TaoMedAI/RareMedData huggingface dataset:
Gene: GSN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Renal glomerular amyloid deposition (HP:0032614)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Abnormal spleen morphology (HP:0025408)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Facial palsy (HP:0010628)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Dermatological manifestations of systemic disorders (HP:0001005)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Decreased heart rate variability (HP:0031861)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Regional abnormality of skin (HP:0011356)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Depression (HP:0000716)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Generalized amyloid deposition (HP:0003216)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Cardiac amyloidosis (HP:0030843)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Cutis laxa (HP:0000973)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Pruritus (HP:0000989)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Dry skin (HP:0000958)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Edema (HP:0000969)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Urolithiasis (HP:0034368)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Xerostomia (HP:0000217)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Cataract (HP:0000518)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Cataract (HP:0000518)
Associated disease: AMYLOIDOSIS, FINNISH TYPE (OMIM:105120)
Gene: GSN
Phenotype: Visual impairment (HP:0000505)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Glaucoma (HP:0000501)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSN
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Hereditary amyloidosis, Finnish type; Gelsolin amyloidosis; Familial amyloidosis, Finnish type; Familial amyloid polyneuropathy type IV; AGel amyloidosis (ORPHA:85448)
Gene: GSR
Phenotype: Reduced erythrocyte glutathione reductase activity (HP:6000525)
Associated disease: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY (OMIM:618660)
Gene: GSR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY (OMIM:618660)
Gene: GSR
Phenotype: Fava bean-induced hemolytic anemia (HP:0004814)
Associated disease: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY (OMIM:618660)
Gene: GSR
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY (OMIM:618660)
Gene: GSR
Phenotype: Cataract (HP:0000518)
Associated disease: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY (OMIM:618660)
Gene: GSS
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Seizure (HP:0001250)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Ataxia (HP:0001251)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Gene: GSS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Dysarthria (HP:0001260)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Gene: GSS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Increased level of L-pyroglutamic acid in urine (HP:0410132)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Increased level of L-pyroglutamic acid in urine (HP:0410132)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Gene: GSS
Phenotype: Reduced glutathione synthetase level (HP:0003343)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Reduced glutathione synthetase level (HP:0003343)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Gene: GSS
Phenotype: Intention tremor (HP:0002080)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Gene: GSS
Phenotype: Chronic metabolic acidosis (HP:0001996)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Glyoxalase deficiency (HP:0003258)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Gene: GSS
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO (OMIM:231900)
Gene: GSS
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSS
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: GLUTATHIONE SYNTHETASE DEFICIENCY (OMIM:266130)
Gene: GSTM3
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTM3
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: GSTZ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MALEYLACETOACETATE ISOMERASE DEFICIENCY (OMIM:617596)
Gene: GSTZ1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MALEYLACETOACETATE ISOMERASE DEFICIENCY (OMIM:617596)
Gene: MSH6
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Gene: MSH6
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Lymphoma (HP:0002665)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MSH6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Gene: MSH6
Phenotype: T-cell lymphoma (HP:0012190)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Gene: MSH6
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MSH6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MSH6
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Malabsorption (HP:0002024)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Constipation (HP:0002019)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH6
Phenotype: Migraine (HP:0002076)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Paresthesia (HP:0003401)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Astrocytoma (HP:0009592)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Adult onset (HP:0003581)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Gene: MSH6
Phenotype: Lisch nodules (HP:0009737)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Gene: MSH6
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH6
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lynch syndrome (ORPHA:144)