Chaperone (nonspecified subtype) Related Diseases

Chaperone (nonspecified subtype)

Related Diseases

1) Congenital Disorders Of Glycosylation
Congenital Disorder of Glycosylation, Type in, also known as congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type im and congenital disorder of glycosylation, type iim, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways/superpathways are Metabolism of proteins and Disease. The drugs Acetazolamide and Sorbitol have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and heart, and related phenotypes are global developmental delay and seizure

2) Inborn Errors Of Metabolism
Inherited Metabolic Disorder, also known as inborn errors of metabolism, is related to phenylketonuria and carbohydrate metabolic disorder. An important gene associated with Inherited Metabolic Disorder is TKFC (Triokinase And FMN Cyclase), and among its related pathways/superpathways are Cell differentiation - expanded index and Interactions between immune cells and microRNAs in tumor microenvironment. The drugs Bezafibrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, liver and t cells.

3) Huntington's Disease
Huntington Disease, also known as huntington's disease, is related to huntington disease-like 1 and choreatic disease, and has symptoms including back pain, headache and myoclonus. An important gene associated with Huntington Disease is HTT (Huntingtin), and among its related pathways/superpathways is miRNAs involved in DNA damage response. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include Brain, eye and globus pallidus, and related phenotypes are chorea and mental deterioration

4) Alpha-mannosidosis
Mannosidosis, Alpha B, Lysosomal, also known as alpha-mannosidosis, is related to mannosidosis, beta a, lysosomal and angiokeratoma, and has symptoms including muscle spasticity and gait ataxia. An important gene associated with Mannosidosis, Alpha B, Lysosomal is MAN2B1 (Mannosidase Alpha Class 2B Member 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Sorbitol and Glycine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and tongue, and related phenotypes are intellectual disability and macroglossia

5) Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C1, also known as niemann-pick disease, type c, is related to niemann-pick disease type c, juvenile neurologic onset and niemann-pick disease type c, adult neurologic onset, and has symptoms including cerebellar ataxia, muscle spasticity and seizures. An important gene associated with Niemann-Pick Disease, Type C1 is NPC1 (NPC Intracellular Cholesterol Transporter 1), and among its related pathways/superpathways are Neuroscience and "Plasma lipoprotein assembly, remodeling, and clearance". The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone marrow and liver, and related phenotypes are dysphagia and jaundice

6) Alpha-1 Antitrypsin Deficiency
Alpha-1-Antitrypsin Deficiency, also known as alpha 1-antitrypsin deficiency, is related to pulmonary disease, chronic obstructive and pulmonary emphysema, and has symptoms including coughing, hemoptysis and snoring. An important gene associated with Alpha-1-Antitrypsin Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways/superpathways are Diseases of hemostasis and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Pharmaceutical Solutions and Dimercaprol have been mentioned in the context of this disorder. Affiliated tissues include Liver, lung and skin, and related phenotypes are emphysema and hepatic failure

7) Diabetes Type 2
Type 2 Diabetes Mellitus, also known as insulin resistance, is related to diabetes mellitus and maturity-onset diabetes of the young, type 8, with exocrine dysfunction, and has symptoms including angina pectoris, tremor and equilibration disorder. An important gene associated with Type 2 Diabetes Mellitus is IRS1 (Insulin Receptor Substrate 1), and among its related pathways/superpathways are Nervous system development and Angiopoietin-like protein 8 regulatory pathway. The drugs Glipizide and Glycopyrronium have been mentioned in the context of this disorder. Affiliated tissues include Pancreas and Adipose, and related phenotypes are type ii diabetes mellitus and insulin resistance

8) Polycystic Kidney, Autosomal Dominant
Autosomal Dominant Polycystic Kidney Disease, also known as polycystic kidney disease, adult type, is related to polycystic kidney disease and polycystic kidney disease 1 with or without polycystic liver disease. An important gene associated with Autosomal Dominant Polycystic Kidney Disease is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are MicroRNAs in cardiomyocyte hypertrophy and mTOR Signaling. The drugs Candesartan cilexetil and Curcumin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and pancreas, and related phenotypes are renal cyst and decreased glomerular filtration rate

9) Glioblastoma Multiforme
Glioblastoma, also known as glioblastoma multiforme, is related to brain cancer and glioma, and has symptoms including headache and seizures. An important gene associated with Glioblastoma is MIR21 (MicroRNA 21), and among its related pathways/superpathways is miRNAs involved in DNA damage response. The drugs Trametinib and Dabrafenib have been mentioned in the context of this disorder. Affiliated tissues include brain, t cells and eye, and related phenotypes are glioblastoma multiforme and abnormal cell morphology

10) Urea Cycle Disorder
Urea Cycle Disorder, also known as urea cycle disorders, inborn, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and n-acetylglutamate synthase deficiency. An important gene associated with Urea Cycle Disorder is SLC25A13 (Solute Carrier Family 25 Member 13), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs 4-phenylbutyric acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and prefrontal cortex, and related phenotypes are no effect and no effect

11) Batten Disease
Ceroid Lipofuscinosis, Neuronal, 3, also known as batten disease, is related to ceroid lipofuscinosis, neuronal, 1 and neuronal ceroid-lipofuscinoses, and has symptoms including myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin). The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and bone marrow, and related phenotypes are developmental regression and motor deterioration

12) Parkinson's Disease
Parkinson Disease, Late-Onset, also known as parkinson disease, is related to hereditary late-onset parkinson disease and parkinson disease 3, autosomal dominant, and has symptoms including angina pectoris, back pain and headache. An important gene associated with Parkinson Disease, Late-Onset is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways is Parkinson's disease pathway. The drugs Idebenone and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include Brain, and related phenotypes are hallucinations and abnormal autonomic nervous system physiology

13) Pompe Disease
Glycogen Storage Disease Ii, also known as pompe disease, is related to danon disease and atrial standstill 1, and has symptoms including dyspnea and weakness. An important gene associated with Glycogen Storage Disease Ii is GAA (Alpha Glucosidase), and among its related pathways/superpathways are Glycogen metabolism and mTOR Pathway. The drugs Bortezomib and Salbutamol have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are oligosacchariduria and progressive proximal muscle weakness

14) Toxoplasmosis
Toxoplasmosis, also known as multisystemic disseminated toxoplasmosis, is related to congenital toxoplasmosis and meningoencephalitis, and has symptoms including fever and pruritus. An important gene associated with Toxoplasmosis is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Valproic acid and Sulfadiazine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone marrow, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

15) Acute Myeloid Leukemia
Acute Myeloblastic Leukemia with Maturation, also known as acute myeloblastic leukemia type 2, is related to myeloid leukemia and myeloid sarcoma. An important gene associated with Acute Myeloblastic Leukemia with Maturation is MIR181A1HG (MIR181A1 Host Gene), and among its related pathways/superpathways are Ras signaling and Hematopoietic Stem Cells and Lineage-specific Markers. The drugs Nicotine and Amsacrine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and t cells, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

16) Bronchitis, Chronic
Bronchitis, also known as chronic bronchitis, is related to allergic asthma and haemophilus influenzae, and has symptoms including cough, shortness of breath and low fever. An important gene associated with Bronchitis is ELANE (Elastase, Neutrophil Expressed), and among its related pathways/superpathways are Signal Transduction and Innate Immune System. The drugs Cefdinir and Streptokinase have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and t cells, and related phenotypes are no effect and no effect

17) Chronic Lymphocytic Leukemia
Leukemia, Chronic Lymphocytic 2, also known as leukemia, chronic lymphocytic, susceptibility to, 2, is related to chronic lymphocytic leukemia/small lymphocytic lymphoma and chromosomal triplication, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Leukemia, Chronic Lymphocytic 2 is CLLS2 (Disrupted In B-Cell Neoplasia), and among its related pathways/superpathways are Hematopoietic Stem Cells and Lineage-specific Markers and Interleukin-4 and Interleukin-13 signaling. The drugs Valganciclovir and Chlorambucil have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and b cells, and related phenotypes are chronic lymphatic leukemia and immune system

