| Name |
|---|
RRIS GeneRespiratory rhythmicity in sleep |
AGER Geneadvanced glycosylation end product-specific receptor The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011] |
FRAT1 Genefrequently rearranged in advanced T-cell lymphomas 1 The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008] |
FRAT2 Genefrequently rearranged in advanced T-cell lymphomas 2 The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008] |
DGS2 GeneDiGeorge syndrome/velocardiofacial syndrome complex 2 |
TCOF1 GeneTreacher Collins-Franceschetti syndrome 1 This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008] |
CDAGS GeneCraniosynostosis, anal anomalies, and porokeratosis syndrome |
PISRT1 Genepolled intersex syndrome regulated transcript 1 (non-protein coding RNA) |
SPG21 Genespastic paraplegia 21 (autosomal recessive, Mast syndrome) The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014] |
FRIASS GeneFrias syndrome |
DEL8Q13 GeneMesomelia-synostoses syndrome |
RENS2 GeneRenpenning syndrome 2 |
DUP5P13 GeneChromosome 5p13 duplication syndrome |
USH3B GeneUsher syndrome 3B |
ASPG2 GeneAsperger syndrome, susceptibility to, 2 |
ASPG3 GeneAsperger syndrome, susceptibility to, 3 |
ASPG4 GeneAsperger syndrome, susceptibility to, 4 |
MGS GeneMungan syndrome |
FWS GeneForsythe-Wakeling syndrome |
DEL15Q26QTER GeneChromosome 15q26-qter deletion syndrome |
SSSCA1 GeneSjogren syndrome/scleroderma autoantigen 1 This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008] |
SPG20 Genespastic paraplegia 20 (Troyer syndrome) This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008] |
JBS GeneJacobsen syndrome |
WS2B GeneWaardenburg syndrome, type 2B |
WS2C GeneWaardenburg syndrome, type IIC |
MRXSAB GeneAbidi X-linked mental retardation syndrome |
WHSC1 GeneWolf-Hirschhorn syndrome candidate 1 This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008] |
COHEN1 GeneCohen syndrome QTL 1 |
AOMS1 GeneAbdominal obesity-metabolic syndrome QTL1 |
AOMS2 Geneabdominal obesity-metabolic syndrome QTL2 |
DCR GeneDown syndrome chromosome region Down syndrome, also known as trisomy 21, is the most frequent form of cognitive disability caused by a microscopically demonstrable chromosomal aberration. It is caused by a third copy (trisomy) of all or a critical portion of chromosome 21. Down syndrome is characterized by physical growth delays, dysmorphic facial features, heart and gastrointestinal disorders, and mild to moderate cognitive disability. [provided by RefSeq, Jul 2017] |
DUPXP11.22 GeneXp11.22 microduplication syndrome |
DEL15Q11.2 GeneChromosome 15q11.2 deletion syndrome |
HHT3 GeneOsler-Rendu-Weber syndrome 3 |
DEL1Q43Q44 GeneChromosome 1q42-q44 deletion syndrome |
OGS2 GeneOpitz G syndrome, type II This disorder, variously named the G, Opitz-G, or BBB syndrome, includes hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; and congenital heart defects.[supplied by OMIM, Jul 2002] |
AMMECR1 GeneAlport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] |
TUKLS GeneTukel syndrome |
PIH2 Genepregnancy-induced hypertension syndrome-related protein |
CXDUPQ26.3 GeneChromosome Xq26.3 duplication syndrome |
LOC729770 Genewiskott-Aldrich syndrome protein homolog |
HBHR Genealpha-thalassemia/mental retardation syndrome, type 1 |
NMLFS GeneNablus mask-like facial syndrome |
BMIQ16 GeneChromosome 16p11.2 deletion syndrome, 220kb |
DELYQ11 GeneSertoli cell-only syndrome, Y-linked |
DEL19P13.13 GeneChromosome 19p13.13 deletion syndrome |
DEL3PTERP25 Gene3p- syndrome |
TRIP4Q32.1Q32.2 GeneChromosome 4q32.1-q32.2 triplication syndrome |
DEL3Q13.31 GeneChromosome 3q13.31 deletion syndrome |
DEL15Q25 GeneChromosome 15q25 deletion syndrome |
SSB GeneSjogren syndrome antigen B (autoantigen La) The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014] |
DELXP21 GeneChromosome Xp21 deletion syndrome |
DEL17Q12 GeneChromosome 17q12 deletion syndrome |
EDS8 GeneEhlers-Danlos syndrome, type VIII |
LOC102724426 GeneSjoegren syndrome nuclear autoantigen 1 homolog |
DSCR8 GeneDown syndrome critical region 8 |
DSCR3 GeneDown syndrome critical region 3 The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008] |
MLSM7 GeneMyelodysplasia and leukemia syndrome with monosomy 7 |
ALMS1 GeneAlstrom syndrome protein 1 This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014] |
TAM GeneMyeloproliferative syndrome, transient (transient abnormal |
WHCR GeneWolf-Hirschhorn syndrome chromosome region Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008 [PubMed 18932224]).[supplied by OMIM, Nov 2010] |
DEL2Q23.1 GeneChromosome 2q23.1 deletion syndrome |
WHSC1L1 GeneWolf-Hirschhorn syndrome candidate 1-like 1 This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015] |
ATRX Genealpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017] |
DUP16P11.2 GeneChromosome 16p11.2 duplication syndrome |
MMDFS GeneMultiple mitochondrial dysfunctions syndrome |
DEL8Q21.11 GeneChromosome 8q21.11 deletion syndrome |
CDL2 GeneCornelia de Lange syndrome 2 |
DEL3Q29 GeneChromosome 3q29 microdeletion syndrome |
AMMEC GeneAlport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |
DGCR9 GeneDiGeorge syndrome critical region gene 9 (non-protein coding) |
DGCR2 GeneDiGeorge syndrome critical region gene 2 Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
DGCR5 GeneDiGeorge syndrome critical region gene 5 (non-protein coding) Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025] |
DGCR7 GeneDiGeorge syndrome critical region gene 7 |
DGCR6 GeneDiGeorge syndrome critical region gene 6 DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008] |
DEL9P GeneChromosome 9p deletion syndrome |
LVSKS GeneLevy-Shanske syndrome |
ADFN Genealbinism-deafness syndrome |
GPDS1 Geneglaucoma-related pigment dispersion syndrome 1 |
DEL2Q32Q33 GeneChromosome 2q32-q33 deletion syndrome |
CECR5 Genecat eye syndrome chromosome region, candidate 5 Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
CECR9 Genecat eye syndrome chromosome region, candidate 9 (non-protein coding) Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101929941 Geneneural Wiskott-Aldrich syndrome protein-like |
RIEG2 GeneRieger syndrome 2 |
DEL1Q41Q42 GeneChromosome 1q41-q42 deletion syndrome |
SBDS GeneShwachman-Bodian-Diamond syndrome This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017] |
PSS GenePotocki-Shaffer syndrome |
OCRL Geneoculocerebrorenal syndrome of Lowe This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
LOC100420893 GeneDown syndrome critical region 3 pseudogene |
PCOS1 Genepolycystic ovary syndrome 1 |
WHSC1L2P GeneWolf-Hirschhorn syndrome candidate 1-like 2, pseudogene |
DEL11P13 GeneWilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
WBSCR27 GeneWilliams Beuren syndrome chromosome region 27 This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008] |
WBSCR28 GeneWilliams-Beuren syndrome chromosome region 28 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DUP17Q23.1Q23.2 GeneChromosome 17q23.1-q23.2 duplication syndrome |
FGS2 GeneFG syndrome 2 |
FGS3 GeneFG syndrome 3 |
HYLS1 Genehydrolethalus syndrome 1 This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008] |
EVC2 GeneEllis van Creveld syndrome 2 This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
ACF GeneAsymmetric crying facies (Cayler cardiofacial syndrome) |
DEL6Q24Q25 GeneChromosome 6q25-q25 deletion syndrome |
MYSA Genemyasthenic (Lambert-Eaton) syndrome antigen A |
INDX GeneImmunoneurologic syndrome X-linked, of Wood, Black, and Norbury |
SCLL GeneChromosome 8p11 myeloproliferative syndrome |
ACLS Geneacrocallosal syndrome |
USHBP1 GeneUsher syndrome 1C binding protein 1 Enables PDZ domain binding activity. [provided by Alliance of Genome Resources, Mar 2025] |
LOC389465 GeneSjogren syndrome antigen B pseudogene |
TEMPS GeneTemple syndrome |
GHS GeneGoldenhar syndrome |
KONDS GeneKondoh syndrome |
NIPA2P3 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3 |
NIPA2P2 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2 |
NIPA2P1 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1 |
NIPA2P5 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5 |
NIPA2P4 Genenon imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4 |
NHS GeneNance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014] |
MROS GeneMelkersson-Rosenthal syndrome |
CECR1 Genecat eye syndrome chromosome region, candidate 1 This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
CECR2 Genecat eye syndrome chromosome region, candidate 2 This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] |
CECR3 Genecat eye syndrome chromosome region, candidate 3 (non-protein coding) |
CECR6 Genecat eye syndrome chromosome region, candidate 6 |
DELXQ28 GeneChromosome Xq28 microdeletion syndrome |
APMR3 GeneAlopecia-mental retardation syndrome 3 |
APMR2 GeneAlopecia with mental retardation syndrome 2 |
APMR1 GeneAlopecia-mental retardation syndrome |
COHEN2 GeneCohen syndrome QTL 2 |
DUP2Q31.1 GeneChromosome 2q31.1 duplication syndrome |
MKKS GeneMcKusick-Kaufman syndrome This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2023] |
DEL22Q11.2 GeneChromosome 22q11.2 deletion syndrome, distal |
USH2A GeneUsher syndrome 2A (autosomal recessive, mild) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
MDS2 Genemyelodysplastic syndrome 2 translocation associated Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
DEL13Q14 GeneChromosome 13q14 deletion syndrome |
DUP16P13.3 GeneChromosome 16p13.3 duplication syndrome |
DEL6PTER GeneChromosome 6pter deletion syndrome |
WRN GeneWerner syndrome, RecQ helicase-like This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017] |
DUPXQ28 GeneChromosome Xq28 duplication syndrome |
DEL2P12P11.2 GeneChromosome 2p12-p11.2 deletion syndrome |
ARCODS GeneAriculocondylar syndrome |
MKS1 GeneMeckel syndrome, type 1 The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
DGCR GeneDiGeorge syndrome chromosome region DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009] |
LOC100421446 GeneWolf-Hirschhorn syndrome candidate 1-like 1 pseudogene |
ANCR GeneAngelman syndrome chromosome region Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017] |
DEL2Q31 GeneChromosome 2q31.2 deletion syndrome |
RJBS GeneRajab syndrome |
DEL16P12.1P11.2 GeneChromosome 16p12.2-p11.2 deletion syndrome |
MDNS GeneMammary-digital-nail syndrome |
DEL2P16.1-P15 GeneChromosome 2p16.1-p15 deletion syndrome |
WBSCR17 GeneWilliams-Beuren syndrome chromosome region 17 This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013] |
DEL6Q11Q14 GeneChromosome 6q11-q14 deletion syndrome |
WAS GeneWiskott-Aldrich syndrome The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008] |
MEHMO Genemental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome |
MRXSA GeneArmfield X-linked mental retardation syndrome |
MRXSL GeneLubs X-linked mental retardation syndrome |
RFMN GeneRoifman syndrome |
DUP22Q11.2 GeneChromosome 22q11.2 microduplication syndrome |
DSCAM GeneDown syndrome cell adhesion molecule This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] |
CATMANS GeneCatel-Manzke syndrome |
ICR4 Geneichthyosis congenita IV, ichthyosis-prematurity syndrome |
LRSL GeneLarsen-like syndrome |
DUP7Q11.23 GeneChromosome 7q11.23 duplication syndrome |
MRXSBWB GeneBrooks-Wisniewski-Brown syndrome |
MBS1 GeneMoebius syndrome 1 |
MBS2 GeneMoebius syndrome 2 |
MBS3 GeneMoebius syndrome 3 |
THAS Genethoracoabdominal syndrome |
DEL16P13.3 GeneChromosome 16p13.3 deletion syndrome |
DSCR9 GeneDown syndrome critical region 9 (non-protein coding) |
DSCR4 GeneDown syndrome critical region 4 The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015] |
DEL17Q23.1Q23.2 GeneChromosome 17q23.1-q23.2 deletion syndrome |
AIC GeneAicardi syndrome |
DEL1P32P31 GeneChromosome 1p32-p31 deletion syndrome |
DUPXQ27.3Q28 GeneChromosome Xq27.3-q28 duplication syndrome |
DEL14Q11Q22 GeneChromosome 14q11-q22 deletion syndrome |
MCS GeneMiles-Carpenter X-linked mental retardation syndrome |
SPPM Genescapuloperoneal syndrome, myopathic type |
DUP17P13.3 GeneChromosome 17p13.3 duplication syndrome |
SMCR8 GeneSmith-Magenis syndrome chromosome region, candidate 8 Enables GTPase activator activity; protein kinase binding activity; and protein kinase inhibitor activity. Contributes to guanyl-nucleotide exchange factor activity. Involved in negative regulation of gene expression; regulation of TOR signaling; and regulation of macroautophagy. Located in Atg1/ULK1 kinase complex; chromatin; and nucleoplasm. Part of guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Mar 2025] |
SMCR2 GeneSmith-Magenis syndrome chromosome region, candidate 2 (non-protein coding) |
SMCR5 GeneSmith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) |
SMCR6 GeneSmith-Magenis syndrome chromosome region, candidate 6 (non-protein coding) |
CECR7 Genecat eye syndrome chromosome region, candidate 7 (non-protein coding) |
CYLD Genecylindromatosis (turban tumor syndrome) This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
DEL2P21 GeneHypotonia-cystinuria syndrome |
WAGRO GeneWAGRO syndrome |
OFD1 Geneoral-facial-digital syndrome 1 This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016] |
EDSS2 GeneEctodermal dysplasia-syndactyly syndrome 2 |
DELXP11.3 GeneChromosome Xp11.3 deletion syndrome |
MRXSMP GeneMartin-Probst deafness-mental retardation syndrome |
MSD Genemicrocephaly with spastic diplegia (Paine syndrome) |
PRS GenePrieto X-linked mental retardation syndrome |
DUP17Q12 GeneChromosome 17q12 duplication syndrome |
USH1K GeneUsher syndrome 1K (autosomal recessive) |
SPG38 Genespastic paraplegia 38 (autosomal dominant, Silver syndrome) |
ALMS1P GeneAlstrom syndrome 1 pseudogene |
SBDSP1 GeneShwachman-Bodian-Diamond syndrome pseudogene 1 |
ACRPV GeneAcropectorovertebral dysplasia (F syndrome) |
ACRPS GeneAcropectoral syndrome |
PRBNS GenePierre Robin syndrome |
ZLS GeneZimmerman-Laband Syndrome |
CCCSX GeneCerebral-cerebellar-coloboma syndrome, X-linked |
WBSCR22 GeneWilliams Beuren syndrome chromosome region 22 This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011] |
WFS1 GeneWolfram syndrome 1 (wolframin) This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] |
DUP3Q29 Genechromosome 3q29 microduplication syndrome |
DUPXP11.23P11.22 GeneChromosome Xp11.23-p11.22 duplication syndrome |
ASPG1 GeneAsperger syndrome, susceptibility to, 1 |
DEL18P GeneChromosome 18p deletion syndrome |
DEL18Q GeneChromosome 18q deletion syndrome |
FRTS1 GeneFanconi renotubular syndrome |
PTLS GenePotocki-Lupski syndrome |
CECR Genecat eye syndrome chromosome region Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009] |
FGS5 GeneFG syndrome 5 |
IPW Geneimprinted in Prader-Willi syndrome (non-protein coding) This gene is non-protein coding, is expressed exclusively from the paternal allele, and may play a role in the imprinting process. Mutations in this gene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010] |
DER22T11-22 GeneEmanuel syndrome |
DGCR11 GeneDiGeorge syndrome critical region gene 11 (non-protein coding) |
DGCR10 GeneDiGeorge syndrome critical region gene 10 (non-protein coding) |
DGCR12 GeneDiGeorge syndrome critical region gene 12 (non-protein coding) |
DGCR14 GeneDiGeorge syndrome critical region gene 14 This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] |
DSCR10 GeneDown syndrome critical region 10 (non-protein coding) |
GTS GeneGilles de la Tourette syndrome |
DEL15Q24 GeneChromosome 15q24 deletion syndrome |
RCHTS GeneRoifman-Chitayat syndrome |
C16DELQ22 GeneChromosome 16q22 deletion syndrome |
TRPS1 Genetrichorhinophalangeal syndrome I This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] |
DEL15Q13.3 GeneChromosome 15q13.3 microdeletion syndrome |
DWS Genedandy-walker syndrome |
DUP1Q21 GeneChromosome 1q21.1 duplication syndrome |
WBS2 GeneWilliams-Beuren syndrome type 2 |
WBSCR2 GeneWilliams-Beuren syndrome chromosome region 2 |
LFS3 GeneLi-Fraumeni syndrome 3 |
ATD Geneasphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome) |
USH1H GeneUsher syndrome 1H (autosomal recessive) |
USH1C GeneUsher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
USH1G GeneUsher syndrome 1G (autosomal recessive) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
USH1E GeneUsher syndrome 1E (autosomal recessive, severe) |
RSS GeneRussell Silver syndrome |
SCKL3 GeneSeckel syndrome 3 |
WSN GeneWaisman syndrome |
RSCIS GeneRadiation sensitivity/chromosome instability syndrome, autosomal dominant |
DER22T8-22 GeneSupernumerary der(22)t(8-22) syndrome |
GUST GeneGustavson mental retardation syndrome (with microcephaly, optic |
RLS3 GeneRestless legs syndrome 3 |
RLS2 GeneRestless legs syndrome 2 |
RLS1 GeneRestless legs syndrome, susceptibility to |
RLS7 GeneRestless legs syndrome 7 |
RLS6 GeneRestless legs syndrome, susceptibility to, 6 |
RLS5 GeneRestless legs syndrome, susceptibility to, 5 |
RLS8 GeneRestless legs syndrome, susceptibility to, 8 |
WASL GeneWiskott-Aldrich syndrome-like This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013] |
BBS9 GeneBardet-Biedl syndrome 9 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017] |
BBS1 GeneBardet-Biedl syndrome 1 Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] |
BBS2 GeneBardet-Biedl syndrome 2 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014] |
BBS5 GeneBardet-Biedl syndrome 5 This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008] |
BBS4 GeneBardet-Biedl syndrome 4 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein `BBSome` complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
BBS7 GeneBardet-Biedl syndrome 7 This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014] |
NIPA2 Genenon imprinted in Prader-Willi/Angelman syndrome 2 This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010] |
NIPA1 Genenon imprinted in Prader-Willi/Angelman syndrome 1 This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008] |
LOC100500719 GeneHermansky-Pudlak syndrome 1 pseudogene |
ATPLS Geneantiphospholipid syndrome, familial |
DEL1P36 GeneChromosome 1p36 deletion syndrome |
DURS1 GeneDuane retraction syndrome 1 |
VWSM GeneVan der Woude syndrome modifier |
DSCAML1 GeneDown syndrome cell adhesion molecule like 1 The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016] |
LOC653588 GeneSjogren syndrome antigen B (autoantigen La) pseudogene |
GTSCR1 GeneGilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding) Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
DEL17Q21.31 GeneMicrodeletion 17q21.31 syndrome |
NS2 GeneNoonan syndrome 2 |
RLS4 GeneRestless legs syndrome 4 |
DEL7Q11.23 GeneChromosome 7q11.23 deletion syndrome, distal, 1.2Mb |
AOS GeneAdams-Oliver syndrome |
BBS10 GeneBardet-Biedl syndrome 10 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] |
BBS12 GeneBardet-Biedl syndrome 12 The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010] |
CFSS Genecraniofacioskeletal syndrome |
SSNA1 GeneSjogren syndrome nuclear autoantigen 1 Enables identical protein binding activity and microtubule binding activity. Involved in axonogenesis; cell division; and microtubule nucleation. Located in several cellular components, including axoneme; microtubule organizing center; and midbody. [provided by Alliance of Genome Resources, Mar 2025] |
DUP17Q21.31 GeneChromosome 17q21.31 duplication syndrome |
BOS2 GeneBranchiootic syndrome 2 |
DEL19Q13.11 GeneChromosome 19q13.11 deletion syndrome |
LOC100533757 GeneSjogren syndrome antigen B (autoantigen La) pseudogene |
DEL10Q26 GeneChromosome 10q deletion syndrome |
WBSCR16 GeneWilliams-Beuren syndrome chromosome region 16 This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
