Name

PAURT1 Gene

Preauricular tag, isolated, autosomal dominant, 1

NDIC Gene

Nail dysplasia, isolated congenital

ANIC Gene

Anosmia, isolated congenital

LVNC2 Gene

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

NKCD Gene

Natural killer cell deficiency, familial isolated

MCOPCT1 Gene

cataract, congenital, with microphthalmia

MITF Gene

microphthalmia-associated transcription factor

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]

CPBHM Gene

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

MAA Gene

microphthalmia or anophthalmia and associated anomalies

MCOP1 Gene

microphthalmia, autosomal recessive

MCOPCB1 Gene

Microphthalmia, colobomatous, 1

MCOPCB2 Gene

Microphthalmia, colobomatous, 2

Microphthalmia, isolated 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

microphthalmia, isolated 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

Microphthalmia, isolated 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated, with coloboma 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated, with coloboma 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated, with coloboma 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated, with coloboma 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, isolated, with coloboma 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, isolated, with coloboma 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MICROPHTHALMIA, ISOLATED 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROPHTHALMIA, ISOLATED 5 from the curated CTD Gene-Disease Associations dataset.

MICROPHTHALMIA, ISOLATED 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROPHTHALMIA, ISOLATED 7 from the curated CTD Gene-Disease Associations dataset.

MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Coloboma 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 2 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Coloboma 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 5 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated 1 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated 3 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated 4 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated 2 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Cataract 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Cataract 2 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Cataract 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Cataract 1 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Coloboma 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 3 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Isolated, with Coloboma 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Isolated, with Coloboma 1 from the curated CTD Gene-Disease Associations dataset.

microphthalmia, isolated 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated, with coloboma 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated, with coloboma 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated, with coloboma 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated, with coloboma 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, isolated, with coloboma 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, isolated, with coloboma 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

Isolated microphthalmia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated microphthalmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated microphthalmia 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated microphthalmia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated microphthalmia 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated microphthalmia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated microphthalmia 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated microphthalmia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated microphthalmia 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated microphthalmia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated microphthalmia 6 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated microphthalmia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated microphthalmia 8 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated microphthalmia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated microphthalmia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated anophthalmia-microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated anophthalmia-microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microphthalmia syndromic 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia syndromic 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia syndromic 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia syndromic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia syndromic 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia syndromic 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, microphthalmia and nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lenz microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, syndromic, 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, syndromic, 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, syndromic 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, syndromic 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, syndromic 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microphthalmia, syndromic 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microphthalmia, syndromic 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, syndromic 2 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, syndromic 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, syndromic 1 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, syndromic 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, syndromic 7 from the curated CTD Gene-Disease Associations dataset.

Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Syndromic 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Syndromic 5 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Syndromic 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Syndromic 4 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Syndromic 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Syndromic 6 from the curated CTD Gene-Disease Associations dataset.

Microphthalmia, Syndromic 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microphthalmia, Syndromic 3 from the curated CTD Gene-Disease Associations dataset.

Cataract, congenital, with microcornea or slight microphthalmia Gene Set

From 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.

microphthalmia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease microphthalmia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

microphthalmia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease microphthalmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

microphthalmia ; coloboma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease microphthalmia ; coloboma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

microphthalmia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease microphthalmia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

microphthalmia Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term microphthalmia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

microphthalmia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the microphthalmia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

posterior microphthalmia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the posterior microphthalmia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

?microphthalmia, syndromic 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microphthalmia, syndromic 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with limb anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with limb anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

?microphthalmia, syndromic 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microphthalmia, syndromic 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 6, digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 6, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia, syndromic 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia, syndromic 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Gene Set

From OMIM Gene-Disease Associations

genes associated with the chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with coloboma 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with coloboma 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with cataract 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with cataract 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

microphthalmia with cataract 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microphthalmia with cataract 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

