Name

PCOS1 Gene

polycystic ovary syndrome 1

TOPAZ1 Gene

testis and ovary specific PAZ domain containing 1

ST8 Gene

suppression of tumorigenicity 8 (ovarian)

BOK Gene

BCL2-related ovarian killer

The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]

OVCA2 Gene

ovarian tumor suppressor candidate 2

POF1B Gene

premature ovarian failure, 1B

Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]

OCR1 Gene

ovarian cancer-related protein 1

OVCAS1 Gene

Ovarian cancer, epithelial, susceptibility to

OVAAL Gene

ovarian adenocarcinoma amplified long non-coding RNA

PKHD1L1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

PKD1P1 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 1

PKD1P2 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 2

PKD1P3 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 3

PKD1P4 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 4

PKD1P5 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 5

PKD1P6 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 6

PKD3 Gene

polycystic kidney disease 3 (autosomal dominant)

PKD2 Gene

polycystic kidney disease 2 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

PKD1 Gene

polycystic kidney disease 1 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

PKD1L1 Gene

polycystic kidney disease 1 like 1

This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

PKD1L2 Gene

polycystic kidney disease 1-like 2 (gene/pseudogene)

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

PKD1L3 Gene

polycystic kidney disease 1-like 3

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]

PKHD1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

PKD2L2 Gene

polycystic kidney disease 2-like 2

PKD2L1 Gene

polycystic kidney disease 2-like 1

This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

DGS2 Gene

DiGeorge syndrome/velocardiofacial syndrome complex 2

TCOF1 Gene

Treacher 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 Gene

Craniosynostosis, anal anomalies, and porokeratosis syndrome

PISRT1 Gene

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

SPG21 Gene

spastic 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 Gene

Frias syndrome

DEL8Q13 Gene

Mesomelia-synostoses syndrome

RENS2 Gene

Renpenning syndrome 2

DUP5P13 Gene

Chromosome 5p13 duplication syndrome

USH3B Gene

Usher syndrome 3B

ASPG2 Gene

Asperger syndrome, susceptibility to, 2

ASPG3 Gene

Asperger syndrome, susceptibility to, 3

ASPG4 Gene

Asperger syndrome, susceptibility to, 4

MGS Gene

Mungan syndrome

FWS Gene

Forsythe-Wakeling syndrome

DEL15Q26QTER Gene

Chromosome 15q26-qter deletion syndrome

SSSCA1 Gene

Sjogren 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 Gene

spastic 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 Gene

Jacobsen syndrome

WS2B Gene

Waardenburg syndrome, type 2B

WS2C Gene

Waardenburg syndrome, type IIC

MRXSAB Gene

Abidi X-linked mental retardation syndrome

WHSC1 Gene

Wolf-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 Gene

Cohen syndrome QTL 1

AOMS1 Gene

Abdominal obesity-metabolic syndrome QTL1

AOMS2 Gene

abdominal obesity-metabolic syndrome QTL2

DCR Gene

Down syndrome chromosome region

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.[supplied by OMIM, Apr 2005]

DUPXP11.22 Gene

Xp11.22 microduplication syndrome

DEL15Q11.2 Gene

Chromosome 15q11.2 deletion syndrome

HHT3 Gene

Osler-Rendu-Weber syndrome 3

DEL1Q43Q44 Gene

Chromosome 1q42-q44 deletion syndrome

OGS2 Gene

Opitz 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 Gene

Alport 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 Gene

Tukel syndrome

PIH2 Gene

pregnancy-induced hypertension syndrome-related protein

CXDUPQ26.3 Gene

Chromosome Xq26.3 duplication syndrome

LOC729770 Gene

wiskott-Aldrich syndrome protein homolog

HBHR Gene

alpha-thalassemia/mental retardation syndrome, type 1

NMLFS Gene

Nablus mask-like facial syndrome

BMIQ16 Gene

Chromosome 16p11.2 deletion syndrome, 220kb

DELYQ11 Gene

Sertoli cell-only syndrome, Y-linked

DEL19P13.13 Gene

Chromosome 19p13.13 deletion syndrome

DEL3PTERP25 Gene

3p- syndrome

TRIP4Q32.1Q32.2 Gene

Chromosome 4q32.1-q32.2 triplication syndrome

DEL3Q13.31 Gene

Chromosome 3q13.31 deletion syndrome

DEL15Q25 Gene

Chromosome 15q25 deletion syndrome

SSB Gene

Sjogren 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 Gene

Chromosome Xp21 deletion syndrome

DEL17Q12 Gene

Chromosome 17q12 deletion syndrome

EDS8 Gene

Ehlers-Danlos syndrome, type VIII

LOC102724426 Gene

Sjoegren syndrome nuclear autoantigen 1 homolog

DSCR8 Gene

Down syndrome critical region 8

DSCR3 Gene

Down 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 mental retardation. 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 Gene

Myelodysplasia and leukemia syndrome with monosomy 7

ALMS1 Gene

Alstrom 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 Gene

Myeloproliferative syndrome, transient (transient abnormal

WHCR Gene

Wolf-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 Gene

Chromosome 2q23.1 deletion syndrome

WHSC1L1 Gene

Wolf-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 Gene

alpha 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 an X-linked mental retardation (XLMR) syndrome most often accompanied by 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, Aug 2013]

DUP16P11.2 Gene

Chromosome 16p11.2 duplication syndrome

MMDFS Gene

Multiple mitochondrial dysfunctions syndrome

DEL8Q21.11 Gene

Chromosome 8q21.11 deletion syndrome

CDL2 Gene

Cornelia de Lange syndrome 2

DEL3Q29 Gene

Chromosome 3q29 microdeletion syndrome

AMMEC Gene

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

DGCR9 Gene

DiGeorge syndrome critical region gene 9 (non-protein coding)

DGCR2 Gene

DiGeorge 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 Gene

DiGeorge syndrome critical region gene 5 (non-protein coding)

DGCR7 Gene

DiGeorge syndrome critical region gene 7

DGCR6 Gene

DiGeorge 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 Gene

Chromosome 9p deletion syndrome

LVSKS Gene

Levy-Shanske syndrome

ADFN Gene

albinism-deafness syndrome

GPDS1 Gene

glaucoma-related pigment dispersion syndrome 1

DEL2Q32Q33 Gene

Chromosome 2q32-q33 deletion syndrome

CECR5 Gene

cat eye syndrome chromosome region, candidate 5

CECR9 Gene

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

LOC101929941 Gene

neural Wiskott-Aldrich syndrome protein-like

RIEG2 Gene

Rieger syndrome 2

DEL1Q41Q42 Gene

Chromosome 1q41-q42 deletion syndrome

SBDS Gene

Shwachman-Bodian-Diamond syndrome

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]

PSS Gene

Potocki-Shaffer syndrome

OCRL Gene

oculocerebrorenal syndrome of Lowe

This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]

LOC100420893 Gene

Down syndrome critical region 3 pseudogene

WHSC1L2P Gene

Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene

DEL11P13 Gene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

WBSCR27 Gene

Williams 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 Gene

Williams-Beuren syndrome chromosome region 28

DUP17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 duplication syndrome

FGS2 Gene

FG syndrome 2

FGS3 Gene

FG syndrome 3

HYLS1 Gene

hydrolethalus 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 Gene

Ellis 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 Gene

Asymmetric crying facies (Cayler cardiofacial syndrome)

DEL6Q24Q25 Gene

Chromosome 6q25-q25 deletion syndrome

MYSA Gene

myasthenic (Lambert-Eaton) syndrome antigen A

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

SCLL Gene

Chromosome 8p11 myeloproliferative syndrome

ACLS Gene

acrocallosal syndrome

USHBP1 Gene

Usher syndrome 1C binding protein 1

LOC389465 Gene

Sjogren syndrome antigen B pseudogene

TEMPS Gene

Temple syndrome

GHS Gene

Goldenhar syndrome

KONDS Gene

Kondoh syndrome

NIPA2P3 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3

NIPA2P2 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2

NIPA2P1 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1

NIPA2P5 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5

NIPA2P4 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4

NHS Gene

Nance-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 Gene

Melkersson-Rosenthal syndrome

CECR1 Gene

cat 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 Gene

cat 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 Gene

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

CECR6 Gene

cat eye syndrome chromosome region, candidate 6

DELXQ28 Gene

Chromosome Xq28 microdeletion syndrome

APMR3 Gene

Alopecia-mental retardation syndrome 3

APMR2 Gene

Alopecia with mental retardation syndrome 2

APMR1 Gene

Alopecia-mental retardation syndrome

COHEN2 Gene

Cohen syndrome QTL 2

DUP2Q31.1 Gene

Chromosome 2q31.1 duplication syndrome

MKKS Gene

McKusick-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, Nov 2013]

DEL22Q11.2 Gene

Chromosome 22q11.2 deletion syndrome, distal

USH2A Gene

Usher 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 Gene

myelodysplastic syndrome 2 translocation associated

DEL13Q14 Gene

Chromosome 13q14 deletion syndrome

DUP16P13.3 Gene

Chromosome 16p13.3 duplication syndrome

DEL6PTER Gene

Chromosome 6pter deletion syndrome

WRN Gene

Werner syndrome, RecQ helicase-like

This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]

DUPXQ28 Gene

Chromosome Xq28 duplication syndrome

DEL2P12P11.2 Gene

Chromosome 2p12-p11.2 deletion syndrome

ARCODS Gene

Ariculocondylar syndrome

MKS1 Gene

Meckel 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 Gene

DiGeorge 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 Gene

Wolf-Hirschhorn syndrome candidate 1-like 1 pseudogene

ANCR Gene

Angelman syndrome chromosome region

Angelman syndrome is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; MIM 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (MIM 608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) [PubMed 1619637] provided a review of Angelman syndrome. Cassidy and Schwartz (1998) [PubMed 9556704] reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.[supplied by OMIM, Oct 2008]

DEL2Q31 Gene

Chromosome 2q31.2 deletion syndrome

RJBS Gene

Rajab syndrome

DEL16P12.1P11.2 Gene

Chromosome 16p12.2-p11.2 deletion syndrome

MDNS Gene

Mammary-digital-nail syndrome

DEL2P16.1-P15 Gene

Chromosome 2p16.1-p15 deletion syndrome

WBSCR17 Gene

Williams-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 Gene

Chromosome 6q11-q14 deletion syndrome

WAS Gene

Wiskott-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 Gene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

MRXSA Gene

Armfield X-linked mental retardation syndrome

MRXSL Gene

Lubs X-linked mental retardation syndrome

RFMN Gene

Roifman syndrome

DUP22Q11.2 Gene

Chromosome 22q11.2 microduplication syndrome

DSCAM Gene

Down 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 Gene

Catel-Manzke syndrome

ICR4 Gene

ichthyosis congenita IV, ichthyosis-prematurity syndrome

LRSL Gene

Larsen-like syndrome

DUP7Q11.23 Gene

Chromosome 7q11.23 duplication syndrome

MRXSBWB Gene

Brooks-Wisniewski-Brown syndrome

MBS1 Gene

Moebius syndrome 1

MBS2 Gene

Moebius syndrome 2

MBS3 Gene

Moebius syndrome 3

THAS Gene

thoracoabdominal syndrome

DEL16P13.3 Gene

Chromosome 16p13.3 deletion syndrome

DSCR9 Gene

Down syndrome critical region 9 (non-protein coding)

DSCR4 Gene

Down 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 Gene

Chromosome 17q23.1-q23.2 deletion syndrome

AIC Gene

Aicardi syndrome

DEL1P32P31 Gene

Chromosome 1p32-p31 deletion syndrome

DUPXQ27.3Q28 Gene

Chromosome Xq27.3-q28 duplication syndrome

DEL14Q11Q22 Gene

Chromosome 14q11-q22 deletion syndrome

MCS Gene

Miles-Carpenter X-linked mental retardation syndrome

SPPM Gene

scapuloperoneal syndrome, myopathic type

DUP17P13.3 Gene

Chromosome 17p13.3 duplication syndrome

SMCR8 Gene

Smith-Magenis syndrome chromosome region, candidate 8

SMCR2 Gene

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

SMCR5 Gene

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

SMCR6 Gene

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)

CECR7 Gene

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

CYLD Gene

cylindromatosis (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 Gene

Hypotonia-cystinuria syndrome

WAGRO Gene

WAGRO syndrome

OFD1 Gene

oral-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. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]

EDSS2 Gene

Ectodermal dysplasia-syndactyly syndrome 2

DELXP11.3 Gene

Chromosome Xp11.3 deletion syndrome

MRXSMP Gene

Martin-Probst deafness-mental retardation syndrome

MSD Gene

microcephaly with spastic diplegia (Paine syndrome)

PRS Gene

Prieto X-linked mental retardation syndrome

DUP17Q12 Gene

Chromosome 17q12 duplication syndrome

USH1K Gene

Usher syndrome 1K (autosomal recessive)

SPG38 Gene

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

ALMS1P Gene

Alstrom syndrome 1 pseudogene

SBDSP1 Gene

Shwachman-Bodian-Diamond syndrome pseudogene 1

ACRPV Gene

Acropectorovertebral dysplasia (F syndrome)

ACRPS Gene

Acropectoral syndrome

PRBNS Gene

Pierre Robin syndrome

ZLS Gene

Zimmerman-Laband Syndrome

CCCSX Gene

Cerebral-cerebellar-coloboma syndrome, X-linked

WBSCR22 Gene

Williams 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 Gene

Wolfram 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 Gene

chromosome 3q29 microduplication syndrome

DUPXP11.23P11.22 Gene

Chromosome Xp11.23-p11.22 duplication syndrome

ASPG1 Gene

Asperger syndrome, susceptibility to, 1

DEL18P Gene

Chromosome 18p deletion syndrome

DEL18Q Gene

Chromosome 18q deletion syndrome

FRTS1 Gene

Fanconi renotubular syndrome

PTLS Gene

Potocki-Lupski syndrome

CECR Gene

cat 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 Gene

FG syndrome 5

IPW Gene

imprinted 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 Gene

Emanuel syndrome

DGCR11 Gene

DiGeorge syndrome critical region gene 11 (non-protein coding)

DGCR10 Gene

DiGeorge syndrome critical region gene 10 (non-protein coding)

DGCR12 Gene

DiGeorge syndrome critical region gene 12 (non-protein coding)

DGCR14 Gene

DiGeorge 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. [provided by RefSeq, Jul 2008]

DSCR10 Gene

Down syndrome critical region 10 (non-protein coding)

GTS Gene

Gilles de la Tourette syndrome

DEL15Q24 Gene

Chromosome 15q24 deletion syndrome

RCHTS Gene

Roifman-Chitayat syndrome

C16DELQ22 Gene

Chromosome 16q22 deletion syndrome

TRPS1 Gene

trichorhinophalangeal 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 Gene

Chromosome 15q13.3 microdeletion syndrome

DWS Gene

dandy-walker syndrome

DUP1Q21 Gene

Chromosome 1q21.1 duplication syndrome

WBS2 Gene

Williams-Beuren syndrome type 2

WBSCR2 Gene

Williams-Beuren syndrome chromosome region 2

LFS3 Gene

Li-Fraumeni syndrome 3

ATD Gene

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1C Gene

Usher 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 Gene

Usher 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 Gene

Usher syndrome 1E (autosomal recessive, severe)

RSS Gene

Russell Silver syndrome

SCKL3 Gene

Seckel syndrome 3

WSN Gene

Waisman syndrome

RSCIS Gene

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

DER22T8-22 Gene

Supernumerary der(22)t(8-22) syndrome

GUST Gene

Gustavson mental retardation syndrome (with microcephaly, optic

RLS3 Gene

Restless legs syndrome 3

RLS2 Gene

Restless legs syndrome 2

RLS1 Gene

Restless legs syndrome, susceptibility to

RLS7 Gene

Restless legs syndrome 7

RLS6 Gene

Restless legs syndrome, susceptibility to, 6

RLS5 Gene

Restless legs syndrome, susceptibility to, 5

RLS8 Gene

Restless legs syndrome, susceptibility to, 8

WASL Gene

Wiskott-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 Gene

Bardet-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, Jul 2008]

BBS1 Gene

Bardet-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 Gene

Bardet-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 mental retardation. 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 Gene

Bardet-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 Gene

Bardet-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 mental retardation. 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. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]

BBS7 Gene

Bardet-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 Gene

non 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 Gene

non 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 Gene

Hermansky-Pudlak syndrome 1 pseudogene

ATPLS Gene

antiphospholipid syndrome, familial

DEL1P36 Gene

Chromosome 1p36 deletion syndrome

DURS1 Gene

Duane retraction syndrome 1

VWSM Gene

Van der Woude syndrome modifier

DSCAML1 Gene

Down syndrome cell adhesion molecule like 1

LOC653588 Gene

Sjogren syndrome antigen B (autoantigen La) pseudogene

GTSCR1 Gene

Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding)

DEL17Q21.31 Gene

Microdeletion 17q21.31 syndrome

NS2 Gene

Noonan syndrome 2

RLS4 Gene

Restless legs syndrome 4

DEL7Q11.23 Gene

Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb

AOS Gene

Adams-Oliver syndrome

BBS10 Gene

Bardet-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 mental retardation. 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 Gene

Bardet-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 Gene

craniofacioskeletal syndrome

SSNA1 Gene

Sjogren syndrome nuclear autoantigen 1

DUP17Q21.31 Gene

Chromosome 17q21.31 duplication syndrome

BOS2 Gene

Branchiootic syndrome 2

DEL19Q13.11 Gene

Chromosome 19q13.11 deletion syndrome

LOC100533757 Gene

Sjogren syndrome antigen B (autoantigen La) pseudogene

DEL10Q26 Gene

Chromosome 10q deletion syndrome

WBSCR16 Gene

Williams-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 Gene

Otodental dysplasia chromosome deletion syndrome

DEL17Q11.2 Gene

chromosome 17q11.2 deletion syndrome

DUP8Q22.1 Gene

Leri pleonosteosis chromosome duplication syndrome

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

DEL4Q21 Gene

Chromosome 4q21 deletion syndrome

DUP22Q13 Gene

Chromosome 22q13 duplication syndrome

DGCR6L Gene

DiGeorge 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 Gene

Bloom syndrome, RecQ helicase-like

The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]

WTRS Gene

Wittwer syndrome

DEL17P13.1 Gene

Chromosome 17p13.1 deletion syndrome

KTWS Gene

Klippel-Trenaunay-Weber syndrome

DEL11P15P14 Gene

Chromosome 11p15-p14 deletion syndrome

DEL1Q21 Gene

Chromosome 1q21.1 deletion syndrome

DEL8Q12Q21 Gene

Bor-Duane hydrocephalus contiguous gene syndrome

SLSN3 Gene

Senior-Loken syndrome 3

BZX Gene

Bazex syndrome

ARVCF Gene

armadillo 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 Gene

Hermansky-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 Gene

Hermansky-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 Gene

Hermansky-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 Gene

Hermansky-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. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]

HPS3 Gene

Hermansky-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 Gene

lymphedema-cholestasis syndrome 1

polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From 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.

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome; premature ovarian failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovary syndrome; premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Central precocious puberty Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Central precocious puberty phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Puberty, Precocious Gene Set

From CTD Gene-Disease Associations

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

Precocious Puberty, Central Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Precocious Puberty, Central from the curated CTD Gene-Disease Associations dataset.

precocious puberty Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; precocious puberty Gene Set

From GAD Gene-Disease Associations

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

hypogonadism; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypogonadism; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial male-limited precocious puberty. Gene Set

From 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.

hyperinsulinism; insulin resistance; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperinsulinism; insulin resistance; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; obesity; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; obesity; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; puberty, precocious; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; puberty, precocious; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

puberty, precocious Gene Set

From GAD Gene-Disease Associations

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

precocious puberty Gene Set

From HPO Gene-Disease Associations

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

precocious puberty in males Gene Set

From HPO Gene-Disease Associations

genes associated with the precocious puberty in males phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

precocious puberty with sertoli cell tumor Gene Set

From HPO Gene-Disease Associations

genes associated with the precocious puberty with sertoli cell tumor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

isosexual precocious puberty Gene Set

From HPO Gene-Disease Associations

genes associated with the isosexual precocious puberty phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Puberty, Precocious Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

precocious puberty, male Gene Set

From OMIM Gene-Disease Associations

genes associated with the precocious puberty, male phenotype from the curated OMIM Gene-Disease Associations dataset.

precocious puberty, central, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the precocious puberty, central, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

leydig cell adenoma, somatic, with precocious puberty Gene Set

From OMIM Gene-Disease Associations

genes associated with the leydig cell adenoma, somatic, with precocious puberty phenotype from the curated OMIM Gene-Disease Associations dataset.

?precocious puberty, central, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?precocious puberty, central, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Polycystic Ovary Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic Ovary Syndrome from the curated CTD Gene-Disease Associations dataset.

Polycystic Ovary Syndrome Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Polycystic Ovary Syndrome in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

polycystic ovary syndrome Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease polycystic ovary syndrome in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

polycystic ovary syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

polycystic ovary syndrome; hyperandrogenism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovary syndrome; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; obesity; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anovulation; infertility, female; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anovulation; infertility, female; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; hirsutism; hyperandrogenism; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; hirsutism; hyperandrogenism; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome; adrenal androgen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovary syndrome; adrenal androgen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome; pregnancy loss, recurrent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovary syndrome; pregnancy loss, recurrent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular risk; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular risk; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; insulin resistance; obesity; polycystic ovary syndrome; leanness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovary syndrome; leanness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome; diabetes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovary syndrome; diabetes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amenorrhea; hirsutism; insulin resistance; obesity; oligomenorrhea; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amenorrhea; hirsutism; insulin resistance; obesity; oligomenorrhea; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 2; obesity; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 2; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin; glucose; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin; glucose; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; obesity; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose tolerance; insulin; polycystic ovary syndrome; androgen levels; anthropometric measuments Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose tolerance; insulin; polycystic ovary syndrome; androgen levels; anthropometric measuments in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome (pcos) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovary syndrome (pcos) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose tolerance; insulin; polycystic ovary syndrome; hormone disturbance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose tolerance; insulin; polycystic ovary syndrome; hormone disturbance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

diabetes mellitus, type 2; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 2; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome; testosterone Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovary syndrome; testosterone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; insulin resistance; overweight; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; insulin resistance; overweight; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary syndrome. Gene Set

From GAD Gene-Disease Associations

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

Polycystic ovary syndrome Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Polycystic ovary syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

polycystic ovary syndrome Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease polycystic ovary syndrome in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Polycystic Ovary Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Ovary Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

polycystic ovary syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic ovary syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic ovarian syndrome; hyperinsulinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; hyperinsulinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes, type 2; polycystic ovarian syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, type 2; polycystic ovarian syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; hyperandrogenism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; polycystic ovarian syndrome; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovary Gene Set

From GAD Gene-Disease Associations

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

Polycystic Ovary Syndrome_Skeletal muscle_GSE6798 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Polycystic Ovary Syndrome_Skeletal muscle_GSE6798 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Polycystic Ovary Syndrome_Adipose tissue_GSE5090 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Polycystic Ovary Syndrome_Adipose tissue_GSE5090 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

blepharophimosis; blepharoptosis; pof - premature ovarian failure; primary ovarian insufficiency; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blepharophimosis; blepharoptosis; pof - premature ovarian failure; primary ovarian insufficiency; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian disease Gene Set

From GAD Gene-Disease Associations

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

ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; neoplasms, glandular and epithelial; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; neoplasms, glandular and epithelial; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; mammary neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; mammary neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasm recurrence, local; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasm recurrence, local; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cervical neoplasm; endometrial neoplasms; ovarian neoplasm; ovarian neoplasms; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cervical neoplasm; endometrial neoplasms; ovarian neoplasm; ovarian neoplasms; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fallopian tube neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fallopian tube neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; carcinoma; mammary neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; carcinoma; mammary neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

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

breast neoplasms; colorectal neoplasms; lung neoplasms; mammary neoplasms; neoplasm of lung ; neoplasms; ovarian neoplasm; ovarian neoplasms; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; colorectal neoplasms; lung neoplasms; mammary neoplasms; neoplasm of lung ; neoplasms; ovarian neoplasm; ovarian neoplasms; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; carcinoma, intraductal, noninfiltrating; carcinoma, lobular; mammary neoplasms; noninfiltrating intraductal carcinoma; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; carcinoma, intraductal, noninfiltrating; carcinoma, lobular; mammary neoplasms; noninfiltrating intraductal carcinoma; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma; fallopian tube neoplasms; ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma; fallopian tube neoplasms; ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

granulosa cell tumor; neoplasms; ovarian neoplasm; ovarian neoplasms; thecoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease granulosa cell tumor; neoplasms; ovarian neoplasm; ovarian neoplasms; thecoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; breast neoplasms, male; mammary neoplasms; neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; breast neoplasms, male; mammary neoplasms; neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; colonic neoplasms; mammary neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; colonic neoplasms; mammary neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystadenocarcinoma, serous; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystadenocarcinoma, serous; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; breast neoplasms, male; mammary neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; breast neoplasms, male; mammary neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; infertility, female; ovarian cyst, nos; ovarian cysts Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; infertility, female; ovarian cyst, nos; ovarian cysts in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; colonic neoplasms; lymphoma; mammary neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; colonic neoplasms; lymphoma; mammary neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; mammary neoplasms; neoplasms, prostatic; ovarian neoplasm; ovarian neoplasms; prostatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; mammary neoplasms; neoplasms, prostatic; ovarian neoplasm; ovarian neoplasms; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, endometrioid; cystadenocarcinoma, serous; neoplasm invasiveness; ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, endometrioid; cystadenocarcinoma, serous; neoplasm invasiveness; ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; mammary neoplasms; neoplasms, multiple primary; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; mammary neoplasms; neoplasms, multiple primary; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amenorrhea; ovarian failure, premature; pof - premature ovarian failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amenorrhea; ovarian failure, premature; pof - premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma, clear cell; adenocarcinoma, mucinous; carcinoma, endometrioid; cystadenocarcinoma, serous; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma, clear cell; adenocarcinoma, mucinous; carcinoma, endometrioid; cystadenocarcinoma, serous; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; breast neoplasms, male; mammary neoplasms; neoplasms, prostatic; ovarian neoplasm; ovarian neoplasms; prostatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; breast neoplasms, male; mammary neoplasms; neoplasms, prostatic; ovarian neoplasm; ovarian neoplasms; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma in situ; carcinoma, ductal, breast; invasive ductal breast carcinoma; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma in situ; carcinoma, ductal, breast; invasive ductal breast carcinoma; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; mammary neoplasms; melanoma; ovarian neoplasm; ovarian neoplasms; uveal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; mammary neoplasms; melanoma; ovarian neoplasm; ovarian neoplasms; uveal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; fallopian tube neoplasms; mammary neoplasms; ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; fallopian tube neoplasms; mammary neoplasms; ovarian neoplasm; ovarian neoplasms; peritoneal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasm invasiveness; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasm invasiveness; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms, glandular and epithelial; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms, glandular and epithelial; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amenorrhea; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amenorrhea; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma, clear cell; adenocarcinoma, mucinous; cystadenocarcinoma, serous; endometrial neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma, clear cell; adenocarcinoma, mucinous; cystadenocarcinoma, serous; endometrial neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometrial neoplasms; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometrial neoplasms; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian failure, premature; pof - premature ovarian failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ovarian failure, premature; pof - premature ovarian failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease 46, xx disorders of sex development; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma, mucinous; carcinoma; cystadenocarcinoma; ovarian neoplasm; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma, mucinous; carcinoma; cystadenocarcinoma; ovarian neoplasm; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypothyroidism; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

precocious Gene Set

From GeneRIF Biological Term Annotations

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

precocious menopause Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the precocious menopause phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

precocious atherosclerosis Gene Set

From HPO Gene-Disease Associations

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

Delayed puberty Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Delayed puberty phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Puberty, Delayed Gene Set

From CTD Gene-Disease Associations

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

body weight; puberty, delayed Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; puberty, delayed in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

puberty onset Gene Set

From GAD Gene-Disease Associations

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

puberty, delayed Gene Set

From GAD Gene-Disease Associations

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

growth disorders; puberty, delayed Gene Set

From GAD Gene-Disease Associations

genes associated with the disease growth disorders; puberty, delayed in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

timing of puberty Gene Set

From GAD Gene-Disease Associations

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

puberty Gene Set

From GeneRIF Biological Term Annotations

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

Puberty onset (genital enlargement) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Puberty onset (genital enlargement) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Puberty onset Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Puberty onset (breast development) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Puberty onset (breast development) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

puberty and gonadal disorders Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the puberty and gonadal disorders phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

puberty and gonadal disorders Gene Set

From HPO Gene-Disease Associations

genes associated with the puberty and gonadal disorders phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

delayed puberty Gene Set

From HPO Gene-Disease Associations

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

insulin-resistant diabetes mellitus at puberty Gene Set

From HPO Gene-Disease Associations

genes associated with the insulin-resistant diabetes mellitus at puberty phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

accelerated bone age after puberty Gene Set

From HPO Gene-Disease Associations

genes associated with the accelerated bone age after puberty phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Puberty, Delayed Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Ovarian hyperstimulation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Breast and Ovarian Cancer Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.

Ovarian Hyperstimulation Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ovarian Hyperstimulation Syndrome from the curated CTD Gene-Disease Associations dataset.

ovarian hyperstimulation syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

infertility; ovarian hyperstimulation syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility; ovarian hyperstimulation syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fragile x syndrome; ovarian failure, premature Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fragile x syndrome; ovarian failure, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian hyperstimulation syndrome Gene Set

From GAD Gene-Disease Associations

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

Ovarian Hyperstimulation Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ovarian Hyperstimulation Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

ovarian hyperstimulation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian hyperstimulation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Ovary Gene Set

From BioGPS Human Cell Type and Tissue Gene Expression Profiles

genes with high or low expression in Ovary relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.

ovary Gene Set

From BioGPS Mouse Cell Type and Tissue Gene Expression Profiles

genes with high or low expression in ovary relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.

dysgerminoma of ovary Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovary serous adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

endometriosis of ovary Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovary epithelial cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

choriocarcinoma of ovary Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovary transitional cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

endometrioid ovary carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

dermoid cyst of ovary Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovary sarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

mature teratoma of the ovary Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovary adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovary Gene Set

From GeneRIF Biological Term Annotations

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

ovary Gene Set

From GTEx Tissue Gene Expression Profiles

genes with high or low expression in ovary relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.

abnormality of the ovary Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the ovary phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

ovary Gene Set

From HPA Tissue Gene Expression Profiles

genes with high or low expression in ovary relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.

ovary Gene Set

From HPA Tissue Protein Expression Profiles

proteins with high or low expression in ovary relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.

adult ovary Gene Set

From HPM Cell Type and Tissue Protein Expression Profiles

proteins with high or low expression in adult ovary relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset.

aplasia/hypoplasia of the ovary Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the ovary phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

streak ovary Gene Set

From HPO Gene-Disease Associations

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

aplasia of the ovary Gene Set

From HPO Gene-Disease Associations

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

abnormality of the ovary Gene Set

From HPO Gene-Disease Associations

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

hypoplasia of the ovary Gene Set

From HPO Gene-Disease Associations

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

Ovary-specific acidic protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ovary-specific acidic protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Testis and ovary-specific PAZ domain-containing protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Testis and ovary-specific PAZ domain-containing protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ovary atrophy Gene Set

From MPO Gene-Phenotype Associations

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

abnormal ovary size Gene Set

From MPO Gene-Phenotype Associations

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

ovary inflammation Gene Set

From MPO Gene-Phenotype Associations

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

absent ovary capsule Gene Set

From MPO Gene-Phenotype Associations

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

abnormal ovary morphology Gene Set

From MPO Gene-Phenotype Associations

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

enlarged ovary Gene Set

From MPO Gene-Phenotype Associations

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

decreased ovary weight Gene Set

From MPO Gene-Phenotype Associations

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

abnormal ovary development Gene Set

From MPO Gene-Phenotype Associations

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

ectopic ovary Gene Set

From MPO Gene-Phenotype Associations

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

ovary degeneration Gene Set

From MPO Gene-Phenotype Associations

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

ovary hemorrhage Gene Set

From MPO Gene-Phenotype Associations

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

absent ovary Gene Set

From MPO Gene-Phenotype Associations

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

abnormal ovary capsule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ovary capsule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ovary hyperplasia Gene Set

From MPO Gene-Phenotype Associations

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

abnormal ovary weight Gene Set

From MPO Gene-Phenotype Associations

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

ovary hypoplasia Gene Set

From MPO Gene-Phenotype Associations

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

ovary cysts Gene Set

From MPO Gene-Phenotype Associations

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

increased ovary weight Gene Set

From MPO Gene-Phenotype Associations

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

abnormal ovary physiology Gene Set

From MPO Gene-Phenotype Associations

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

small ovary Gene Set

From MPO Gene-Phenotype Associations

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

increased ovary tumor incidence Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased ovary tumor incidence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ovary Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term ovary in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

ovary Gene Set

From ProteomicsDB Cell Type and Tissue Protein Expression Profiles

proteins with high or low expression in ovary relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset.

