ENSG00000121879


Homo sapiens

Features
Gene ID: ENSG00000121879
  
Biological name :PIK3CA
  
Synonyms : P42336 / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha / PIK3CA
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q26.32
Gene start: 179148114
Gene end: 179240093
  
Corresponding Affymetrix probe sets: 204369_at (Human Genome U133 Plus 2.0 Array)   231854_at (Human Genome U133 Plus 2.0 Array)   235980_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000417479
Ensembl peptide - ENSP00000493507
Ensembl peptide - ENSP00000418145
Ensembl peptide - ENSP00000263967
NCBI entrez gene - 5290     See in Manteia.
OMIM - 171834
RefSeq - XM_006713658
RefSeq - XM_011512894
RefSeq - NM_006218
RefSeq Peptide - NP_006209
swissprot - P42336
swissprot - C9JAM9
swissprot - C9J951
Ensembl - ENSG00000121879
  
Related genetic diseases (OMIM): 114480 - Breast cancer, somatic, 114480
  612918 - CLOVE syndrome, somatic, 612918
  114500 - Colorectal cancer, somatic, 114500
  615108 - Cowden syndrome 5, 615108
  613659 - Gastric cancer, somatic, 613659
  114550 - Hepatocellular carcinoma, somatic, 114550
  182000 - Keratosis, seborrheic, somatic, 182000
  602501 - Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501
  162900 - Nevus, epidermal, somatic, 162900
  211980 - Nonsmall cell lung cancer, somatic, 211980
  167000 - Ovarian cancer, somatic, 167000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pik3caENSDARG00000075456Danio rerio
 PIK3CAENSGALG00000008934Gallus gallus
 P42337ENSMUSG00000027665Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit deltaENSG0000017160840
P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit betaENSG0000005138240
P48736 / PIK3CG / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gammaENSG0000010585131
O00443 / PIK3C2A / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alphaENSG0000001140525
O00750 / PIK3C2B / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 betaENSG0000013305625
O75747 / PIK3C2G / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gammaENSG0000013914423
PIK3C3 / Q8NEB9 / phosphatidylinositol 3-kinase catalytic subunit type 3ENSG0000007814218


Protein motifs (from Interpro)
Interpro ID Name
 IPR000341  Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain
 IPR000403  Phosphatidylinositol 3-/4-kinase, catalytic domain
 IPR001263  Phosphoinositide 3-kinase, accessory (PIK) domain
 IPR002420  Phosphatidylinositol 3-kinase, C2 domain
 IPR003113  Phosphatidylinositol 3-kinase adaptor-binding (PI3K ABD) domain
 IPR008290  Phosphatidylinositol 3-kinase, Vps34 type
 IPR011009  Protein kinase-like domain superfamily
 IPR015433  Phosphatidylinositol kinase
 IPR016024  Armadillo-type fold
 IPR018936  Phosphatidylinositol 3/4-kinase, conserved site
 IPR029071  Ubiquitin-like domain superfamily
 IPR035892  C2 domain superfamily
 IPR036940  Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001944 vasculature development TAS
 biological_processGO:0002250 adaptive immune response IBA
 biological_processGO:0006006 glucose metabolic process IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006661 phosphatidylinositol biosynthetic process TAS
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0006954 inflammatory response IBA
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0014065 phosphatidylinositol 3-kinase signaling IBA
 biological_processGO:0016242 negative regulation of macroautophagy NAS
 biological_processGO:0016310 phosphorylation IDA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0031295 T cell costimulation TAS
 biological_processGO:0032008 positive regulation of TOR signaling NAS
 biological_processGO:0032147 activation of protein kinase activity IEA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IEA
 biological_processGO:0036092 phosphatidylinositol-3-phosphate biosynthetic process IEA
 biological_processGO:0038028 insulin receptor signaling pathway via phosphatidylinositol 3-kinase TAS
 biological_processGO:0038095 Fc-epsilon receptor signaling pathway TAS
 biological_processGO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS
 biological_processGO:0038128 ERBB2 signaling pathway TAS
 biological_processGO:0040014 regulation of multicellular organism growth IEA
 biological_processGO:0043276 anoikis NAS
 biological_processGO:0043457 regulation of cellular respiration IEA
 biological_processGO:0043491 protein kinase B signaling IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0043542 endothelial cell migration TAS
 biological_processGO:0044029 hypomethylation of CpG island IEA
 biological_processGO:0045087 innate immune response IBA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048010 vascular endothelial growth factor receptor signaling pathway TAS
 biological_processGO:0048015 phosphatidylinositol-mediated signaling IEA
 biological_processGO:0050852 T cell receptor signaling pathway TAS
 biological_processGO:0050900 leukocyte migration TAS
 biological_processGO:0051897 positive regulation of protein kinase B signaling TAS
 biological_processGO:0060048 cardiac muscle contraction TAS
 biological_processGO:0060326 cell chemotaxis IBA
 biological_processGO:0060612 adipose tissue development IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0097009 energy homeostasis IEA
 biological_processGO:2000270 negative regulation of fibroblast apoptotic process IEA
 biological_processGO:2000653 regulation of genetic imprinting IEA
 biological_processGO:2000811 negative regulation of anoikis IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005942 phosphatidylinositol 3-kinase complex IEA
 cellular_componentGO:0005943 phosphatidylinositol 3-kinase complex, class IA IDA
 cellular_componentGO:0030027 lamellipodium IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016303 1-phosphatidylinositol-3-kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0030295 protein kinase activator activity IEA
 molecular_functionGO:0035004 phosphatidylinositol 3-kinase activity ISS
 molecular_functionGO:0035005 1-phosphatidylinositol-4-phosphate 3-kinase activity IBA
 molecular_functionGO:0043560 insulin receptor substrate binding IEA
 molecular_functionGO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS


Pathways (from Reactome)
Pathway description
PI3K Cascade
IRS-mediated signalling
GPVI-mediated activation cascade
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
PI3K events in ERBB4 signaling
PIP3 activates AKT signaling
Signaling by SCF-KIT
Synthesis of PIPs at the plasma membrane
GAB1 signalosome
Signaling by cytosolic FGFR1 fusion mutants
Downstream signal transduction
PI3K events in ERBB2 signaling
PI3K/AKT activation
Downstream TCR signaling
Role of phospholipids in phagocytosis
Tie2 Signaling
Constitutive Signaling by Aberrant PI3K in Cancer
DAP12 signaling
Role of LAT2/NTAL/LAB on calcium mobilization
Nephrin family interactions
Costimulation by the CD28 family
CD28 dependent PI3K/Akt signaling
G alpha (q) signalling events
G alpha (12/13) signalling events
VEGFA-VEGFR2 Pathway
Interleukin-3, Interleukin-5 and GM-CSF signaling
Constitutive Signaling by EGFRvIII
PI-3K cascade:FGFR1
PI-3K cascade:FGFR2
PI-3K cascade:FGFR3
PI-3K cascade:FGFR4
Signaling by FGFR2 in disease
Signaling by FGFR4 in disease
Signaling by FGFR1 in disease
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
MET activates PI3K/AKT signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants in cancer
RET signaling
Activated NTRK2 signals through PI3K
Interleukin receptor SHC signaling
Regulation of signaling by CBL
Activated NTRK3 signals through PI3K


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000034 Hydrocele 
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 HP:0000036 Abnormality of the penis 
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 HP:0000105 Enlarged kidneys 
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 HP:0000138 Ovarian cysts 
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 HP:0000154 Wide mouth "Abnormally wide mouth." [HPO:curators]
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 HP:0000158 Macroglossia "Increased length and width of the tongue." [pmid:19125428]
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000221 Furrowed tongue "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428]
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 HP:0000238 Hydrocephalus 
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000293 Full cheeks 
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 HP:0000316 Hypertelorism 
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 HP:0000319 Flat philtrum 
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 HP:0000324 Facial asymmetry 
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 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000490 Deep set eyes 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000505 Impaired vision 
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000545 Myopia 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000717 Autism 
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 HP:0000737 Irritability 
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 HP:0000738 Hallucinations 
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 HP:0000739 Anxiety 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000771 Gynecomastia 
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 HP:0000821 Hypothyroidism 
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 HP:0000836 Hyperthyroidism "Hyperthyroidism refers to excessive secretion of thyroid hormone." [HPO:curators]
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 HP:0000853 Goiter "An enlargement of the thyroid gland." [HPO:curators]
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 HP:0000854 Thyroid adenoma 
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 HP:0000965 Cutis marmorata 
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 HP:0000972 Palmoplantar hyperkeratosis "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0000995 Pigmented nevi "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators]
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 HP:0001012 Lipomas "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:curators]
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 HP:0001031 Subcutaneous lipomas 
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 HP:0001034 Hyperpigmented macules 
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 HP:0001048 Cavernous hemangioma "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:curators]
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 HP:0001051 Seborrheic dermatitis "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators]
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 HP:0001052 Nevus flammeus "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken]
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 HP:0001053 Hypopigmented skin patches 
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 HP:0001054 Numerous nevi 
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 HP:0001102 Angioid streaks 
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 HP:0001123 Visual field defects 
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 HP:0001156 Brachydactyly 
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 HP:0001159 Syndactyly "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001161 Polydactyly (hands) 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001355 Megalencephaly "The presence of an unusually large, and usually malfunctioning brain." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001388 Joint laxity 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001413 Micronodular cirrhosis 
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 HP:0001425 Heterogeneous 
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 HP:0001428 Somatic mutation 
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 HP:0001482 Subcutaneous nodules 
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 HP:0001508 Failure to thrive 
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 HP:0001522 Death in infancy 
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 HP:0001528 Hemihypertrophy 
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 HP:0001548 Overgrowth 
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 HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the heart or vasculature." [HPO:curators]
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 HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0001829 Polydactyly (feet) 
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 HP:0001852 Gap between first and second toes "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators]
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 HP:0001909 Leukemia "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002017 Nausea and vomiting 
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 HP:0002019 Constipation 
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 HP:0002024 Malabsorption 
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 HP:0002027 Abdominal pain 
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 HP:0002076 Migraine 
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 HP:0002080 Intention tremor "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0002126 Polymicrogyria "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators]
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 HP:0002144 Tethered cord "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators]
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002253 Colon diverticula 
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 HP:0002308 Arnold-Chiari malformation "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators]
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 HP:0002354 Memory impairment 
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 HP:0002376 Developmental regression 
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 HP:0002389 Cavum septum pellucidum "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators]
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 HP:0002516 Increased intracranial pressure 
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 HP:0002624 Venous abnormalities 
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 HP:0002637 Cerebral ischemia 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002667 Nephroblastoma (Wilms tumor) "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators]
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 HP:0002671 Basal cell carcinoma 
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 HP:0002808 Kyphosis 
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 HP:0002858 Meningioma 
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 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002891 Uterine leiomyosarcoma 
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 HP:0002893 Pituitary adenoma 
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 HP:0003002 Breast cancer 
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 HP:0003003 Colon cancer 
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 HP:0003006 Neuroblastoma "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:curators]
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0003745 Sporadic 
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 HP:0003764 Abnormal or excess nevi 
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 HP:0004099 Macrodactyly 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004374 Hemiplegia/hemiparesis "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators]
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 HP:0004390 Hamartomatous polyps "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestine. Patients with Cowden-Syndrom for example often have multpile hamartomatous gastrointestinal polyps." [HPO:curators]
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 HP:0004437 Cranial hyperostosis "Excessive growth of the cranial bones." [HPO:curators]
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 HP:0004481 Macrocephaly, progressive "The progressive development of an abnormally large skull." [HPO:curators]
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005374 Cellular immunodeficiency 
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 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
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 HP:0005595 Hyperkeratosis, generalized 
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 HP:0005692 Joint hyperflexibility 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0006519 Alveolar cell carcinoma 
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 HP:0006572 Subacute progressive viral hepatitis 
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 HP:0006716 Hereditary nonpolyposis colorectal carcinoma 
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 HP:0006725 Pancreatic adenocarcinoma 
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 HP:0006731 Follicular thyroid carcinoma 
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 HP:0006740 Transitional cell carcinoma of the bladder 
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 HP:0006753 Increased gastric cancer 
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 HP:0006774 Ovarian papillary adenocarcinoma 
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 HP:0007018 Attention deficit hyperactivity disorder "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
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 HP:0007256 Mild pyramidal signs 
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 HP:0007360 Aplasia/Hypoplasia of the cerebellum 
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 HP:0007565 Multiple cafe-au-lait spots 
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 HP:0008551 Underdeveloped ears 
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 HP:0008675 Enlarged polycystic ovaries 
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 HP:0008678 Renal hypoplasia/aplasia 
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 HP:0009720 Adenoma sebaceum "Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis." [HPO:curators]
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 HP:0009748 Fleshy earlobes "Abnormally thickened or fleshy earlobes." [HPO:curators]
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 HP:0010301 Spinal dysraphism "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [HPO:curators]
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 HP:0010442 Polydactyly 
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 HP:0010524 Agnosia "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:curators]
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 HP:0010526 Dysgraphia "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators]
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 HP:0010609 Skin tags 
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 HP:0010619 Fibroma of the breast "A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman." [HPO:curators]
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 HP:0010622 Neoplasia of the skeletal system "`Neoplasia` (HP:0002664) affecting the `skeleton` (FMA:23875)." [HPO:probinson]
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 HP:0010714 2-4 toe syndactyly "`Syndactyly` (HP:0001159) with fusion of toes two to four." [HPO:sdoelken]
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 HP:0010786 Urinary tract neoplasia 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0012032 Lipoma "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417]
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 HP:0012062 Bone cyst "A fluid filled cavity that develops with a bone." [HPO:probinson]
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 HP:0012113 Abnormality of creatine metabolism "An anomaly of the concentration or homeostasis of `creatine` (CHEBI:16919). Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson]
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 HP:0012114 Endometrial carcinoma "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson]
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 HP:0012126 Stomach cancer "A cancer arising in any part of the stomach." [HPO:probinson]
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 HP:0012174 Glioblastoma multiforme "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, pmid:10841526]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012721 Venous malformation "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson]
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 HP:0012733 Macule "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson]
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 HP:0012740 Papilloma "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson]
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 HP:0012871 Varicocele "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum." [HPO:probinson]
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 HP:0012887 Ovarian serous cystadenoma "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [HPO:probinson, PMID:23766763]
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 HP:0025104 Capillary malformation "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)." [PMID:22483320, PMID:25864701]
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 HP:0040009 Hyperparakeratosis 
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 HP:0100026 Arteriovenous malformations 
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 HP:0100031 Neoplasm of the thyroid gland "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0100555 Asymmetric growth 
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 HP:0100559 Lower limb asymmetry 
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 HP:0100571 Cardiac diverticulum "A cardiac diverticulum is a rare congential malformation which is either fibrous or muscular." [HPO:sdoelken]
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 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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 HP:0100579 Mucosal telangiectasiae "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken]
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 HP:0100585 Teleangiectasia of the skin 
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 HP:0100613 Death in early adulthood 
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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 HP:0100621 Dysgerminoma "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." [HPO:sdoelken]
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 HP:0100646 Thyroiditis "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." [HPO:probinson]
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 HP:0100659 Abnormality of the cerebral vasculature 
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 HP:0100660 Dyskinesis "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken]
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 HP:0100743 Neoplasm of the rectum 
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 HP:0100761 Visceral angiomatosis 
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 HP:0100763 Abnormality of the lymphatic system 
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 HP:0100780 Conjunctival hamartomas 
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 HP:0100790 Hernia 
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 HP:0100835 Benign neoplasm of the central nervous system 
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 HP:0200008 Multiple intestinal polyps 
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 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
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 HP:0200043 verrucae "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER]
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 HP:0200063 Colorectal polyps 
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 HP:0410067 Increased level of L-fucose in urine "An increase in the level of L-fucose in the urine." [PMID:2311216]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000088256 GNA11 / P29992 / G protein subunit alpha 11  / complex / reaction
 ENSG00000091831 ESR1 / P03372 / estrogen receptor 1  / complex
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / reaction / complex
 ENSG00000049130 KITLG / P21583 / KIT ligand  / reaction / complex
 ENSG00000113525 IL5 / P05113 / interleukin 5  / reaction / complex
 ENSG00000112715 VEGFA / P15692 / vascular endothelial growth factor A  / complex / reaction
 ENSG00000128340 RAC2 / P15153 / Rac family small GTPase 2  / reaction / complex
 ENSG00000125650 PSPN / O60542 / persephin  / complex
 ENSG00000068078 FGFR3 / P22607 / fibroblast growth factor receptor 3  / complex / reaction
 ENSG00000091181 IL5RA / Q01344 / interleukin 5 receptor subunit alpha  / complex / reaction
 ENSG00000128052 KDR / P35968 / kinase insert domain receptor  / complex / reaction
 ENSG00000100368 CSF2RB / P32927 / colony stimulating factor 2 receptor beta common subunit  / complex / reaction
 ENSG00000060558 GNA15 / P30679 / G protein subunit alpha 15  / complex / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex / reaction
 ENSG00000134259 NGF / P01138 / nerve growth factor  / reaction / complex
 ENSG00000100311 PDGFB / P01127 / platelet derived growth factor subunit B  / reaction / complex
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / complex / reaction
 ENSG00000163600 ICOS / Q9Y6W8 / inducible T cell costimulator  / reaction / complex
 ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000117461 PIK3R3 / Q92569 / phosphoinositide-3-kinase regulatory subunit 3  / complex
 ENSG00000166710 B2M / P61769 / beta-2-microglobulin  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000163519 TRAT1 / Q6PIZ9 / T cell receptor associated transmembrane adaptor 1  / complex / reaction
 ENSG00000134853 P16234 / PDGFRA / platelet derived growth factor receptor alpha  / complex / reaction
 ENSG00000176697 BDNF / P23560 / brain derived neurotrophic factor  / complex
 ENSG00000205809 KLRC2 / P26717 / killer cell lectin like receptor C2  / reaction / complex
 ENSG00000213809 KLRK1 / P26718 / killer cell lectin like receptor K1  / reaction / complex
 ENSG00000114013 CD86 / P42081 / CD86 molecule  / complex / reaction
 ENSG00000113721 P09619 / PDGFRB / platelet derived growth factor receptor beta  / reaction / complex
 ENSG00000225950 NTF4 / P34130 / neurotrophin 4  / complex
 ENSG00000124882 EREG / O14944 / epiregulin  / reaction / complex
 ENSG00000178568 ERBB4 / Q15303 / erb-b2 receptor tyrosine kinase 4  / reaction / complex
 ENSG00000157168 NRG1 / Q02297 / neuregulin 1  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000121594 CD80 / P33681 / CD80 molecule  / reaction / complex
 ENSG00000162344 FGF19 / O95750 / fibroblast growth factor 19  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex / reaction
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000011600 O43914 / TYROBP / TYRO protein tyrosine kinase binding protein  / complex / reaction
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / complex / reaction
 ENSG00000178562 CD28 / P10747 / CD28 molecule  / complex / reaction
 ENSG00000197461 PDGFA / P04085 / platelet derived growth factor subunit A  / complex / reaction
 ENSG00000134962 KLB / Q86Z14 / klotho beta  / reaction / complex
 ENSG00000157404 KIT / P10721 / KIT proto-oncogene receptor tyrosine kinase  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000095970 TREM2 / Q9NZC2 / triggering receptor expressed on myeloid cells 2  / reaction / complex
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000141736 ERBB2 / P04626 / erb-b2 receptor tyrosine kinase 2  / complex / reaction
 ENSG00000186716 BCR / P11274 / BCR, RhoGEF and GTPase activating protein  / complex / reaction
 ENSG00000169752 NRG4 / Q8WWG1 / neuregulin 4  / reaction / complex
 ENSG00000198400 NTRK1 / P04629 / neurotrophic receptor tyrosine kinase 1  / complex / reaction
 ENSG00000133116 KL / klotho / Q9UEF7  / complex / reaction
 ENSG00000086730 LAT2 / Q9GZY6 / linker for activation of T cells family member 2  / reaction / complex
 ENSG00000105401 CDC37 / Q16543 / cell division cycle 37  / reaction / complex
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction
 ENSG00000198223 CSF2RA / P15509 / colony stimulating factor 2 receptor alpha subunit  / reaction / complex
 ENSG00000147475 ERLIN2 / O94905 / ER lipid raft associated 2  / reaction / complex
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex / reaction
 ENSG00000080824 P07900 / HSP90AA1 / heat shock protein 90 alpha family class A member 1  / reaction / complex
 ENSG00000174808 BTC / P35070 / betacellulin  / reaction / complex
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / reaction / complex
 ENSG00000066468 FGFR2 / P21802 / fibroblast growth factor receptor 2  / complex / reaction
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / complex / reaction
 ENSG00000065361 ERBB3 / P21860 / erb-b2 receptor tyrosine kinase 3  / reaction / complex
 ENSG00000185291 IL3RA / P26951 / interleukin 3 receptor subunit alpha  / reaction / complex
 ENSG00000164400 CSF2 / P04141 / colony stimulating factor 2  / reaction / complex
 ENSG00000160867 FGFR4 / P22455 / fibroblast growth factor receptor 4  / complex / reaction
 ENSG00000105976 MET / P08581 / MET proto-oncogene, receptor tyrosine kinase  / reaction / complex
 ENSG00000169047 IRS1 / P35568 / insulin receptor substrate 1  / reaction / complex
 ENSG00000130427 EPO / P01588 / erythropoietin  / complex / reaction
 ENSG00000187266 EPOR / P19235 / erythropoietin receptor  / complex / reaction
 ENSG00000077782 FGFR1 / P11362 / fibroblast growth factor receptor 1  / complex / reaction
 ENSG00000158458 NRG2 / O14511 / neuregulin 2  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / reaction / complex
 ENSG00000140538 NTRK3 / Q16288 / neurotrophic receptor tyrosine kinase 3  / reaction / complex
 ENSG00000118972 FGF23 / Q9GZV9 / fibroblast growth factor 23  / complex / reaction
 ENSG00000165025 SYK / P43405 / spleen associated tyrosine kinase  / reaction / complex
 ENSG00000177105 RHOG / P84095 / ras homolog family member G  / reaction / complex
 ENSG00000185652 NTF3 / P20783 / neurotrophin 3  / complex / reaction
 ENSG00000019991 HGF / P14210 / hepatocyte growth factor  / reaction / complex
 ENSG00000134539 KLRD1 / Q13241 / killer cell lectin like receptor D1  / reaction / complex
 ENSG00000166225 FRS2 / Q8WU20 / fibroblast growth factor receptor substrate 2  / reaction / complex
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / reaction / complex
 ENSG00000148053 NTRK2 / Q16620 / neurotrophic receptor tyrosine kinase 2  / complex
 ENSG00000164399 IL3 / P08700 / interleukin 3  / reaction / complex
 ENSG00000168546 GFRA2 / O00451 / GDNF family receptor alpha 2  / complex
 ENSG00000167601 AXL / P30530 / AXL receptor tyrosine kinase  / reaction / complex
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / reaction
 ENSG00000156052 GNAQ / P50148 / G protein subunit alpha q  / reaction / complex
 ENSG00000171119 NRTN / Q99748 / neurturin  / complex
 ENSG00000146013 GFRA3 / O60609 / GDNF family receptor alpha 3  / complex
 ENSG00000160654 CD3G / P09693 / CD3g molecule  / complex / reaction
 ENSG00000143226 FCGR2A / P12318 / Fc fragment of IgG receptor IIa  / complex / reaction
 ENSG00000125861 GFRA4 / Q9GZZ7 / GDNF family receptor alpha 4  / complex
 ENSG00000154188 ANGPT1 / Q15389 / angiopoietin 1  / complex / reaction
 ENSG00000165731 RET / P07949 / ret proto-oncogene  / complex
 ENSG00000168621 GDNF / P39905 / glial cell derived neurotrophic factor  / complex
 ENSG00000156049 GNA14 / O95837 / G protein subunit alpha 14  / reaction / complex
 ENSG00000198821 CD247 / P20963 / CD247 molecule  / reaction / complex
 ENSG00000164924 YWHAZ / P63104 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta  / reaction / complex
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / reaction / complex
 ENSG00000151892 GFRA1 / P56159 / GDNF family receptor alpha 1  / complex
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction / complex
 ENSG00000198087 CD2AP / Q9Y5K6 / CD2 associated protein  / reaction / complex
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / reaction
 ENSG00000203747 FCGR3A / P08637 / Fc fragment of IgG receptor IIIa  / reaction / complex
 ENSG00000150337 FCGR1A / P12314 / Fc fragment of IgG receptor Ia  / complex / reaction
 ENSG00000027869 Q9NP31 / SH2D2A / SH2 domain containing 2A  / complex / reaction
 ENSG00000117407 ARTN / Q5T4W7 / artemin  / complex
 ENSG00000211893 IGHG2 / P01859 / immunoglobulin heavy constant gamma 2 (G2m marker)  / reaction / complex
 ENSG00000120156 TEK / Q02763 / TEK receptor tyrosine kinase  / reaction / complex
 ENSG00000211896 IGHG1 / P01857 / immunoglobulin heavy constant gamma 1 (G1m marker)  / complex / reaction
 ENSG00000211892 IGHG4 / P01861 / immunoglobulin heavy constant gamma 4 (G4m marker)  / complex / reaction






 

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