TaoMedAI/RareMedData huggingface dataset:
Gene: CAV1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Arthritis (HP:0001369)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Dysmetria (HP:0001310)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Polyuria (HP:0000103)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Decreased adipose tissue around neck (HP:0005995)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Diarrhea (HP:0002014)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Dysphagia (HP:0002015)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Vomiting (HP:0002013)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Oliguria (HP:0100520)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Babinski sign (HP:0003487)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Clonus (HP:0002169)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Middle age onset (HP:0003596)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Congenital onset (HP:0003577)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Late onset (HP:0003584)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Hirsutism (HP:0001007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Facial wrinkling (HP:0009762)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Short stature (HP:0004322)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Childhood onset (HP:0011463)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Young adult onset (HP:0011462)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Short nose (HP:0003196)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Dry skin (HP:0000958)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Thin skin (HP:0000963)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Sparse hair (HP:0008070)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Xerostomia (HP:0000217)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Tinnitus (HP:0000360)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Low-set ears (HP:0000369)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Abnormal bowel sounds (HP:0030142)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Triangular face (HP:0000325)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CAV1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CAV1
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Lack of facial subcutaneous fat (HP:0005320)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Increased pulmonary vascular resistance (HP:0005317)
Associated disease: PULMONARY HYPERTENSION, PRIMARY, 3 (OMIM:615343)
Gene: CAV1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Gene: CAV1
Phenotype: Cataract (HP:0000518)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7 (OMIM:606721)
Gene: CAV3
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Increased muscle fatiguability (HP:0003750)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Percussion-induced rapid rolling muscle contractions (HP:0003760)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Percussion-induced rapid rolling muscle contractions (HP:0003760)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Muscle mounding (HP:0003719)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Areflexia (HP:0001284)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: CAV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CAV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Exercise-induced muscle stiffness (HP:0008967)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Myalgia (HP:0003326)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Myalgia (HP:0003326)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Gowers sign (HP:0003391)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Muscle hyperirritability (HP:0003559)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)