Microphthalmia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microphthalmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Arhinia, Choanal Atresia, And Microphthalmia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Arhinia, Choanal Atresia, And Microphthalmia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Syndromic Microphthalmia Type 5 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Syndromic Microphthalmia Type 5 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microphthalmia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Microphthalmia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

microphthalmia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the microphthalmia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

posterior microphthalmia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the posterior microphthalmia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

microphthalmia Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the microphthalmia phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Microphthalmia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Microphthalmia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Syndromic microphthalmia 3 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Syndromic microphthalmia 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Syndromic microphthalmia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Syndromic microphthalmia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Syndromic microphthalmia 2 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Syndromic microphthalmia 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Microphthalmia with limb anomalies Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Microphthalmia with limb anomalies from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Microphthalmia with limb anomalies Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Microphthalmia with limb anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Microphthalmia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Microphthalmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 9 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 6 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 12 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 10 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 13 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 8 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Syndromic microphthalmia 14 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Syndromic microphthalmia 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Microphthalmia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Anophthalmia/microphthalmia-esophageal atresia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Anophthalmia/microphthalmia-esophageal atresia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

VSX2-related Microphthalmia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the VSX2-related Microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Anophthalmia-microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Anophthalmia-microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

OTX2-Related Syndromic Microphthalmia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the OTX2-Related Syndromic Microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic microphthalmia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

BMP4-Related Syndromic Microphthalmia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the BMP4-Related Syndromic Microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Colobomatous microphthalmia-rhizomelic dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Colobomatous microphthalmia-rhizomelic dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectopia lentis, isolated autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectopia lentis, isolated autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Laron-type isolated somatotropin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Laron-type isolated somatotropin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperchlorhidrosis, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperchlorhidrosis, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Digital clubbing, isolated congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Question mark ears, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Question mark ears, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectopia lentis, isolated, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectopia lentis, isolated, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

H2AX complex, isolated from cells without IR exposure Gene Set

From CORUM Protein Complexes

proteins in the H2AX complex, isolated from cells without IR exposure protein complex from the CORUM Protein Complexes dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Hypoparathyroidism familial isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypoparathyroidism familial isolated from the curated CTD Gene-Disease Associations dataset.

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4 from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset.

Toenail Dystrophy, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toenail Dystrophy, Isolated from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Hemihyperplasia, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hemihyperplasia, Isolated from the curated CTD Gene-Disease Associations dataset.

HYPERCHLORHIDROSIS, ISOLATED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERCHLORHIDROSIS, ISOLATED from the curated CTD Gene-Disease Associations dataset.

ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Invasive Pneumococcal Disease, Recurrent Isolated, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Invasive Pneumococcal Disease, Recurrent Isolated, 2 from the curated CTD Gene-Disease Associations dataset.

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset.

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5 from the curated CTD Gene-Disease Associations dataset.

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset.

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 from the curated CTD Gene-Disease Associations dataset.

Nail dysplasia, isolated congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset.

Cleft Palate, Isolated, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Invasive Pneumococcal Disease, Recurrent Isolated, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Invasive Pneumococcal Disease, Recurrent Isolated, 1 from the curated CTD Gene-Disease Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset.

isolated colobomas or colobomas associated Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated colobomas or colobomas associated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypothyroidism; cleft palate, isolated; thyroid agenesis Gene Set

From 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.

cleft lip with or without cleft palate; cleft palate, isolated Gene Set

From 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.

isolated gh deficiency (ighd) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated gh deficiency (ighd) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene Set

From 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.

isolated penile hypospadias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated penile hypospadias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term isolated in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ataxia with isolated vitamin e deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ataxia with isolated vitamin e deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

ectopia lentis, isolated, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectopia lentis, isolated, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

agammaglobulinemia and isolated hormone deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the agammaglobulinemia and isolated hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with isolated growth hormone deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with isolated growth hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

toenail dystrophy, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the toenail dystrophy, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

preauricular tag, isolated, autosomal dominant, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the preauricular tag, isolated, autosomal dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

asplenia, isolated congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the asplenia, isolated congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

giant platelet disorder, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the giant platelet disorder, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, familial isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoparathyroidism, familial isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

