TaoMedAI/RareMedData huggingface dataset:
Gene: RYR2
Phenotype: Young adult onset (HP:0011462)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RYR2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RYR2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RYR2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RYR2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RYR2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: RYR2
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: RYR2
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: RYR3
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Echogenic intracardiac focus (HP:0010942)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Gowers sign (HP:0003391)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Toe joint contracture (HP:0034675)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Scapular winging (HP:0003691)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Frequent falls (HP:0002359)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Difficulty running (HP:0009046)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Elbow contracture (HP:0034391)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Short finger (HP:0009381)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Narrow face (HP:0000275)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Congenital contracture (HP:0002803)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Broad forehead (HP:0000337)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: RYR3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CONGENITAL MYOPATHY 20 (OMIM:620310)
Gene: SAA1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Hypotension (HP:0002615)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Nausea (HP:0002018)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Vomiting (HP:0002013)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Decreased QRS voltage (HP:0025077)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Goiter (HP:0000853)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Cardiac amyloidosis (HP:0030843)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Jaw claudication (HP:0030164)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Inflammatory amyloidosis; Reactive amyloidosis; AA amyloidosis (ORPHA:85445)
Gene: SAG
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 96 (OMIM:620228)
Gene: SAG
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Visual field defect (HP:0001123)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OGUCHI DISEASE 1 (OMIM:258100)
Gene: SAG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Gene: SAG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 96 (OMIM:620228)
Gene: SAG
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 96 (OMIM:620228)
Gene: SAG
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: OGUCHI DISEASE 1 (OMIM:258100)
Gene: SAG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Diplopia (HP:0000651)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Gene: SAG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Gene: SAG
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Mizuo phenomenon (HP:0030824)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Mizuo phenomenon (HP:0030824)
Associated disease: OGUCHI DISEASE 1 (OMIM:258100)
Gene: SAG
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 96 (OMIM:620228)
Gene: SAG
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Retinal thinning (HP:0030329)
Associated disease: RETINITIS PIGMENTOSA 96 (OMIM:620228)
Gene: SAG
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Gene: SAG
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 96 (OMIM:620228)
Gene: SAG
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Visual impairment (HP:0000505)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Gene: SAG
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Gene: SAG
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: SAG
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: RETINITIS PIGMENTOSA 47 (OMIM:613758)
Gene: SAG
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: SAG
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SAG
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SAG
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)