OTDD GeneOtodental dysplasia chromosome deletion syndrome |
DEL17Q11.2 Genechromosome 17q11.2 deletion syndrome |
DUP8Q22.1 GeneLeri pleonosteosis chromosome duplication syndrome |
EEC2 Geneectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2 |
EEC1 Geneectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 |
DEL4Q21 GeneChromosome 4q21 deletion syndrome |
DUP22Q13 GeneChromosome 22q13 duplication syndrome |
DGCR6L GeneDiGeorge syndrome critical region gene 6-like This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008] |
BLM GeneBloom syndrome, RecQ helicase-like The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020] |
WTRS GeneWittwer syndrome |
DEL17P13.1 GeneChromosome 17p13.1 deletion syndrome |
KTWS GeneKlippel-Trenaunay-Weber syndrome |
DEL11P15P14 GeneChromosome 11p15-p14 deletion syndrome |
DEL1Q21 GeneChromosome 1q21.1 deletion syndrome |
DEL8Q12Q21 GeneBor-Duane hydrocephalus contiguous gene syndrome |
SLSN3 GeneSenior-Loken syndrome 3 |
BZX GeneBazex syndrome |
ARVCF Genearmadillo repeat gene deleted in velocardiofacial syndrome Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010] |
HPS5 GeneHermansky-Pudlak syndrome 5 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
HPS4 GeneHermansky-Pudlak syndrome 4 This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] |
HPS6 GeneHermansky-Pudlak syndrome 6 This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] |
HPS1 GeneHermansky-Pudlak syndrome 1 This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015] |
HPS3 GeneHermansky-Pudlak syndrome 3 This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015] |
LCS1 Genelymphedema-cholestasis syndrome 1 |
Advanced Sleep-Phase Syndrome, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Advanced Sleep-Phase Syndrome, Familial from the curated CTD Gene-Disease Associations dataset. |
Advanced Sleep-Phase Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Sleep-Phase Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
sleep apnea, obstructive; sleep deprivation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep apnea, obstructive; sleep deprivation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; sleep disorders; sleep initiation and maintenance disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; sleep disorders; sleep initiation and maintenance disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
circadian sleep/wake cycle, rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the circadian sleep/wake cycle, rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of circadian sleep/wake cycle, rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of circadian sleep/wake cycle, rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of circadian sleep/wake cycle, non-rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of circadian sleep/wake cycle, non-rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
circadian sleep/wake cycle, non-rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the circadian sleep/wake cycle, non-rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of circadian sleep/wake cycle, non-rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of circadian sleep/wake cycle, non-rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of circadian sleep/wake cycle, rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of circadian sleep/wake cycle, rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of circadian sleep/wake cycle, rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of circadian sleep/wake cycle, rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of circadian sleep/wake cycle, non-rem sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of circadian sleep/wake cycle, non-rem sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of circadian sleep/wake cycle, REM sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of circadian sleep/wake cycle, REM sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of circadian sleep/wake cycle, REM sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of circadian sleep/wake cycle, REM sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of circadian sleep/wake cycle, non-REM sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of circadian sleep/wake cycle, non-REM sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of circadian sleep/wake cycle, REM sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of circadian sleep/wake cycle, REM sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of circadian sleep/wake cycle, non-REM sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of circadian sleep/wake cycle, non-REM sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of circadian sleep/wake cycle, REM sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of circadian sleep/wake cycle, REM sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of circadian sleep/wake cycle, REM sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of circadian sleep/wake cycle, REM sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of circadian sleep/wake cycle, non-REM sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of circadian sleep/wake cycle, non-REM sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of circadian sleep/wake cycle, REM sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of circadian sleep/wake cycle, REM sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of circadian sleep/wake cycle, non-REM sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of circadian sleep/wake cycle, non-REM sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of circadian sleep/wake cycle, sleep Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of circadian sleep/wake cycle, sleep biological process from the curated GO Biological Process Annotations 2025 dataset. |
Obstructive sleep apnea (average oxygen saturation during sleep) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obstructive sleep apnea (average oxygen saturation during sleep) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obstructive sleep apnea during REM sleep (apnea hypopnea index) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obstructive sleep apnea during REM sleep (apnea hypopnea index) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep duration (short sleep) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep duration (short sleep) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep duration (long sleep) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep duration (long sleep) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Familial sleep-related hypermotor epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial sleep-related hypermotor epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
advanced-stage endometriosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease advanced-stage endometriosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
advanced colorectal cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease advanced colorectal cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
advanced retinopathy of prematurity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease advanced retinopathy of prematurity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
advanced prostate cancer Gene SetFrom GAD Gene-Disease Associations genes associated with the disease advanced prostate cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
advanced colorectal carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease advanced colorectal carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
advanced uterine cervical carcinoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease advanced uterine cervical carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
advanced Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term advanced in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
advanced eruption of teeth Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the advanced eruption of teeth phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
advanced ossification of carpal bones Gene SetFrom HPO Gene-Disease Associations genes associated with the advanced ossification of carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
advanced tarsal ossification Gene SetFrom HPO Gene-Disease Associations genes associated with the advanced tarsal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
advanced eruption of teeth Gene SetFrom HPO Gene-Disease Associations genes associated with the advanced eruption of teeth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
colon cancer, advanced, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the colon cancer, advanced, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
Advanced glycosylation endproduct receptor signaling Gene Setproteins participating in the Advanced glycosylation endproduct receptor signaling pathway from the Reactome Pathways dataset. |
Advanced Breast Cancer Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Breast Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Locally Advanced Breast Cancer Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Locally Advanced Breast Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Cirrhosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Bile Duct Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Bile Duct Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Lung Cancer Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Lung Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Renal Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Renal Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Cutaneous Melanoma Of The Extremity Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Cutaneous Melanoma Of The Extremity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Head And Neck Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Head And Neck Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Prostate Adenocarcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Prostate Adenocarcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Urothelial Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Urothelial Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Locally Advanced Pancreatic Adenocarcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Locally Advanced Pancreatic Adenocarcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Lung Non-Squamous Non-Small Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Lung Non-Squamous Non-Small Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Melanoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Melanoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pleural Mesothelioma Malignant Advanced Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pleural Mesothelioma Malignant Advanced in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Lung Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Lung Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Uveal Melanoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Uveal Melanoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Laryngeal Squamous Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Laryngeal Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Chronic Liver Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Chronic Liver Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Head And Neck Squamous Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Head And Neck Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Hypopharyngeal Squamous Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Hypopharyngeal Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Locally Advanced Squamous Cell Carcinoma Of The Skin Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Locally Advanced Squamous Cell Carcinoma Of The Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Prostate Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Prostate Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Locally Advanced Squamous Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Locally Advanced Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Malignant Solid Neoplasm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Malignant Solid Neoplasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Gastric Neuroendocrine Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Gastric Neuroendocrine Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Sarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Synovial Sarcoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Synovial Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mesothelioma Malignant Advanced Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mesothelioma Malignant Advanced in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Locally Advanced Malignant Neoplasm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Locally Advanced Malignant Neoplasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Locally Advanced Pancreatic Ductal Adenocarcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Locally Advanced Pancreatic Ductal Adenocarcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Non-Advanced Adenomas Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Non-Advanced Adenomas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Cervical Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Cervical Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Lymphoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Locally Advanced Cervical Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Locally Advanced Cervical Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Oral Cavity Squamous Cell Carcinoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Oral Cavity Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Squamous Cell Carcinoma Of The Oropharynx Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Advanced Squamous Cell Carcinoma Of The Oropharynx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Advanced Bone Age Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Advanced Bone Age in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Advanced Ossification Of Carpal Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Advanced Ossification Of Carpal Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Advanced Tarsal Ossification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Advanced Tarsal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Advanced Pneumatization Of The Mastoid Process Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Advanced Pneumatization Of The Mastoid Process in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Advanced glycosylation endproduct receptor signaling Gene Setproteins participating in the Advanced glycosylation endproduct receptor signaling pathway from the Reactome Pathways 2024 dataset. |
Short stature and advanced bone age Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature and advanced bone age phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Soluble receptor for advanced glycation end-product levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Soluble receptor for advanced glycation end-product levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Advanced age-related macular degeneration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Advanced age-related macular degeneration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Colorectal adenoma (advanced) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Colorectal adenoma (advanced) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Prostate cancer (advanced) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Prostate cancer (advanced) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Colorectal cancer or advanced adenoma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Colorectal cancer or advanced adenoma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
sleep disorders; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep disorders; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obstructive sleep apnea syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obstructive sleep apnea syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Obstructive Sleep Apnea Hypopnea Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obstructive Sleep Apnea Hypopnea Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ahdc1-Related Intellectual Disability, Obstructive Sleep Apnea, Mild Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Central Sleep Apnea Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Central Sleep Apnea Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Upper Airway Resistance Sleep Apnea Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Upper Airway Resistance Sleep Apnea Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Insufficient Sleep Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Insufficient Sleep Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Intellectual disability-hypotonia-spasticity-sleep disorder syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset. |
amyloidosis, familial; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis, familial; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
albuminuria; amyloidosis, familial; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease albuminuria; amyloidosis, familial; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple familial trichoepithelioma and familial cylindromatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple familial trichoepithelioma and familial cylindromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis, familial; familial mediterranean fever; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis, familial; familial mediterranean fever; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hemiplegic migraine and benign familial infantile convulsions Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hemiplegic migraine and benign familial infantile convulsions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Sleep Deprivation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Deprivation from the curated CTD Gene-Disease Associations dataset. |
Sleep Apnea, Obstructive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Apnea, Obstructive from the curated CTD Gene-Disease Associations dataset. |
Sleep Apnea Syndromes Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Apnea Syndromes from the curated CTD Gene-Disease Associations dataset. |
Sleep Initiation and Maintenance Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset. |
REM Sleep Behavior Disorder Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease REM Sleep Behavior Disorder from the curated CTD Gene-Disease Associations dataset. |
Sleep Bruxism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Bruxism from the curated CTD Gene-Disease Associations dataset. |
Sleep Disorders, Circadian Rhythm Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Disorders, Circadian Rhythm from the curated CTD Gene-Disease Associations dataset. |
Sleep Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sleep Disorders from the curated CTD Gene-Disease Associations dataset. |
Sleep Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Sleep in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
sleep disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease sleep disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
sleep disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease sleep disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
sleep disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sleep disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