17,20-lyase deficiency, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the 17,20-lyase deficiency, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

cleft palate, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleft palate, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

myelokathexis, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the myelokathexis, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

growth hormone deficiency, isolated, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth hormone deficiency, isolated, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

growth hormone deficiency, isolated, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth hormone deficiency, isolated, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

growth hormone deficiency, isolated, type ib Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth hormone deficiency, isolated, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.

renal hypoplasia, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal hypoplasia, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

follicle-stimulating hormone deficiency, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the follicle-stimulating hormone deficiency, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

invasive pneumococcal disease, recurrent isolated, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the invasive pneumococcal disease, recurrent isolated, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

invasive pneumococcal disease, recurrent isolated, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the invasive pneumococcal disease, recurrent isolated, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperchlorhidrosis, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperchlorhidrosis, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

digital clubbing, isolated congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the digital clubbing, isolated congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

question mark ears, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the question mark ears, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

anosmia, isolated congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the anosmia, isolated congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

Scoliosis, Isolated, Susceptibility To, 3 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Scoliosis, Isolated, Susceptibility To, 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Systolic Hypertension Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Systolic Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Somatotropin Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Somatotropin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemihyperplasia, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemihyperplasia, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Cystinuria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Cystinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Melorheostosis, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Melorheostosis, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Polycystic Liver Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Polycystic Liver Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Thrombocytopenia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Thrombocytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Clinically Isolated Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Clinically Isolated Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Cervical Dystonia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Cervical Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Atp Synthase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Hypoplasia Of The Right Ventricle Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Hypoplasia Of The Right Ventricle in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Follicle-Stimulating Hormone Deficiency, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Follicle-Stimulating Hormone Deficiency, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Isolated Hyperparathyroidism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Isolated Hyperparathyroidism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Radiologically Isolated Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Radiologically Isolated Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acth Deficiency, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acth Deficiency, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Toenail Dystrophy, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Toenail Dystrophy, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Deficiency Of Pituitary Hormone Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Deficiency Of Pituitary Hormone in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Gonadotropin Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Gonadotropin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Growh Hormone Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Growh Hormone Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Growth Hormone Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Lutropin Deficiency (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Lutropin Deficiency (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Myelokathexis, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Myelokathexis, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

