protein

Showing entry for Fumarate hydratase, mitochondrial

General Target Information
BXGT Id	BXGT023939
Protein Name	Fumarate hydratase, mitochondrial
Uniport Id	P07954
Gene	FH
Gene Id	2271
Domain	FumaraseC_C; Lyase_1
Pfam	PF10415 PF00206
Organism	Homo sapiens (Human)

Target protein affiliated biological pathways

KEGG

Class	Subclass	KEGG Id	Pathway Name
1. Metabolism	1.1 Carbohydrate metabolism	hsa00020	Citrate cycle (TCA cycle)
1. Metabolism	1.1 Carbohydrate metabolism	hsa00620	Pyruvate metabolism
1. Metabolism	1.0 Global and overview maps	hsa01100	Metabolic pathways
1. Metabolism	1.0 Global and overview maps	hsa01200	Carbon metabolism
6. Human Diseases	6.7 Endocrine and metabolic diseases	hsa04934	Cushing syndrome
6. Human Diseases	6.1 Cancers: Overview	hsa05200	Pathways in cancer
6. Human Diseases	6.2 Cancers: Specific types	hsa05211	Renal cell carcinoma

Gene Ontology

GO Type	GO Id	Gene Ontology
Biological Process	GO:0006974	cellular response to DNA damage stimulus
Biological Process	GO:0006281	DNA repair
Biological Process	GO:0006106	fumarate metabolic process
Biological Process	GO:0048873	homeostasis of number of cells within a tissue
Biological Process	GO:0006108	malate metabolic process
Biological Process	GO:0000415	negative regulation of histone H3-K36 methylation
Biological Process	GO:0120162	positive regulation of cold-induced thermogenesis
Biological Process	GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining
Biological Process	GO:0000821	regulation of arginine metabolic process
Biological Process	GO:0006099	tricarboxylic acid cycle
Biological Process	GO:0000050	urea cycle
molecular function	GO:0004333	fumarate hydratase activity
molecular function	GO:0042393	histone binding
cellular component	GO:0005694	chromosome
cellular component	GO:0005737	cytoplasm
cellular component	GO:0005829	cytosol
cellular component	GO:0070062	extracellular exosome
cellular component	GO:0005759	mitochondrial matrix
cellular component	GO:0005739	mitochondrion
cellular component	GO:0005634	nucleus
cellular component	GO:0035861	site of double-strand break
cellular component	GO:0045239	tricarboxylic acid cycle enzyme complex

Reactome

Pathway Id	Pathway Name
R-HSA-1428517	The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-71403	Citric acid cycle (TCA cycle)
R-HSA-71406	Pyruvate metabolism and Citric Acid (TCA) cycle

