| Name |
|---|
MRT28 Genemental retardation, non-syndromic, autosomal recessive, 28 |
MRT29 GeneMental retardation, autosomal recessive 29 |
MRT24 Genemental retardation, non-syndromic, autosomal recessive, 24 |
MRT23 Genemental retardation, non-syndromic, autosomal recessive, 23 |
MRT10 Genemental retardation, non-syndromic, autosomal recessive, 10 |
FMR1 Genefragile X mental retardation 1 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] |
FMR3 Genefragile X mental retardation associated 3 |
AMMECR1 GeneAlport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] |
FXR1 Genefragile X mental retardation, autosomal homolog 1 The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
FXR2 Genefragile X mental retardation, autosomal homolog 2 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008] |
HBHR Genealpha-thalassemia/mental retardation syndrome, type 1 |
MRT17 Genemental retardation, non-syndromic, autosomal recessive, 17 |
MRT16 GeneMental retardation, autosomal recessive 16 |
MRT11 Genemental retardation, non-syndromic, autosomal recessive, 11 |
MRT19 Genemental retardation, non-syndromic, autosomal recessive, 19 |
CVMRF Genecubitus valgus with mental retardation and unusual facies |
MRT8 Genemental retardation, non-syndromic, autosomal recessive, 8 |
AMMEC GeneAlport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |
MRT9 Genemental retardation, non-syndromic, autosomal recessive, 9 |
LOC100132797 Genefragile X mental retardation, autosomal homolog 1 pseudogene |
DEL11P13 GeneWilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
NUFIP2 Genenuclear fragile X mental retardation protein interacting protein 2 Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Mar 2025] |
NUFIP1 Genenuclear fragile X mental retardation protein interacting protein 1 This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012] |
MRT25 Genemental retardation, non-syndromic, autosomal recessive, 25 |
MRT4 Genemental retardation, non-syndromic, autosomal recessive, 4 |
APMR3 GeneAlopecia-mental retardation syndrome 3 |
APMR2 GeneAlopecia with mental retardation syndrome 2 |
APMR1 GeneAlopecia-mental retardation syndrome |
DELXQ21 GeneChoroideremia, deafness, and mental retardation |
CLN8 Geneceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017] |
MRT33 GeneMental retardation, autosomal recessive 33 |
MRT32 GeneMental retardation, autosomal recessive 32 |
MRT31 GeneMental retardation, autosomal recessive 31 |
MRT30 GeneMental retardation, autosomal recessive 30 |
MRT35 GeneMental retardation, autosomal recessive 35 |
MRT27 Genemental retardation, non-syndromic, autosomal recessive, 27 |
NUFIP1P Genenuclear fragile X mental retardation protein interacting protein 1 pseudogene |
MEHMO Genemental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome |
MMRFCGU GeneMicrocephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
MRXSMP GeneMartin-Probst deafness-mental retardation syndrome |
FRAXA Genefragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) |
CHMRQ GeneCerebellar hypoplasia, mental retardation, and quadrupedal locomotion |
GUST GeneGustavson mental retardation syndrome (with microcephaly, optic |
MRSD Genemental retardation-skeletal dysplasia |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
ANOP1 Geneanophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) |
FMR1NB Genefragile X mental retardation 1 neighbor Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MHW2 GeneMental health wellness 2 |
MHW1 GeneMental health wellness 1 |
Lubs X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lubs X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Lubs X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lubs X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
growth retardation with deafness and mental retardation due to igf1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia-Mental Retardation Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Alopecia-Mental Retardation Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type from the curated CTD Gene-Disease Associations dataset. |
BRACHYDACTYLY-MENTAL RETARDATION SYNDROME Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BRACHYDACTYLY-MENTAL RETARDATION SYNDROME from the curated CTD Gene-Disease Associations dataset. |
Birk-Barel Mental Retardation Dysmorphism Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Birk-Barel Mental Retardation Dysmorphism Syndrome from the curated CTD Gene-Disease Associations dataset. |
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset. |
Martin-Probst Deafness-Mental Retardation Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Martin-Probst Deafness-Mental Retardation Syndrome from the curated CTD Gene-Disease Associations dataset. |
mental retardation; rett syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; rett syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; fragile x syndromes; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; fragile x syndromes; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alpha-thalassemia/mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-thalassemia/mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alacrima, achalasia, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
waisman parkinsonism-mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the waisman parkinsonism-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
birk-barel mental retardation dysmorphism syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the birk-barel mental retardation dysmorphism syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
brachydactyly-mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the brachydactyly-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha-thalassemia/mental retardation syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-thalassemia/mental retardation syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alacrima, Achalasia, And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alacrima, Achalasia, And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Birk-Barel Mental Retardation Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Birk-Barel Mental Retardation Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Martin-Probst Deafness-Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Martin-Probst Deafness-Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
alopecia-mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia-mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia, mental retardation and dysequlibrium syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia, mental retardation and dysequlibrium syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alopecia-mental retardation syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia-mental retardation syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
fetal growth retardation; hellp syndrome; intrauterine growth retardation; pregnancy complications, hematologic; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; hellp syndrome; intrauterine growth retardation; pregnancy complications, hematologic; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; hellp syndrome; intrauterine growth retardation; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; hellp syndrome; intrauterine growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures 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. |
Mental retardation, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 30 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 29 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 39 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 38 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 34 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aniridia, cerebellar ataxia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 47 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 40 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 41 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 42 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 43 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 44 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 45 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 46 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset. |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Fra12a Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Fra12a Type from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 5 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 4 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Female-Restricted, with Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Female-Restricted, with Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 from the curated CTD Gene-Disease Associations dataset. |
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
Cleft Palate, Isolated, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Microcephaly with Mental Retardation and Digital Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Cubitus Valgus with Mental Retardation and Unusual Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
Parkinsonism, early onset with mental retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism, early onset with mental retardation from the curated CTD Gene-Disease Associations dataset. |
epilepsy; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
language development disorders; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease language development disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; muscular dystrophy, duchenne Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
violent offenders with mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease violent offenders with mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leukomalacia, periventricular; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leukomalacia, periventricular; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy and mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy and mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
learning disorders; memory disorders; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease learning disorders; memory disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; microcephaly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; microcephaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Mental Retardation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Retardation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Nuclear fragile X mental retardation-interacting protein 1, conserved domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear fragile X mental retardation-interacting protein 1, conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fragile X mental retardation protein family Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fragile X mental retardation protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 9/26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation with language impairment and autistic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation with language impairment and autistic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
?rolandic epilepsy, mental retardation, and speech dyspraxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?rolandic epilepsy, mental retardation, and speech dyspraxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 40 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 44 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 46 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset. |
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Gene SetFrom OMIM Gene-Disease Associations genes associated with the corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, truncal obesity, retinal dystrophy, and micropenis Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, truncal obesity, retinal dystrophy, and micropenis phenotype from the curated OMIM Gene-Disease Associations dataset. |
?arthrogryposis, mental retardation, and seizures Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?arthrogryposis, mental retardation, and seizures phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal dominant 22 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal dominant 22 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
choroideremia, deafness, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the choroideremia, deafness, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 10/20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 10/20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 45 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 42 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 43 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 39 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 38 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 33 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 35 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 34 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 36 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
scaphocephaly, maxillary retrusion, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the scaphocephaly, maxillary retrusion, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation-skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cubitus valgus with mental retardation and unusual facies Gene SetFrom OMIM Gene-Disease Associations genes associated with the cubitus valgus with mental retardation and unusual facies phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, nonprogressive, with mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, nonprogressive, with mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, with or without nystagmus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 41 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, focal, with speech disorder and with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal dominant 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal dominant 11 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. |
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant, 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant, 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, fra12a type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, fra12a type phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive, 37 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive, 37 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant, 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant, 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mild Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mild Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mandibulofacial Dysostosis With Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mandibulofacial Dysostosis With Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Profound Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Profound Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Deficiency And Mental Retardation With Facial Dysmorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Deficiency And Mental Retardation With Facial Dysmorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) Gene Setproteins participating in the Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Setproteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nonprogressive cerebellar ataxia with mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nonprogressive cerebellar ataxia with mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abortion, spontaneous; abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abortion, spontaneous; abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abortion, spontaneous; activated protein c resistance; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abortion, spontaneous; activated protein c resistance; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; intrauterine growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; intrauterine growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; intrauterine growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Growth mental deficiency syndrome of Myhre Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset. |
Hypoparathyroidism retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoparathyroidism-retardation-dysmorphism syndrome from the curated CTD Gene-Disease Associations dataset. |
fetal growth retardation; hellp syndrome; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; hellp syndrome; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoparathyroidism-retardation-dysmorphism syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypoparathyroidism-Retardation-Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease hypoparathyroidism-retardation-dysmorphism syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hypoparathyroidism-retardation-dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hypoparathyroidism-retardation-dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset. |
Aniridia cerebellar ataxia mental deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset. |
Mental Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Disorders from the curated CTD Gene-Disease Associations dataset. |
MENTAL HEALTH WELLNESS 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL HEALTH WELLNESS 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Disorders Diagnosed in Childhood Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Disorders Diagnosed in Childhood from the curated CTD Gene-Disease Associations dataset. |
MENTAL HEALTH WELLNESS 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL HEALTH WELLNESS 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Disorders Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Mental Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Mental Competency Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Mental Competency in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Mental Processes Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Mental Processes in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease developmental disorder of mental health from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
disease of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease disease of mental health from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
mental depression Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease mental depression in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease developmental disorder of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
disease of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease disease of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
mental depression Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mental depression in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alcohol-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alcohol-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
disease of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease disease of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease developmental disorder of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
drug-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease drug-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mental development Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental development in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
confusion; confusion (mental); dementia; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease confusion; confusion (mental); dementia; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental illness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental illness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental processes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental processes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental competency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental competency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term mental in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
mental depression Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease mental depression in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
drug-induced mental disorder Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease drug-induced mental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
alcohol-induced mental disorder Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease alcohol-induced mental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
developmental disorder of mental health Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease developmental disorder of mental health in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
disease of mental health Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease disease of mental health in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
mental deterioration Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the mental deterioration phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of higher mental function Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of higher mental function phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of higher mental function Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of higher mental function phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mental deterioration Gene SetFrom HPO Gene-Disease Associations genes associated with the mental deterioration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Mental Processes Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Processes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Disorders Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Competency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Competency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Health Services Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Health Services phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Fatigue Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Fatigue phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Health Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Health phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Community Mental Health Services Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Community Mental Health Services phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Recall Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Recall phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Status Schedule Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Status Schedule phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
MENTAL domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the MENTAL domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
{mental health wellness-1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {mental health wellness-1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{mental health wellness-2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {mental health wellness-2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mental Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Organic Mental Disorders, Substance-Induced Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Organic Mental Disorders, Substance-Induced in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Status Changes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Status Changes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Handicap Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Handicap in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Condensation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Condensation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Alcohol-Induced Mental Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Alcohol-Induced Mental Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Organic Mental Disorders, Psychotic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Organic Mental Disorders, Psychotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Deterioration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mental Deterioration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Palmo-Mental Reflex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Palmo-Mental Reflex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Mental State Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Mental State in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Taste Perception (Mental Process) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Taste Perception (Mental Process) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of Higher Mental Function Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Higher Mental Function in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal mental foramen morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal mental foramen morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent mental foramen Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent mental foramen phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Disease of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Disease of mental health from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental disorder of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental disorder of mental health from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Disease of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Disease of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental disorder of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Developmental disorder of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Disease of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Disease of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental disorder of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental disorder of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
drug-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease drug-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alcohol-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alcohol-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mental deterioration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mental deterioration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mental disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mental development (prenatal lead exposure interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental development (prenatal lead exposure interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mental health related quality of life Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental health related quality of life phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mental health study participation (provided email address) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental health study participation (provided email address) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mental health study participation (completed survey) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental health study participation (completed survey) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Abstraction and mental flexibility Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Abstraction and mental flexibility phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth retardation, developmental delay, coarse facies, and early death Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset. |
Fetal Growth Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fetal Growth Retardation from the curated CTD Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death from the curated CTD Gene-Disease Associations dataset. |
abruptio placentae; fetal growth retardation; pre-eclampsia; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal growth retardation; pre-eclampsia; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; placental insufficiency; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; placental insufficiency; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; fetal growth retardation; pregnancy complications, hematologic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; fetal growth retardation; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intrauterine growth retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intrauterine growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; periodontal diseases; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; periodontal diseases; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; pre-eclampsia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal growth retardation; insulin resistance Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal growth retardation; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; fetal growth retardation; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; fetal growth retardation; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
retardation Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term retardation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
mild postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the mild postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mild intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the mild intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe intrauterine growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe postnatal growth retardation Gene SetFrom HPO Gene-Disease Associations genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Fetal Growth Retardation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Fetal Growth Retardation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
prenatal growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the prenatal growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
fetal growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the fetal growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
growth retardation of incisors Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the growth retardation of incisors phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
growth retardation of molars Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the growth retardation of molars phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
postnatal growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the postnatal growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
embryonic growth retardation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the embryonic growth retardation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene SetFrom OMIM Gene-Disease Associations genes associated with the psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated OMIM Gene-Disease Associations dataset. |
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth retardation, developmental delay, coarse facies, and early death Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation, developmental delay, coarse facies, and early death phenotype from the curated OMIM Gene-Disease Associations dataset. |
Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Developmental Delay, Coarse Facies, And Early Death in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chorea, Childhood-Onset, With Psychomotor Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chorea, Childhood-Onset, With Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fetal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fetal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Motor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Motor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Intrauterine Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Intrauterine Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mild Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Psychomotor Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Psychomotor Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Moderate Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Moderate Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Postnatal Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Postnatal Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Severe Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Severe Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mild Intrauterine Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Intrauterine Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Growth Retardation, Pre- And Postnatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Growth Retardation, Pre- And Postnatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Growth Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Growth Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
embryonic growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the embryonic growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
postnatal growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the postnatal growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
fetal growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the fetal growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
growth retardation of molars Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the growth retardation of molars phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
growth retardation of incisors Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the growth retardation of incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
prenatal growth retardation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the prenatal growth retardation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
embryonic growth retardation Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the embryonic growth retardation phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Cerebellar atrophy, visual impairment, and psychomotor retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar atrophy, visual impairment, and psychomotor retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Infantile hypotonia with psychomotor retardation and characteristic facies-3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Infantile hypotonia with psychomotor retardation and characteristic facies-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Psychomotor retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Psychomotor retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Postnatal growth retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Postnatal growth retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intrauterine growth retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intrauterine growth retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Growth retardation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Growth retardation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lynch syndrome:Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome:Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IFAP syndrome with or without BRESHECK syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset. |
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset. |
menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cornelia de lange syndrome; de lange syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
behcet syndrome; uveomeningoencephalitic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease behcet syndrome; uveomeningoencephalitic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
melas syndrome; merrf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease melas syndrome; merrf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
angelman syndrome; rett syndrome; seizures Gene SetFrom GAD Gene-Disease Associations genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
metabolic syndrome ; metabolic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease metabolic syndrome ; metabolic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
digeorge syndrome; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; ehlers-danlos syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; felty's syndrome; large granular lymphocyte syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene SetFrom GAD Gene-Disease Associations genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart-hand syndrome, holt-oram syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
digeorge syndrome/velocardiofacial syndrome complex-2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ifap syndrome with or without bresheck syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Crouzon syndrome-acanthosis nigricans syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Noonan syndrome and Noonan-related syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Crouzon syndrome-acanthosis nigricans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
visceral fat deposits and the metabolic syndrome Gene SetFrom Biocarta Pathways proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset. |
Branchiootic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 3, with hypocalciuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sjögren-Larsson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hennekam lymphangiectasia-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UV-sensitive syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Foveal hypoplasia and presenile cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Char syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fragile X syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Shwachman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Greig cephalopolysyndactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Fraser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marfan's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Melnick-Needles syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiootorenal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PTEN hamartoma tumor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lesch-Nyhan syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculofaciocardiodental syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow Sorauf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
17q2131 microdeletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Desbuquois syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly/autism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mohr-Tranebjaerg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osteopenic nonfracture syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Barakat syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Raine syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digitorenocerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alstrom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinism-hyperammonemia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal multiple pterygium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MORM syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Upshaw-Schulman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Martsolf syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1D 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. |
Usher syndrome, type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 2q32-q33 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Blepharophimosis-ptosis-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Borrone Di Rocco Crovato syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hurler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Angelman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lig4 syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hajdu-Cheney syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperferritinemia cataract syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy preaxial brachydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bannayan-Riley-Ruvalcaba syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chudley-McCullough syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Poretti-boltshauser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bosch-boonstra-schaaf optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frank Ter Haar syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Androgen resistance syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holt-Oram syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Young Simpson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Frasier syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meier-Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pili torti-deafness syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gorlin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bernard-Soulier syndrome, type A2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Duane-radial ray syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
22q133 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutis laxa-corneal clouding-oligophrenia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial anomalies and anterior segment dysgenesis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
TNF receptor-associated periodic fever syndrome (TRAPS) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Steel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome 1q43-q44 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Roberts-SC phocomelia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bloom syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McLeod neuroacanthocytosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebrooculofacioskeletal syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nicolaides-Baraitser syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nager syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chédiak-Higashi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kindler's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnevale syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kenny syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rienhoff syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weaver syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kohlschutter's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebro-oculo-facio-skeletal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypotrichosis-lymphedema-telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEOPARD syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Treacher collins syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wiskott-Aldrich syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyper-IgE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tourette Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, macrosomia, facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome antenatal type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamstorp-Wohlfart syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Turcot syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyaline fibromatosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rigidity and multifocal seizure syndrome, lethal neonatal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alopecia, neurologic defects, and endocrinopathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Weill-Marchesani-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Netherton syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome, type 4b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Feingold syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knuckle pads, deafness AND leukonychia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Waardenburg syndrome type 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Richieri Costa Pereira syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune lymphoproliferative syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bartter syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Costello syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ochoa syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bruck syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Achalasia-alacrima syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cryptophthalmos syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nijmegen breakage syndrome-like disorder Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brugada syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ovarian hyperstimulation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Otofaciocervical syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kaufman oculocerebrofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branchiooculofacial syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Karak syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Long QT syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky Pudlak syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tarsal carpal coalition syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jankovic Rivera syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nakajo syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chromosome Xq28 deletion syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fanconi-Bickel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Smith-Lemli-Opitz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Von Hippel-Lindau syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Usher syndrome, type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome progeroid type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Larsen syndrome, dominant type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Temtamy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenomatous polyposis coli:Gardner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jervell and Lange-Nielsen syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leprechaunism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Simpson-Golabi-Behmel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Simpson-Golabi-Behmel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