17,20-Lyase Deficiency, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 17,20-Lyase Deficiency, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Noncompaction Of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Noncompaction Of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Question Mark Ears, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Question Mark Ears, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Isolated Trichomegaly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Isolated Trichomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cryptophthalmos, Unilateral Or Bilateral, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cryptophthalmos, Unilateral Or Bilateral, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Cryptophthalmos Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Cryptophthalmos in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Invasive Pneumococcal Disease, Recurrent Isolated, 2 (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Invasive Pneumococcal Disease, Recurrent Isolated, 2 (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Invasive Pneumococcal Disease, Recurrent Isolated, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Invasive Pneumococcal Disease, Recurrent Isolated, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anhidrosis, Isolated, With Normal Sweat Glands Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anhidrosis, Isolated, With Normal Sweat Glands in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Bone Marrow Mastocytosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Bone Marrow Mastocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dermatofibrosis Lenticularis Disseminata, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dermatofibrosis Lenticularis Disseminata, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteopoikilosis, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteopoikilosis, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Rare Isolated Myopia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Rare Isolated Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Natural Killer Cell Deficiency, Familial Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Natural Killer Cell Deficiency, Familial Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Aortic Stenosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Aortic Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Atrial Amyloid Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Atrial Amyloid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Blepharospasm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Blepharospasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Foveal Hypoplasia, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Foveal Hypoplasia, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Caroli Disease Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Caroli Disease Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Isolated Thyroid Stimulating Hormone Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Isolated Thyroid Stimulating Hormone Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Late-Onset Isolated Adrenocorticotropic Hormone Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Late-Onset Isolated Adrenocorticotropic Hormone Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Focal Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Focal Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thyrotropin Deficiency, Isolated Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyrotropin Deficiency, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Isolated Cases Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Isolated Cases in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Isolated Hyperchlorhidrosis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Isolated Hyperchlorhidrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Isolated Asymptomatic Elevation Of Creatine Phosphokinase Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Isolated Asymptomatic Elevation Of Creatine Phosphokinase in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Prolactin Deficiency, Isolated Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Prolactin Deficiency, Isolated in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Isolated sulfite oxidase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Isolated sulfite oxidase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Familial isolated deficiency of vitamin E Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Familial isolated deficiency of vitamin E from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Isolated growth hormone deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Isolated growth hormone deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Isolated hyperchlorhidrosis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Isolated hyperchlorhidrosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Isolated elevated serum creatine phosphokinase levels Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Isolated elevated serum creatine phosphokinase levels from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Isolated ectopia lentis Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Isolated ectopia lentis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Isolated hyperchlorhidrosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated hyperchlorhidrosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial isolated hypoparathyroidism Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Familial isolated hypoparathyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated growth hormone deficiency type IA Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated growth hormone deficiency type IA in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated growth hormone deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated growth hormone deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial isolated deficiency of vitamin E Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Familial isolated deficiency of vitamin E in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated ectopia lentis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated ectopia lentis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated growth hormone deficiency type IB Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated growth hormone deficiency type IB in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial isolated trichomegaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Familial isolated trichomegaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated sulfite oxidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated sulfite oxidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated cleft palate Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated cleft palate in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated growth hormone deficiency type II Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated growth hormone deficiency type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated elevated serum creatine phosphokinase levels Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated elevated serum creatine phosphokinase levels in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated mitochondrial myopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated anhidrosis with normal sweat glands Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated anhidrosis with normal sweat glands in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated cryptophthalmia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated cryptophthalmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated growth hormone deficiency type III Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated growth hormone deficiency type III in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive isolated ectopia lentis 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal recessive isolated ectopia lentis 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant isolated ectopia lentis 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant isolated ectopia lentis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Familial isolated arrhythmogenic right ventricular dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial isolated arrhythmogenic right ventricular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated optic nerve hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated optic nerve hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated focal cortical dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated focal cortical dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital isolated adrenocorticotropic hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital isolated adrenocorticotropic hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated congenital digital clubbing Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated congenital digital clubbing phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial isolated deficiency of vitamin Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial isolated deficiency of vitamin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial isolated dilated cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial isolated dilated cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated thyroid-stimulating hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated thyroid-stimulating hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated lutropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated lutropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated congenital hypogonadotropic hypogonadism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated congenital hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated GnRH Deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated GnRH Deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated thoracic aortic aneurysm Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated thoracic aortic aneurysm phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated cleft palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial isolated pituitary adenoma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial isolated pituitary adenoma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated Nonsyndromic Congenital Heart disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated Nonsyndromic Congenital Heart disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated systolic hypertension Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated systolic hypertension phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated Coronal Synostosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated Coronal Synostosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated neonatal sclerosing cholangitis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated neonatal sclerosing cholangitis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated focal non-epidermolytic palmoplantar keratoderma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated focal non-epidermolytic palmoplantar keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated cryptophthalmia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated cryptophthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated Noncompaction of the Ventricular Myocardium Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated Noncompaction of the Ventricular Myocardium phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated Pierre-Robin syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated Pierre-Robin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated Hyperparathyroidism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated Hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated congenital growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated congenital growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial isolated congenital asplenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial isolated congenital asplenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated macular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated macular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated agenesis of gallbladder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated agenesis of gallbladder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated hereditary giant platelet disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated hereditary giant platelet disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial isolated hyperparathyroidism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial isolated hyperparathyroidism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated anhidrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated anhidrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated hyperchlorhidrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated hyperchlorhidrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated ectopia lentis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated ectopia lentis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated sedoheptulokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated sedoheptulokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rare isolated myopia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rare isolated myopia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.