Target protein-related diseases

Disease

CUI Id	BXGD Id	Disease Name	Disease Class
C0001125	BXGD000024	Acidosis, Lactic	Nutritional and Metabolic Diseases
C0001627	BXGD000068	Congenital adrenal hyperplasia	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0002895	BXGD000152	Anemia, Sickle Cell	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0003076	BXGD000171	Aniridia	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0003507	BXGD000203	Aortic Valve Stenosis	Cardiovascular Diseases
C0004364	BXGD000270	Autoimmune Diseases	Immune System Diseases
C0004763	BXGD000289	Barrett Esophagus	Digestive System Diseases; Neoplasms
C0005684	BXGD000319	Malignant neoplasm of urinary bladder	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0006142	BXGD000374	Malignant neoplasm of breast	Neoplasms; Skin and Connective Tissue Diseases
C0006413	BXGD000397	Burkitt Lymphoma	Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
C0006826	BXGD000408	Malignant Neoplasms	Neoplasms
C0007097	BXGD000424	Carcinoma	Neoplasms
C0007102	BXGD000425	Malignant tumor of colon	Digestive System Diseases; Neoplasms
C0007113	BXGD000430	Rectal Carcinoma	Digestive System Diseases; Neoplasms
C0007115	BXGD000432	Malignant neoplasm of thyroid	Neoplasms; Endocrine System Diseases
C0007134	BXGD000443	Renal Cell Carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0008031	BXGD000511	Chest Pain	Pathological Conditions, Signs and Symptoms
C0008312	BXGD000527	Primary biliary cirrhosis	Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0008370	BXGD000534	Cholestasis	Digestive System Diseases
C0008626	BXGD000559	Congenital chromosomal disease	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0009777	BXGD000630	Conn Adenoma	Neoplasms; Endocrine System Diseases
C0010346	BXGD000664	Crohn Disease	Digestive System Diseases
C0010481	BXGD000673	Cushing Syndrome	Endocrine System Diseases
C0010635	BXGD000680	Cystadenoma, Mucinous	Neoplasms
C0015544	BXGD001003	Failure to Thrive	Pathological Conditions, Signs and Symptoms
C0015672	BXGD001011	Fatigue	Pathological Conditions, Signs and Symptoms
C0016382	BXGD001054	Flushing	Pathological Conditions, Signs and Symptoms
C0017658	BXGD001138	Glomerulonephritis	Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0018777	BXGD001217	Conductive hearing loss	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018802	BXGD001227	Congestive heart failure	Cardiovascular Diseases
C0018965	BXGD001258	Hematuria	Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0020433	BXGD001379	Hyperbilirubinemia	Pathological Conditions, Signs and Symptoms
C0020437	BXGD001381	Hypercalcemia	Nutritional and Metabolic Diseases
C0020443	BXGD001385	Hypercholesterolemia	Nutritional and Metabolic Diseases
C0020534	BXGD001421	Orbital separation excessive	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0022665	BXGD001573	Kidney Neoplasm	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023267	BXGD001626	Fibroid Tumor	Neoplasms
C0023269	BXGD001627	leiomyosarcoma	Neoplasms
C0023283	BXGD001629	Leishmaniasis, Cutaneous	Infections; Skin and Connective Tissue Diseases
C0023290	BXGD001631	Leishmaniasis, Visceral	Infections
C0023418	BXGD001642	leukemia	Neoplasms
C0023434	BXGD001643	Chronic Lymphocytic Leukemia	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023449	BXGD001650	Acute lymphocytic leukemia	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023452	BXGD001651	Childhood Acute Lymphoblastic Leukemia	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0023467	BXGD001658	Leukemia, Myelocytic, Acute	Neoplasms
C0023487	BXGD001669	Acute Promyelocytic Leukemia	Neoplasms
C0023530	BXGD001683	Leukopenia	Hemic and Lymphatic Diseases
C0023601	BXGD001687	Leydig Cell Tumor	Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0024141	BXGD001740	Lupus Erythematosus, Systemic	Skin and Connective Tissue Diseases; Immune System Diseases
C0024299	BXGD001758	Lymphoma	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024301	BXGD001759	Lymphoma, Follicular	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024305	BXGD001763	Lymphoma, Non-Hodgkin	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024314	BXGD001767	Lymphoproliferative Disorders	Immune System Diseases; Hemic and Lymphatic Diseases
C0024534	BXGD001784	Malaria, Cerebral	Infections; Nervous System Diseases
C0024623	BXGD001791	Malignant neoplasm of stomach	Digestive System Diseases; Neoplasms
C0025268	BXGD001846	Multiple Endocrine Neoplasia Type 2a	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C0025958	BXGD001882	Microcephaly	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026010	BXGD001886	Microphthalmos	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026764	BXGD001928	Multiple Myeloma	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026769	BXGD001930	Multiple Sclerosis	Immune System Diseases; Nervous System Diseases
C0026827	BXGD001936	Muscle hypotonia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027497	BXGD001993	Nausea	Pathological Conditions, Signs and Symptoms
C0027627	BXGD002006	Neoplasm Metastasis	Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651	BXGD002009	Neoplasms	Neoplasms
C0027672	BXGD002020	Neoplastic Syndromes, Hereditary	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C0027708	BXGD002025	Nephroblastoma	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027819	BXGD002043	Neuroblastoma	Neoplasms
C0027831	BXGD002047	Neurofibromatosis 1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0027947	BXGD002061	Neutropenia	Hemic and Lymphatic Diseases
C0029124	BXGD002113	Optic Atrophy	Eye Diseases; Nervous System Diseases
C0029408	BXGD002137	Degenerative polyarthritis	Musculoskeletal Diseases
C0030232	BXGD002197	Pallor	Pathological Conditions, Signs and Symptoms
C0030252	BXGD002199	Palpitations	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0030421	BXGD002218	Paraganglioma	Neoplasms
C0031511	BXGD002304	Pheochromocytoma	Neoplasms
C0032461	BXGD002356	Polycythemia	Hemic and Lymphatic Diseases
C0033687	BXGD002415	Proteinuria	Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0033774	BXGD002419	Pruritus	Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
C0036341	BXGD002600	Schizophrenia	Mental Disorders
C0036572	BXGD002625	Seizures	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036690	BXGD002632	Septicemia	Pathological Conditions, Signs and Symptoms; Infections
C0037274	BXGD002676	Dermatologic disorders	Skin and Connective Tissue Diseases
C0037822	BXGD002706	Speech Disorders	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038220	BXGD002740	Status Epilepticus	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0039239	BXGD002803	Sinus Tachycardia	Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0039590	BXGD002822	Testicular Neoplasms	Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
C0040822	BXGD002885	Tremor	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0042133	BXGD002960	Uterine Fibroids	Neoplasms
C0042258	BXGD002973	Vaginal Neoplasms	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0042928	BXGD003014	Vocal Cord Paralysis	Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C0079731	BXGD003087	B-Cell Lymphomas	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0079740	BXGD003088	High Grade Lymphoma (neoplasm)	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0085584	BXGD003195	Encephalopathies	Nervous System Diseases
C0085605	BXGD003200	Liver Failure	Digestive System Diseases
C0085758	BXGD003250	Aganglionosis, Colonic	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0086543	BXGD003294	Cataract	Eye Diseases
C0086769	BXGD003310	Panic Attacks	Mental Disorders
C0152132	BXGD003547	Hypertensive Retinopathy	Eye Diseases; Cardiovascular Diseases
C0162429	BXGD003942	Malnutrition	Nutritional and Metabolic Diseases
C0162671	BXGD003971	MELAS Syndrome	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0175754	BXGD004015	Agenesis of corpus callosum	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0178664	BXGD004032	Glomerulosclerosis (disorder)	Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C0178874	BXGD004037	Tumor Progression	Pathological Conditions, Signs and Symptoms
C0206654	BXGD004217	Leiomyomatosis	Neoplasms
C0206658	BXGD004221	Smooth Muscle Tumor	Neoplasms
C0206686	BXGD004241	Adrenocortical carcinoma	Neoplasms; Endocrine System Diseases
C0206695	BXGD004246	Carcinoma, Neuroendocrine	Neoplasms
C0206734	BXGD004279	Hemangioblastoma	Neoplasms
C0220605	BXGD004294	Adult Non-Hodgkin Lymphoma	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0220612	BXGD004296	Childhood Non-Hodgkin Lymphoma	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0220981	BXGD004348	Metabolic acidosis	Nutritional and Metabolic Diseases
C0221013	BXGD004363	Mastocytosis, Systemic	Neoplasms; Immune System Diseases
C0221354	BXGD004446	Frontal bossing	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0235946	BXGD004789	Cerebral atrophy	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235974	BXGD004796	Pancreatic carcinoma	Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0238621	BXGD004947	Aminoaciduria	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0240635	BXGD005047	Byzanthine arch palate	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0241910	BXGD005123	Autoimmune Chronic Hepatitis	Digestive System Diseases; Immune System Diseases