Ovary Gene Set

From Roadmap Epigenomics Cell and Tissue Gene Expression Profiles

genes with high or low expression in Ovary relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset.

ovary adenocarcinoma cell line Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue ovary adenocarcinoma cell line from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ovary cancer cell line Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue ovary cancer cell line from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ovary cancer cell Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue ovary cancer cell from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ovary cell line Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue ovary cell line from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ovary Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue ovary from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ovary Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue ovary in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

plant ovary Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue plant ovary in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovary cancer cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovary cancer cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovary cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovary cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovary epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovary epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovary epithelium cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovary epithelium cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovary cancer cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovary cancer cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovary adenocarcinoma cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovary adenocarcinoma cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovary Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovary in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From 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.

Polycystic kidney disease 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic kidney disease 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycystic kidney disease, adult type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic kidney disease, adult type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycystic kidney disease, infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic kidney disease, infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycystic liver disease Gene Set

From CTD Gene-Disease Associations

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

Polycystic Kidney, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Polycystic Kidney, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy from the curated CTD Gene-Disease Associations dataset.

Polycystic Kidney Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic Kidney Diseases from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

polycystic kidney disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

polycystic kidney disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

polycystic liver disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

nephritis, interstitial; polycystic kidney diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nephritis, interstitial; polycystic kidney diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic kidney disease 1 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic kidney disease 1 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetic nephropathy; polycystic kidney disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetic nephropathy; polycystic kidney disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

early onset of esrf in pkd1 adult polycystic kidney disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease early onset of esrf in pkd1 adult polycystic kidney disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic kidney disease Gene Set

From GAD Gene-Disease Associations

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

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic liver disease Gene Set

From GAD Gene-Disease Associations

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

cystic fibrosis; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic kidney diseases Gene Set

From GAD Gene-Disease Associations

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

glomerulonephritis, iga; kidney failure, chronic; polycystic kidney diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glomerulonephritis, iga; kidney failure, chronic; polycystic kidney diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovaries and premature male pattern baldness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovaries and premature male pattern baldness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic Gene Set

From GeneRIF Biological Term Annotations

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

polycystic ovaries Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the polycystic ovaries phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

polycystic liver disease Gene Set

From HPO Gene-Disease Associations

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

polycystic ovaries Gene Set

From HPO Gene-Disease Associations

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

polycystic kidney dysplasia Gene Set

From HPO Gene-Disease Associations

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

Polycystic Kidney, Autosomal Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney, Autosomal Dominant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Polycystic Kidney, Autosomal Recessive Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney, Autosomal Recessive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Polycystic Kidney Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Polycystic kidney disease type 2 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polycystic kidney disease type 2 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polycystic kidney disease type 1 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polycystic kidney disease type 1 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

polycystic kidney Gene Set

From MPO Gene-Phenotype Associations

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

polycystic kidney disease 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, adult type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, adult type i phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney and hepatic disease Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney and hepatic disease phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic liver disease Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic liver disease phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

SMAD-19615063-ovarian surface epithelium-human Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the SMAD-19615063-ovarian surface epithelium-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy, progressive, with ovarian failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy, progressive, with ovarian failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Premature ovarian failure 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Premature ovarian failure 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Premature ovarian failure 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Premature ovarian failure 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Premature ovarian failure 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Premature ovarian failure 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Premature ovarian failure 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Premature ovarian failure 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Premature ovarian failure 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Premature ovarian failure 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Breast-ovarian cancer, familial 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Breast-ovarian cancer, familial 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ovarian dysgenesis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ovarian dysgenesis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Premature ovarian failure 2b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Premature ovarian failure 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ovarian dysgenesis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ovarian dysgenesis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Breast-ovarian cancer, familial 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Breast-ovarian cancer, familial 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Premature ovarian failure 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Premature ovarian failure 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 Gene Set

From 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.

Ovarian Neoplasms Gene Set

From CTD Gene-Disease Associations

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

Primary Ovarian Insufficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Primary Ovarian Insufficiency from the curated CTD Gene-Disease Associations dataset.

Premature Ovarian Failure 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Premature Ovarian Failure 3 from the curated CTD Gene-Disease Associations dataset.

Premature Ovarian Failure 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Premature Ovarian Failure 5 from the curated CTD Gene-Disease Associations dataset.

Premature Ovarian Failure 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Premature Ovarian Failure 7 from the curated CTD Gene-Disease Associations dataset.

Ovarian Diseases Gene Set

From CTD Gene-Disease Associations

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

OVARIAN DYSGENESIS 1 Gene Set

From CTD Gene-Disease Associations

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

Primary Ovarian Insufficiency, Fragile X-Associated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Primary Ovarian Insufficiency, Fragile X-Associated from the curated CTD Gene-Disease Associations dataset.

Vanishing White Matter Leukodystrophy with Ovarian Failure Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vanishing White Matter Leukodystrophy with Ovarian Failure from the curated CTD Gene-Disease Associations dataset.

Ovarian Cysts Gene Set

From CTD Gene-Disease Associations

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

Ovarian epithelial cancer Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ovarian epithelial cancer from the curated CTD Gene-Disease Associations dataset.

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 Gene Set

From 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 Set

From 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.

Premature Ovarian Failure 2b Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Premature Ovarian Failure 2b from the curated CTD Gene-Disease Associations dataset.

Premature Ovarian Failure 2a Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Premature Ovarian Failure 2a from the curated CTD Gene-Disease Associations dataset.

Premature Ovarian Failure 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Premature Ovarian Failure 6 from the curated CTD Gene-Disease Associations dataset.

Ovarian Dysgenesis 2 Gene Set

From CTD Gene-Disease Associations

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

Ovarian Neoplasms Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Ovarian Neoplasms in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

premature ovarian failure Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

ovarian disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

ovarian cancer Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease ovarian cancer in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

premature ovarian failure Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease premature ovarian failure in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

ovarian disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease ovarian disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

ovarian cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

premature ovarian failure Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian serous cystadenofibroma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

malignant ovarian cyst Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

malignant ovarian germ cell neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease malignant ovarian germ cell neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

malignant ovarian brenner tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian primitive germ cell tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease ovarian primitive germ cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ovarian serous adenofibroma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian lymphoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian benign neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian endometrioid stromal sarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

pediatric ovarian dysgerminoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian cyst Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian cystic teratoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian germ cell teratoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian stromal hyperthecosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian brenner tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian cystadenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

mucinous ovarian cystadenoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hypercalcemic type ovarian small cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease hypercalcemic type ovarian small cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ovarian biphasic or triphasic teratoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease ovarian biphasic or triphasic teratoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ovarian gonadoblastoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian squamous cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian large-cell neuroendocrine carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian mucinous adenofibroma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian solid teratoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

malignant ovarian surface epithelial-stromal neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease malignant ovarian surface epithelial-stromal neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ovarian clear cell adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian carcinosarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian mucinous cystadenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian mucinous adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

pediatric ovarian germ cell tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease pediatric ovarian germ cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ovarian endodermal sinus tumor Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian germ cell monodermal and highly specialized teratoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease ovarian germ cell monodermal and highly specialized teratoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

ovarian angiosarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian dysfunction Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian mucinous neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian small cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian germ cell cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

non-gestational ovarian choriocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian serous cystadenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian cystadenoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hereditary breast ovarian cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ovarian embryonal carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

liver transplant; prostate cancer; premature ovarian failure; lupus nephritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease liver transplant; prostate cancer; premature ovarian failure; lupus nephritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

idiopathic premature ovarian failure Gene Set

From GAD Gene-Disease Associations

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

breast neoplasms; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

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

premature ovarian failure; lupus nephritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease premature ovarian failure; lupus nephritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian cancer ; breast cancer Gene Set

From GAD Gene-Disease Associations

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

ovarian failure, premature Gene Set

From GAD Gene-Disease Associations

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

ovarian dysfunction Gene Set

From GAD Gene-Disease Associations

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

ovarian cancer. Gene Set

From GAD Gene-Disease Associations

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

epithelial ovarian cancer Gene Set

From GAD Gene-Disease Associations

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

infertility, female; ovarian failure, premature Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; ovarian failure, premature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; cell transformation, neoplastic; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; cell transformation, neoplastic; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast cancer; ovarian cancer Gene Set

From GAD Gene-Disease Associations

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

breast neoplasms; carcinoma; melanoma; neoplastic syndromes, hereditary; ovarian neoplasms; pancreatic neoplasms; prostatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; carcinoma; melanoma; neoplastic syndromes, hereditary; ovarian neoplasms; pancreatic neoplasms; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; ovarian diseases Gene Set

From GAD Gene-Disease Associations

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

ovarian cancer- methotrexate related toxicity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ovarian cancer- methotrexate related toxicity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian cancer and endometriosis Gene Set

From GAD Gene-Disease Associations

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

ovarian cancer; thyroid cancer; pheochromocytoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ovarian cancer; thyroid cancer; pheochromocytoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; neoplasms, glandular and epithelial; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; neoplasms, glandular and epithelial; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mucinous ovarian tumor Gene Set

From GAD Gene-Disease Associations

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

chromosomal instability; cystadenocarcinoma, serous; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosomal instability; cystadenocarcinoma, serous; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystadenocarcinoma, serous; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystadenocarcinoma, serous; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian cancer Gene Set

From GAD Gene-Disease Associations

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

ovarian neoplasms; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ovarian neoplasms; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; dna damage; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; dna damage; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; neoplasms, germ cell and embryonal; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; neoplasms, germ cell and embryonal; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

premature ovarian failure Gene Set

From GAD Gene-Disease Associations

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

infertility, female; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; ovarian cancer Gene Set

From GAD Gene-Disease Associations

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

ovarian diseases Gene Set

From GAD Gene-Disease Associations

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

stomach cancer; ovarian cancer Gene Set

From GAD Gene-Disease Associations

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

ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

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

ovarian carcinoma Gene Set

From GAD Gene-Disease Associations

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

breast neoplasms; neoplastic syndromes, hereditary; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; neoplastic syndromes, hereditary; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate breast testicular and ovarian cancers Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prostate breast testicular and ovarian cancers in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate cancer; ovarian cancer Gene Set

From GAD Gene-Disease Associations

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

carcinoma, non-small-cell lung; diarrhea; exanthema; head and neck neoplasms; lung neoplasms; neoplasms, squamous cell; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, non-small-cell lung; diarrhea; exanthema; head and neck neoplasms; lung neoplasms; neoplasms, squamous cell; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; neoplasms, multiple primary; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; neoplasms, multiple primary; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; ovarian neoplasms; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; ovarian neoplasms; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast cancer ovarian cancer Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; ovarian diseases Gene Set

From GAD Gene-Disease Associations

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

ovarian hyperandrogenism Gene Set

From GAD Gene-Disease Associations

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

endometrioid and clear cell ovarian cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometrioid and clear cell ovarian cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menopause, premature; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menopause, premature; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

premature ovarian failure; primary amenorrhea; secondary amenorrhea Gene Set

From GAD Gene-Disease Associations

genes associated with the disease premature ovarian failure; primary amenorrhea; secondary amenorrhea in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

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

premature ovarian failure; menopause, early Gene Set

From GAD Gene-Disease Associations

genes associated with the disease premature ovarian failure; menopause, early in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ovarian Gene Set

From GeneRIF Biological Term Annotations

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

regulation of ovarian follicle development Gene Set

From GO Biological Process Annotations

genes participating in the regulation of ovarian follicle development biological process from the curated GO Biological Process Annotations dataset.

initiation of primordial ovarian follicle growth Gene Set

From GO Biological Process Annotations

genes participating in the initiation of primordial ovarian follicle growth biological process from the curated GO Biological Process Annotations dataset.

ovarian cumulus expansion Gene Set

From GO Biological Process Annotations

genes participating in the ovarian cumulus expansion biological process from the curated GO Biological Process Annotations dataset.

positive regulation of ovarian follicle development Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of ovarian follicle development biological process from the curated GO Biological Process Annotations dataset.

ovarian follicle rupture Gene Set

From GO Biological Process Annotations

genes participating in the ovarian follicle rupture biological process from the curated GO Biological Process Annotations dataset.

ovarian follicle atresia Gene Set

From GO Biological Process Annotations

genes participating in the ovarian follicle atresia biological process from the curated GO Biological Process Annotations dataset.

regulation of antral ovarian follicle growth Gene Set

From GO Biological Process Annotations

genes participating in the regulation of antral ovarian follicle growth biological process from the curated GO Biological Process Annotations dataset.

positive regulation of antral ovarian follicle growth Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of antral ovarian follicle growth biological process from the curated GO Biological Process Annotations dataset.

ovulation from ovarian follicle Gene Set

From GO Biological Process Annotations

genes participating in the ovulation from ovarian follicle biological process from the curated GO Biological Process Annotations dataset.

ovarian follicle development Gene Set

From GO Biological Process Annotations

genes participating in the ovarian follicle development biological process from the curated GO Biological Process Annotations dataset.

preantral ovarian follicle growth Gene Set

From GO Biological Process Annotations

genes participating in the preantral ovarian follicle growth biological process from the curated GO Biological Process Annotations dataset.

primary ovarian follicle growth Gene Set

From GO Biological Process Annotations

genes participating in the primary ovarian follicle growth biological process from the curated GO Biological Process Annotations dataset.

antral ovarian follicle growth Gene Set

From GO Biological Process Annotations

genes participating in the antral ovarian follicle growth biological process from the curated GO Biological Process Annotations dataset.

Ovarian cancer in BRCA1 mutation carriers Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Ovarian cancer in BRCA1 mutation carriers phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Ovarian cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

Ovarian reserve Gene Set

From GWAS Catalog SNP-Phenotype Associations

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

ovarian cancer Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease ovarian cancer in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

premature ovarian failure Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease premature ovarian failure in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

ovarian disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease ovarian disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

ovarian neoplasm Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the ovarian neoplasm phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

premature ovarian failure Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the premature ovarian failure phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

ovarian cyst Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the ovarian cyst phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

primary ovarian failure Gene Set

From HPO Gene-Disease Associations

genes associated with the primary ovarian failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ovarian gonadoblastoma Gene Set

From HPO Gene-Disease Associations

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

ovarian fibroma Gene Set

From HPO Gene-Disease Associations

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

ovarian neoplasm Gene Set

From HPO Gene-Disease Associations

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

premature ovarian failure Gene Set

From HPO Gene-Disease Associations

genes associated with the premature ovarian failure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ovarian cyst Gene Set

From HPO Gene-Disease Associations

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

ovarian papillary adenocarcinoma Gene Set

From HPO Gene-Disease Associations

genes associated with the ovarian papillary adenocarcinoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Ovarian Cysts Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Ovarian Neoplasms Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Primary Ovarian Insufficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Primary Ovarian Insufficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Ovarian Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Ovarian Failure, Premature Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ovarian Failure, Premature phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Ovarian carcinoma immunoreactive antigen Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ovarian carcinoma immunoreactive antigen protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ovarian tumour, otubain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ovarian tumour, otubain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Bcl-2-related ovarian killer protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bcl-2-related ovarian killer protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal primordial ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal primordial ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased secondary ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased secondary ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased primordial ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased primordial ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal primordial ovarian follicle morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal primordial ovarian follicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ovarian follicular cyst Gene Set

From MPO Gene-Phenotype Associations

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

abnormal primary ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal primary ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ovarian secretion Gene Set

From MPO Gene-Phenotype Associations

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

impaired ovarian folliculogenesis Gene Set

From MPO Gene-Phenotype Associations

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

increased mature ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased mature ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased secondary ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased secondary ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ovarian follicle morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ovarian follicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent primordial ovarian follicles Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent primordial ovarian follicles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal secondary ovarian follicle morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal secondary ovarian follicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased primary ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased primary ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent ovarian follicles Gene Set

From MPO Gene-Phenotype Associations

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

decreased mature ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased mature ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal secondary ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal secondary ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ovarian folliculogenesis Gene Set

From MPO Gene-Phenotype Associations

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

abnormal primary ovarian follicle morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal primary ovarian follicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal mature ovarian follicle morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mature ovarian follicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased ovarian teratoma incidence Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased ovarian teratoma incidence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ovarian follicle number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ovarian follicle number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

polyovular ovarian follicle Gene Set

From MPO Gene-Phenotype Associations

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

increased ovarian carcinoma incidence Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased ovarian carcinoma incidence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent mature ovarian follicles Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent mature ovarian follicles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{breast-ovarian cancer, familial, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {breast-ovarian cancer, familial, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

?premature ovarian failure 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?premature ovarian failure 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian cancer, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian cancer, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

{breast-ovarian cancer, familial, susceptibility to, 4} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {breast-ovarian cancer, familial, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset.

{ovarian cancer, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {ovarian cancer, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

adenocarcinoma, ovarian, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the adenocarcinoma, ovarian, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian dysgenesis 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian dysgenesis 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian dysgenesis 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian dysgenesis 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian dysgenesis 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian dysgenesis 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

{breast-ovarian cancer, familial, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {breast-ovarian cancer, familial, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

leukoencephalopathy, progressive, with ovarian failure Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy, progressive, with ovarian failure phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian carcinoma, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian carcinoma, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

{breast-ovarian cancer, familial, susceptibility to, 3} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {breast-ovarian cancer, familial, susceptibility to, 3} phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian carcinoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian carcinoma phenotype from the curated OMIM Gene-Disease Associations dataset.

premature ovarian failure Gene Set

From OMIM Gene-Disease Associations

genes associated with the premature ovarian failure phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian cancer, somatic, Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian cancer, somatic, phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian response to fsh stimulation Gene Set

From OMIM Gene-Disease Associations

genes associated with the ovarian response to fsh stimulation phenotype from the curated OMIM Gene-Disease Associations dataset.

{ovarian cancer, somatic} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {ovarian cancer, somatic} phenotype from the curated OMIM Gene-Disease Associations dataset.

ovarian Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term ovarian in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

immature ovarian follicle Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue immature ovarian follicle from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

mature ovarian follicle Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue mature ovarian follicle from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ovarian follicle Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue ovarian follicle from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ovarian surface epithelial cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian surface epithelial cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian surface epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian surface epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian theca-interstitial cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian theca-interstitial cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian serous adenocarcinoma cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian serous adenocarcinoma cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian cyst Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian cyst in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian cumulus cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian cumulus cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian surface epithelial cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian surface epithelial cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

immature ovarian follicle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue immature ovarian follicle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian serous carcinoma cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian serous carcinoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian fluid Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian fluid in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian cyst fluid Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian cyst fluid in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

mature ovarian follicle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue mature ovarian follicle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian epithelial cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian epithelial cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

epithelial ovarian cancer cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue epithelial ovarian cancer cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

ovarian follicle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ovarian follicle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Ovarian Infertility Genes(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Ovarian Infertility Genes(Mus musculus) pathway from the Wikipathways Pathways dataset.

Ovarian Infertility Genes(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Ovarian Infertility Genes(Homo sapiens) pathway from the Wikipathways Pathways dataset.

ovarian epithelial carcinoma Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease ovarian epithelial carcinoma from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

ovarian cancer Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease ovarian cancer from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From 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.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.

amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

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

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

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

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

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

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

Branchiootic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 3, with hypocalciuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple synostoses syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sjögren-Larsson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hennekam lymphangiectasia-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UV-sensitive syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib-polydactyly syndrome, Majewski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Char syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Fragile X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Shwachman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Greig cephalopolysyndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Fraser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Needles syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiootorenal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PTEN hamartoma tumor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lesch-Nyhan syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculofaciocardiodental syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow Sorauf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow Sorauf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

17q2131 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Macrocephaly/autism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mohr-Tranebjaerg syndrome Gene