TaoMedAI/RareMedData huggingface dataset:
Gene: NOVA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: NOVA2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES (OMIM:618859)
Gene: PNP
Phenotype: Stroke (HP:0001297)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Hypertonia (HP:0001276)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Motor delay (HP:0001270)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Hypotonia (HP:0001252)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Ataxia (HP:0001251)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Ataxia (HP:0001251)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Spasticity (HP:0001257)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Neoplasm (HP:0002664)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Lymphoma (HP:0002665)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Tremor (HP:0001337)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Lymph node hypoplasia (HP:0002732)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Pneumonia (HP:0002090)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Elevated urinary inosine level (HP:0040422)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Elevated urinary guanosine level (HP:0040424)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Decreased urinary urate (HP:0011935)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Decreased urinary urate (HP:0011935)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Infantile onset (HP:0003593)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Tetraparesis (HP:0002273)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Hypouricemia (HP:0003537)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Increased circulating inosine concentration (HP:0033339)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Increased circulating guanosine concentration (HP:0033340)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Unusual gastrointestinal infection (HP:0032166)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Sinusitis (HP:0000246)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Abnormal T cell morphology (HP:0002843)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Otitis media (HP:0000388)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Abnormality of B cell physiology (HP:0005372)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Humoral immunodeficiency (HP:0005363)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Cerebral vasculitis (HP:0005318)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Recurrent opportunistic infections (HP:0005390)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: PNP
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Gene: PNP
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Gene: NPAT
Phenotype: Visual field defect (HP:0001123)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Hypertonia (HP:0001276)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Seizure (HP:0001250)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Dysarthria (HP:0001260)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Stomach cancer (HP:0012126)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Malabsorption (HP:0002024)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Constipation (HP:0002019)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Migraine (HP:0002076)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Dysgraphia (HP:0010526)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Paresthesia (HP:0003401)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Developmental regression (HP:0002376)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Memory impairment (HP:0002354)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Hallucinations (HP:0000738)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Irritability (HP:0000737)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Anxiety (HP:0000739)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Depression (HP:0000716)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Fatigue (HP:0012378)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPAT
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: NPC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Seizure (HP:0001250)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Ataxia (HP:0001251)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Spasticity (HP:0001257)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Cataplexy (HP:0002524)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Dystonia (HP:0001332)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Low cholesterol esterification rate (HP:0003349)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Unesterified cholesterol accumulation in cultured fibroblasts (HP:6000158)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Loss of speech (HP:0002371)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Foam cells (HP:0003651)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: CNS foam cells (HP:0003640)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Sea-blue histiocytosis (HP:0001982)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Dementia (HP:0000726)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Psychosis (HP:0000709)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Fatal liver failure in infancy (HP:0006583)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Fetal ascites (HP:0001791)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
Gene: NPC1
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)