C0243026	BXGD005210	Sepsis	Pathological Conditions, Signs and Symptoms; Infections
C0266464	BXGD005676	Polymicrogyria	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0278607	BXGD006548	Adult Leiomyosarcoma	Neoplasms
C0278764	BXGD006581	Adult Burkitt Lymphoma	Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
C0278879	BXGD006610	Childhood Burkitt Lymphoma	Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
C0279702	BXGD006685	Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0279986	BXGD006705	Childhood Leiomyosarcoma	Neoplasms
C0280631	BXGD006752	Leiomyosarcoma of uterus	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0282606	BXGD006817	Myomatous neoplasm	Neoplasms; Musculoskeletal Diseases
C0334294	BXGD007025	Multiple adenomatous polyps	Neoplasms
C0334478	BXGD007083	Bizarre leiomyoma	Neoplasms; Musculoskeletal Diseases
C0334634	BXGD007144	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0338597	BXGD007207	Choroid plexus cyst	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0342443	BXGD007481	Adrenal Cushing's syndrome	Endocrine System Diseases
C0342494	BXGD007489	Adrenocortical hyperplasia	Endocrine System Diseases
C0342770	BXGD007545	Fumarase deficiency	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
C0346064	BXGD007773	Cutaneous leiomyoma	Neoplasms; Skin and Connective Tissue Diseases
C0346067	BXGD007774	Cutaneous Leiomyosarcoma	Neoplasms; Skin and Connective Tissue Diseases
C0346172	BXGD007789	Mucinous cystadenoma of ovary	Neoplasms
C0346647	BXGD007832	Malignant neoplasm of pancreas	Digestive System Diseases; Neoplasms; Endocrine System Diseases
C0376358	BXGD007992	Malignant neoplasm of prostate	Neoplasms; Male Urogenital Diseases
C0476089	BXGD008977	Endometrial Carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C0476486	BXGD008996	Generalized enlarged lymph nodes	Hemic and Lymphatic Diseases
C0497156	BXGD009053	Lymphadenopathy	Hemic and Lymphatic Diseases
C0521670	BXGD009160	Cranial nerve compression	Nervous System Diseases; Wounds and Injuries
C0522357	BXGD009202	Vertigo, Paroxysmal	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0524528	BXGD009229	Pervasive Development Disorder	Mental Disorders
C0524909	BXGD009247	Hepatitis B, Chronic	Digestive System Diseases; Infections
C0524910	BXGD009248	Hepatitis C, Chronic	Digestive System Diseases; Infections
C0549473	BXGD009384	Thyroid carcinoma	Neoplasms; Endocrine System Diseases
C0557874	BXGD009444	Global developmental delay
C0596263	BXGD009639	Carcinogenesis	Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139	BXGD009695	Prostate carcinoma	Neoplasms; Male Urogenital Diseases
C0678222	BXGD009749	Breast Carcinoma	Neoplasms; Skin and Connective Tissue Diseases
C0699790	BXGD009866	Colon Carcinoma	Digestive System Diseases; Neoplasms
C0699791	BXGD009867	Stomach Carcinoma	Digestive System Diseases; Neoplasms
C0700095	BXGD009875	Central neuroblastoma	Neoplasms; Nervous System Diseases
C0730303	BXGD009950	Capillary hemangioma of retina	Neoplasms; Cardiovascular Diseases
C0740457	BXGD010000	Malignant neoplasm of kidney	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0751559	BXGD010500	Pulsatile Tinnitus	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0751606	BXGD010523	Adult Acute Lymphocytic Leukemia
C0854868	BXGD011043	Non-Hodgkin's lymphoma transformed recurrent
C0855138	BXGD011075	Mantle cell lymphoma refractory
C0879257	BXGD011393	Hereditary Papillary Renal Carcinoma	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0949541	BXGD011578	Hurthle Cell Tumor	Neoplasms
C1257877	BXGD011812	Pheochromocytoma, Extra-Adrenal	Neoplasms
C1262477	BXGD011882	Weight decreased	Pathological Conditions, Signs and Symptoms
C1266044	BXGD011940	Collecting Duct Carcinoma of the Kidney	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1269955	BXGD012005	Tumor Cell Invasion
C1306459	BXGD012361	Primary malignant neoplasm	Neoplasms
C1306837	BXGD012377	Papillary Renal Cell Carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1328252	BXGD012460	Mucocutaneous leishmaniasis	Infections; Skin and Connective Tissue Diseases
C1332206	BXGD012504	Adult Lymphoma	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1332225	BXGD012515	Aggressive Non-Hodgkin Lymphoma
C1332977	BXGD012569	Childhood Leukemia	Neoplasms
C1332979	BXGD012571	Childhood Lymphoma	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C1333001	BXGD012578	Childhood Renal Cell Carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1333944	BXGD012657	Paraganglioma of head and neck	Neoplasms
C1336840	BXGD012866	Papillary renal cell carcinoma type 2	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1378703	BXGD012933	Renal carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1387805	BXGD012958	Episodic paroxysmal anxiety	Behavior and Behavior Mechanisms
C1510586	BXGD013176	Autism Spectrum Disorders	Mental Disorders
C1527344	BXGD013275	Dysphonia	Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1611743	BXGD013456	Familial (FPAH)
C1658953	BXGD013486	tumor vasculature
C1708350	BXGD013598	Hereditary Leiomyomatosis and Renal Cell Cancer	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1708353	BXGD013599	Hereditary Paraganglioma-Pheochromocytoma Syndrome	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
C1836542	BXGD014129	Depressed nasal bridge
C1840077	BXGD014434	Anteverted nostril
C1842688	BXGD014532	Hypoplasia of the brainstem
C1849075	BXGD015002	Relative macrocephaly	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1853903	BXGD015364	Decreased fumarate hydratase activity
C1857171	BXGD015680	Episodic hyperhidrosis	Skin and Connective Tissue Diseases
C1857276	BXGD015688	Trichohepatoenteric Syndrome	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857657	BXGD015732	Reduced subcutaneous adipose tissue
C1858120	BXGD015774	Generalized hypotonia	Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1868393	BXGD016498	Elevated urinary epinephrine
C1868394	BXGD016499	Elevated calcitonin
C1868683	BXGD016526	B-CELL MALIGNANCY, LOW-GRADE
C2315100	BXGD017021	Pediatric failure to thrive	Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
C2675973	BXGD017318	Open operculum
C2826323	BXGD017790	Refractory Cytopenia of Childhood
C2931822	BXGD018068	Nasopharyngeal carcinoma	Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2931838	BXGD018074	Familial HDL deficiency	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C2931852	BXGD018079	Clear-cell metastatic renal cell carcinoma	Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2936826	BXGD018141	Fumaric aciduria	Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
C2937358	BXGD018159	Cerebral Hemorrhage	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C3160712	BXGD018467	Palpitations, CTCAE
C3160718	BXGD018468	PARKINSON DISEASE, LATE-ONSET
C3161330	BXGD018511	Profound intellectual disabilities	Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3280492	BXGD018831	TUMOR PREDISPOSITION SYNDROME
C3544347	BXGD019116	Intestinal fibrosis
C3549860	BXGD019128	Uterine leiomyosarcoma (less common)	Neoplasms
C3549861	BXGD019129	Cutaneous leiomyosarcoma (less common)	Neoplasms
C3549862	BXGD019130	Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)	Neoplasms
C3665347	BXGD019279	Visual Impairment	Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3808022	BXGD019536	Episodic abdominal pain	Pathological Conditions, Signs and Symptoms
C3887499	BXGD019884	Renal cyst	Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3887638	BXGD019906	Failure to thrive in infant	Pathological Conditions, Signs and Symptoms
C4020732	BXGD020474	Mitochondrial abnormalities
C4021745	BXGD020752	Abnormality of the musculature
C4022998	BXGD021058	Arachnoid hemangiomatosis	Neoplasms
C4023099	BXGD021105	Elevated urinary dopamine
C4025594	BXGD021683	Positive regitine blocking test
C4025626	BXGD021701	Elevated urinary norepinephrine
C4048306	BXGD021902	Multiple endocrine neoplasia Type 2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
C4086165	BXGD022126	Childhood Neuroblastoma	Neoplasms
C4087475	BXGD022150	Reed syndrome
C4293708	BXGD022515	Recurrent paroxysmal headache	Pathological Conditions, Signs and Symptoms
C4551683	BXGD023389	Adrenal Gland Pheochromocytoma	Neoplasms; Endocrine System Diseases
C4721414	BXGD023738	Mantle cell lymphoma	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C4721532	BXGD023752	Lymphoma, Non-Hodgkin, Familial	Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C4721555	BXGD023755	Autoimmune hepatitis	Digestive System Diseases

Target protein-related compounds

Compounds

BXGC Id	Compound Name	Strcuture	Molecular Weight
BXGC0000436	Glycerol		92.09

The target protein-related foods

Foods

BXGF Id	Food Name	Scientific Name	Food Group	Number of compound^{? Number of compound in food, higher numbers indicate the food are more associated with the protein}