TaoMedAI/RareMedData huggingface dataset:
Gene: ATP8B1
Phenotype: Increased serum bile acid concentration during pregnancy (HP:0200150)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 (OMIM:147480)
Gene: ATP8B1
Phenotype: Insomnia (HP:0100785)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Gene: ATP8B1
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Abnormality of the digestive system (HP:0025031)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Abnormal pineal melatonin secretion (HP:0012689)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Short stature (HP:0004322)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Depression (HP:0000716)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Wheezing (HP:0030828)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ATP8B1
Phenotype: Pruritus (HP:0000989)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Gene: ATP8B1
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 (OMIM:147480)
Gene: ATP8B1
Phenotype: Skin rash (HP:0000988)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ATP8B1
Phenotype: Jaundice (HP:0000952)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 (OMIM:147480)
Gene: ATP8B1
Phenotype: Osteopenia (HP:0000938)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Gene: ATP8B1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ATP8B1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Ascites (HP:0001541)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ATP8B1
Phenotype: Ascites (HP:0001541)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ATP8B1
Phenotype: Intrahepatic cholestasis with episodic jaundice (HP:0006575)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Gene: ATP8B1
Phenotype: Intrahepatic cholestasis with episodic jaundice (HP:0006575)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ATP8B1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 (OMIM:147480)
Gene: ATP8B1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Gene: ATP8B1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Gene: ATP8B1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Premature birth (HP:0001622)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Premature birth (HP:0001622)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 (OMIM:147480)
Gene: ATP8B1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (OMIM:243300)
Gene: ATP8B1
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ATP8B1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ATP8B1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: ATP8B1
Phenotype: Epistaxis (HP:0000421)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (OMIM:211600)
Gene: PFKM
Phenotype: Myotonia (HP:0002486)
Associated disease: Glycogenosis due to muscle phosphofructokinase deficiency; GSD type 7; Glycogen storage disease type 7; GSD type VII; Glycogen storage disease type VII; GSD due to muscle phosphofructokinase deficiency; Glycogenosis type 7; Glycogen storage disease due to muscle phosphofructokinase deficiency; Tarui disease; Glycogenosis type VII (ORPHA:371)
Gene: PFKM
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Glycogenosis due to muscle phosphofructokinase deficiency; GSD type 7; Glycogen storage disease type 7; GSD type VII; Glycogen storage disease type VII; GSD due to muscle phosphofructokinase deficiency; Glycogenosis type 7; Glycogen storage disease due to muscle phosphofructokinase deficiency; Tarui disease; Glycogenosis type VII (ORPHA:371)
Gene: PFKM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Myalgia (HP:0003326)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Easy fatigability (HP:0003388)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Glycogenosis due to muscle phosphofructokinase deficiency; GSD type 7; Glycogen storage disease type 7; GSD type VII; Glycogen storage disease type VII; GSD due to muscle phosphofructokinase deficiency; Glycogenosis type 7; Glycogen storage disease due to muscle phosphofructokinase deficiency; Tarui disease; Glycogenosis type VII (ORPHA:371)
Gene: PFKM
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Reduced muscle 6-phosphofructokinase activity (HP:6000359)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Anemia (HP:0001903)
Associated disease: Glycogenosis due to muscle phosphofructokinase deficiency; GSD type 7; Glycogen storage disease type 7; GSD type VII; Glycogen storage disease type VII; GSD due to muscle phosphofructokinase deficiency; Glycogenosis type 7; Glycogen storage disease due to muscle phosphofructokinase deficiency; Tarui disease; Glycogenosis type VII (ORPHA:371)
Gene: PFKM
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: Glycogenosis due to muscle phosphofructokinase deficiency; GSD type 7; Glycogen storage disease type 7; GSD type VII; Glycogen storage disease type VII; GSD due to muscle phosphofructokinase deficiency; Glycogenosis type 7; Glycogen storage disease due to muscle phosphofructokinase deficiency; Tarui disease; Glycogenosis type VII (ORPHA:371)
Gene: PFKM
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Gout (HP:0001997)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Hematuria (HP:0000790)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Glycogenosis due to muscle phosphofructokinase deficiency; GSD type 7; Glycogen storage disease type 7; GSD type VII; Glycogen storage disease type VII; GSD due to muscle phosphofructokinase deficiency; Glycogenosis type 7; Glycogen storage disease due to muscle phosphofructokinase deficiency; Tarui disease; Glycogenosis type VII (ORPHA:371)
Gene: PFKM
Phenotype: Jaundice (HP:0000952)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Reduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFKM
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Gene: PFN1
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 18 (OMIM:614808)
Gene: PFN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PFN1
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: PGAM2
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGAM2
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGAM2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGAM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)
Gene: PGAM2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE X (OMIM:261670)