TaoMedAI/RareMedData huggingface dataset:
Gene: CASR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Hypotension (HP:0002615)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Laryngospasm (HP:0025425)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Tachypnea (HP:0002789)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Constipation (HP:0002019)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Dyspnea (HP:0002094)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Muscle spasm (HP:0003394)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: EMG abnormality (HP:0003457)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Primary hyperparathyroidism (HP:0008200)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Paresthesia (HP:0003401)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Paresthesia (HP:0003401)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Writer's cramp (HP:0002356)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Hypermagnesiuria (HP:0012608)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Polydipsia (HP:0001959)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Anemia (HP:0001903)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Short stature (HP:0004322)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Anxiety (HP:0000739)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Depression (HP:0000716)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Emotional lability (HP:0000712)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Narrow chest (HP:0000774)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Narrow chest (HP:0000774)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Dry skin (HP:0000958)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Cortical myoclonus (HP:0040148)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Alopecia (HP:0001596)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hypermagnesemia (HP:0002918)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Pancreatitis (HP:0001733)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Gene: CASR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Splanchnic vein thrombosis (HP:0030247)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: CASR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACATALASEMIA (OMIM:614097)
Gene: CAT
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Severe periodontitis (HP:0000166)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Oral ulcer (HP:0000155)
Associated disease: ACATALASEMIA (OMIM:614097)
Gene: CAT
Phenotype: Premature loss of permanent teeth (HP:0006357)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Gangrene (HP:0100758)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Vitiligo (HP:0001045)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Neoplasm of the larynx (HP:0100605)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Old-aged sensorineural hearing impairment (HP:0040113)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Gingivitis (HP:0000230)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Pain (HP:0012531)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Reduced circulating catalase activity (HP:0012517)
Associated disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Gene: CAT
Phenotype: Reduced circulating catalase activity (HP:0012517)
Associated disease: ACATALASEMIA (OMIM:614097)
Gene: CAV1
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Sunken cheeks (HP:0009938)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)