central sleep apnea Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease central sleep apnea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sleep apnea Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sleep apnea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hypertension; inflammation; obesity; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; inflammation; obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bedwetting; constipation; diurnal enuresis; nocturnal enuresis; sleep arousal disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bedwetting; constipation; diurnal enuresis; nocturnal enuresis; sleep arousal disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep duration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep duration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep deprivation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep deprivation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep disorders, circadian rhythm Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep disorders, circadian rhythm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinson's disease; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinson's disease; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep disorders; body mass Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep disorders; body mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; sleep initiation and maintenance disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; sleep initiation and maintenance disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain injuries; fatigue; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain injuries; fatigue; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep initiation and maintenance disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep initiation and maintenance disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypertension; sleep apnea, obstructive; snoring Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypertension; sleep apnea, obstructive; snoring in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hot flashes; osteoporosis, postmenopausal; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hot flashes; osteoporosis, postmenopausal; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep-disordered breathing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep-disordered breathing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep disorders; depressive disorder, major Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep disorders; depressive disorder, major in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep disorders; schizophrenia; body mass Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep disorders; schizophrenia; body mass in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; blood pressure, arterial; sleep apnea Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; blood pressure, arterial; sleep apnea in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
memory disorders; sleep apnea syndromes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease memory disorders; sleep apnea syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fatigue; neoplasms; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue; neoplasms; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
total energy intake and cytokine sleep factors Gene SetFrom GAD Gene-Disease Associations genes associated with the disease total energy intake and cytokine sleep factors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep apnea syndromes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep apnea syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep apnea Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep apnea in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep disorders; body mass; blood pressure, arterial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease sleep disorders; body mass; blood pressure, arterial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; hyperlipidemias; hypertension; obesity; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; hyperlipidemias; hypertension; obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholism; sleep disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholism; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
obesity; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease obesity; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hypercapnic respiratory failure; hypoventilation; sleep apnea, central Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hypercapnic respiratory failure; hypoventilation; sleep apnea, central in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adhd; sleep Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adhd; sleep in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
myocardial infarction; sleep apnea, obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease myocardial infarction; sleep apnea, obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; sleep apnea syndromes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; sleep apnea syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
sleep Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term sleep in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Obstructive sleep apnea_Hepatic Tissue_GSE1873 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Obstructive sleep apnea_Hepatic Tissue_GSE1873 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
regulation of circadian sleep/wake cycle, wakefulness Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of circadian sleep/wake cycle, wakefulness biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of circadian sleep/wake cycle, wakefulness Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of circadian sleep/wake cycle, wakefulness biological process from the curated GO Biological Process Annotations 2015 dataset. |
circadian sleep/wake cycle process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the circadian sleep/wake cycle process biological process from the curated GO Biological Process Annotations 2015 dataset. |
sleep Gene SetFrom GO Biological Process Annotations 2015 genes participating in the sleep biological process from the curated GO Biological Process Annotations 2015 dataset. |
circadian sleep/wake cycle Gene SetFrom GO Biological Process Annotations 2015 genes participating in the circadian sleep/wake cycle biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of circadian sleep/wake cycle Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of circadian sleep/wake cycle biological process from the curated GO Biological Process Annotations 2015 dataset. |
Sleep time Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Sleep time phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Sleep depth Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Sleep depth phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Sleep quality Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Sleep quality phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Sleep-related phenotypes Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Sleep-related phenotypes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Sleep duration Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Hypertension risk in short sleep duration Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
sleep disorder Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease sleep disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
sleep-wake cycle disturbance Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the sleep-wake cycle disturbance phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
sleep disturbance Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the sleep disturbance phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
obstructive sleep apnea Gene SetFrom HPO Gene-Disease Associations genes associated with the obstructive sleep apnea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sleep-wake cycle disturbance Gene SetFrom HPO Gene-Disease Associations genes associated with the sleep-wake cycle disturbance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sleep disturbance Gene SetFrom HPO Gene-Disease Associations genes associated with the sleep disturbance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sleep apnea Gene SetFrom HPO Gene-Disease Associations genes associated with the sleep apnea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal rapid eye movement (rem) sleep Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal rapid eye movement (rem) sleep phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Sleep Disorders, Circadian Rhythm Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Disorders, Circadian Rhythm phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Deprivation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Deprivation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Arousal Disorders Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Arousal Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Apnea, Obstructive Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Apnea, Obstructive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Apnea Syndromes Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Apnea Syndromes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Apnea, Central Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Apnea, Central phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Initiation and Maintenance Disorders Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Initiation and Maintenance Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
REM Sleep Behavior Disorder Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the REM Sleep Behavior Disorder phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Bruxism Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Bruxism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep, REM Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep, REM phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Stages Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Stages phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Disorders, Intrinsic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Disorders, Intrinsic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Disorders Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Sleep Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Sleep phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abnormal non-rapid eye movement sleep pattern Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal non-rapid eye movement sleep pattern phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal sleep pattern Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal sleep pattern phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased frequency of paradoxical sleep Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased frequency of paradoxical sleep phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal paradoxical sleep pattern Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal paradoxical sleep pattern phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal sleep behavior Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal sleep behavior phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased frequency of paradoxical sleep Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased frequency of paradoxical sleep phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal frequency of paradoxical sleep Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal frequency of paradoxical sleep phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
fragmentation of sleep/wake states Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the fragmentation of sleep/wake states phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
[respiratory rhythmicity in sleep] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [respiratory rhythmicity in sleep] phenotype from the curated OMIM Gene-Disease Associations dataset. |
Non-24 Hour Sleep-Wake Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Non-24 Hour Sleep-Wake Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonorganic Sleep Wake Cycle Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonorganic Sleep Wake Cycle Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Shift-Work Sleep Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Shift-Work Sleep Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep Bruxism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep Bruxism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep-Disordered Breathing Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep-Disordered Breathing in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep Initiation And Maintenance Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep Initiation And Maintenance Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep Initiation Dysfunction Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep Initiation Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Obstructive Sleep Apnea Hypopnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Obstructive Sleep Apnea Hypopnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rem Sleep Behavior Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rem Sleep Behavior Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Continuous Spike And Waves During Slow Sleep Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Continuous Spike And Waves During Slow Sleep in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep-Related Respiratory Failure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep-Related Respiratory Failure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep Paralysis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Pediatric Obstructive Sleep Apnea Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Pediatric Obstructive Sleep Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sudden Onset Of Sleep Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sudden Onset Of Sleep in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep Attack Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep Attack in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adjustment Sleep Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adjustment Sleep Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Environmental Sleep Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Environmental Sleep Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Limit-Setting Sleep Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Limit-Setting Sleep Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep Disorders, Extrinsic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep Disorders, Extrinsic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sleep-Related Painful Erections Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sleep-Related Painful Erections in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duration Of Sleep Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Duration Of Sleep in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep Disturbances Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep Disturbances in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
[D]Sleep Disturbances (& [Hypersomnia] Or [Insomnia]) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype [D]Sleep Disturbances (& [Hypersomnia] Or [Insomnia]) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep-Wake Cycle Disturbance Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep-Wake Cycle Disturbance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep Deprivation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep Deprivation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Rem Sleep Deprivation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Rem Sleep Deprivation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep-Related Neurogenic Tachypnea Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep-Related Neurogenic Tachypnea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep Onset Latency Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep Onset Latency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Rapid Eye Movement Sleep Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Rapid Eye Movement Sleep in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fragmented Sleep Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fragmented Sleep in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Restless Sleep Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restless Sleep in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep Onset Insomnia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep Onset Insomnia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Non-Organic Sleep Disorder Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Non-Organic Sleep Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep Fragmentation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep Fragmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sleep-Wake Inversion Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sleep-Wake Inversion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
regulation of circadian sleep/wake cycle, wakefulness Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of circadian sleep/wake cycle, wakefulness biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of circadian sleep/wake cycle, wakefulness Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of circadian sleep/wake cycle, wakefulness biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of circadian sleep/wake cycle Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of circadian sleep/wake cycle biological process from the curated GO Biological Process Annotations 2023 dataset. |
abnormal sleep pattern Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sleep pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sleep duration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sleep duration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal circadian sleep/wake cycle Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal circadian sleep/wake cycle phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal paradoxical sleep pattern Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal paradoxical sleep pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal non-rapid eye movement sleep pattern Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal non-rapid eye movement sleep pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal frequency of paradoxical sleep Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal frequency of paradoxical sleep phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
fragmentation of sleep/wake states Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the fragmentation of sleep/wake states phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sleep behavior Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal sleep behavior phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased frequency of paradoxical sleep Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased frequency of paradoxical sleep phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased frequency of paradoxical sleep Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased frequency of paradoxical sleep phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased slow-wave sleep duration Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased slow-wave sleep duration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal slow-wave sleep pattern Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal slow-wave sleep pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal sleep behavior Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal sleep behavior phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Sleep regulation Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Sleep regulation pathway from the WikiPathways Pathways 2024 dataset. |
