PhosphoSitePlus Phosphosite-Disease Associations Dataset

Description disease-phosphosite associations curated from literature
Measurement association by literature curation
Association protein-disease associations where mutation of phosphosite on protein is implicated in disease
Category disease or phenotype associations
Resource PhosphoSitePlus
Citation(s)
Last Updated
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  1. 212 genes
  2. 140 diseases
  3. 356 gene-disease associations

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disease Gene Sets

140 sets of proteins associated with diseases from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Gene Set Description
acute lymphocytic leukemia A lymphoblastic leukemia that is characterized by over production of lymphoblasts.
acute lymphocytic leukemia; acute myelogenous leukemia; B cell lymphoma
acute lymphocytic leukemia; acute myelogenous leukemia; chronic myelogenous leukemia
acute lymphocytic leukemia; chronic myelogenous leukemia; leukemia
acute myelogenous leukemia
adrenocortical carcinoma An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
AIDS-related lymphoma
AIDS-related lymphoma; B cell lymphoma; Burkitt's lymphoma
ALS A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Alzheimer's disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
Alzheimer's disease; ALS
Alzheimer's disease; FTLD
Alzheimer's disease; schizophrenia disease cluster belonging to disease group neurological
angiosarcoma A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
ARVC An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
ASD autism spectrum
astrocytoma A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.
ataxia-telangiectasia OMIM mapping confirmed by DO. [SN].
ataxia-telangiectasic cancer
atherosclerosis
atrial fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
B cell lymphoma A non-Hodgkin lymphoma that has_material_basis_in B cells.
bipolar disprder
bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder.
Bloom's syndrome disease cluster belonging to disease group other
breast adenocarcinoma A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.
breast cancer A thoracic cancer that originates in the mammary gland.
breast cancer; colorectal cancer disease cluster belonging to disease group cancer
breast ductal carcinoma A breast carcinoma that derives_from the lining of milk ducts.
Burkitt's lymphoma A mature B-cell neoplasm of B-cells found in the germinal center.
cancer, squamous cell carcinoma
cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
CCM
cervical cancer A female reproductive organ cancer that is located_in the cervix.
cervical squamous cell carcinoma A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
chronic lymphocytic leukemia A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
chronic myelogenous leukemia A myeloid leukemia that is characterized by over production of white blood cells.
chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC)
colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum.
colorectal carcinoma disease cluster belonging to disease group cancer
Crohn disease An intestinal disease that involves inflammation located_in intestine.
cystic fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
DCM
diabetes mellitus
DM2
Down syndrome A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
DSPS
Emery-Dreifuss muscular dystrophy A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.
esophageal cancer A gastrointestinal system cancer that is located_in the esophagus.
esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Fanconi's anaemia
Fetal growth restriction
fibrosarcoma of soft tissue A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
FTLD
FTLD; ALS
gastric carcinoma A stomach cancer that is located_in the stomach.
GIST OMIM mapping confirmed by DO. [SN].
glioblastoma
glioblastoma multiforme An astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derived_from multiple cell types including astrocytes and oligondroctyes.
HAM/TSP
hepatitis
hepatitis B A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
HIV Encephalitis A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.|A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.
Hodgkin's lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Huntington's disease A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
idiopathic pulmonary fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
infertility
intraocular melanoma An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
Kaposi's sarcoma A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8).
kidney cancer A urinary system cancer that is located_in the kidney.
Lafora disease OMIM mapping confirmed by DO. [SN].
leukemia A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.
LGMD2A
liver cancer A gastrointestinal system cancer that is located_in the liver.
lung cancer A respiratory system cancer that is located_in the lung.
LVR; MI
lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
mantle cell lymphoma A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles.
Marfan syndrome OMIM mapping confirmed by DO. [SN].
medullary thyroid carcinoma A follicular thyroid carcinoma that has_material_basis_in parafollicular cells.
melanoma skin cancer disease cluster belonging to disease group cancer
mesothelioma
MI
MPPH1
myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
myotonic dystrophy type1 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_physical_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
myxoid liposarcoma OMIM mapping confirmed by DO. [SN].
nephrogenic diabetes insipidus An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells.
neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
non-small cell large cell lung carcinoma; non-small cell squamous cell lung carcinoma
non-small cell lung adenocarcinoma Type of epithelial lung cancer arising from glandular origin.
non-small cell lung cancer
Noonan syndrome OMIM mapping confirmed by DO. [SN].
obesity, hyperphagic
ovarian cancer A female reproductive organ cancer that is located_in the ovary.
ovarian epithelial carcinoma
pancreatic cancer An endocrine gland cancer located_in the pancreas.
pancreatic carcinoma A pancreas cancer that derives_from epithelial cells located_in the pancreas.
papillary thyroid carcinoma; follicular thyroid carcinoma; anaplastic thyroid carcinoma
Parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Parkinson's disease; ALS
PEL Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).
prostate cancer A male reproductive organ cancer that is located_in the prostate.
psoriasis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
PSP
pulmonary emphysema
retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
rhabdomyosarcoma A skeletal muscle cancer that arise from skeletal muscle progenitors.
rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
RIDDLE syndrome
schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
scleroderma A rheumatic disease and collagen disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.
sickle-cell anaemia
SLE disease cluster belonging to disease group immune
small-cell lung cancer
spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
spinocerebellar ataxia type 14 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.
sporadic inclusion-body myositis disease cluster belonging to disease group unknown
Status epilepticus; CSWSS
synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
synucleinopathy; Parkinson's disease
T cell leukemia
testicular cancer A male reproductive system cancer that is located_in the testicles.
thymic carcinoma A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found.
tuberous sclerosis OMIM mapping confirmed by DO. [LS].
type 2 diabetes disease cluster belonging to disease group metabolic
type 2 diabetes; Alzheimer's disease
urethral cancer; brain cancer; colorectal cancer
ventricular tachycardia
ventricular tachycardia; hypertrophic cardiomyopathy
vesicoureteral reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
VHL
Waardenburg syndrome type 2 Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum
Wilm's tumor
X-linked agammaglobulinaemia
X-linked hypophosphatemia A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene.
Xeroderma pigmentosum An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
XLP