TaoMedAI/RareMedData huggingface dataset:
Gene: CTNS
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Elevated leukocyte cystine (HP:0032639)
Associated disease: Adult-onset cystinosis; Non-nephropathic cystinosis; Ocular cystinosis (ORPHA:411641)
Gene: CTNS
Phenotype: Elevated leukocyte cystine (HP:0032639)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Elevated leukocyte cystine (HP:0032639)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Elevated leukocyte cystine (HP:0032639)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNS
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Growth abnormality (HP:0001507)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Growth delay (HP:0001510)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Growth delay (HP:0001510)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Growth delay (HP:0001510)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Oral motor hypotonia (HP:0030190)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Abnormality of thyroid physiology (HP:0002926)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Hyponatremia (HP:0002902)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Hypokalemia (HP:0002900)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNS
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Retinopathy (HP:0000488)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Retinopathy (HP:0000488)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Abnormal urine potassium concentration (HP:0012598)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Weight loss (HP:0001824)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Visual impairment (HP:0000505)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Adult-onset cystinosis; Non-nephropathic cystinosis; Ocular cystinosis (ORPHA:411641)
Gene: CTNS
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Corneal crystals (HP:0000531)
Associated disease: Adult-onset cystinosis; Non-nephropathic cystinosis; Ocular cystinosis (ORPHA:411641)
Gene: CTNS
Phenotype: Corneal crystals (HP:0000531)
Associated disease: CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Gene: CTNS
Phenotype: Corneal crystals (HP:0000531)
Associated disease: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
Gene: CTNS
Phenotype: Corneal crystals (HP:0000531)
Associated disease: Juvenile nephropathic cystinosis; Intermediate cystinosis; Juvenile cystinosis (ORPHA:411634)
Gene: CTNS
Phenotype: Corneal crystals (HP:0000531)
Associated disease: Infantile nephropathic cystinosis (ORPHA:411629)
Gene: CTNS
Phenotype: Corneal crystals (HP:0000531)
Associated disease: CYSTINOSIS, ADULT NONNEPHROPATHIC (OMIM:219750)
Gene: CTNNB1
Phenotype: Increased serum estradiol (HP:0025134)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Poor speech (HP:0002465)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Sudden loss of visual acuity (HP:0001117)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Abnormal nasal bone morphology (HP:0010939)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Anti-myeloperoxidase antibody positivity (HP:0033559)
Associated disease: Pilomatrixoma; Epithelioma calcificans of Malherbe; Pilomatricoma (ORPHA:91414)
Gene: CTNNB1
Phenotype: Panic attack (HP:0025269)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Sepsis (HP:0100806)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Motor delay (HP:0001270)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Seizure (HP:0001250)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Seizure (HP:0001250)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Polyphagia (HP:0002591)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Spasticity (HP:0001257)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Coma (HP:0001259)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: CTNNB1
Phenotype: High iliac wing (HP:0008808)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Abnormality of reproductive system physiology (HP:0000080)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Increased urinary cortisol level (HP:0012030)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Large iliac wing (HP:0008818)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: CTNNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CTNNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXUDATIVE VITREORETINOPATHY 7 (OMIM:617572)
Gene: CTNNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: CTNNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: CTNNB1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Hepatic necrosis (HP:0002605)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Pilomatrixoma; Epithelioma calcificans of Malherbe; Pilomatricoma (ORPHA:91414)
Gene: CTNNB1
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: CTNNB1
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CTNNB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CTNNB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: CTNNB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: CTNNB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PILOMATRIXOMA (OMIM:132600)
Gene: CTNNB1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CTNNB1
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: CTNNB1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Myalgia (HP:0003326)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: CTNNB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Vomiting (HP:0002013)
Associated disease: Pediatric HCC; Childhood-onset hepatocellular carcinoma; Pediatric hepatocellular carcinoma; Childhood-onset HCC (ORPHA:33402)
Gene: CTNNB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: CTNNB1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: CTNNB1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Adrenocorticotropic hormone deficiency (HP:0011748)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Craniopharyngioma (ORPHA:54595)
Gene: CTNNB1
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS (OMIM:615075)
Gene: CTNNB1
Phenotype: Tethered cord (HP:0002144)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)
Gene: CTNNB1
Phenotype: Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)
Associated disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Gene: CTNNB1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Severe intellectual disability-progressive spastic diplegia syndrome; CTNNB1 syndrome (ORPHA:404473)