TaoMedAI/RareMedData huggingface dataset:
Gene: TTPA
Phenotype: Delayed somatosensory central conduction time (HP:0100291)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Perseverative thought (HP:0030223)
Associated disease: ATAXIA WITH VITAMIN 3 DEFICIENCY (OMIM:277460)
Gene: TTPA
Phenotype: Pes cavus (HP:0001761)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Visual impairment (HP:0000505)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Familial isolated vitamin E deficiency; Ataxia with vitamin E deficiency; Ataxia with isolated vitamin E deficiency; AVED; Friedreich-like ataxia; Isolated vitamin E deficiency (ORPHA:96)
Gene: TTPA
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TTPA
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Retinal dots (HP:0032027)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Obesity (HP:0001513)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Astigmatism (HP:0000483)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Retinal detachment (HP:0000541)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TUB
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: TUB
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUB
Phenotype: Myopia (HP:0000545)
Associated disease: RETINAL DYSTROPHY AND OBESITY (OMIM:616188)
Gene: TTR
Phenotype: Increased circulating troponin T concentration (HP:0410174)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Stroke (HP:0001297)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Hemiparesis (HP:0001269)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Confusion (HP:0001289)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Seizure (HP:0001250)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Ataxia (HP:0001251)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Auditory hallucination (HP:0008765)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Tremor (HP:0001337)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC (OMIM:145680)
Gene: TTR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARPAL TUNNEL SYNDROME (OMIM:115430)
Gene: TTR
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: CARPAL TUNNEL SYNDROME (OMIM:115430)
Gene: TTR
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Nephropathy (HP:0000112)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Constipation (HP:0002019)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Constipation (HP:0002019)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Diarrhea (HP:0002014)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Diarrhea (HP:0002014)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Intention tremor (HP:0002080)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Tendon rupture (HP:0100550)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Limb ataxia (HP:0002070)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Euthyroid hyperthyroxinemia (HP:0008247)
Associated disease: HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC (OMIM:145680)
Gene: TTR
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Paraplegia (HP:0010550)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Reduced circulating vitamin B6 circulating (HP:0008326)
Associated disease: CARPAL TUNNEL SYNDROME (OMIM:115430)
Gene: TTR
Phenotype: Leptomeningeal enhancement (HP:0032070)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Progressive (HP:0003676)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Headache (HP:0002315)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CARPAL TUNNEL SYNDROME (OMIM:115430)
Gene: TTR
Phenotype: Abnormal enteric nervous system morphology (HP:0025028)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Nystagmus (HP:0000639)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Diplopia (HP:0000651)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Thromboembolism (HP:0001907)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Anemia (HP:0001903)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Impotence (HP:0000802)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Impotence (HP:0000802)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Hallucinations (HP:0000738)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Anxiety (HP:0000739)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Dementia (HP:0000726)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Facial tics (HP:0011468)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Cardiac amyloidosis (HP:0030843)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Arrhythmia (HP:0011675)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Arrhythmia (HP:0011675)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Digital flexor tenosynovitis (HP:0012276)
Associated disease: CARPAL TUNNEL SYNDROME (OMIM:115430)
Gene: TTR
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Amyloid deposition in the vitreous humor (HP:0007841)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Amyloidosis (HP:0011034)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Atrial arrhythmia (HP:0001692)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: High myopia (HP:0011003)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Angina pectoris (HP:0001681)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: ATTRV122I-related amyloidosis; ATTRV122I amyloidosis (ORPHA:85451)
Gene: TTR
Phenotype: Weight loss (HP:0001824)
Associated disease: ATTRV30M-related amyloidosis; ATTRV30M amyloidosis; Hereditary ATTRV30M-related amyloidosis (ORPHA:85447)
Gene: TTR
Phenotype: Ptosis (HP:0000508)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TTR
Phenotype: Visual impairment (HP:0000505)
Associated disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (OMIM:105210)
Gene: TUBA4A
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
Gene: TUBA4A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
Gene: TUBA4A
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
Gene: TUBA4A
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
Gene: TUBA4A
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:616208)
Gene: TUBB2A
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)