TaoMedAI/RareMedData huggingface dataset:
Gene: UGT1A1
Phenotype: Tremor (HP:0001337)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Neonatal unconjugated hyperbilirubinemia (HP:0008176)
Associated disease: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL (OMIM:237900)
Gene: UGT1A1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Gene: UGT1A1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE II (OMIM:606785)
Gene: UGT1A1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Bilirubin-UGT deficiency type 2; Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; Crigler-Najjar syndrome type 2 (ORPHA:79235)
Gene: UGT1A1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: GILBERT SYNDROME (OMIM:143500)
Gene: UGT1A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Gene: UGT1A1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL (OMIM:237900)
Gene: UGT1A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Bilirubin-UGT deficiency type 2; Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; Crigler-Najjar syndrome type 2 (ORPHA:79235)
Gene: UGT1A1
Phenotype: Jaundice (HP:0000952)
Associated disease: GILBERT SYNDROME (OMIM:143500)
Gene: UGT1A1
Phenotype: Jaundice (HP:0000952)
Associated disease: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL (OMIM:237900)
Gene: UGT1A1
Phenotype: Jaundice (HP:0000952)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE II (OMIM:606785)
Gene: UGT1A1
Phenotype: Jaundice (HP:0000952)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Gene: UGT1A1
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: UGT1A1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Bilirubin-UGT deficiency type 2; Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; Crigler-Najjar syndrome type 2 (ORPHA:79235)
Gene: UGT1A1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: GILBERT SYNDROME (OMIM:143500)
Gene: UGT1A1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE II (OMIM:606785)
Gene: UGT1A1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Gene: UGT1A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Crigler-Najjar syndrome type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Gene: TMEM106B
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Expressive aphasia (HP:0002427)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Stroke (HP:0001297)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Hypertonia (HP:0001276)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Stooped posture (HP:0025403)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Intention tremor (HP:0002080)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Broad-based gait (HP:0002136)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Apraxia (HP:0002186)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Echolalia (HP:0010529)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Dyslexia (HP:0010522)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Dyslexia (HP:0010522)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Alexia (HP:0010523)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Alexia (HP:0010523)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Congenital onset (HP:0003577)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Fasciculations (HP:0002380)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Aphasia (HP:0002381)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Aphasia (HP:0002381)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Aphasia (HP:0002381)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Shuffling gait (HP:0002362)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Loss of speech (HP:0002371)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Memory impairment (HP:0002354)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Mutism (HP:0002300)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Mutism (HP:0002300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Abulia (HP:0012671)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Abulia (HP:0012671)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Lack of insight (HP:0000757)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Personality changes (HP:0000751)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Personality changes (HP:0000751)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Irritability (HP:0000737)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Anxiety (HP:0000739)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Disinhibition (HP:0000734)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Apathy (HP:0000741)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Depression (HP:0000716)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Restlessness (HP:0000711)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Restlessness (HP:0000711)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Hyperorality (HP:0000710)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Dementia (HP:0000726)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Restrictive behavior (HP:0000723)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Psychosis (HP:0000709)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Psychosis (HP:0000709)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Senile plaques (HP:0100256)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: TMEM106B
Phenotype: Emotional dearth (HP:0030213)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Collectionism (HP:0030212)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Visual agnosia (HP:0030222)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TMEM106B
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TMEM106B
Phenotype: EEG with continuous slow activity (HP:0011204)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: TMEM106B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 16 (OMIM:617964)
Gene: CRLS1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57 (OMIM:620167)