TaoMedAI/RareMedData huggingface dataset:
Gene: CACNA1F
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Gene: CACNA1F
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Gene: CACNA1F
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Difficulty adjusting from light to dark (HP:0030513)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Giant melanosomes in melanocytes (HP:0005592)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Nystagmus (HP:0000639)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Nystagmus (HP:0000639)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Gene: CACNA1F
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Central scotoma (HP:0000603)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Abnormal amplitude of light-adapted flicker electroretinogram (HP:0030479)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Gene: CACNA1F
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: CACNA1F
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Protanopia (HP:0011522)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Gene: CACNA1F
Phenotype: Astigmatism (HP:0000483)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Astigmatism (HP:0000483)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Astigmatism (HP:0000483)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Visual impairment (HP:0000505)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Gene: CACNA1F
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Exotropia (HP:0000577)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A (OMIM:300071)
Gene: CACNA1F
Phenotype: Retinal detachment (HP:0000541)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Color vision defect (HP:0000551)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1F
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA1F
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA1F
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA1F
Phenotype: Myopia (HP:0000545)
Associated disease: Åland Islands eye disease; AIED; Forsius-Eriksson type ocular albinism; Forsius-Eriksson syndrome (ORPHA:178333)
Gene: CACNA1F
Phenotype: Myopia (HP:0000545)
Associated disease: ALAND ISLAND EYE DISEASE (OMIM:300600)
Gene: CACNA1F
Phenotype: Myopia (HP:0000545)
Associated disease: CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Gene: CACNA1S
Phenotype: Myotonia (HP:0002486)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Myotonia (HP:0002486)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Myotonia (HP:0002486)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Sporadic (HP:0003745)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Urinary retention (HP:0000016)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Muscle weakness (HP:0001324)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Tremor (HP:0001337)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 (OMIM:601887)
Gene: CACNA1S
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Necrotizing myopathy (HP:0008978)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Acute rhabdomyolysis (HP:0008942)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Tachypnea (HP:0002789)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Constipation (HP:0002019)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 (OMIM:601887)
Gene: CACNA1S
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Thyrotoxicosis with diffuse goiter (HP:0011784)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Thyrotoxicosis with toxic multinodular goiter (HP:0011785)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Thyrotoxicosis with toxic single thyroid nodule (HP:0011786)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Paralysis (HP:0003470)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Paralysis (HP:0003470)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Adrenocortical adenoma (HP:0008256)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Transient hypophosphatemia (HP:0008285)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Intermittent painful muscle spasms (HP:0011964)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Graves disease (HP:0100647)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Palpitations (HP:0001962)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Palpitations (HP:0001962)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Fever (HP:0001945)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Fever (HP:0001945)
Associated disease: MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 (OMIM:601887)
Gene: CACNA1S
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated disease: Hyperthermia of anesthesia; Malignant hyperthermia of anesthesia (ORPHA:423)
Gene: CACNA1S
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Episodic hypokalemia (HP:0012726)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: CACNA1S
Phenotype: Episodic hypokalemia (HP:0012726)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Myopathy (HP:0003198)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: CACNA1S
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Goiter (HP:0000853)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: CACNA1S
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 (OMIM:188580)
Gene: CACNA1S
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL MYOPATHY 18 (OMIM:620246)
Gene: CACNA1S
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)