7A1-related epidermolysis bullosa Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the COL7A1-related epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |