TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A4
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Cataract (HP:0000518)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: ANXA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 (OMIM:614391)
Gene: ANXA5
Phenotype: Recurrent spontaneous abortion (HP:0200067)
Associated disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 (OMIM:614391)
Gene: ANXA5
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 (OMIM:614391)
Gene: ANXA11
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Areflexia (HP:0001284)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Dysarthria (HP:0001260)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Gene: ANXA11
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Gene: ANXA11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Gene: ANXA11
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Babinski sign (HP:0003487)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Low back pain (HP:0003419)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Middle age onset (HP:0003596)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Gene: ANXA11
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Gene: ANXA11
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Fasciculations (HP:0002380)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Gene: ANXA11
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Scapular winging (HP:0003691)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Drooling (HP:0002307)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Dementia (HP:0000726)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 23 (OMIM:617839)
Gene: ANXA11
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Late young adult onset (HP:0025710)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANXA11
Phenotype: Ptosis (HP:0000508)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619733)
Gene: ANXA11
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NUDT2
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Poor suck (HP:0002033)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Frequent falls (HP:0002359)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: NUDT2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Gene: APC
Phenotype: Posterior polar cataract (HP:0001115)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Sepsis (HP:0100806)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Intestinal bleeding (HP:0002584)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Rectal polyposis (HP:0100896)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Gastrointestinal carcinoma (HP:0002672)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: APC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Gene: APC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: APC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH (OMIM:619182)
Gene: APC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Fundic gland polyposis (HP:0033769)
Associated disease: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH (OMIM:619182)
Gene: APC
Phenotype: Gastric adenocarcinoma (HP:0033770)
Associated disease: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH (OMIM:619182)
Gene: APC
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Familial polyposis coli due to monosomy 5q22.2; Familial adenomatous polyposis due to del(5)(q22.2); Colorectal adenomatous polyposis due to monosomy 5q22.2; Familial adenomatous polyposis due to 5q22.2 microdeletion; Familial adenomatous polyposis due to monosomy 5q22.2; FAP due to monosomy 5q22.2 (ORPHA:261584)
Gene: APC
Phenotype: Stomach cancer (HP:0012126)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: APC
Phenotype: Osteolysis (HP:0002797)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Increased level of L-fucose in urine (HP:0410067)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: APC
Phenotype: Congenital hypertrophy of retinal pigment epithelium (HP:0007649)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Congenital hypertrophy of retinal pigment epithelium (HP:0007649)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)