List of Diseases
This is a list of diseases that are strongly associated with genes that the BMRB and PDB have spectroscopy data on. Select a disease to see a list of associated genes.
Cancers and Benign Tumors
- Adult T-Cell Leukemia
- Benign Mesothelioma
- Breast cancer
- Brooke-Spiegler syndrome
- Cancer
- Colorectal Cancer
- Cowden syndrome
- Endometrial Cancer
- Familial adenomatous polyposis
- Gastrointestinal stromal tumor
- Gestational trophoblastic neoplasm
- Leukemia
- Li-Fraumeni syndrome
- Lung cancer
- Lymphoma
- Lynch syndrome
- Melanoma
- Neurilemmoma
- Neuroblastoma
- Neurofibromatosis
- Paraganglioma
- Parathyroid adenoma
- Peripheral primitive neuroectodermal tumor (Ewing sarcoma)
- Peutz-Jeghers syndrome
- Pilomatricoma
- Pituitary adenoma
- Prostate Cancer
- Tuberous sclerosis
- Urinary bladder cancer
- Von Hippel-Lindau Disease
Circulatory System Diseases
- Anemia
- Antiphospholipid syndrome
- Aortic Aneurysm
- Argininosuccinic aciduria
- Arrhythmogenic Right Ventricular Dysplasia
- Atherosclerosis
- Atrial heart septal defect
- Behcet's Syndrome
- Bernard-Soulier syndrome
- Brugada syndrome
- Cerebrovascular accident (Stroke)
- Citrullinemia
- Congenital afibrinogenemia
- Congenital Heart Block
- Coronary Artery Disease (CAD)
- Coronary heart disease
- Diamond-Blackfan anemia
- Disseminated intravascular coagulation
- Erythropoietic Protoporphyria
- Esophageal varix
- Factor VII deficiency
- Factor XII (Hageman factor) deficiency
- Familial Atrial Fibrillation
- Fanconi anemia
- Glanzmann thrombasthenia
- Glucose-6-phosphate dehydrogenase deficiency
- Heart disease
- Hemophilia B
- Hemorrhagic disease of the newborn
- Hepatoerythropoietic porphyria
- Hereditary Coproporphyria
- Hereditary elliptocytosis
- Hereditary spherocytosis
- Hypertension
- Intermediate Coronary Syndrome
- Kawasaki Disease
- Leukopenia
- Long QT Syndrome
- Methemoglobinemia
- Myocardial infarction (Heart Attack)
- Pernicious anemia
- Polycythemia vera
- Pre-eclampsia (High Blood Pressure in Pregnancy)
- Protein S deficiency
- Pulmonary Embolism
- Sick sinus syndrome
- Sickle Cell Anemia
- Thalassemia
- Thrombocytopenia (Dyserythropoietic anemia)
- Thrombophilia
- Thrombotic thrombocytopenic purpura
- Vascular Diseases
- Vasculitis
- Von Willebrand disease
- X-linked sideroblastic anemia
Connective Tissue Diseases
- Arthritis
- Atopic dermatitis
- Cataract
- Congenital ichthyosiform erythroderma
- Cutis laxa
- Distal arthrogryposis
- Ehlers-Danlos syndrome
- Fibrodysplasia ossificans progressiva
- Loeys-Dietz syndrome
- Marfan syndrome
- Mixed connective tissue disease
- Neutropenia
- Osteoarthritis
- Osteochondrodysplasias
- Osteogenesis imperfecta
- Periodontitis
- Psoriatic Arthritis
- Rheumatoid arthritis
- Systemic lupus erythematosus
- Weill-Marchesani syndrome
Digestive System Diseases and Metabolic Diseases
- 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)
- Acatalasemia
- Acute Intermittent Porphyria
- Alagille syndrome
- Amyloidosis
- Berardinelli-Seip congenital lipodystrophy
- Beta-ketothiolase deficiency
- Celiac disease
- Cholesteryl ester storage disease
- Constipation
- Diarrhea
- Dyspepsia
- Esophageal atresia
- Exocrine pancreatic insufficiency (EPI)
- Familial combined hyperlipidemia
- Familial lipoprotein lipase deficiency
- Galactosemia
- Gangliosidoses
- Gastritis
- Gastroesophageal reflux disease (GERD)
- Gaucher's disease
- Glycogen storage disease
- Hereditary fructose intolerance
- Hiatus Hernia
- Hirschsprung's disease
- Histidinemia
- Homocarnosinosis
- Homocystinuria
- Intrahepatic cholestasis
- Irritable Bowel Syndrome
- Isovaleric acidemia
- Lesch-Nyhan syndrome
- Liver Disease
- Maple syrup urine disease
- Methylmalonic acidemia
- Mevalonic aciduria
- Ornithine transcarbamylase deficiency
- Pancreatitis
- Peptic Ulcer
- Peroxisomal Disorders
- Phenylketonuria
- Polycystic liver disease
- Propionic acidemia
- Pyruvate carboxylase deficiency
- Tyrosinemia
- Wolman disease
Endocrine System Diseases
- Acromegaly
- Addison's disease
- Androgen insensitivity syndrome
- Autoimmune Thyroiditis
- Congenital hyperinsulinism
- Congenital hypothyroidism
- Conn's Syndrome
- Cushing's Syndrome
- Diabetes
- Donohue syndrome
- Hyperaldosteronism
- Hyperandrogenism (Mullerian aplasia)
- Hyperargininemia
- Hypercalcemia
- Hyperglycemia
- Hypermethioninemia
- Hyperparathyroidism
- Hyperphosphatemia
- Hyperprolactinemia
- Hyperthyroidism
- Hypoglycemia
- Hypoparathyroidism
- Hypophosphatemia
- Hypopituitarism
- Hypothyroidism
- Inappropriate Antidiuretic Hormone Syndrome
- Pseudohypoaldosteronism
- Pseudohypoparathyroidism
Excretory System Diseases
- Alkaptonuria
- Denys-Drash syndrome
- Frasier syndrome
- Gout
- Graves' disease
- Interstitial nephritis
- Kidney Disease
- Kidney Failure
- LCAT deficiency
- Nephrogenic diabetes insipidus
- Nephronophthisis (Medullary cystic kidney disease)
- Neurohypophyseal diabetes insipidus
- Polycystic kidney disease
- Primary hyperoxaluria
- Proteinuria
- Renal Osteodystrophy
- Renal Tubular Acidosis
- Wilson Disease
Immune System Diseases
- Agammaglobulinemia
- Autoimmune lymphoproliferative syndrome
- Chronic granulomatous disease
- Common variable immune deficiency
- DiGeorge Syndrome
- Eosinophilia
- Eosinophilic Esophagitis (EOE)
- Hemophagocytic lymphohistiocytosis
- Hereditary angioedema
- Hypersensitivity reaction type I disease
- Hypersensitivity reaction type II disease
- Immunoglobulin Alpha Deficiency
- Langerhans cell histiocytosis
- Leukocyte adhesion deficiency
- Lymphedema
- Severe combined immunodeficiency (SCID)
- Wiskott-Aldrich syndrome
Muscular Diseases
- Bethlem myopathy
- Brody myopathy
- Cardiomyopathy
- Congenital Myasthenic syndrome
- Cystic Fibrosis
- Dilated cardiomyopathy
- Emery-Dreifuss muscular dystrophy
- Familial hypertrophic cardiomyopathy
- Guillain-Barre syndrome
- LAMA2-related muscular dystrophy
- Limb-girdle muscular dystrophy
- Myopathy
- Myotonic dystrophy
- Nemaline myopathy
- Progressive external ophthalmoplegia
- Ullrich congenital muscular dystrophy
Nervous System Diseases and Mental Diseases
- 2-hydroxyglutaric aciduria
- Achromatopsia
- AGAT deficiency
- Age-related macular degeneration
- Aicardi-Goutieres syndrome
- Alzheimer's disease
- Amyotrophic Lateral Sclerosis (ALS)
- Angelman syndrome
- Aniridia
- Aphasia
- Apraxia
- Aspartylglucosaminuria
- Ataxia Telangiectasia
- Axenfeld-Rieger syndrome
- Axonal neuropathy
- Bardet-Biedl syndrome
- Benign Rolandic Epilepsy
- Bipolar Disorder
- Blepharophimosis (BPES)
- Brain edema
- Carpal Tunnel Syndrome
- Cerebellar ataxia
- Charcot-Marie-Tooth Disease
- Choroideremia
- Coloboma
- Corneal Disease
- Corneal Dystrophy
- Creutzfeldt-Jakob Disease
- Degenerative Nerve Diseases
- Dentatorubral-pallidoluysian atrophy (DRPLA)
- Dyslexia
- Dystonia
- Encephalopathy
- Epilepsy
- Essential tremor
- Exophthalmos
- Exudative vitreoretinopathy
- Eye Diseases
- Fragile X Syndrome
- Friedreich's Ataxia
- Frontotemporal Dementia
- Gerstmann-Straussler-Scheinker Disease
- Gilles de la Tourette syndrome (Tourette's Syndrome)
- Glaucoma
- Glycine encephalopathy
- Gyrate atrophy
- Hallervorden-Spatz disease
- Hereditary Spastic Paraplegia
- Holoprosencephaly
- Huntington's disease
- Intellectual disability
- Isolated Duane retraction syndrome
- Krabbe disease
- Kuru encephalopathy
- Leber congenital amaurosis
- Leigh's Disease
- Leukodystrophy
- Lissencephaly
- Metachromatic leukodystrophy
- Microcephaly
- Microphthalmia
- Migraine
- Motor Neuron Disease
- Multiple Sclerosis (MS)
- Muscular Atrophy
- Myasthenia Gravis
- Narcolepsy
- Neuritis
- Neuromyelitis optica
- Neuronal Ceroid-Lipofuscinoses
- Neuropathy
- Night blindness
- Nonsyndromic deafness
- Pain agnosia (Congenital insensitivity to pain)
- Paraplegia (Paralysis)
- Parkinson's Disease
- Prion Diseases
- Refsum disease
- Restless Leg Syndrome
- Retinitis pigmentosa
- Rett Syndrome
- Sandhoff disease
- Schizophrenia
- Sensorineural hearing loss
- Sleep Disorders
- Sneddon syndrome
- Spinocerebellar ataxia
- Spondyloepimetaphyseal dysplasia
- Trichotillomania
- Usher syndrome
- Vitelliform macular dystrophy
- Xeroderma pigmentosum
Skeletal System Diseases
- Acrocephalosyndactylia
- Amelogenesis imperfecta
- Ankylosing Spondylitis
- Baller-Gerold syndrome
- Beare-Stevenson cutis gyrata syndrome
- Bone Marrow Diseases
- Boomerang dysplasia
- Brachyolmia
- Cherubism
- Craniosynostosis
- Crouzon syndrome
- Fibrous Dysplasia
- Juvenile primary osteoporosis
- Larsen syndrome
- Multiple epiphyseal dysplasia
- Myelofibrosis
- Osteitis fibrosa
- Osteomalacia
- Osteopetrosis
- Osteoporosis
- Paget's Disease of Bone
- Pfeiffer syndrome
- Pseudoachondroplasia
- Rickets
- Saethre-Chotzen syndrome
- Stickler syndrome
- Thanatophoric dysplasia
- Weaver syndrome
Systemic and Other Diseases
- Aarskog-Scott syndrome
- Achondroplasia (Dwarfism)
- Anhidrosis
- Bannayan-Riley-Ruvalcaba syndrome
- Bart-Pumphrey syndrome
- Beckwith-Wiedemann syndrome
- Bloom syndrome
- Bowen-Conradi syndrome
- Branchiootorenal syndrome
- Campomelic dysplasia
- Carney complex
- Cockayne syndrome
- Coffin-Lowry syndrome
- Congenital disorder of glycosylation
- Cornelia de Lange syndrome
- Costello syndrome
- Dacryocystitis
- Down Syndrome
- Dyskeratosis congenita
- Epidermolysis bullosa
- Epidermolytic hyperkeratosis
- Familial Mediterranean fever
- Fetal alcohol syndrome
- Greig cephalopolysyndactyly syndrome
- Hemochromatosis
- Hereditary mucosal leukokeratosis (white sponge nevus)
- Heterotaxy
- Hypochondroplasia
- Hypotrichosis
- Job syndrome
- Johanson-Blizzard Syndrome
- Kallmann syndrome
- Lacrimo-auriculo-dento-digital (LADD) syndrome
- Laron syndrome
- Laryngitis
- Lowe syndrome
- Lymphangioleiomyomatosis (LAM)
- Malignant hyperthermia
- McCune-Albright syndrome
- Menkes Disease
- Mucopolysaccharidosis
- MULIBREY nanism
- Multiple lentigines syndrome (LEOPARD syndrome)
- Nail Disease
- Netherton syndrome
- Nicotine dependence
- Niemann-Pick disease
- Nijmegen breakage syndrome
- Noonan syndrome
- Obesity
- Oculocutaneous albinism
- Pallister-Hall syndrome
- Palmoplantar keratosis (Palmoplantar keratoderma)
- Poland syndrome
- Porphyria cutanea tarda
- Progeria
- Pyoderma gangrenosum
- Rhizomelic chondrodysplasia punctata
- Roberts syndrome
- Rothmund-Thomson syndrome
- Rubinstein-Taybi syndrome
- Russell-Silver syndrome
- Sarcoidosis
- Skin Disease
- Succinic semialdehyde dehydrogenase deficiency
- Systemic scleroderma
- Timothy syndrome
- Tooth Agenesis
- Transcobalamin II deficiency
- Trichothiodystrophy
- Urticaria (Hives)
- Velocardiofacial Syndrome
- Vitiligo
- Waardenburg syndrome
- WAGR Syndrome
- Werner syndrome
- Williams syndrome
- Wolf-Hirschhorn syndrome