regulation of circadian sleep/wake cycle, wakefulness Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of circadian sleep/wake cycle, wakefulness biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of circadian sleep/wake cycle, wakefulness Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of circadian sleep/wake cycle, wakefulness biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of circadian sleep/wake cycle Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of circadian sleep/wake cycle biological process from the curated GO Biological Process Annotations 2025 dataset. |
Sleep disorder Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Sleep disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Sleep disorder Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Sleep disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sleep apnea Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Sleep apnea in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Obstructive sleep apnea Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Obstructive sleep apnea in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sleep disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sleep disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sleep apnea Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sleep apnea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Obstructive sleep apnea Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Obstructive sleep apnea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
REM sleep behavior disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease REM sleep behavior disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Central sleep apnea Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Central sleep apnea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mixed sleep apnea Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Mixed sleep apnea in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sleep apnea Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sleep apnea phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Continuous spike and waves during slow sleep Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Continuous spike and waves during slow sleep phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sleep duration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep traits (multi-trait analysis) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep traits (multi-trait analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep duration (oversleepers vs undersleepers) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep duration (oversleepers vs undersleepers) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obstructive sleep apnea trait (apnea hypopnea index) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obstructive sleep apnea trait (apnea hypopnea index) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obstructive sleep apnea trait (average respiratory event duration) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obstructive sleep apnea trait (average respiratory event duration) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Night sleep phenotypes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Night sleep phenotypes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Daytime sleep phenotypes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Daytime sleep phenotypes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
LDL cholesterol levels x short total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the LDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
LDL cholesterol levels x long total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the LDL cholesterol levels x long total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Triglyceride levels x long total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Triglyceride levels x long total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HDL cholesterol levels x short total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Triglyceride levels x short total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Triglyceride levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HDL cholesterol levels x long total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HDL cholesterol levels x long total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Triglyceride levels x short total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Triglyceride levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HDL cholesterol levels x short total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
LDL cholesterol levels x long total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the LDL cholesterol levels x long total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
LDL cholesterol levels x short total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the LDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep duration (> 10 hours) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep duration (> 10 hours) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep (1/2-day periodicity) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep (1/2-day periodicity) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep start time Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep start time phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep (1/3-day periodicity) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep (1/3-day periodicity) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep end time Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep end time phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep (1-day periodicity) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep (1-day periodicity) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep activity levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep activity levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HDL cholesterol levels x long total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HDL cholesterol levels x long total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obstructive sleep apnea Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obstructive sleep apnea phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Obstructive sleep apnea (BMI adjusted) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Obstructive sleep apnea (BMI adjusted) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep-related phenotypes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep-related phenotypes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep time Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep time phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep quality Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep quality phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypertension risk in short sleep duration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep latency Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep latency phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Depressive symptom (sleep problems) (binary trait) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Depressive symptom (sleep problems) (binary trait) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep (number of episodes) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep (number of episodes) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Episodic pain syndrome, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic pain syndrome, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial multiple polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary cancer-predisposing syndrome:Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
Familial antiphospholipid syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial antiphospholipid syndrome from the curated CTD Gene-Disease Associations dataset. |
Familial Cold Autoinflammatory Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Cold Autoinflammatory Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
familial nephrotic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial nephrotic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; hyperlipidemia, familial combined; metabolic syndrome x; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
creutzfeldt-jakob disease; creutzfeldt-jakob syndrome; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease creutzfeldt-jakob disease; creutzfeldt-jakob syndrome; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; hyper-igd syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; hyper-igd syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial cold-induced inflammatory syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the familial cold-induced inflammatory syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
carpal tunnel syndrome, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the carpal tunnel syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic pain syndrome, familial, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic pain syndrome, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic pain syndrome, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic pain syndrome, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
episodic pain syndrome, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the episodic pain syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutaneous telangiectasia and cancer syndrome, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
?familial cold autoinflammatory syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?familial cold autoinflammatory syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?antiphospholipid syndrome, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?antiphospholipid syndrome, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
familial cold autoinflammatory syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the familial cold autoinflammatory syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
familial cold autoinflammatory syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the familial cold autoinflammatory syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Familial Atypical Mole Melanoma Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Atypical Mole Melanoma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Sick Sinus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Sick Sinus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Guillain-Barre Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Guillain-Barre Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Telangiectasia And Cancer Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Telangiectasia And Cancer Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Hemolytic Uremic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Hemolytic Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Atypical Hemolytic Uremic Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Atypical Hemolytic Uremic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Charge Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Charge Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Multiple Factor Deficiency Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Multiple Factor Deficiency Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Antiphospholipid Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Antiphospholipid Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy-Walker Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoinflammatory Syndrome, Familial, Behcet-Like Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoinflammatory Syndrome, Familial, Behcet-Like in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Myelocytic Leukemia-Like Syndrome, Familial, Chronic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Cold Autoinflammatory Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Cold Autoinflammatory Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Carpal Tunnel Syndrome, Familial Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Carpal Tunnel Syndrome, Familial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Scaphocephaly Syndrome Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Familial Scaphocephaly Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Familial cold autoinflammatory syndrome 3 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial cold autoinflammatory syndrome 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial cold autoinflammatory syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial cold autoinflammatory syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial chylomicronemia syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial chylomicronemia syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial nephrotic syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Familial nephrotic syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Familial chylomicronemia syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial chylomicronemia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial nephrotic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial nephrotic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial woolly hair syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial woolly hair syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial cold autoinflammatory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial Behcet-like autoinflammatory syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial Behcet-like autoinflammatory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial episodic pain syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial episodic pain syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial cold autoinflammatory syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial cold autoinflammatory syndrome 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial cold autoinflammatory syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial episodic pain syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial episodic pain syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial cold autoinflammatory syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial cold autoinflammatory syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial episodic pain syndrome 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial episodic pain syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial episodic pain syndrome 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Familial episodic pain syndrome 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Familial multiple polyposis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial multiple polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial idiopathic steroid-resistant nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial idiopathic steroid-resistant nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial cold autoinflammatory syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial cold autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial scaphocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial scaphocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial cardiofaciocutaneous syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial cardiofaciocutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial Atypical Hemolytic-Uremic Syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial Atypical Hemolytic-Uremic Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial episodic pain syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial episodic pain syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial steroid-resistant nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial steroid-resistant nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial sick sinus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial sick sinus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lynch syndrome:Lynch syndrome:Lynch syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Familial Mediterranean fever Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial Mediterranean fever phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombocytosis, benign familial microcytic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombocytosis, benign familial microcytic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal-infantile seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neurofibromatosis, familial spinal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neurofibromatosis, familial spinal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tumoral calcinosis, familial, hyperphosphatemic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tumoral calcinosis, familial, hyperphosphatemic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Febrile seizures, familial, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial restrictive cardiomyopathy 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial restrictive cardiomyopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaze palsy, familial horizontal, with progressive scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaze palsy, familial horizontal, with progressive scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hemiplegic migraine type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hemiplegic migraine type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hemiplegic migraine type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hemiplegic migraine type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocytosis, familial, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocytosis, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocytosis, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocytosis, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocytosis, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic aneurysm, familial thoracic 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial X-linked hypophosphatemic vitamin D refractory rickets Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial X-linked hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Infantile convulsions and paroxysmal choreoathetosis, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial neonatal seizures 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial neonatal seizures 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperuricemic nephropathy, familial juvenile, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperuricemic nephropathy, familial juvenile, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial cancer of breast Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial cancer of breast phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial benign pemphigus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial benign pemphigus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperpigmentation, familial progressive, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperpigmentation, familial progressive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial aortopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial aortopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digital arthropathy-brachydactyly, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digital arthropathy-brachydactyly, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Febrile seizures, familial, 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial benign hypercalcemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial benign hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial visceral amyloidosis, Ostertag type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial visceral amyloidosis, Ostertag type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dementia familial British Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dementia familial British phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene SetFrom 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. |
Familial porencephaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial porencephaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalciuric hypercalcemia, familial, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
familial hyperinsulinism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the familial hyperinsulinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinemic hypoglycemia familial 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinemic hypoglycemia familial 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Febrile seizures, familial, 3b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Febrile seizures, familial, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Paroxysmal familial ventricular fibrillation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Paroxysmal familial ventricular fibrillation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypercholesterolemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypercholesterolemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hidradenitis suppurativa, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hidradenitis suppurativa, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dementia, familial Danish Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dementia, familial Danish phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial intrahepatic cholestasis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial intrahepatic cholestasis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Benign familial hematuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Benign familial hematuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial heart block type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial heart block type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial heart block type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial dysautonomia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial dysautonomia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial febrile seizures 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial febrile seizures 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fleck retina, familial benign Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fleck retina, familial benign phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked familial exudative vitreoretinopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked familial exudative vitreoretinopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial colorectal cancer Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial colorectal cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial porphyria cutanea tarda Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial porphyria cutanea tarda phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypertrophic cardiomyopathy 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypertrophic cardiomyopathy 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Progressive familial intrahepatic cholestasis 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Progressive familial intrahepatic cholestasis 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonus, familial cortical Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonus, familial cortical phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Migraine, familial basilar Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Migraine, familial basilar phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Breast-ovarian cancer, familial 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Breast-ovarian cancer, familial 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercholanemia, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercholanemia, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bone marrow failure, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bone marrow failure, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic aneurysm, familial thoracic 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Candidiasis, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Candidiasis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Candidiasis, familial, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Candidiasis, familial, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypokalemia-hypomagnesemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypokalemia-hypomagnesemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenia, limb-girdle, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenia, limb-girdle, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemophagocytic lymphohistiocytosis, familial, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemophagocytic lymphohistiocytosis, familial, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemophagocytic lymphohistiocytosis, familial, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemophagocytic lymphohistiocytosis, familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemophagocytic lymphohistiocytosis, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ventricular fibrillation, paroxysmal familial, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ventricular fibrillation, paroxysmal familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial platelet disorder with associated myeloid malignancy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial platelet disorder with associated myeloid malignancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial erythrocytosis, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial erythrocytosis, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial medullary thyroid carcinoma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial medullary thyroid carcinoma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperinsulinemic hypoglycemia, familial, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperinsulinemic hypoglycemia, familial, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic aneurysm, familial thoracic 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic aneurysm, familial thoracic 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic aneurysm, familial thoracic 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aortic aneurysm, familial thoracic 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperlipidemia, familial combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperlipidemia, familial combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial amyloid polyneuropathy, Iowa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial amyloid polyneuropathy, Iowa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial encephalopathy with neuroserpin inclusion bodies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Epilepsy, familial adult myoclonic, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Epilepsy, familial adult myoclonic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial myxoma, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial myxoma, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, familial partial, type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, familial partial, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, familial partial, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, familial partial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalciuric hypercalcemia, familial, type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypocalciuric hypercalcemia, familial, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypocalciuric hypercalcemia, familial, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial juvenile gout Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial juvenile gout phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cardiomyopathy:Familial hypertrophic cardiomyopathy 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cardiomyopathy:Familial hypertrophic cardiomyopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypobetalipoproteinemia, familial, associated with apob32 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypobetalipoproteinemia, familial, associated with apob32 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Breast-ovarian cancer, familial 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Breast-ovarian cancer, familial 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Atrial fibrillation, familial, 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Atrial fibrillation, familial, 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Primary familial hypertrophic cardiomyopathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Primary familial hypertrophic cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial type 3 hyperlipoproteinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial type 3 hyperlipoproteinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tumoral calcinosis, familial, normophosphatemic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Tumoral calcinosis, familial, normophosphatemic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd8 deficiency, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial infantile myasthenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked familial atypical mycobacteriosis, type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked familial atypical mycobacteriosis, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperthyroxinemia, familial dysalbuminemic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperthyroxinemia, familial dysalbuminemic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial type 5 hyperlipoproteinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial type 5 hyperlipoproteinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial renal glucosuria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial renal glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial pulmonary capillary hemangiomatosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial pulmonary capillary hemangiomatosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypoalphalipoproteinemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypoalphalipoproteinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial renal hypouricemia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial renal hypouricemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HYPERALDOSTERONISM, FAMILIAL, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HYPERALDOSTERONISM, FAMILIAL, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myoclonic epilepsy, familial infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial hypoplastic, glomerulocystic kidney Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial hypoplastic, glomerulocystic kidney phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Familial cold urticaria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Familial cold urticaria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aortic Aneurysm, Familial Abdominal 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 2 from the curated CTD Gene-Disease Associations dataset. |
Familial myelofibrosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial myelofibrosis from the curated CTD Gene-Disease Associations dataset. |
Nephronophthisis, familial juvenile Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephronophthisis, familial juvenile from the curated CTD Gene-Disease Associations dataset. |
Eosinophilia, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Eosinophilia, Familial from the curated CTD Gene-Disease Associations dataset. |
Hyperlipidemia, Familial Combined Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperlipidemia, Familial Combined from the curated CTD Gene-Disease Associations dataset. |
Platelet Disorder, Familial, with Associated Myeloid Malignancy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Disorder, Familial, with Associated Myeloid Malignancy from the curated CTD Gene-Disease Associations dataset. |
Hyperinsulinemic hypoglycemia, familial, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic hypoglycemia, familial, 6 from the curated CTD Gene-Disease Associations dataset. |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset. |
Pemphigus, Benign Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pemphigus, Benign Familial from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Restrictive, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Restrictive, 1 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 9 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 8 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 2 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 6 from the curated CTD Gene-Disease Associations dataset. |
Amyloidosis, familial visceral Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyloidosis, familial visceral from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Hypertrophic, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Hypertrophic, Familial from the curated CTD Gene-Disease Associations dataset. |
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaze Palsy, Familial Horizontal, with Progressive Scoliosis from the curated CTD Gene-Disease Associations dataset. |
Atrial Fibrillation, Familial, 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 8 from the curated CTD Gene-Disease Associations dataset. |
Atrial Fibrillation, Familial, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 7 from the curated CTD Gene-Disease Associations dataset. |
Atrial Fibrillation, Familial, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 6 from the curated CTD Gene-Disease Associations dataset. |
Atrial Fibrillation, Familial, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 4 from the curated CTD Gene-Disease Associations dataset. |
Cholestasis, progressive familial intrahepatic 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 1 from the curated CTD Gene-Disease Associations dataset. |
Cholestasis, progressive familial intrahepatic 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 2 from the curated CTD Gene-Disease Associations dataset. |
Myasthenia, Familial Infantile, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenia, Familial Infantile, 1 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 4 from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Familial Abdominal 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 1 from the curated CTD Gene-Disease Associations dataset. |
STUTTERING, FAMILIAL PERSISTENT, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease STUTTERING, FAMILIAL PERSISTENT, 1 from the curated CTD Gene-Disease Associations dataset. |
Dementia, familial British Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dementia, familial British from the curated CTD Gene-Disease Associations dataset. |
Candidiasis familial chronic mucocutaneous, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Gliosis, Familial Progressive Subcortical Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gliosis, Familial Progressive Subcortical from the curated CTD Gene-Disease Associations dataset. |
CD8 Deficiency, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset. |
Insomnia, Fatal Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Insomnia, Fatal Familial from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 2 from the curated CTD Gene-Disease Associations dataset. |
Familial HDL deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial dermographism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial dermographism from the curated CTD Gene-Disease Associations dataset. |
Candidiasis, Familial, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis, Familial, 3 from the curated CTD Gene-Disease Associations dataset. |
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE from the curated CTD Gene-Disease Associations dataset. |
Erythrocytosis, Familial, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocytosis, Familial, 3 from the curated CTD Gene-Disease Associations dataset. |
Erythrocytosis, Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocytosis, Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Visceral Myopathy, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Visceral Myopathy, Familial from the curated CTD Gene-Disease Associations dataset. |
Hyperthyroidism, Familial Gestational Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperthyroidism, Familial Gestational from the curated CTD Gene-Disease Associations dataset. |
Hematuria, Benign Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hematuria, Benign Familial from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset. |
Febrile Convulsions, Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Migraine, Familial Hemiplegic, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Migraine, Familial Hemiplegic, 3 from the curated CTD Gene-Disease Associations dataset. |
Cancer, Familial, with In Vitro Radioresistance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cancer, Familial, with In Vitro Radioresistance from the curated CTD Gene-Disease Associations dataset. |
Febrile Convulsions, Familial, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 5 from the curated CTD Gene-Disease Associations dataset. |
Hypoparathyroidism familial isolated Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypoparathyroidism familial isolated from the curated CTD Gene-Disease Associations dataset. |
Tumoral Calcinosis, Hyperphosphatemic, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tumoral Calcinosis, Hyperphosphatemic, Familial from the curated CTD Gene-Disease Associations dataset. |
Atrial Fibrillation, Familial, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 3 from the curated CTD Gene-Disease Associations dataset. |
Hidradenitis suppurativa, familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hidradenitis suppurativa, familial from the curated CTD Gene-Disease Associations dataset. |
Dementia, familial Danish Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dementia, familial Danish from the curated CTD Gene-Disease Associations dataset. |
Familial medullary thyroid carcinoma Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial medullary thyroid carcinoma from the curated CTD Gene-Disease Associations dataset. |
Interstitial Pneumonitis, Desquamative, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Interstitial Pneumonitis, Desquamative, Familial from the curated CTD Gene-Disease Associations dataset. |
Hemophagocytic lymphohistiocytosis, familial, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemophagocytic lymphohistiocytosis, familial, 4 from the curated CTD Gene-Disease Associations dataset. |
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset. |
Cirrhosis, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cirrhosis, Familial from the curated CTD Gene-Disease Associations dataset. |
Familial encephalopathy with neuroserpin inclusion bodies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial encephalopathy with neuroserpin inclusion bodies from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Familial Partial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Familial Partial from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Restrictive, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Restrictive, 3 from the curated CTD Gene-Disease Associations dataset. |
Familial Mediterranean Fever, Autosomal Dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Mediterranean Fever, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset. |
Familial Hypophosphatemic Rickets Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Hypophosphatemic Rickets from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 3 from the curated CTD Gene-Disease Associations dataset. |
Keratoacanthoma familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Keratoacanthoma familial from the curated CTD Gene-Disease Associations dataset. |
Hepatic Adenomas, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hepatic Adenomas, Familial from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 10 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 13 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 15 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 15 from the curated CTD Gene-Disease Associations dataset. |
Familial Wilms tumor 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Wilms tumor 2 from the curated CTD Gene-Disease Associations dataset. |
Candidiasis, Familial, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis, Familial, 1 from the curated CTD Gene-Disease Associations dataset. |
Febrile Convulsions, Familial, 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 9 from the curated CTD Gene-Disease Associations dataset. |
Hyperinsulinemic Hypoglycemia, Familial, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic Hypoglycemia, Familial, 4 from the curated CTD Gene-Disease Associations dataset. |
Hyperinsulinemic Hypoglycemia, Familial, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic Hypoglycemia, Familial, 5 from the curated CTD Gene-Disease Associations dataset. |
Amyloidosis, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyloidosis, Familial from the curated CTD Gene-Disease Associations dataset. |
Familial paroxysmal dystonia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial paroxysmal dystonia from the curated CTD Gene-Disease Associations dataset. |
Atrial fibrillation, familial 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial fibrillation, familial 1 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 3 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset. |
Hypercholanemia, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypercholanemia, Familial from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Hyperbilirubinemia, Transient Familial Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperbilirubinemia, Transient Familial Neonatal from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 2 from the curated CTD Gene-Disease Associations dataset. |
Meningioma, familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Meningioma, familial from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Familial Thoracic 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Thoracic 6 from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Familial Thoracic 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Thoracic 2 from the curated CTD Gene-Disease Associations dataset. |
Dysautonomia, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dysautonomia, Familial from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 1 from the curated CTD Gene-Disease Associations dataset. |
Hemophagocytic lymphohistiocytosis, familial, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemophagocytic lymphohistiocytosis, familial, 3 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Familial Adult Myoclonic, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Familial Adult Myoclonic, 3 from the curated CTD Gene-Disease Associations dataset. |
Prostate cancer, familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prostate cancer, familial from the curated CTD Gene-Disease Associations dataset. |
Convulsions, Benign Familial Infantile, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Convulsions, Benign Familial Infantile, 4 from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Familial Thoracic 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Thoracic 1 from the curated CTD Gene-Disease Associations dataset. |
Erythrocytosis, Familial, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Erythrocytosis, Familial, 4 from the curated CTD Gene-Disease Associations dataset. |
Hyperinsulinemic hypoglycemia, familial, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic hypoglycemia, familial, 3 from the curated CTD Gene-Disease Associations dataset. |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset. |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 from the curated CTD Gene-Disease Associations dataset. |
Hyperinsulinemic hypoglycemia, familial, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperinsulinemic hypoglycemia, familial, 7 from the curated CTD Gene-Disease Associations dataset. |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset. |
Hyperthyroxinemia, Familial Dysalbuminemic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperthyroxinemia, Familial Dysalbuminemic from the curated CTD Gene-Disease Associations dataset. |
Aortic aneurysm, familial thoracic 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic aneurysm, familial thoracic 4 from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Restrictive, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Restrictive, 2 from the curated CTD Gene-Disease Associations dataset. |
Atrial Fibrillation, Familial, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 5 from the curated CTD Gene-Disease Associations dataset. |
Familial cylindromatosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial cylindromatosis from the curated CTD Gene-Disease Associations dataset. |
Familial benign hypercalcemia, type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial benign hypercalcemia, type 3 from the curated CTD Gene-Disease Associations dataset. |
Hyperaldosteronism, Familial, Type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperaldosteronism, Familial, Type II from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 11 from the curated CTD Gene-Disease Associations dataset. |
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease Associations dataset. |
Atrial myxoma, familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial myxoma, familial from the curated CTD Gene-Disease Associations dataset. |
Familial Glucocorticoid Deficiency 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset. |
Tumoral Calcinosis, Normophosphatemic, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tumoral Calcinosis, Normophosphatemic, Familial from the curated CTD Gene-Disease Associations dataset. |
MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset. |
Hypocalciuric hypercalcemia, familial, type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypocalciuric hypercalcemia, familial, type 1 from the curated CTD Gene-Disease Associations dataset. |
Trichoepithelioma multiple familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trichoepithelioma multiple familial from the curated CTD Gene-Disease Associations dataset. |
Febrile Convulsions, Familial, 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 10 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 from the curated CTD Gene-Disease Associations dataset. |
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 from the curated CTD Gene-Disease Associations dataset. |
Hemophagocytic lymphohistiocytosis, familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemophagocytic lymphohistiocytosis, familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Periodic fever, familial, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Periodic fever, familial, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
VENTRICULAR TACHYCARDIA, FAMILIAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, FAMILIAL from the curated CTD Gene-Disease Associations dataset. |
Hyperuricemic Nephropathy, Familial Juvenile 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperuricemic Nephropathy, Familial Juvenile 2 from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset. |
Hypobetalipoproteinemia, Familial, Apolipoprotein B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypobetalipoproteinemia, Familial, Apolipoprotein B from the curated CTD Gene-Disease Associations dataset. |
Aortic Aneurysm, Familial Abdominal 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aortic Aneurysm, Familial Abdominal 3 from the curated CTD Gene-Disease Associations dataset. |
Familial schizencephaly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial schizencephaly from the curated CTD Gene-Disease Associations dataset. |
Atrial Fibrillation, Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atrial Fibrillation, Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 from the curated CTD Gene-Disease Associations dataset. |
Neurofibromatosis, Familial Spinal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neurofibromatosis, Familial Spinal from the curated CTD Gene-Disease Associations dataset. |
Reticuloendotheliosis, familial, with eosinophilia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Reticuloendotheliosis, familial, with eosinophilia from the curated CTD Gene-Disease Associations dataset. |
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL NEONATAL, 1 from the curated CTD Gene-Disease Associations dataset. |
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MIGRAINE, FAMILIAL HEMIPLEGIC, 2 from the curated CTD Gene-Disease Associations dataset. |
MIGRAINE, FAMILIAL HEMIPLEGIC, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MIGRAINE, FAMILIAL HEMIPLEGIC, 1 from the curated CTD Gene-Disease Associations dataset. |
MITRAL VALVE PROLAPSE, FAMILIAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITRAL VALVE PROLAPSE, FAMILIAL from the curated CTD Gene-Disease Associations dataset. |
Progressive Familial Heart Block, Type Ib Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive Familial Heart Block, Type Ib from the curated CTD Gene-Disease Associations dataset. |
Familial dilated cardiomyopathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial dilated cardiomyopathy from the curated CTD Gene-Disease Associations dataset. |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 from the curated CTD Gene-Disease Associations dataset. |
Cholestasis, progressive familial intrahepatic 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 3 from the curated CTD Gene-Disease Associations dataset. |
Thymoma, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thymoma, Familial from the curated CTD Gene-Disease Associations dataset. |
Atypical Mycobacteriosis, Familial, X-Linked 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Atypical Mycobacteriosis, Familial, X-Linked 1 from the curated CTD Gene-Disease Associations dataset. |
Familial Testotoxicosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Testotoxicosis from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Myoclonic, Benign Adult Familial, Type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Myoclonic, Benign Adult Familial, Type 1 from the curated CTD Gene-Disease Associations dataset. |
Hemiplegic migraine, familial type 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemiplegic migraine, familial type 2 from the curated CTD Gene-Disease Associations dataset. |
Hemiplegic migraine, familial type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hemiplegic migraine, familial type 1 from the curated CTD Gene-Disease Associations dataset. |
Familial apoceruloplasmin deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset. |
HYPERCHOLESTEROLEMIA, FAMILIAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERCHOLESTEROLEMIA, FAMILIAL from the curated CTD Gene-Disease Associations dataset. |
Amyloid Neuropathies, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Amyloid Neuropathies, Familial from the curated CTD Gene-Disease Associations dataset. |
CANDIDIASIS, FAMILIAL, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CANDIDIASIS, FAMILIAL, 2 from the curated CTD Gene-Disease Associations dataset. |
Familial Mediterranean Fever Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial Mediterranean Fever from the curated CTD Gene-Disease Associations dataset. |
Febrile Convulsions, Familial, 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 7 from the curated CTD Gene-Disease Associations dataset. |
Febrile Convulsions, Familial, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 6 from the curated CTD Gene-Disease Associations dataset. |
Febrile Convulsions, Familial, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Febrile Convulsions, Familial, 1 from the curated CTD Gene-Disease Associations dataset. |
Cerebral Amyloid Angiopathy, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral Amyloid Angiopathy, Familial from the curated CTD Gene-Disease Associations dataset. |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 from the curated CTD Gene-Disease Associations dataset. |
Hypobetalipoproteinemia, Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypobetalipoproteinemia, Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Stuttering, Familial Persistent 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Stuttering, Familial Persistent 2 from the curated CTD Gene-Disease Associations dataset. |
Trichoepithelioma, Multiple Familial, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trichoepithelioma, Multiple Familial, 2 from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Familial Temporal Lobe, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Familial Temporal Lobe, 4 from the curated CTD Gene-Disease Associations dataset. |
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOCLONIC EPILEPSY, FAMILIAL INFANTILE from the curated CTD Gene-Disease Associations dataset. |
Cardiomyopathy, Familial Hypertrophic, 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardiomyopathy, Familial Hypertrophic, 14 from the curated CTD Gene-Disease Associations dataset. |
familial mediterranean fever Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial mediterranean fever from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial adenomatous polyposis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial adenomatous polyposis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial hyperlipidemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial hyperlipidemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial hemiplegic migraine Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial hemiplegic migraine from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial atrial fibrillation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial atrial fibrillation from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial juvenile hyperuricemic nephropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial juvenile hyperuricemic nephropathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial lipoprotein lipase deficiency Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial lipoprotein lipase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial periodic paralysis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease familial periodic paralysis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
familial lipoprotein lipase deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial lipoprotein lipase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial hypertriglyceridemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial hypertriglyceridemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign familial infantile epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial melanoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial melanoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial adenomatous polyposis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial adenomatous polyposis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial combined hyperlipidemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial combined hyperlipidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial renal oncocytoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial renal oncocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fatal familial insomnia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fatal familial insomnia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial mediterranean fever Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial mediterranean fever in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial glomangioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial glomangioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial hyperlipidemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial hyperlipidemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial hypercholesterolemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial hypercholesterolemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial periodic paralysis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial periodic paralysis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial meningioma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial meningioma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial juvenile hyperuricemic nephropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial juvenile hyperuricemic nephropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign familial neonatal epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign familial neonatal epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial partial lipodystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial partial lipodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial hemiplegic migraine Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial hemiplegic migraine in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial visceral amyloidosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial visceral amyloidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial atrial fibrillation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial atrial fibrillation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial medullary thyroid carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial medullary thyroid carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial renal papillary carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial renal papillary carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial retinoblastoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease familial retinoblastoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
familial adenomatous polyposis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial adenomatous polyposis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, rheumatoid; familial mediterranean fever; rheumatoid arthritis; rheumatoid spondylitis; spondylitis, ankylosing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, rheumatoid; familial mediterranean fever; rheumatoid arthritis; rheumatoid spondylitis; spondylitis, ankylosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
