TaoMedAI/RareMedData huggingface dataset:
Gene: ELOVL4
Phenotype: Strabismus (HP:0000486)
Associated disease: SCA34; Spinocerebellar ataxia type 34; Spinocerebellar ataxia and erythrokeratodermia; Erythrokeratodermia with ataxia (ORPHA:1955)
Gene: ELOVL4
Phenotype: Abnormal foveal morphology (HP:0000493)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Brain atrophy (HP:0012444)
Associated disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Gene: ELOVL4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Visual impairment (HP:0000505)
Associated disease: STARGARDT DISEASE 3 (OMIM:600110)
Gene: ELOVL4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: ELOVL4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ELOVL4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: STIM1
Phenotype: Increased circulating IgG3 level (HP:0032297)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Increased muscle fatiguability (HP:0003750)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Howell-Jolly bodies (HP:0032550)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Myalgia (HP:0003326)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Myalgia (HP:0003326)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Migraine (HP:0002076)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Dyslexia (HP:0010522)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Adult onset (HP:0003581)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Kaposi's sarcoma (HP:0100726)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Progressive (HP:0003676)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Miosis (HP:0000616)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Miosis (HP:0000616)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Anemia (HP:0001903)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Anemia (HP:0001903)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Difficulty running (HP:0009046)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Short stature (HP:0004322)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Short stature (HP:0004322)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Hematuria (HP:0000790)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Myopathy (HP:0003198)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Myopathy (HP:0003198)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Abnormal lymphocyte count (HP:0040088)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Joint contracture (HP:0034392)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STIM1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Purpura (HP:0000979)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: STIM1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: High forehead (HP:0000348)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Short philtrum (HP:0000322)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Prominent nose (HP:0000448)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Asplenia (HP:0001746)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Asplenia (HP:0001746)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Epistaxis (HP:0000421)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 10 (OMIM:612783)
Gene: STIM1
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Thrombocytopathy-asplenia-miosis syndrome; Stormorken-Sjaastad-Langslet syndrome; Stormorken syndrome (ORPHA:3204)
Gene: STIM1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: STIM1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STIM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: STORMORKEN SYNDROME (OMIM:185070)
Gene: STIM1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MYOPATHY, TUBULAR AGGREGATE, 1 (OMIM:160565)
Gene: STK4
Phenotype: Sepsis (HP:0100806)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)
Gene: STK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS (OMIM:614868)