TaoMedAI/RareMedData huggingface dataset:
Gene: BCS1L
Phenotype: Cholestasis (HP:0001396)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Cholestasis (HP:0001396)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes (HP:0003329)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Gliosis (HP:0002171)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Infantile onset (HP:0003593)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Fine hair (HP:0002213)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Coarse hair (HP:0002208)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Brittle hair (HP:0002299)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Brittle hair (HP:0002299)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Brittle hair (HP:0002299)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Chronic lactic acidosis (HP:0004925)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Dry hair (HP:0011359)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Recurrent hypoglycemia (HP:0001988)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hallucinations (HP:0000738)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Depression (HP:0000716)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Emotional lability (HP:0000712)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Anhidrosis (HP:0000970)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Alopecia (HP:0001596)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Alopecia (HP:0001596)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GRACILE SYNDROME (OMIM:603358)
Gene: BCS1L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Decreased mitochondrial complex III activity in liver tissue (HP:0006558)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Cholangitis (HP:0030151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Decreased transferrin saturation (HP:0012464)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Mitochondrial encephalopathy (HP:0006789)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Cataract (HP:0000518)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BDNF
Phenotype: Dysfunction of lateral corticospinal tracts (HP:0007299)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Nystagmus (HP:0000639)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Short stature (HP:0004322)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Microcephaly (HP:0000252)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Obesity (HP:0001513)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: BDNF
Phenotype: Cataract (HP:0000518)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Ptosis (HP:0000508)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Visual impairment (HP:0000505)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: BDNF
Phenotype: Glaucoma (HP:0000501)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: CFB
Phenotype: Meningitis (HP:0001287)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Peritonitis (HP:0002586)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Pneumonia (HP:0002090)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Hematuria (HP:0000790)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: CFB
Phenotype: Recurrent meningococcal disease (HP:0005381)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Decreased circulating complement factor B concentration (HP:0005416)
Associated disease: COMPLEMENT FACTOR B DEFICIENCY (OMIM:615561)
Gene: CFB
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 (OMIM:612924)
Gene: BFSP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Gene: BFSP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Gene: BFSP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Gene: BFSP1
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Gene: BFSP1
Phenotype: Cortical cataract (HP:0100019)
Associated disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Gene: BFSP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Gene: BFSP1
Phenotype: Lamellar cataract (HP:0007971)
Associated disease: CATARACT 33, MULTIPLE TYPES (OMIM:611391)
Gene: BGN
Phenotype: Crumpled ear (HP:0009901)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: BGN
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: BGN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MEESTER-LOEYS SYNDROME (OMIM:300989)
Gene: BGN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED (OMIM:300106)
Gene: BGN
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: BGN
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MEESTER-LOEYS SYNDROME (OMIM:300989)
Gene: BGN
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: BGN
Phenotype: Sporadic (HP:0003745)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BGN
Phenotype: Minimal subcutaneous fat (HP:0003717)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BGN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)