crohn disease; crohn's disease; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease crohn disease; crohn's disease; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperlipidemia, familial combined Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; spondylitis, ankylosing Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; spondylitis, ankylosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild familial hypercholesterolemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild familial hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial atypical progressive supranuclear palsy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial atypical progressive supranuclear palsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperlipidemia, familial combined; insulin resistance; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial or sporadic prostate cancer. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial or sporadic prostate cancer. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial distal renal tubular acidosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial distal renal tubular acidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdominal pain; amyloidosis; arthritis; familial mediterranean fever; fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdominal pain; amyloidosis; arthritis; familial mediterranean fever; fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hypercholesterolemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial defective apolipoprotein b100. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial defective apolipoprotein b100. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
asthma; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease asthma; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hypercholesterolaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hypercholesterolaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; henoch-schoenlein purpura; purpura, schoenlein-henoch Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; henoch-schoenlein purpura; purpura, schoenlein-henoch in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis, familial; cerebral hemorrhage; cerebral hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis, familial; cerebral hemorrhage; cerebral hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; glomerulonephritis, iga; iga glomerulonephritides Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; glomerulonephritis, iga; iga glomerulonephritides in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloid neuropathies; amyloid neuropathies, familial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloid neuropathies; amyloid neuropathies, familial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
early-onset familial alzheimer's disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease early-onset familial alzheimer's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic, familial; hypertrophy, left ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic, familial; hypertrophy, left ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, juvenile rheumatoid; arthritis, psoriatic; familial mediterranean fever; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, juvenile rheumatoid; arthritis, psoriatic; familial mediterranean fever; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abdomen, acute; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abdomen, acute; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
coronary artery disease; hyperlipidemia, familial combined Gene SetFrom GAD Gene-Disease Associations genes associated with the disease coronary artery disease; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial dysbetalipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial dysbetalipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial defective apolipoprotein b Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial defective apolipoprotein b in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial amyloid polyneuropathy. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial amyloid polyneuropathy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
parkinson's disease (familial) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease parkinson's disease (familial) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mild familial hypercholesterolaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mild familial hypercholesterolaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial combined hyperlipidemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial combined hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
endogenous hypertriglyceridemia and familial hypercholesterolemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease endogenous hypertriglyceridemia and familial hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial type 3 hyperlipoproteinaemia; hyperlipoproteinemia type iii Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial type 3 hyperlipoproteinaemia; hyperlipoproteinemia type iii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial age-related macular degeneration Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial age-related macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial premature myocardial infarction. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial premature myocardial infarction. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
late onset of familial adenomatous polyposis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease late onset of familial adenomatous polyposis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial amyloidotic polyneuropathy. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial amyloidotic polyneuropathy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloid neuropathies, familial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloid neuropathies, familial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic fibrosis; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic fibrosis; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperlipidemia, familial combined; mixed hyperlipidemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
colitis, ulcerative; crohn disease; familial mediterranean fever; inflammatory bowel diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease colitis, ulcerative; crohn disease; familial mediterranean fever; inflammatory bowel diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial defective apolipoprotein b-100 in a chinese man Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial defective apolipoprotein b-100 in a chinese man in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; familial mediterranean fever; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; familial mediterranean fever; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
premature coronary artery disease and familial hypoalphalipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease premature coronary artery disease and familial hypoalphalipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; familial mediterranean fever; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; familial mediterranean fever; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial male-limited precocious puberty. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial male-limited precocious puberty. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial combined hyperlipidaemia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial combined hyperlipidaemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; familial mediterranean fever; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; familial mediterranean fever; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fam hyperbetalipoproteinaemia; hyperlipidemia, familial combined; hyperlipoproteinemia type ii; hypertriglyceridemia; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cryopyrin-associated periodic syndromes; familial mediterranean fever; mevalonate kinase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial early onset psoriasis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial early onset psoriasis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hypobetalipoproteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hypobetalipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial amyotrophic lateral sclerosis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial amyotrophic lateral sclerosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial amyloid polyneuropathy in a hungarian family. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial amyloid polyneuropathy in a hungarian family. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial melanoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial melanoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic, familial; hypertrophy, left ventricular; ventricular dysfunction, left Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic, familial; hypertrophy, left ventricular; ventricular dysfunction, left in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rapidly progressive familial amyotrophic lateral sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rapidly progressive familial amyotrophic lateral sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial amyotrophic lateral sclerosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial amyotrophic lateral sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, juvenile rheumatoid; familial mediterranean fever; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, juvenile rheumatoid; familial mediterranean fever; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; coronary artery disease; hyperlipidemia, familial combined; mixed hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hypocalciuric hypercalcemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hypocalciuric hypercalcemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial adenomatous polyposis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial adenomatous polyposis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hyperinsulinism. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hyperinsulinism. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial glucocorticoid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial glucocorticoid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
late onset familial adenomatous polyposis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease late onset familial adenomatous polyposis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial amyloid polyneuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial amyloid polyneuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hypercholesterolemia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hypercholesterolemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial partial lipodystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial partial lipodystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial amyloidotic polyneuropathy type 1 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial amyloidotic polyneuropathy type 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; infertility, male Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; infertility, male in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial liver adenomatosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial liver adenomatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diarrhea; familial mediterranean fever; pain; stomatitis, aphthous Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diarrhea; familial mediterranean fever; pain; stomatitis, aphthous in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
breast cancer, familial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease breast cancer, familial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; hyperlipidemia, familial combined Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hypertrophic cardiomyopathy. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hypertrophic cardiomyopathy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial cataract Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial cataract in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloid neuropathies, familial; constipation; diarrhea; gastrointestinal diseases; nausea; vomiting Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloid neuropathies, familial; constipation; diarrhea; gastrointestinal diseases; nausea; vomiting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; arthritis, rheumatoid; familial mediterranean fever; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; arthritis, rheumatoid; familial mediterranean fever; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood pressure; hyperlipidemia, familial combined Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood pressure; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; atherosclerosis; familial mediterranean fever; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; atherosclerosis; familial mediterranean fever; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
creutzfeldt-jakob disease; gerstmann-straussler-scheinker disease; insomnia, fatal familial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease creutzfeldt-jakob disease; gerstmann-straussler-scheinker disease; insomnia, fatal familial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial exudative vitreoretinopathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial exudative vitreoretinopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy, hypertrophic, familial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy, hypertrophic, familial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
amyloidosis; arthritis, rheumatoid; familial mediterranean fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease amyloidosis; arthritis, rheumatoid; familial mediterranean fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial dysautonomia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial dysautonomia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial alzheimer's disease associated Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial alzheimer's disease associated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis Gene SetFrom 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. |
greenland familial cholestasis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease greenland familial cholestasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial diabetes insipidus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial diabetes insipidus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial erythrocytosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial erythrocytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial bronchiectasis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial bronchiectasis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arthritis, juvenile rheumatoid; chronic childhood arthritis; familial mediterranean fever; inflammation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arthritis, juvenile rheumatoid; chronic childhood arthritis; familial mediterranean fever; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial non-ret c cell hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial non-ret c cell hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial hypertension of early onset. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial hypertension of early onset. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiovascular diseases; hyperlipidemia, familial combined Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiovascular diseases; hyperlipidemia, familial combined in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial mediterranean fever; fever Gene SetFrom GAD Gene-Disease Associations genes associated with the disease familial mediterranean fever; fever in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
familial Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term familial in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Familial combined hyperlipidaemia_Blood monocyte_GSE11393 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Familial combined hyperlipidaemia_Blood monocyte_GSE11393 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Familial combined hyperlipidaemia_lymphoblast_GSE1010 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Familial combined hyperlipidaemia_lymphoblast_GSE1010 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Familial hypophosphataemic rickets_Renal Tissue_GSE868 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Familial hypophosphataemic rickets_Renal Tissue_GSE868 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Parkinson's disease (familial) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Parkinson's disease (familial) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
familial hypertriglyceridemia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease familial hypertriglyceridemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
familial atrial fibrillation Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease familial atrial fibrillation in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
familial predisposition Gene SetFrom HPO Gene-Disease Associations genes associated with the familial predisposition phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hyperlipidemia, Familial Combined Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hyperlipidemia, Familial Combined phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Paralyses, Familial Periodic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Paralyses, Familial Periodic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Cardiomyopathy, Hypertrophic, Familial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Cardiomyopathy, Hypertrophic, Familial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Familial Mediterranean Fever Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Familial Mediterranean Fever phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Lipodystrophy, Familial Partial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Lipodystrophy, Familial Partial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Amyloidosis, Familial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Amyloidosis, Familial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Dysautonomia, Familial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Dysautonomia, Familial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Amyloid Neuropathies, Familial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Amyloid Neuropathies, Familial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Insomnia, Fatal Familial Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Insomnia, Fatal Familial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
epilepsy, familial focal, with variable foci Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial focal, with variable foci phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperparathyroidism, familial primary Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperparathyroidism, familial primary phenotype from the curated OMIM Gene-Disease Associations dataset. |
{atrial fibrillation, familial, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {atrial fibrillation, familial, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{breast-ovarian cancer, familial, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {breast-ovarian cancer, familial, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
digital arthropathy-brachydactyly, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the digital arthropathy-brachydactyly, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive familial heart block, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive familial heart block, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine, familial basilar Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine, familial basilar phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial thoracic 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial thoracic 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial thoracic 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial thoracic 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial thoracic 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial thoracic 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial thoracic 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial thoracic 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial thoracic 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial thoracic 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial thoracic 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial thoracic 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial thoracic 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial thoracic 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
insomnia, fatal familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the insomnia, fatal familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
dysautonomia, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the dysautonomia, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
combined hyperlipidemia, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the combined hyperlipidemia, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial abdominal 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial abdominal 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aortic aneurysm, familial abdominal 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the aortic aneurysm, familial abdominal 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial temporal lobe, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial temporal lobe, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypobetalipoproteinemia, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypobetalipoproteinemia, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 3a Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 3a phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
dementia, familial danish Gene SetFrom OMIM Gene-Disease Associations genes associated with the dementia, familial danish phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
seizures, benign familial infantile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the seizures, benign familial infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
[igg receptor i, phagocytic, familial deficiency of] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [igg receptor i, phagocytic, familial deficiency of] phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperuricemic nephropathy, familial juvenile 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperuricemic nephropathy, familial juvenile 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{breast-ovarian cancer, familial, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {breast-ovarian cancer, familial, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperaldosteronism, familial, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperaldosteronism, familial, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperinsulinemic hypoglycemia, familial, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperinsulinemic hypoglycemia, familial, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperinsulinemic hypoglycemia, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperinsulinemic hypoglycemia, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperinsulinemic hypoglycemia, familial, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperinsulinemic hypoglycemia, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperinsulinemic hypoglycemia, familial, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperinsulinemic hypoglycemia, familial, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperinsulinemic hypoglycemia, familial, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperinsulinemic hypoglycemia, familial, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperinsulinemic hypoglycemia, familial, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperinsulinemic hypoglycemia, familial, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?epilepsy, familial adult myoclonic, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?epilepsy, familial adult myoclonic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?candidiasis, familial, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?candidiasis, familial, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
[fleck retina, familial benign] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [fleck retina, familial benign] phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 22 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 22 phenotype from the curated OMIM Gene-Disease Associations dataset. |
candidiasis, familial, 6, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
medullary thyroid carcinoma, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the medullary thyroid carcinoma, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercholesterolemia, familial, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, familial, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ventricular fibrillation, paroxysmal familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular fibrillation, paroxysmal familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
acne inversa, familial, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the acne inversa, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
endometrial cancer, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the endometrial cancer, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperbilirubinemia, familial transient neonatal Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperbilirubinemia, familial transient neonatal phenotype from the curated OMIM Gene-Disease Associations dataset. |
dementia, familial, nonspecific Gene SetFrom OMIM Gene-Disease Associations genes associated with the dementia, familial, nonspecific phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperuricemic nephropathy, familial juvenile 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperuricemic nephropathy, familial juvenile 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperuricemic nephropathy, familial juvenile, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperuricemic nephropathy, familial juvenile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperaldosteronism, familial, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperaldosteronism, familial, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
lipodystrophy, familial partial, type 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lipodystrophy, familial partial, type 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lipodystrophy, familial partial, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lipodystrophy, familial partial, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemophagocytic lymphohistiocytosis, familial, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemophagocytic lymphohistiocytosis, familial, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemophagocytic lymphohistiocytosis, familial, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemophagocytic lymphohistiocytosis, familial, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
amyloidosis, familial visceral Gene SetFrom OMIM Gene-Disease Associations genes associated with the amyloidosis, familial visceral phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine, familial hemiplegic, 1, with progressive cerebellar ataxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hematuria, familial benign Gene SetFrom OMIM Gene-Disease Associations genes associated with the hematuria, familial benign phenotype from the curated OMIM Gene-Disease Associations dataset. |
hematuria, benign familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the hematuria, benign familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
dementia, familial british Gene SetFrom OMIM Gene-Disease Associations genes associated with the dementia, familial british phenotype from the curated OMIM Gene-Disease Associations dataset. |
pseudohyperkalemia, familial, 2, due to red cell leak Gene SetFrom OMIM Gene-Disease Associations genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia, limb-girdle, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia, limb-girdle, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemophagocytic lymphohistiocytosis, familial, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemophagocytic lymphohistiocytosis, familial, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemophagocytic lymphohistiocytosis, familial, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemophagocytic lymphohistiocytosis, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
[erythrocytosis, familial, 1] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [erythrocytosis, familial, 1] phenotype from the curated OMIM Gene-Disease Associations dataset. |
encephalopathy, familial, with neuroserpin inclusion bodies Gene SetFrom OMIM Gene-Disease Associations genes associated with the encephalopathy, familial, with neuroserpin inclusion bodies phenotype from the curated OMIM Gene-Disease Associations dataset. |
{migraine, familial typical, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {migraine, familial typical, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperpigmentation, familial progressive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperpigmentation, familial progressive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cholestasis, progressive familial intrahepatic 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cholestasis, progressive familial intrahepatic 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
pulmonary hypertension, familial primary, 1, with or without hht Gene SetFrom OMIM Gene-Disease Associations genes associated with the pulmonary hypertension, familial primary, 1, with or without hht phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia, familial, due to decreased release of plat Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset. |
cylindromatosis, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the cylindromatosis, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyskinesia, familial, with facial myokymia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyskinesia, familial, with facial myokymia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoparathyroidism, familial isolated Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoparathyroidism, familial isolated phenotype from the curated OMIM Gene-Disease Associations dataset. |
gastrointestinal stromal tumor, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the gastrointestinal stromal tumor, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
{aneurysm, familial abdominal 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {aneurysm, familial abdominal 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
hemophagocytic lymphohistiocytosis, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hemophagocytic lymphohistiocytosis, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
febrile seizures, familial, 3b Gene SetFrom OMIM Gene-Disease Associations genes associated with the febrile seizures, familial, 3b phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
stuttering, familial persistent, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuttering, familial persistent, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
stuttering, familial persistent, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuttering, familial persistent, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
stuttering, familial persistent, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuttering, familial persistent, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
stuttering, familial persistent, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the stuttering, familial persistent, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythrocytosis, familial, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythrocytosis, familial, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythrocytosis, familial, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythrocytosis, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythrocytosis, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythrocytosis, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercholesterolemia, familial, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
x inactivation, familial skewed, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the x inactivation, familial skewed, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{breast-ovarian cancer, familial, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {breast-ovarian cancer, familial, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial restrictive, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial restrictive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial restrictive, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial restrictive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial restrictive, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial restrictive, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial restrictive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial restrictive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
candidiasis, familial, 5, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercholanemia, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholanemia, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
candidiasis, familial, 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia, familial infantile, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia, familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{prostate cancer, familial, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {prostate cancer, familial, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
familial mediterranean fever, ar Gene SetFrom OMIM Gene-Disease Associations genes associated with the familial mediterranean fever, ar phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, familial adult myoclonic, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, familial adult myoclonic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cd8 deficiency, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the cd8 deficiency, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
gastric cancer, familial diffuse, with or without cleft lip and/or palate Gene SetFrom OMIM Gene-Disease Associations genes associated with the gastric cancer, familial diffuse, with or without cleft lip and/or palate phenotype from the curated OMIM Gene-Disease Associations dataset. |
lipodystrophy, familial partial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lipodystrophy, familial partial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{coronary artery disease in familial hypercholesterolemia, protection against} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {coronary artery disease in familial hypercholesterolemia, protection against} phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombotic thrombocytopenic purpura, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombotic thrombocytopenic purpura, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteolysis, familial expansile Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteolysis, familial expansile phenotype from the curated OMIM Gene-Disease Associations dataset. |
myoclonic epilepsy, infantile, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the myoclonic epilepsy, infantile, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypercholesterolemia, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
[gamma-glutamyltransferase, familial high serum] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [gamma-glutamyltransferase, familial high serum] phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic phenotype from the curated OMIM Gene-Disease Associations dataset. |
{breast-ovarian cancer, familial, susceptibility to, 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {breast-ovarian cancer, familial, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
acne inversa, familial, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the acne inversa, familial, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
atrial fibrillation, familial, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the atrial fibrillation, familial, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectopia lentis, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectopia lentis, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
platelet disorder, familial, with associated myeloid malignancy Gene SetFrom OMIM Gene-Disease Associations genes associated with the platelet disorder, familial, with associated myeloid malignancy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neurofibromatosis, familial spinal Gene SetFrom OMIM Gene-Disease Associations genes associated with the neurofibromatosis, familial spinal phenotype from the curated OMIM Gene-Disease Associations dataset. |
renal cell carcinoma, papillary, 1, familial and somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the renal cell carcinoma, papillary, 1, familial and somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
cardiomyopathy, familial hypertrophic, 20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cardiomyopathy, familial hypertrophic, 20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
tumoral calcinosis, familial, normophosphatemic Gene SetFrom OMIM Gene-Disease Associations genes associated with the tumoral calcinosis, familial, normophosphatemic phenotype from the curated OMIM Gene-Disease Associations dataset. |
{hyperlipidemia, familial combined, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {hyperlipidemia, familial combined, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
tumoral calcinosis, hyperphosphatemic, familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the tumoral calcinosis, hyperphosphatemic, familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
arrhythmogenic right ventricular dysplasia, familial, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
familial mediterranean fever, ad Gene SetFrom OMIM Gene-Disease Associations genes associated with the familial mediterranean fever, ad phenotype from the curated OMIM Gene-Disease Associations dataset. |
ventricular fibrillation, familial, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ventricular fibrillation, familial, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
migraine, familial hemiplegic, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the migraine, familial hemiplegic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |