TaoMedAI/RareMedData huggingface dataset:
Gene: VHL
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: VHL
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: VHL
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: VHL
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: VHL
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: VHL
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: VHL
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: VHL
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: VHL
Phenotype: Pancreatic endocrine tumor (HP:0030405)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Epididymal cyst (HP:0030424)
Associated disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Gene: VHL
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: VHL
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: VHL
Phenotype: Weight loss (HP:0001824)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: VHL
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: VHL
Phenotype: Visual loss (HP:0000572)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 2 (OMIM:263400)
Gene: VHL
Phenotype: Endolymphatic sac tumor (HP:0030393)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VHL
Phenotype: Increased red blood cell mass (HP:0001898)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 2 (OMIM:263400)
Gene: VHL
Phenotype: Retinal detachment (HP:0000541)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: VIM
Phenotype: Posterior polar cataract (HP:0001115)
Associated disease: CATARACT 30, MULTIPLE TYPES (OMIM:116300)
Gene: VIM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 30, MULTIPLE TYPES (OMIM:116300)
Gene: VIM
Phenotype: Diffuse nuclear cataract (HP:0007657)
Associated disease: CATARACT 30, MULTIPLE TYPES (OMIM:116300)
Gene: VIM
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 30, MULTIPLE TYPES (OMIM:116300)
Gene: VIM
Phenotype: Pulverulent cataract (HP:0010693)
Associated disease: CATARACT 30, MULTIPLE TYPES (OMIM:116300)
Gene: VLDLR
Phenotype: Poor speech (HP:0002465)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Cerebellar ataxia associated with quadrupedal gait (HP:0009878)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Seizure (HP:0001250)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Ataxia (HP:0001251)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Pachygyria (HP:0001302)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Intention tremor (HP:0002080)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Nonprogressive (HP:0003680)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Short stature (HP:0004322)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Short stature (HP:0004322)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Strabismus (HP:0000486)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Pes planus (HP:0001763)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Cataract (HP:0000518)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: VLDLR
Phenotype: Cataract (HP:0000518)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1 (OMIM:224050)
Gene: VLDLR
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: BEST1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Choroideremia (HP:0001139)
Associated disease: Best vitelliform macular dystrophy; Vitelliform macular dystrophy type 2; Best disease; BVMD; Polymorphic vitelline macular degeneration; BMD; Juvenile-onset vitelliform macular dystrophy; Best macular dystrophy; Early-onset vitelliform macular dystrophy (ORPHA:1243)
Gene: BEST1
Phenotype: Choroideremia (HP:0001139)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: BEST1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Best vitelliform macular dystrophy; Vitelliform macular dystrophy type 2; Best disease; BVMD; Polymorphic vitelline macular degeneration; BMD; Juvenile-onset vitelliform macular dystrophy; Best macular dystrophy; Early-onset vitelliform macular dystrophy (ORPHA:1243)
Gene: BEST1
Phenotype: Visual field defect (HP:0001123)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: BEST1
Phenotype: Retinal flecks (HP:0012045)
Associated disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
Gene: BEST1
Phenotype: Retinal flecks (HP:0012045)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
Gene: BEST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Gene: BEST1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Vitelliform-like macular lesions (HP:0007677)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: BEST1
Phenotype: Abnormality of chorioretinal pigmentation (HP:0007661)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
Gene: BEST1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Gene: BEST1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Pulverulent cataract (HP:0010693)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: BEST1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Nystagmus (HP:0000639)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Blindness (HP:0000618)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: BEST1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
Gene: BEST1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Posterior staphyloma (HP:0030856)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Retinal arteriolar constriction (HP:0008043)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Cystoid macular degeneration (HP:0008028)
Associated disease: Best vitelliform macular dystrophy; Vitelliform macular dystrophy type 2; Best disease; BVMD; Polymorphic vitelline macular degeneration; BMD; Juvenile-onset vitelliform macular dystrophy; Best macular dystrophy; Early-onset vitelliform macular dystrophy (ORPHA:1243)
Gene: BEST1
Phenotype: Cystoid macular degeneration (HP:0008028)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Gene: BEST1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
Gene: BEST1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: BEST1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Gene: BEST1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: BEST1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Gene: BEST1
Phenotype: Retinal nonattachment (HP:0007899)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: BEST1
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Retinal arteriolar occlusion (HP:0007985)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)