18) Gaucher Disease
Gaucher's Disease, also known as gaucher disease, is related to gaucher disease, type ii and gaucher disease, type iii, and has symptoms including apnea, muscle rigidity and muscle spasticity. An important gene associated with Gaucher's Disease is GBA1 (Glucosylceramidase Beta 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Sofosbuvir and Ledipasvir have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and bone marrow, and related phenotypes are splenomegaly and hepatomegaly

19) Bronchiectasis
Bronchiectasis, also known as polynesian bronchiectasis, is related to bronchiectasis with or without elevated sweat chloride 1 and idiopathic bronchiectasis, and has symptoms including headache An important gene associated with Bronchiectasis is STAT1 (Signal Transducer And Activator Of Transcription 1), and among its related pathways/superpathways are Innate Immune System and Bacterial infections in CF airways. The drugs Tobramycin and Dimercaprol have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and neutrophil, and related phenotypes are no effect and no effect

20) Maple Syrup Urine Disease
Maple Syrup Urine Disease, also known as bckd deficiency, is related to dihydrolipoamide dehydrogenase deficiency and intermediate maple syrup urine disease, and has symptoms including ataxia, lethargy and seizures. An important gene associated with Maple Syrup Urine Disease is BCKDHA (Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Dapagliflozin and Insulin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, and related phenotypes are intellectual disability and respiratory insufficiency

21) Sandhoff Disease
Sandhoff Disease, also known as total hexosaminidase deficiency, is related to gm1-gangliosidosis, type i and gm2-gangliosidosis, ab variant. An important gene associated with Sandhoff Disease is HEXB (Hexosaminidase Subunit Beta), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, eye and brain, and related phenotypes are macrocephaly and failure to thrive

22) Wolfram Syndrome
Wolfram Syndrome, also known as didmoad syndrome, is related to wolfram syndrome 1 and wolfram syndrome 2, and has symptoms including ataxia, seizures and tremor. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Glucose / Energy Metabolism and Neuroscience. The drugs Acetylcysteine and Iron have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and brain, and related phenotypes are diabetes mellitus and sensorineural hearing impairment

23) Fabry's Disease
Fabry Disease, also known as alpha-galactosidase a deficiency, is related to kanzaki disease and schindler disease, and has symptoms including abdominal pain, angina pectoris and muscular fasciculation. An important gene associated with Fabry Disease is GLA (Galactosidase Alpha), and among its related pathways/superpathways are Innate Immune System and Senescence and autophagy in cancer. The drugs Coal tar and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are corneal opacity and arthritis

24) Tay-Sachs Disease
Tay-Sachs Disease, also known as hexosaminidase a deficiency, is related to gm2-gangliosidosis, ab variant and gm1-gangliosidosis, type i, and has symptoms including back pain, headache and pain. An important gene associated with Tay-Sachs Disease is HEXA (Hexosaminidase Subunit Alpha), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Miglustat and Anti-HIV Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are progressive spasticity and abnormal enzyme/coenzyme activity

25) Lymphoma
Lymphosarcoma, also known as lymphoma, diffuse, is related to lymphoma, non-hodgkin, familial and lymphoma, hodgkin, classic. An important gene associated with Lymphosarcoma is BCL6 (BCL6 Transcription Repressor), and among its related pathways/superpathways are Direct p53 effectors and Interleukin-4 and Interleukin-13 signaling. The drugs Crofelemer and Aprepitant have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone marrow and myeloid.

26) Citrullinemia
Argininosuccinic Aciduria, also known as argininosuccinate lyase deficiency, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and carbonic anhydrase va deficiency, hyperammonemia due to, and has symptoms including ataxia, lethargy and seizures. An important gene associated with Argininosuccinic Aciduria is ASL (Argininosuccinate Lyase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone marrow, and related phenotypes are aminoaciduria and oroticaciduria

27) Malaria
Malaria, also known as malaria, susceptibility to, is related to plasmodium falciparum malaria and plasmodium vivax malaria, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Malaria is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Innate Immune System and Response to elevated platelet cytosolic Ca2+. The drugs Lumefantrine and Artemether have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and t cells, and related phenotypes are nausea and vomiting and fever

28) Cancer, Prostate
Prostate Cancer, also known as prostate carcinoma, is related to breast cancer and prostate disease, and has symptoms including angina pectoris, tremor and equilibration disorder. An important gene associated with Prostate Cancer is CHEK2 (Checkpoint Kinase 2), and among its related pathways/superpathways are Endometrial cancer and Breast cancer pathway. The drugs Sodium citrate and Sildenafil have been mentioned in the context of this disorder. Affiliated tissues include prostate, bone and lymph node, and related phenotypes are prostate cancer and neoplasm

29) Cancer, Brain
Brain Cancer, also known as malignant neoplasm of brain, is related to li-fraumeni syndrome and lung cancer, and has symptoms including back pain, headache and pain. An important gene associated with Brain Cancer is MIR142 (MicroRNA 142), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Fentanyl and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include brain, breast and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

30) Cataract
Cataract, also known as cataracts, is related to senile cataract and cataract 1, multiple types. An important gene associated with Cataract is CRYBB3 (Crystallin Beta B3), and among its related pathways/superpathways is 1q21.1 copy number variation syndrome. The drugs Cyclopentolate and Atropine have been mentioned in the context of this disorder. Affiliated tissues include Eye, endothelial and cortex, and related phenotype is vision/eye.

31) Oculopharyngeal Muscular Dystrophy
Oculopharyngeal Muscular Dystrophy, also known as muscular dystrophy, oculopharyngeal, is related to muscular dystrophy and myopathy, and has symptoms including facial paresis An important gene associated with Oculopharyngeal Muscular Dystrophy is PABPN1 (Poly(A) Binding Protein Nuclear 1), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and Translational Control. Affiliated tissues include eye, tongue and lung, and related phenotypes are ptosis and myopathy

32) Gangliosidosis, GM1
Gm1 Gangliosidosis, also known as beta-galactosidase deficiency, is related to gm1-gangliosidosis, type i and gm1-gangliosidosis, type iii. An important gene associated with Gm1 Gangliosidosis is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Innate Immune System and Metabolism. The drugs Miglustat and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related phenotypes are hyperreflexia and nystagmus

33) Diabetes
Diabetes Mellitus, also known as diabetes, is related to type 2 diabetes mellitus and gestational diabetes, and has symptoms including angina pectoris, tremor and equilibration disorder. An important gene associated with Diabetes Mellitus is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Regulation of beta-cell development and Cell differentiation - expanded index. The drugs Miconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone marrow and kidney.

34) Presbyopia
Presbyopia, also known as accommodation insufficiency of old age, is related to oculodentodigital dysplasia and retinal perforation, and has symptoms including aniseikonia An important gene associated with Presbyopia is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways is 1q21.1 copy number variation syndrome. The drugs Vitamins and Omega 3 Fatty Acid have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and thymus, and related phenotypes are no effect and no effect

35) Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1, also known as guam disease, is related to frontotemporal dementia and/or amyotrophic lateral sclerosis 3 and frontotemporal dementia and/or amyotrophic lateral sclerosis 2, and has symptoms including tremor, bradykinesia and abnormality of extrapyramidal motor function. An important gene associated with Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 is TRPM7 (Transient Receptor Potential Cation Channel Subfamily M Member 7), and among its related pathways/superpathways are Neuroscience and Copper homeostasis. The drugs Varenicline and Riluzole have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spinal cord and brain, and related phenotypes are muscle weakness and dementia

36) Spinocerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia, autosomal recessive 4, and has symptoms including ataxia and cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Akt Signaling and MAPK signaling pathway. The drugs Nootropic Agents and TA 0910 have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, cortex and brain, and related phenotypes are progressive cerebellar ataxia and abnormal pyramidal sign

37) Spinocerebellar Ataxia Type 3
Machado-Joseph Disease, also known as sca3, is related to olivopontocerebellar atrophy and spinocerebellar ataxia 2, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Machado-Joseph Disease is ATXN3 (Ataxin 3), and among its related pathways/superpathways are Deubiquitination and Neuroscience. The drugs Lithium carbonate and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, cerebellum and tongue, and related phenotypes are hyperreflexia and abnormal pyramidal sign

38) Spinal Muscular Atrophy
Spinal Muscular Atrophy, also known as sma, is related to spinal muscular atrophy, distal, autosomal recessive, 1 and spinal muscular atrophy, x-linked 2, and has symptoms including back pain, headache and pain. An important gene associated with Spinal Muscular Atrophy is SMN1 (Survival Of Motor Neuron 1, Telomeric), and among its related pathways/superpathways is SARS-CoV-2 modulates host translation machinery. The drugs Acetaminophen and Risdiplam have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and tongue, and related phenotypes are no effect and no effect

39) Intracerebral Hemorrhage
Hemorrhage, Intracerebral, also known as intracerebral hemorrhage, is related to cerebral amyloid angiopathy, app-related and porencephaly, and has symptoms including angina pectoris, back pain and chest pain. An important gene associated with Hemorrhage, Intracerebral is ACE (Angiotensin I Converting Enzyme), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs Progesterone and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and heart, and related phenotypes are growth/size/body region and nervous system

40) Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy, Cst3-Related, also known as cerebral amyloid angiopathy, is related to cerebral amyloid angiopathy, app-related and gerstmann-straussler disease. An important gene associated with Cerebral Amyloid Angiopathy, Cst3-Related is CST3 (Cystatin C), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Presenilin-Mediated Signaling. The drugs Phenol and Acetylsalicylic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spleen, and related phenotypes are stroke and cerebral hemorrhage

41) Retinitis Pigmentosa
Cone-Rod Dystrophy 2, also known as cone-rod dystrophy, is related to cone-rod dystrophy 3 and cone-rod dystrophy 16. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Bardet-Biedl syndrome and Ciliopathies. The drugs Tocopherol and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are abnormality of retinal pigmentation and photophobia

42) Phenylketonuria
Phenylketonuria, also known as phenylalanine hydroxylase deficiency, is related to classic phenylketonuria and hyperphenylalaninemia, and has symptoms including back pain, headache and pain. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Dopamine and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include Liver, heart and brain, and related phenotypes are aminoaciduria and intellectual disability

43) Krabbe Disease
Krabbe Disease, also known as galactosylceramide beta-galactosidase deficiency, is related to infantile krabbe disease and leukodystrophy, and has symptoms including seizures, vomiting and hyperirritability. An important gene associated with Krabbe Disease is GALC (Galactosylceramidase), and among its related pathways/superpathways are Metabolism and IL-1 Family Signaling Pathways. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone marrow, and related phenotypes are developmental regression and progressive spasticity

44) Schistosomiasis
Intestinal Schistosomiasis, also known as schistosomiasis japonica, is related to schistosomiasis and neuroschistosomiasis. An important gene associated with Intestinal Schistosomiasis is IL13 (Interleukin 13), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drugs Lumefantrine and Artemether have been mentioned in the context of this disorder. Affiliated tissues include liver, t cells and spleen, and related phenotypes are immune system and no phenotypic analysis

45) Myelodysplasia
Myelodysplastic Syndrome, also known as myelodysplastic syndromes, is related to leukemia, acute myeloid and juvenile myelomonocytic leukemia. An important gene associated with Myelodysplastic Syndrome is TET2 (Tet Methylcytosine Dioxygenase 2), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Posaconazole and Micafungin have been mentioned in the context of this disorder. Affiliated tissues include Placenta and Umbilical Cord, and related phenotypes are myelodysplasia and neoplasm

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