TaoMedAI/RareMedData huggingface dataset:
Gene: BEST1
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: BEST1
Phenotype: Strabismus (HP:0000486)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Microcornea (HP:0000482)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Abnormality of the eye (HP:0000478)
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: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Metamorphopsia (HP:0012508)
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: Developmental cataract (HP:0000519)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Gene: BEST1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Visual impairment (HP:0000505)
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: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Visual impairment (HP:0000505)
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 impairment (HP:0000505)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 2 (OMIM:153700)
Gene: BEST1
Phenotype: Abnormality of vision (HP:0000504)
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: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: BEST1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Glaucoma (HP:0000501)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: BEST1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
Gene: BEST1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Color vision defect (HP:0000551)
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: Color vision defect (HP:0000551)
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: Color vision defect (HP:0000551)
Associated disease: VITREORETINOCHOROIDOPATHY (OMIM:193220)
Gene: BEST1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: BEST1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 50 (OMIM:613194)
Gene: BEST1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BEST1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: VRK1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Motor delay (HP:0001270)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Motor delay (HP:0001270)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Seizure (HP:0001250)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Ataxia (HP:0001251)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Ataxia (HP:0001251)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Poor suck (HP:0002033)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Congenital onset (HP:0003577)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Neuronal loss in basal ganglia (HP:0200147)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Fasciculations (HP:0002380)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Hand tremor (HP:0002378)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Progressive (HP:0003676)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Hypoplasia of the ventral pons (HP:0006850)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Fetal onset (HP:0011461)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Congenital contracture (HP:0002803)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Strabismus (HP:0000486)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Hammertoe (HP:0001765)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A (OMIM:607596)
Gene: VRK1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 (OMIM:620542)
Gene: VRK1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VRK1
Phenotype: Esotropia (HP:0000565)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: VWF
Phenotype: Variable expressivity (HP:0003828)
Associated disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Gene: VWF
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Gene: VWF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Gene: VWF
Phenotype: Reduced quantity of Von Willebrand factor (HP:0012147)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Menorrhagia (HP:0000132)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Menorrhagia (HP:0000132)
Associated disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Gene: VWF
Phenotype: Menorrhagia (HP:0000132)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Prolonged whole-blood clotting time (HP:0005542)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Reduced factor VIII activity (HP:0003125)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Reduced factor VIII activity (HP:0003125)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Gene: VWF
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Joint hemorrhage (HP:0005261)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Gastrointestinal angiodysplasia (HP:0000471)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Epistaxis (HP:0000421)
Associated disease: VON WILLEBRAND DISEASE, TYPE 1 (OMIM:193400)
Gene: VWF
Phenotype: Epistaxis (HP:0000421)
Associated disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Gene: VWF
Phenotype: Epistaxis (HP:0000421)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)
Gene: VWF
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: VON WILLEBRAND DISEASE, TYPE 2 (OMIM:613554)
Gene: VWF
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: VON WILLEBRAND DISEASE, TYPE 3 (OMIM:277480)