XFE progeroid syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dysequilibrium syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atypical hemolytic-uremic syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Johanson-Blizzard syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GRACILE syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kowarski syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ADULT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel-Gruber syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neutrophil immunodeficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coffin-Lowry syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Auriculocondylar syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, hydroxylysine-deficient Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pierson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pfeiffer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tricho-dento-osseous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mowat-Wilson syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jensen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Werner syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aarskog syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enamel-renal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple synostoses syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Popliteal pterygium syndrome lethal type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Keutel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Segawa syndrome, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple pterygium syndrome Escobar type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pitt-Hopkins-like syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Klippel-Feil syndrome 2, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stiff skin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lenz microphthalmia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lenz microphthalmia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall/Stickler syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Schwartz Jampel syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Grebe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Saethre-Chotzen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Floating-Harbor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Warburg micro syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hermansky-Pudlak syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Osler hemorrhagic telangiectasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wieacker syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki make-up syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cohen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oligodontia-colorectal cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Filippi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primrose syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Perrault syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marshall-Smith syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brittle cornea syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rotor syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oral-facial-digital syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acrocallosal syndrome, Schinzel type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gray platelet syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mast syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Amish infantile epilepsy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meacham syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stormorken syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Opitz-Frias syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardio-facio-cutaneous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kallmann syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yunis Varon syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cowden syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mulibrey nanism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, idiopathic, steroid-resistant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes-Brocks-branchiootorenal-like syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SeSAME syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Odontotrichomelic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrioventricular septal defect, partial, with heterotaxy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Meckel syndrome, type 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile liver failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lowe syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, type 7B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos syndrome, musculocontractural type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Robinow syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone marrow failure syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Orofaciodigital syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Distichiasis-lymphedema syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Townes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-Laxova syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Winchester syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Unverricht-Lundborg syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Verheij syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rapp-Hodgkin ectodermal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Allan-Herndon-Dudley syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arterial tortuosity syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Juvenile polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Papillon-Lefèvre syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brown-vialetto-van laere syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, epilepsy, and diabetes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peters plus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulnar-mammary syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Zunich neuroectodermal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beckwith-Wiedemann syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van Maldergem Wetzburger Verloes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sotos' syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyggve-Melchior-Clausen syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Baraitser-Winter Syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Three M syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Howel-Evans syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Senior-Loken syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rhabdoid tumor predisposition syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tatton-Brown-rahman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
COACH syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enhanced s-cone syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acquired long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Van der Woude syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sudden infant death syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dursun syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carpenter syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Li-Fraumeni syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Haim-Munk syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Knobloch syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbohydrate-deficient glycoprotein syndrome type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Advanced sleep phase syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Jarcho-Levin syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bardet-Biedl syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cornelia de Lange syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cornelia de Lange syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive Dejerine-Sottas syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kabuki syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hay-Wells syndrome of ectodermal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Reynolds syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Reynolds syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Joubert syndrome 12/15, digenic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Serkal syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Marinesco-Sjögren syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Seckel syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neu-laxova syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urofacial syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gordon's syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arts syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Noonan syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
McKusick Kaufman syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the McKusick Kaufman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoimmune polyglandular syndrome type 1, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rubinstein-Taybi syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
FG syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Loeys-Dietz syndrome, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Stickler syndrome type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Stickler syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |