Name

BHD Gene

Beukes familial hip dysplasia

OS4 Gene

Osteoarthritis, generalized, without dysplasia, susceptibility to

ASDP Gene

anal sphincter dysplasia

ECTD5 Gene

Ectodermal dysplasia 5, hair/nail type

ECTD7 Gene

Ectodermal dysplasia 7, hair/nail type

ECTD6 Gene

Ectodermal dysplasia 6, hair/nail type

ACD Gene

adrenocortical dysplasia homolog (mouse)

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

SPDT Gene

Spondyloepiphyseal dysplasia tarda, autosomal dominant

ACTD Gene

Acetabular dysplasia

ARVD4 Gene

arrhythmogenic right ventricular dysplasia 4

ARVD6 Gene

arrhythmogenic right ventricular dysplasia 6

ARVD3 Gene

arrhythmogenic right ventricular dysplasia 3

MMEDF Gene

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

DDH2 Gene

Developmental dysplasia of the hip 2

ECTD8 Gene

Ectodermal dysplasia 8, hair/tooth/nail type

NDIC Gene

Nail dysplasia, isolated congenital

EDSS2 Gene

Ectodermal dysplasia-syndactyly syndrome 2

PRD Gene

primary retinal dysplasia

ACRPV Gene

Acropectorovertebral dysplasia (F syndrome)

ATD Gene

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

ODPF Gene

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

MRSD Gene

mental retardation-skeletal dysplasia

TKCR Gene

torticollis, keloids, cryptorchidism and renal dysplasia

MMDK Gene

Mesomelic dysplasia, Kantaputra type

OTDD Gene

Otodental dysplasia chromosome deletion syndrome

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

ALPL Gene

alkaline phosphatase, liver/bone/kidney

This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]

ANBC Gene

Aneurysmal bone cysts

SHFLD3 Gene

Split-hand/foot malformation with long bone deficiency 3

BMND8 Gene

bone mineral density quantiative trait locus 8

BMND9 Gene

Bone mineral density QTL 9

BMND6 Gene

Bone mineral density QTL 6

BMND5 Gene

Bone mineral density variation QTL 5

BMND2 Gene

Bone mineral density variation 2

BMND3 Gene

Bone mineral density variability 3

BSZQTL Gene

Bone size QTL

BRKS1 Gene

Telopeptide lysyl hydroxylase, bone-specific

PDB6 Gene

Paget disease of bone 6

PDB4 Gene

Paget disease of bone 4

PDB5 Gene

Paget disease of bone 5

PDB1 Gene

Paget disease of bone 1

PRG2 Gene

proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)

The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

BMP7 Gene

bone morphogenetic protein 7

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone, kidney and brown adipose tissue development. Additionally, this protein induces ectopic bone formation and may promote fracture healing in human patients. [provided by RefSeq, Jul 2016]

BMP6 Gene

bone morphogenetic protein 6

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]

BMP5 Gene

bone morphogenetic protein 5

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]

BMP4 Gene

bone morphogenetic protein 4

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

BMP3 Gene

bone morphogenetic protein 3

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]

BMP2 Gene

bone morphogenetic protein 2

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]

BMP1 Gene

bone morphogenetic protein 1

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]

SHFL1 Gene

Split-hand/foot malformation with long bone deficiency 1

BRINP3 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 3

This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

BRINP2 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 2

Predicted to be involved in cellular response to retinoic acid; central nervous system neuron differentiation; and negative regulation of mitotic cell cycle. Predicted to act upstream of or within locomotion and nervous system development. Predicted to be located in extracellular region. Predicted to be active in cytoplasm; dendrite; and neuronal cell body. Implicated in oral squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

BRINP1 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 1

This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]

BMND10 Gene

Bone mineral density QTL 10

BMND11 Gene

Bone mineral density QTL 11

BMND13 Gene

Bone mineral density QTL 13

BMND14 Gene

Bone mineral density QTL 14

BSZQTL3 Gene

Bone size quantitative trait locus 3

BSZQTL2 Gene

Bone size QTL

BMP8A Gene

bone morphogenetic protein 8a

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]

BMP8B Gene

bone morphogenetic protein 8b

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]

BGLAP Gene

bone gamma-carboxyglutamate (gla) protein

This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]

BMND7 Gene

bone mineral density quantiative trait locus 7

BMND4 Gene

Bone mineral density variation QTL 4

BMPR1APS1 Gene

bone morphogenetic protein receptor, type IA pseudogene 1

BMPR1APS2 Gene

bone morphogenetic protein receptor, type IA pseudogene 2

BMPR2 Gene

bone morphogenetic protein receptor, type II (serine/threonine kinase)

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]

BST1 Gene

bone marrow stromal cell antigen 1

Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]

BST2 Gene

bone marrow stromal cell antigen 2

Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]

BMP10 Gene

bone morphogenetic protein 10

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]

BMP15 Gene

bone morphogenetic protein 15

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate subunits of a disulfide-linked homodimer, or alternatively, a heterodimer, with the related protein, growth differentiation factor 9 (GDF9). This protein plays a role in oocyte maturation and follicular development, through activation of granulosa cells. Defects in this gene are the cause of ovarian dysgenesis and are associated with premature ovarian failure. [provided by RefSeq, Aug 2016]

BMP6P1 Gene

bone morphogenetic protein 6 pseudogene 1

BMPR1A Gene

bone morphogenetic protein receptor, type IA

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]

BMPR1B Gene

bone morphogenetic protein receptor, type IB

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

BMNCR Gene

bone marrow associated non-coding RNA

diastrophic dysplasia, broad bone-platyspondylic variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset.

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diastrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diastrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diastrophic dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Diastrophic dysplasia from the curated CTD Gene-Disease Associations dataset.

diastrophic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

diastrophic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

diastrophic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the diastrophic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Diastrophic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Diastrophic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Diastrophic dysplasia Gene Set

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

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

Diastrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

strudwick variant of spondyloepimetaphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease strudwick variant of spondyloepimetaphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

broad nasal bone Gene Set

From MPO Gene-Phenotype Associations

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

Broad Long Bone Diaphyses Gene Set

From DisGeNET Gene-Disease Associations

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

broad supraoccipital bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad nasal bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad occipital bone Gene Set

From MGI Mouse Phenotype Associations 2023

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

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene Set

From 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.

Gracile bone dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gracile bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrous Dysplasia of Bone Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia of Bone from the curated CTD Gene-Disease Associations dataset.

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease sost-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease sost-related sclerosing bone dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Fibrous Dysplasia of Bone Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibrous Dysplasia of Bone phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

bent bone dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the bent bone dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

gracile bone dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the gracile bone dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Bone Marrow Myeloid Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bone Marrow Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Gracile Bone Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bent Bone Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Bent Bone Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrocartilaginous Dysplasia Of Bone Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrocystic Dysplasia Of Bone Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrous Dysplasia Of Bone With Intramuscular Myxoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fibrous Dysplasia Of Bone With Intramuscular Myxoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bent Bone Dysplasia Group Gene Set

From DisGeNET Gene-Disease Associations

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

SOST-related sclerosing bone dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease SOST-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

SOST-related sclerosing bone dysplasia Gene Set

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

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

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lethal osteosclerotic bone dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lethal osteosclerotic bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Craniometadiaphyseal dysplasia wormian bone Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Craniometadiaphyseal dysplasia wormian bone phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Distinct bent bone dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Distinct bent bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

bone resorption; fractures, bone Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone resorption; fractures, bone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone density; bone responsiveness Gene Set

From GAD Gene-Disease Associations

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

acute lymphocytic leukemia; bone marrow diseases; bone necrosis; edema; osteonecrosis; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lymphocytic leukemia; bone marrow diseases; bone necrosis; edema; osteonecrosis; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

low bone-mineral density and rapid postmenopausal bone loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease low bone-mineral density and rapid postmenopausal bone loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2015 dataset.

bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2015

genes participating in the bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2023 dataset.

bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2023

genes participating in the bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2023 dataset.

abnormal bone mineralization involved in bone maturation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bone mineralization involved in bone maturation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

negative regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2025 dataset.

bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2025

genes participating in the bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of bone mineralization involved in bone maturation Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of bone mineralization involved in bone maturation biological process from the curated GO Biological Process Annotations 2025 dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonic aciduria, cblD type, variant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonic aciduria, cblD type, variant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphyria, acute intermittent, nonerythroid variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphyria, acute intermittent, nonerythroid variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gm2-gangliosidosis, variant b1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gm2-gangliosidosis, variant b1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria, cblD type, variant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria, cblD type, variant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa, junctional, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa, junctional, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tay-Sachs disease, B1 variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tay-Sachs disease, B1 variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Xeroderma pigmentosum, variant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Xeroderma pigmentosum, variant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia-telangiectasia variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia-telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotopia, periventricular, Ehlers-Danlos variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Heterotopia, periventricular, Ehlers-Danlos variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tay-Sachs disease, variant AB Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tay-Sachs disease, variant AB phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oligosaccharyltransferase complex (Stt3A variant) Gene Set

From CORUM Protein Complexes

proteins in the Oligosaccharyltransferase complex (Stt3A variant) protein complex from the CORUM Protein Complexes dataset.

Oligosaccharyltransferase complex (Stt3B variant) Gene Set

From CORUM Protein Complexes

proteins in the Oligosaccharyltransferase complex (Stt3B variant) protein complex from the CORUM Protein Complexes dataset.

CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant) Gene Set

From CORUM Protein Complexes

proteins in the CD147-gamma-secretase complex (APH-1a, PS-1, PEN-2, NCT variant) protein complex from the CORUM Protein Complexes dataset.

Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) Gene Set

From CORUM Protein Complexes

proteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) protein complex from the CORUM Protein Complexes dataset.

Tay-Sachs Disease, AB Variant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tay-Sachs Disease, AB Variant from the curated CTD Gene-Disease Associations dataset.

Prinzmetal's variant angina Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prinzmetal's variant angina from the curated CTD Gene-Disease Associations dataset.

Vohwinkel Syndrome, Variant Form Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vohwinkel Syndrome, Variant Form from the curated CTD Gene-Disease Associations dataset.

Heterotopia, Periventricular, Ehlers-Danlos Variant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, Ehlers-Danlos Variant from the curated CTD Gene-Disease Associations dataset.

Carney Complex Variant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carney Complex Variant from the curated CTD Gene-Disease Associations dataset.

Xeroderma pigmentosum, variant type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Xeroderma pigmentosum, variant type from the curated CTD Gene-Disease Associations dataset.

RETT SYNDROME, CONGENITAL VARIANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset.

eosinophilic variant of chromophobe renal cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease eosinophilic variant of chromophobe renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cough variant asthma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

variant creutzfeldt-jakob disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

tall cell variant papillary carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease tall cell variant papillary carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

angina pectoris, variant Gene Set

From GAD Gene-Disease Associations

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

angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cockayne syndrome or the desanctis-cacchione variant of xeroderma pigmentosum Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cockayne syndrome or the desanctis-cacchione variant of xeroderma pigmentosum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variant late infantile neuronal ceroid lipofuscinosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variant Gene Set

From GeneRIF Biological Term Annotations

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

variant MCH Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the variant MCH ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Creutzfeldt-Jakob disease (variant) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Creutzfeldt-Jakob disease (variant) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Angina Pectoris, Variant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Angina Pectoris, Variant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Variant SH3 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Variant SH3 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin E2 variant, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin E2 variant, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

lymphoma/leukemia, b-cell, variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the lymphoma/leukemia, b-cell, variant phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria, cbld type, variant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria, cbld type, variant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

rett syndrome, congenital variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the rett syndrome, congenital variant phenotype from the curated OMIM Gene-Disease Associations dataset.

maple syrup urine disease, mild variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the maple syrup urine disease, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.

gm2-gangliosidosis, ab variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the gm2-gangliosidosis, ab variant phenotype from the curated OMIM Gene-Disease Associations dataset.

{creutzfeldt-jakob disease, variant, resistance to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {creutzfeldt-jakob disease, variant, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset.

xeroderma pigmentosum, variant type Gene Set

From OMIM Gene-Disease Associations

genes associated with the xeroderma pigmentosum, variant type phenotype from the curated OMIM Gene-Disease Associations dataset.

rett syndrome, preserved speech variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the rett syndrome, preserved speech variant phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.

ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant phenotype from the curated OMIM Gene-Disease Associations dataset.

porphyria, acute intermittent, nonerythroid variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the porphyria, acute intermittent, nonerythroid variant phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, cbld type, variant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, cbld type, variant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 18, scid variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 18, scid variant phenotype from the curated OMIM Gene-Disease Associations dataset.

heterotopia, periventricular, ed variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the heterotopia, periventricular, ed variant phenotype from the curated OMIM Gene-Disease Associations dataset.

ebd, localisata variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ebd, localisata variant phenotype from the curated OMIM Gene-Disease Associations dataset.

fabry disease, cardiac variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the fabry disease, cardiac variant phenotype from the curated OMIM Gene-Disease Associations dataset.

carney complex variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the carney complex variant phenotype from the curated OMIM Gene-Disease Associations dataset.

New Variant Creutzfeldt-Jakob Disease Gene Set

From DisGeNET Gene-Disease Associations

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

Prinzmetal'S Variant Angina Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Prinzmetal'S Variant Angina in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Akinetic-Rigid Variant Of Huntington Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Akinetic-Rigid Variant Of Huntington Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Behavioral Variant Of Frontotemporal Dementia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Behavioral Variant Of Frontotemporal Dementia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cutaneous Fibrous Histiocytoma, Epithelioid Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cutaneous Fibrous Histiocytoma, Epithelioid Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Follicular Variant Thyroid Gland Papillary Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Follicular Variant Thyroid Gland Papillary Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lewy Body Variant Of Alzheimer Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lewy Body Variant Of Alzheimer Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metachromatic Leukodystrophy Variant Gene Set

From DisGeNET Gene-Disease Associations

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

Hairy Cell Leukemia Variant Gene Set

From DisGeNET Gene-Disease Associations

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

Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Multiple System Atrophy, Cerebellar Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Multiple System Atrophy, Cerebellar Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Blastoid Variant Mantle Cell Lymphoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Blastoid Variant Mantle Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pleomorphic Variant Mantle Cell Lymphoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pleomorphic Variant Mantle Cell Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dandy Walker Variant Gene Set

From DisGeNET Gene-Disease Associations

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

Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Estren-Dameshek Variant Of Fanconi Anemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Estren-Dameshek Variant Of Fanconi Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Estren-Dameshek Variant Of Fanconi Pancytopenia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Estren-Dameshek Variant Of Fanconi Pancytopenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Heterotopia, Periventricular, Ehlers-Danlos Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Heterotopia, Periventricular, Ehlers-Danlos Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hexosaminidase Alpha-Subunit Deficiency (Variant B) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hexosaminidase Alpha-Subunit Deficiency (Variant B) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cough Variant Asthma Gene Set

From DisGeNET Gene-Disease Associations

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

Vohwinkel Syndrome, Variant Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vohwinkel Syndrome, Variant Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Rett Syndrome, Zappella Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Rett Syndrome, Zappella Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Tangier Disease, Variant Gene Set

From DisGeNET Gene-Phenotype Associations

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

Apoe2 Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe2 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoe4 Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe4 Variant Phenotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoe5 Variant Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Apoe5 Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bche, H Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Bche, J Variant Phenotype Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cpt1A Arctic Variant Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cpt1A Arctic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Creutzfeldt-Jakob Disease, Heidenhain Variant Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Creutzfeldt-Jakob Disease, Heidenhain Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Jk-Null Variant, Finnish Type Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Jk-Null Variant, Finnish Type in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Transferrin Variant Gene Set

From DisGeNET Gene-Phenotype Associations

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

FTO obesity variant mechanism Gene Set

From WikiPathways Pathways 2024

proteins participating in the FTO obesity variant mechanism pathway from the WikiPathways Pathways 2024 dataset.

SARS CoV 2 B 1 1 7 variant antagonises innate immune activation Gene Set

From WikiPathways Pathways 2024

proteins participating in the SARS CoV 2 B 1 1 7 variant antagonises innate immune activation pathway from the WikiPathways Pathways 2024 dataset.

Defective F9 variant does not activate FX Gene Set

From Reactome Pathways 2024

proteins participating in the Defective F9 variant does not activate FX pathway from the Reactome Pathways 2024 dataset.

Defective VWF cleavage by ADAMTS13 variant Gene Set

From Reactome Pathways 2024

proteins participating in the Defective VWF cleavage by ADAMTS13 variant pathway from the Reactome Pathways 2024 dataset.

Defective binding of VWF variant to GPIb:IX:V Gene Set

From Reactome Pathways 2024

proteins participating in the Defective binding of VWF variant to GPIb:IX:V pathway from the Reactome Pathways 2024 dataset.

Defective cofactor function of FVIIIa variant Gene Set

From Reactome Pathways 2024

proteins participating in the Defective cofactor function of FVIIIa variant pathway from the Reactome Pathways 2024 dataset.

Enhanced binding of GP1BA variant to VWF multimer:collagen Gene Set

From Reactome Pathways 2024

proteins participating in the Enhanced binding of GP1BA variant to VWF multimer:collagen pathway from the Reactome Pathways 2024 dataset.

Enhanced cleavage of VWF variant by ADAMTS13 Gene Set

From Reactome Pathways 2024

proteins participating in the Enhanced cleavage of VWF variant by ADAMTS13 pathway from the Reactome Pathways 2024 dataset.

H139Hfs13* PPM1K causes a mild variant of MSUD Gene Set

From Reactome Pathways 2024

proteins participating in the H139Hfs13* PPM1K causes a mild variant of MSUD pathway from the Reactome Pathways 2024 dataset.

IkBA variant leads to EDA-ID Gene Set

From Reactome Pathways 2024

proteins participating in the IkBA variant leads to EDA-ID pathway from the Reactome Pathways 2024 dataset.

Variant SLC6A14 may confer susceptibility towards obesity Gene Set

From Reactome Pathways 2024

proteins participating in the Variant SLC6A14 may confer susceptibility towards obesity pathway from the Reactome Pathways 2024 dataset.

Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5619101 Gene Set

From Reactome Pathways 2024

proteins participating in the Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5619101 pathway from the Reactome Pathways 2024 dataset.

Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5660686 Gene Set

From Reactome Pathways 2024

proteins participating in the Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)_5660686 pathway from the Reactome Pathways 2024 dataset.

GM2 gangliosidosis, AB variant Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease GM2 gangliosidosis, AB variant from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Ohdo syndrome, SBBYS variant Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Ohdo syndrome, SBBYS variant from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Variant Creutzfeldt-Jakob disease Gene Set

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

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

Cough variant asthma Gene Set

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

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

Xeroderma pigmentosum variant type Gene Set

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

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

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene Set

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

genes co-occuring with the disease Neuronal ceroid lipofuscinosis 8 northern epilepsy variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

GM2 gangliosidosis, AB variant Gene Set

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

genes co-occuring with the disease GM2 gangliosidosis, AB variant in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Eosinophilic variant of chromophobe renal cell carcinoma Gene Set

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

genes co-occuring with the disease Eosinophilic variant of chromophobe renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ohdo syndrome, SBBYS variant Gene Set

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

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

Tall cell variant papillary carcinoma Gene Set

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

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

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuronal ceroid lipofuscinosis 8 northern epilepsy variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ataxia - telangiectasia variant Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ataxia - telangiectasia variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Xeroderma pigmentosum variant Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Xeroderma pigmentosum variant phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transferrin variant Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Reclassified - variant of unknown significance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Reclassified - variant of unknown significance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Variant of unknown significance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Variant of unknown significance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Factor VII Marburg I Variant Thrombophilia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Factor VII Marburg I Variant Thrombophilia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Behavioral variant of frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Behavioral variant of frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Venous thromboembolism adjusted for sickle cell variant rs77121243-T Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Venous thromboembolism adjusted for sickle cell variant rs77121243-T phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Severe malaria (adjusted for sickle cell variant rs334) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe malaria (adjusted for sickle cell variant rs334) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Creutzfeldt-Jakob disease (variant) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Creutzfeldt-Jakob disease (variant) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

VARIANT MCH Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the VARIANT MCH drug from theDGIdb Drug Targets 2026 dataset.

Stapes ankylosis with broad thumb and toes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

STAPES ANKYLOSIS WITH BROAD THUMB AND TOES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease STAPES ANKYLOSIS WITH BROAD THUMB AND TOES from the curated CTD Gene-Disease Associations dataset.

broad range of clinical presentations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease broad range of clinical presentations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

major depressive disorder (broad) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease major depressive disorder (broad) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

broad Gene Set

From GeneRIF Biological Term Annotations

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

Major depressive disorder (broad) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Major depressive disorder (broad) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

broad phalanx of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the broad phalanx of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad forehead Gene Set

From HPO Gene-Disease Associations

genes associated with the broad forehead phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the broad hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad jaw Gene Set

From HPO Gene-Disease Associations

genes associated with the broad jaw phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad metatarsal Gene Set

From HPO Gene-Disease Associations

genes associated with the broad metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad metacarpals Gene Set

From HPO Gene-Disease Associations

genes associated with the broad metacarpals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad finger Gene Set

From HPO Gene-Disease Associations

genes associated with the broad finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the broad phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad femoral neck Gene Set

From HPO Gene-Disease Associations

genes associated with the broad femoral neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanges of all fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanges of all fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad hallux phalanx Gene Set

From HPO Gene-Disease Associations

genes associated with the broad hallux phalanx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad middle phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the broad middle phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete heart block with broad rs complexes Gene Set

From HPO Gene-Disease Associations

genes associated with the complete heart block with broad rs complexes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad metacarpal epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the broad metacarpal epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad palm Gene Set

From HPO Gene-Disease Associations

genes associated with the broad palm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad long bones Gene Set

From HPO Gene-Disease Associations

genes associated with the broad long bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the broad thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad forearm bones Gene Set

From HPO Gene-Disease Associations

genes associated with the broad forearm bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad first metatarsal Gene Set

From HPO Gene-Disease Associations

genes associated with the broad first metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad ulna Gene Set

From HPO Gene-Disease Associations

genes associated with the broad ulna phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad columella Gene Set

From HPO Gene-Disease Associations

genes associated with the broad columella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad nasal tip Gene Set

From HPO Gene-Disease Associations

genes associated with the broad nasal tip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad eyebrow Gene Set

From HPO Gene-Disease Associations

genes associated with the broad eyebrow phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad alveolar ridges Gene Set

From HPO Gene-Disease Associations

genes associated with the broad alveolar ridges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad philtrum Gene Set

From HPO Gene-Disease Associations

genes associated with the broad philtrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad chin Gene Set

From HPO Gene-Disease Associations

genes associated with the broad chin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad-based gait Gene Set

From HPO Gene-Disease Associations

genes associated with the broad-based gait phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad clavicles Gene Set

From HPO Gene-Disease Associations

genes associated with the broad clavicles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad foot Gene Set

From HPO Gene-Disease Associations

genes associated with the broad foot phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thin proximal phalanges with broad epiphyses of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the thin proximal phalanges with broad epiphyses of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad ischia Gene Set

From HPO Gene-Disease Associations

genes associated with the broad ischia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad secondary alveolar ridge Gene Set

From HPO Gene-Disease Associations

genes associated with the broad secondary alveolar ridge phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad femoral metaphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the broad femoral metaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad phalanx Gene Set

From HPO Gene-Disease Associations

genes associated with the broad phalanx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad face Gene Set

From HPO Gene-Disease Associations

genes associated with the broad face phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad ribs Gene Set

From HPO Gene-Disease Associations

genes associated with the broad ribs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad skull Gene Set

From HPO Gene-Disease Associations

genes associated with the broad skull phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad neck Gene Set

From HPO Gene-Disease Associations

genes associated with the broad neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad toe Gene Set

From HPO Gene-Disease Associations

genes associated with the broad toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad nail Gene Set

From HPO Gene-Disease Associations

genes associated with the broad nail phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad nasal bridge Gene Set

From MPO Gene-Phenotype Associations

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

broad head Gene Set

From MPO Gene-Phenotype Associations

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

broad limb buds Gene Set

From MPO Gene-Phenotype Associations

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

stapes ankylosis with broad thumb and toes Gene Set

From OMIM Gene-Disease Associations

genes associated with the stapes ankylosis with broad thumb and toes phenotype from the curated OMIM Gene-Disease Associations dataset.

Broad Hallux Phalanx Gene Set

From DisGeNET Gene-Disease Associations

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

Broad Phalanges Of The Hand Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Broad Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Autism Phenotype Gene Set

From DisGeNET Gene-Disease Associations

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

Broad Distal Phalanges Of All Fingers Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Broad Distal Phalanges Of All Fingers in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Middle Phalanx Of Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Broad Middle Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Stapes Ankylosis With Broad Thumb And Toes (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Stapes Ankylosis With Broad Thumb And Toes (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Distal Phalanx Of The Hallux Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Broad Distal Phalanx Of The Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Metacarpal Epiphyses Gene Set

From DisGeNET Gene-Disease Associations

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

Thin Proximal Phalanges With Broad Epiphyses Of The Hand Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thin Proximal Phalanges With Broad Epiphyses Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complete Heart Block With Broad Qrs Complexes Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complete Heart Block With Broad Qrs Complexes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Ulna Gene Set

From DisGeNET Gene-Disease Associations

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

Broad Phalanges Of The 5Th Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Broad Phalanges Of The 5Th Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Broad Forehead Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad First Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Ribs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Eyebrow Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Thumbs Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Nasal Tip Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad-Based Gait Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Femoral Neck Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Metacarpals Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Metatarsal Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Skull Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Face Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Foot Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Jaw Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Columella Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Philtrum Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Distal Phalanx Of Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad Distal Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Broad Alveolar Ridges Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Finger Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Phalanx Of The Toes Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad Phalanx Of The Toes in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Broad Clavicle Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Neck Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Lateral Eyebrow Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Nail Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Ischia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Long Bones Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Toe Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Chin Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Distal Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Distal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad Distal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Broad Femoral Metaphyses Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Secondary Alveolar Ridge Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad 1St Metacarpal Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad 1St Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Broad Uvula Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad 2Nd Toe Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad 2Nd Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Broad Fingertip Gene Set

From DisGeNET Gene-Phenotype Associations

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

Broad Proximal Phalanx Of The Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad Proximal Phalanx Of The Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

broad limb buds Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad face Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad nasal bridge Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad head Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad snout Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad femur neck Gene Set

From MGI Mouse Phenotype Associations 2023

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

broad frontonasal prominence Gene Set

From MGI Mouse Phenotype Associations 2023

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

BROAD-000068-004 Gene Set

From LINCS L1000 CMAP Chemical Perturbation Consensus Signatures

genes differentially expressed following the BROAD-000068-004 small molecule perturbation from the LINCS L1000 CMAP Chemical Perturbation Consensus Signatures dataset.

Broad excitatory neuron_Neocortex_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Broad excitatory neuron_Neocortex_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

broad specificity neutral L-amino acid:basic L-amino acid antiporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the broad specificity neutral L-amino acid:basic L-amino acid antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

broad specificity oxidative DNA demethylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the broad specificity oxidative DNA demethylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Major depressive disorder (broad) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Major depressive disorder (broad) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Broad depression or major depressive disorder (self-reported) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Broad depression or major depressive disorder (self-reported) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Broad depression or major depressive disorder (recurrent) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Broad depression or major depressive disorder (recurrent) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Broad depression or bipolar disorder Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Broad depression or bipolar disorder phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Broad depression or schizophrenia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Broad depression or schizophrenia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Frontometaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set

From 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.

Czech dysplasia metatarsal type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Czech dysplasia metatarsal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, 3, with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloperipheral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloperipheral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wolcott-Rallison dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolcott-Rallison dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic X-linked ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive pseudorheumatoid dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteoglophonic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteoglophonic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia, Kozlowski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Odontoonychodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Odontoonychodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia with multiple dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia with multiple dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal-hepatic-pancreatic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal-hepatic-pancreatic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acampomelic campomelic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acampomelic campomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Missouri type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofrontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofrontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia, kimberley type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia, kimberley type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiac valvular dysplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac valvular dysplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichorhinophalangeal dysplasia type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thanatophoric dysplasia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thanatophoric dysplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cleidocranial dysplasia, forme fruste, with brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From 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.

Craniometaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schneckenbecken dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schneckenbecken dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromicric dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromicric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Terminal osseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Terminal osseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitreoretinopathy with phalangeal epiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromesomelic dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schimke immunoosseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocapitofemoral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrocapitofemoral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Greenberg dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greenberg dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Boomerang dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Boomerang dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniolenticulosutural dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniolenticulosutural dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculodentodigital dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Desbuquois dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chondroectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chondroectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ischiopatellar dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ischiopatellar dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Aggrecan type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Aggrecan type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alveolar capillary dysplasia with misalignment of pulmonary veins Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brachyrachia (short spine dysplasia) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia-focal epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia Strudwick type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia Strudwick type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Septo-optic dysplasia sequence Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Septo-optic dysplasia sequence phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrous dysplasia of jaw Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrous dysplasia of jaw phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Smith McCort dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Smith McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia congenita Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia skin fragility syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia skin fragility syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, pakistani type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kniest dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kniest dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otospondylomegaepiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaepiphyseal dysplasia short limb-hand type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metatrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metatrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyssegmental dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dyssegmental dysplasia from the curated CTD Gene-Disease Associations dataset.

Frontometaphyseal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Frontometaphyseal dysplasia from the curated CTD Gene-Disease Associations dataset.

DEVELOPMENTAL DYSPLASIA OF THE HIP 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 from the curated CTD Gene-Disease Associations dataset.

GNATHODIAPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GNATHODIAPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia 3, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 3, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

Acrocapitofemoral Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acrocapitofemoral Dysplasia from the curated CTD Gene-Disease Associations dataset.

Thanatophoric dysplasia, type 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric dysplasia, type 2 from the curated CTD Gene-Disease Associations dataset.

Cardiac valvular dysplasia, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac valvular dysplasia, X-linked from the curated CTD Gene-Disease Associations dataset.

GREENBERG DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GREENBERG DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Craniolenticulosutural Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniolenticulosutural Dysplasia from the curated CTD Gene-Disease Associations dataset.

Mandibuloacral dysplasia with type B lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type B lipodystrophy from the curated CTD Gene-Disease Associations dataset.

CRANIOECTODERMAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CRANIOECTODERMAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Focal cortical dysplasia of Taylor Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Focal cortical dysplasia of Taylor from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.

Multicystic renal dysplasia, bilateral Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multicystic renal dysplasia, bilateral from the curated CTD Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.

Cranioectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cranioectodermal Dysplasia from the curated CTD Gene-Disease Associations dataset.

TERMINAL OSSEOUS DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TERMINAL OSSEOUS DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Thanatophoric Dysplasia, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric Dysplasia, Type I from the curated CTD Gene-Disease Associations dataset.

Acromicric dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromicric dysplasia from the curated CTD Gene-Disease Associations dataset.

Langer mesomelic dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Langer mesomelic dysplasia from the curated CTD Gene-Disease Associations dataset.

Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Bronchopulmonary Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bronchopulmonary Dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia Tarda, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia Tarda, X-Linked from the curated CTD Gene-Disease Associations dataset.

Polyostotic osteolytic dysplasia, hereditary expansile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyostotic osteolytic dysplasia, hereditary expansile from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 3 from the curated CTD Gene-Disease Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schimke immunoosseous dysplasia from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia from the curated CTD Gene-Disease Associations dataset.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency without anhidrotic ectodermal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset.

Craniofrontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniofrontonasal dysplasia from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia from the curated CTD Gene-Disease Associations dataset.

Anal sphincter dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anal sphincter dysplasia from the curated CTD Gene-Disease Associations dataset.

Anauxetic dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anauxetic dysplasia from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From 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.

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.

Odontoonychodermal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Odontoonychodermal dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaphyseal dysplasia, Kozlowski type from the curated CTD Gene-Disease Associations dataset.

Cortical Dysplasia-Focal Epilepsy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

SPONDYLOPERIPHERAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOPERIPHERAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia, Kimberley Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia, Kimberley Type from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Schneckenbecken dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schneckenbecken dysplasia from the curated CTD Gene-Disease Associations dataset.

Thanatophoric Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric Dysplasia from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia/ skin fragility syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia/ skin fragility syndrome from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Ghosal Hematodiaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ghosal Hematodiaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Smith-McCort Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Smith-McCort Dysplasia from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset.

Fibrous Dysplasia, Polyostotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia, Polyostotic from the curated CTD Gene-Disease Associations dataset.

RETINAL DYSPLASIA, PRIMARY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETINAL DYSPLASIA, PRIMARY from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE from the curated CTD Gene-Disease Associations dataset.

Metaphyseal Dysplasia without Hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Boomerang dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Boomerang dysplasia from the curated CTD Gene-Disease Associations dataset.

Pelviscapular dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pelviscapular dysplasia from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset.

GELEOPHYSIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GELEOPHYSIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Torticollis keloids cryptorchidism renal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Torticollis keloids cryptorchidism renal dysplasia from the curated CTD Gene-Disease Associations dataset.

Campomelic Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Campomelic Dysplasia from the curated CTD Gene-Disease Associations dataset.

Alveolar capillary dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alveolar capillary dysplasia from the curated CTD Gene-Disease Associations dataset.

Ischiopatellar dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ischiopatellar dysplasia from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Renal hepatic pancreatic dysplasia Dandy Walker cyst Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal hepatic pancreatic dysplasia Dandy Walker cyst from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset.

Nail dysplasia, isolated congenital Gene Set

From CTD Gene-Disease Associations

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

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.

DENTIN DYSPLASIA, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DENTIN DYSPLASIA, TYPE II from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 from the curated CTD Gene-Disease Associations dataset.

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset.

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset.

Mandibuloacral dysplasia with type A lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type A lipodystrophy from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Missouri Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset.

Acromesomelic dysplasia, Maroteaux type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromesomelic dysplasia, Maroteaux type from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia 1, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 1, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

ACROPECTOROVERTEBRAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACROPECTOROVERTEBRAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal dysplasia, congenita Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal dysplasia, congenita from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Pakistani Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Pakistani Type from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Aggrecan Type from the curated CTD Gene-Disease Associations dataset.

Parietal Foramina With Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parietal Foramina With Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset.

Eiken Skeletal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Eiken Skeletal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Kniest dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Kniest dysplasia from the curated CTD Gene-Disease Associations dataset.

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset.

Frontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Frontonasal dysplasia from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 1 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 3 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 2 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 5 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 4 from the curated CTD Gene-Disease Associations dataset.

Hip Dysplasia, Beukes Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hip Dysplasia, Beukes Type from the curated CTD Gene-Disease Associations dataset.

craniometaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

thanatophoric dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

campomelic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

kniest dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

boomerang dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

cleidocranial dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease spondyloepimetaphyseal dysplasia, strudwick type from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

multiple epiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

thanatophoric dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

metaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, strudwick type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dentin dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, missouri type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, missouri type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, sponastrime type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, sponastrime type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

multiple epiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acromesomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

anauxetic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

craniometaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

cleidocranial dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

benign mammary dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acromesomelic dysplasia, maroteaux type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease acromesomelic dysplasia, maroteaux type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

schneckenbecken dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

craniodiaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

thymic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

campomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

kniest dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

boomerang dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acrocapitofemoral dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

fibrous dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple epiphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; infant, newborn, diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; infant, newborn, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibromuscular dysplasia; hypertension; renal artery obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibromuscular dysplasia; hypertension; renal artery obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thanatophoric dysplasia Gene Set

From GAD Gene-Disease Associations

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

arrhythmogenic right ventricular dysplasia; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; 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 Set

From 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.

intestinal neuronal dysplasia type b (ind b) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intestinal neuronal dysplasia type b (ind b) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; tachycardia, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; tachycardia, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple epiphyseal dysplasia; pseudoachondroplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple epiphyseal dysplasia; pseudoachondroplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular cardiomyopathy/dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular cardiomyopathy/dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; cardiomyopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; cardiomyopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

osteoarthritis; hip dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease osteoarthritis; hip dysplasia 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 Set

From 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.

pseudoachondroplasia and multiple epiphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pseudoachondroplasia and multiple epiphyseal dysplasia 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 Set

From 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.

multiple oesophageal dysplasia Gene Set

From GAD Gene-Disease Associations

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

risk of cervical dysplasia Gene Set

From GAD Gene-Disease Associations

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

arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hpv-associated cervical dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; chorioamnionitis Gene Set

From GAD Gene-Disease Associations

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

arrhythmogenic right ventricular dysplasia Gene Set

From GAD Gene-Disease Associations

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

autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleidocranial dysplasia Gene Set

From GAD Gene-Disease Associations

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

familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia. Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; Gene Set

From GAD Gene-Disease Associations

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

arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; ectodermal dysplasia; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; ectodermal dysplasia; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibrous dysplasia Gene Set

From GAD Gene-Disease Associations

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

dysplasia Gene Set

From GeneRIF Biological Term Annotations

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

Bronchopulmonary dysplasia Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Bronchopulmonary dysplasia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

nail dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the nail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

retinal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the retinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multiple epiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the multiple epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

acetabular dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the acetabular dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

skeletal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hip dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hip dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chorioretinal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the chorioretinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

metaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the metaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fibrous dysplasia of the bones Gene Set

From HPO Gene-Disease Associations

genes associated with the fibrous dysplasia of the bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

frontoparietal cortical dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the frontoparietal cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lethal skeletal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the lethal skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cortical dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

brainstem dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the brainstem dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

spondylometaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

polyostotic fibrous dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the polyostotic fibrous dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cystic renal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cystic renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fingernail dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the fingernail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

epiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

optic nerve dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the optic nerve dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multicystic kidney dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the multicystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypohidrotic ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hypohidrotic ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

polycystic kidney dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the polycystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebellar dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cerebellar dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hair-nail ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hair-nail ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

toenail dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the toenail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

renal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

diaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the diaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

septo-optic dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the septo-optic dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dysplasia of the femoral head Gene Set

From HPO Gene-Disease Associations

genes associated with the dysplasia of the femoral head phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Septo-Optic Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Septo-Optic Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Bronchopulmonary Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Bronchopulmonary Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Ectodermal Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ectodermal Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Thanatophoric Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Thanatophoric Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibromuscular Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibromuscular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibrous Dysplasia, Polyostotic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibrous Dysplasia, Polyostotic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Cleidocranial Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Cleidocranial Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Uterine Cervical Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Uterine Cervical Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Arrhythmogenic Right Ventricular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Adrenocortical dysplasia protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adrenocortical dysplasia protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

?corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

?epiphyseal dysplasia, multiple, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?epiphyseal dysplasia, multiple, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloperipheral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloperipheral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

acampomelic campomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acampomelic campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

frontometaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

campomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

metaphyseal dysplasia without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 4 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

developmental dysplasia of the hip 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the developmental dysplasia of the hip 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

smith-mccort dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the smith-mccort dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

parietal foramina with cleidocranial dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the parietal foramina with cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

craniometaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

renal-hepatic-pancreatic dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal-hepatic-pancreatic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 6, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 6, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia/short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial-skeletal-dermatologic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial-skeletal-dermatologic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

focal cortical dysplasia, taylor balloon cell type Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal cortical dysplasia, taylor balloon cell type phenotype from the curated OMIM Gene-Disease Associations dataset.

thanatophoric dysplasia, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the thanatophoric dysplasia, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibuloacral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibuloacral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, ectrodactyly, and macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

cleft lip/palate-ectodermal dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleft lip/palate-ectodermal dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

otospondylomegaepiphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the otospondylomegaepiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

boomerang dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the boomerang dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

frontonasal dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontonasal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

frontonasal dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontonasal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

craniolenticulosutural dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniolenticulosutural dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 3, witkop type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 3, witkop type phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaepiphyseal dysplasia, short limb-hand type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 7, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 7, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the oculodentodigital dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

greenberg skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the greenberg skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromesomelic dysplasia, maroteaux type Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromesomelic dysplasia, maroteaux type phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 5, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 5, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

smith-mccort dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the smith-mccort dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

craniodiaphyseal dysplasia, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

septooptic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the septooptic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromesomelic dysplasia, hunter-thompson type Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromesomelic dysplasia, hunter-thompson type phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia, missouri type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia, missouri type phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocephaly with multiple epiphyseal dysplasia and distinctive facies Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocephaly with multiple epiphyseal dysplasia and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tarda Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia tarda phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 1, hypohidrotic, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 1, hypohidrotic, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

schneckenbecken dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the schneckenbecken dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

dentin dysplasia, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dentin dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

de la chapelle dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the de la chapelle dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia-focal epilepsy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia-focal epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

craniometaphyseal dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 4, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 4, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

alveolar capillary dysplasia with misalignment of pulmonary veins Gene Set

From OMIM Gene-Disease Associations

genes associated with the alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated OMIM Gene-Disease Associations dataset.

kniest dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the kniest dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

otodental dysplasia chromsome deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the otodental dysplasia chromsome deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopia and deafness Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopia and deafness phenotype from the curated OMIM Gene-Disease Associations dataset.

acrocapitofemoral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acrocapitofemoral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tarda with progressive arthropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia tarda with progressive arthropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofrontonasal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofrontonasal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

{renal dysplasia, cystic, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {renal dysplasia, cystic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

langer mesomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the langer mesomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

vitreoretinopathy with phalangeal epiphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromicric dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromicric dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

acropectorovertebral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acropectorovertebral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

dentin dysplasia, type i, with microdontia and misshapen teeth Gene Set

From OMIM Gene-Disease Associations

genes associated with the dentin dysplasia, type i, with microdontia and misshapen teeth phenotype from the curated OMIM Gene-Disease Associations dataset.

?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaphyseal dysplasia, kozlowski type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia, kozlowski type phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, sensorineural deafness, and renal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation-skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

desbuquois dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the desbuquois dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

anauxetic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the anauxetic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 9, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 9, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia/skin fragility syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/skin fragility syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

gnathodiaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the gnathodiaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

focal facial dermal dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal facial dermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia with joint laxity, type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 8, hair/tooth/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 8, hair/tooth/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

schimke immunoosseous dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the schimke immunoosseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, hypohidrotic, with immune deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia-syndactyly syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibuloacral dysplasia with type b lipodystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibuloacral dysplasia with type b lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

terminal osseous dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the terminal osseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

desbuquois dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the desbuquois dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?frontonasal dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?frontonasal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiac valvular dysplasia, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiac valvular dysplasia, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

campomelic dysplasia with autosomal sex reversal Gene Set

From OMIM Gene-Disease Associations

genes associated with the campomelic dysplasia with autosomal sex reversal phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

geleophysic dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the geleophysic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

geleophysic dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the geleophysic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyssegmental dysplasia, silverman-handmaker type Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyssegmental dysplasia, silverman-handmaker type phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 2 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

odontoonychodermal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the odontoonychodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

hip dysplasia, beukes type Gene Set

From OMIM Gene-Disease Associations

genes associated with the hip dysplasia, beukes type phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia, forme fruste, with brachydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair phenotype from the curated OMIM Gene-Disease Associations dataset.

focal facial dermal dysplasia 3, setleis type Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal facial dermal dysplasia 3, setleis type phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 5 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

czech dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the czech dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia, aggrecan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia, aggrecan type phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mesomelic dysplasia, kantaputra type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mesomelic dysplasia, kantaputra type phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia, forme fruste, dental anomalies only Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia, forme fruste, dental anomalies only phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia, kimberley type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia, kimberley type phenotype from the curated OMIM Gene-Disease Associations dataset.

metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

metatropic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the metatropic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thanatophoric dysplasia, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the thanatophoric dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

?renal-hepatic-pancreatic dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?renal-hepatic-pancreatic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteoglophonic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteoglophonic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 2, clouston type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 2, clouston type phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset.

Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset.

Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset.

chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Congenital Dysplasia Of The Hip Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Dysplasia Of The Hip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Nail Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Alveolar Capillary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pyle Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Skeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplasia Of Anus Gene Set

From DisGeNET Gene-Disease Associations

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

Multiple Epiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondyloepiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Polyostotic Fibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Campomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mild Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Neuronal Intestinal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Thanatophoric Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Thanatophoric Dysplasia, Type I (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thanatophoric Dysplasia, Type I (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Primary Pigmented Nodular Adrenal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Pigmented Nodular Adrenal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Progressive Pseudorheumatoid Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cervical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fibromuscular Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Smith-Mccort Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dentin Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Lethal Skeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acromicric Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cleidocranial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Geleophysic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniofacial Fibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hip Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Esophageal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mesomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Focal Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondylometaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mitral Valve Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Schimke Immunoosseous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Focal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal Dysplasia And Retinal Aplasia (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Dysplasia And Retinal Aplasia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Craniofrontonasal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Frontonasal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

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

From DisGeNET Gene-Disease Associations

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

Osteofibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cranioectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniometaphyseal Dysplasia, Autosomal Recessive Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Florid Cemento-Osseous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Septo-Optic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Frontometaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Prostatic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Refractory Cytopenia With Multilineage Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Epiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal Cell Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Retinal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hidrotic Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Chorioretinal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondyloepimetaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Gastric Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cystic Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acromesomelic Dysplasia Hunter-Thompson Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acromesomelic Dysplasia Hunter-Thompson Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acromesomelic Dysplasia, Demirhan Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acromesomelic Dysplasia, Demirhan Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Unilateral Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Desbuquois Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cerebellar Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplasia Of Larynx Gene Set

From DisGeNET Gene-Disease Associations

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

Moderate Pancreatic Duct Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Refractory Cytopenia With Multilineage Dysplasia (Rcmd) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia (Rcmd) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dyssegmental Dysplasia, Rolland-Desbuquois Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dyssegmental Dysplasia, Rolland-Desbuquois Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transitional Cell Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acampomelic Campomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniodiaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniodiaphyseal Dysplasia 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 Set

From 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.

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hydranencephaly With Renal Aplasia-Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydranencephaly With Renal Aplasia-Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thymic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bilateral Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Maxillonasal Dysplasia, Binder Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Maxillonasal Dysplasia, Binder Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Skeleton Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cortical Dysplasia With Focal Epilepsy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Otospondylomegaepiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Czech Dysplasia, Metatarsal Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Czech Dysplasia, Metatarsal Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Kniest Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Namaqualand Hip Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondyloperipheral Dysplasia Short Ulna Gene Set

From DisGeNET Gene-Disease Associations

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

Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Oculoskeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Epiphyseal Dysplasia, Multiple, With Myopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pontine Tegmental Cap Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplasia Of Colon Gene Set

From DisGeNET Gene-Disease Associations

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

Hip Dysplasia, Beukes Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hip Dysplasia, Beukes Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Focal Facial Dermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Focal Facial Dermal Dysplasia 4 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Focal Facial Dermal Dysplasia 4 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ghosal Hematodiaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Focal Cortical Dysplasia Type Iia Gene Set

From DisGeNET Gene-Disease Associations

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

Bronchial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Squamous Lung Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fingernail Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Short Rib Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Langer Mesomelic Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Intestinal Epithelial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplasia Epiphysealis Hemimelica Gene Set

From DisGeNET Gene-Disease Associations

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

Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hem Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Otodental Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Pulmonary Acinar Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Skeletal Dysplasia With Acanthosis Nigricans Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Skeletal Dysplasia With Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiac Valvular Dysplasia, X-Linked Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardiac Valvular Dysplasia, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Terminal Osseous Dysplasia And Pigmentary Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Terminal Osseous Dysplasia And Pigmentary Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Boomerang Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Caudal Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Acromesomelic Dysplasia, Maroteaux Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acromesomelic Dysplasia, Maroteaux Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Angel Shaped Phalangoepiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Developmental Dysplasia Of The Hip 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Developmental Dysplasia Of The Hip 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hip Dysplasia, Congenital, Nonsyndromic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hip Dysplasia, Congenital, Nonsyndromic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Focal Cortical Dysplasia Type Iib Gene Set

From DisGeNET Gene-Disease Associations

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

Oculodentodigital Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrous Dysplasia, Monostotic Gene Set

From DisGeNET Gene-Disease Associations

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

Polyostotic Fibrous Dysplasia, Somatic, Mosaic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polyostotic Fibrous Dysplasia, Somatic, Mosaic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Multicystic Renal Dysplasia, Bilateral Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Multicystic Renal Dysplasia, Bilateral in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Genitourinary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dyssegmental Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Thoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acrocapitofemoral Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acropectorovertebral Dysplasia, F-Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acropectorovertebral Dysplasia, F-Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Renal Dysplasia Diffuse Cystic Gene Set

From DisGeNET Gene-Disease Associations

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

Schneckenbecken Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bladder Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hair-Nail Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Stuve-Wiedemann Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Osteosclerotic Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Parietal Foramina With Cleidocranial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Parietal Foramina With Cleidocranial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Focal Cortical Dysplasia Of Taylor Gene Set

From DisGeNET Gene-Disease Associations

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

Acrocephalopolydactylous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal-Hepatic-Pancreatic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Diencephalic Mesencephalic Junction Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Blomstrand Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Glenoid Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Kyphomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cervical Vertebral Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Anauxetic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Anauxetic Dysplasia 2 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anauxetic Dysplasia 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Ectodermal Dysplasia Of Face Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Ectodermal Dysplasia Of Face in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Eiken Skeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Craniolenticulosutural Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Refractory Cytopenia With Multilineage Dysplasia And Ringed Sideroblasts Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia And Ringed Sideroblasts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

De La Chapelle Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Campomelic Dysplasia With Autosomal Sex Reversal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Campomelic Dysplasia With Autosomal Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pelviscapular Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Diaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cerebrofaciothoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Ulcerative Colitis-Associated Low-Grade Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ulcerative Colitis-Associated Low-Grade Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Trichorhinophalangeal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Metatropic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Isolated Focal Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Frontoparietal Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Placental Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Odonto-Onycho-Dermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Odontoonychodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mandibuloacral Dysplasia With Type B Lipodystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mandibuloacral Dysplasia With Type B Lipodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acromelic Frontonasal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Toenail Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cerebellar Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Spondyloepimetaphyseal Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Optic Nerve Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Micromelic Dysplasia, Congenital, With Dislocation Of Radius Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Micromelic Dysplasia, Congenital, With Dislocation Of Radius in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Dysplasia Of The Femoral Head Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Dysplasia Of The Femoral Head in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Brainstem Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Osteofibrous Dysplasia, Susceptibility To Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteofibrous Dysplasia, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Megakaryocyte Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Arrhythmogenic Right Ventricular Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cerebro-Facio-Thoracic Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Multiple epiphyseal dysplasia and pseudoachondroplasia genes Gene Set

From WikiPathways Pathways 2024

proteins participating in the Multiple epiphyseal dysplasia and pseudoachondroplasia genes pathway from the WikiPathways Pathways 2024 dataset.

IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) Gene Set

From Reactome Pathways 2024

proteins participating in the IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) pathway from the Reactome Pathways 2024 dataset.

Spondyloepiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Spondyloepiphyseal dysplasia tarda Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

X-linked spondyloepiphyseal dysplasia tarda Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked spondyloepiphyseal dysplasia tarda from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Campomelic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Metatropic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Osteoglophonic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Anauxetic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Cranioectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Multiple epiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Septooptic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Ectodermal dysplasia and immune deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Ectodermal dysplasia and immune deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Frontonasal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Boomerang dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Metaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Greenberg dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Thanatophoric dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Craniometaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Oculodentodigital dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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