TaoMedAI/RareMedData huggingface dataset:
Gene: CRX
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CRX
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Cataract (HP:0000518)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CRX
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Keratoconus (HP:0000563)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: LEBER CONGENITAL AMAUROSIS 7 (OMIM:613829)
Gene: CRX
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 2 (OMIM:120970)
Gene: CRX
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CRX
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CRX
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: CRX
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRX
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CRY1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO (OMIM:614163)
Gene: CRY1
Phenotype: Sleep onset insomnia (HP:0031354)
Associated disease: DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO (OMIM:614163)
Gene: CRYAA
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYAA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Nystagmus (HP:0000639)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYAA
Phenotype: Amblyopia (HP:0000646)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYAA
Phenotype: Progressive cataract (HP:0007834)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYAA
Phenotype: Strabismus (HP:0000486)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Microcornea (HP:0000482)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYAA
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYAA
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Visual impairment (HP:0000505)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Glaucoma (HP:0000501)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CATARACT 9, MULTIPLE TYPES (OMIM:604219)
Gene: CRYAA
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYAB
Phenotype: Lenticonus (HP:0001142)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYAB
Phenotype: Posterior polar cataract (HP:0001115)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYAB
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Hypertonia (HP:0001276)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYAB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYAB
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Rigidity (HP:0002063)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Apnea (HP:0002104)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYAB
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Moderately reduced left ventricular ejection fraction (HP:0012665)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Posterior capsular cataract (HP:0100020)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Muscle fiber inclusion bodies (HP:0100299)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Death in infancy (HP:0001522)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Dysphonia (HP:0001618)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Weak cry (HP:0001612)
Associated disease: MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED (OMIM:613869)
Gene: CRYAB
Phenotype: High myopia (HP:0011003)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYAB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRYAB
Phenotype: Accumulation of muscle fiber desmin (HP:0030225)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Alpha-B crystallin-related late-onset distal myopathy; Late-onset distal crystallinopathy; Alpha-B crystallin-related late-onset myopathy (ORPHA:399058)
Gene: CRYAB
Phenotype: Cataract (HP:0000518)
Associated disease: CARDIOMYOPATHY, DILATED, 1II (OMIM:615184)
Gene: CRYAB
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYAB
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Gene: CRYBA1
Phenotype: Zonular cataract (HP:0010920)
Associated disease: CATARACT 10, MULTIPLE TYPES (OMIM:600881)
Gene: CRYBA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 10, MULTIPLE TYPES (OMIM:600881)
Gene: CRYBA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 10, MULTIPLE TYPES (OMIM:600881)
Gene: CRYBA1
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 10, MULTIPLE TYPES (OMIM:600881)
Gene: CRYBA1
Phenotype: Posterior Y-sutural cataract (HP:0008031)
Associated disease: CATARACT 10, MULTIPLE TYPES (OMIM:600881)
Gene: CRYBA1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 10, MULTIPLE TYPES (OMIM:600881)
Gene: CRYBA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 42 (OMIM:115900)
Gene: CRYBA2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 42 (OMIM:115900)
Gene: CRYBA2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CATARACT 42 (OMIM:115900)
Gene: CRYBA2
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACT 42 (OMIM:115900)
Gene: CRYBA2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 42 (OMIM:115900)
Gene: CRYBA2
Phenotype: Glaucoma (HP:0000501)
Associated disease: CATARACT 42 (OMIM:115900)
Gene: CRYBA2
Phenotype: Myopia (HP:0000545)
Associated disease: CATARACT 42 (OMIM:115900)
Gene: CRYBA4
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 23, MULTIPLE TYPES (OMIM:610425)
Gene: CRYBA4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBA4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBA4
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 23, MULTIPLE TYPES (OMIM:610425)
Gene: CRYBA4
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBA4
Phenotype: Lamellar cataract (HP:0007971)
Associated disease: CATARACT 23, MULTIPLE TYPES (OMIM:610425)
Gene: CRYBA4
Phenotype: Microcornea (HP:0000482)
Associated disease: CATARACT 23, MULTIPLE TYPES (OMIM:610425)
Gene: CRYBA4
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBA4
Phenotype: Cataract (HP:0000518)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBA4
Phenotype: Myopia (HP:0000545)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB1
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Pulverulent cataract (HP:0010693)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB1
Phenotype: Amblyopia (HP:0000646)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB1
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Gene: CRYBB1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)
Gene: CRYBB1
Phenotype: Microcornea (HP:0000482)
Associated disease: Cataract-microcornea syndrome (ORPHA:1377)