TaoMedAI/RareMedData huggingface dataset:
Gene: APC
Phenotype: Congenital hypertrophy of retinal pigment epithelium (HP:0007649)
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: High, narrow palate (HP:0002705)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: APC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: APC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GASTRIC CANCER (OMIM:613659)
Gene: APC
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: APC
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: APC
Phenotype: Malabsorption (HP:0002024)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH (OMIM:619182)
Gene: APC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Myalgia (HP:0003326)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Spastic gait (HP:0002064)
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: Adenocarcinoma of the colon (HP:0040276)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Duodenal polyposis (HP:0004783)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Duodenal polyposis (HP:0004783)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Duodenal polyposis (HP:0004783)
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: Crossed fused renal ectopia (HP:0004736)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Low posterior hairline (HP:0002162)
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: Adrenocortical adenoma (HP:0008256)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Adrenocortical adenoma (HP:0008256)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Keloids (HP:0010562)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Dyslexia (HP:0010522)
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: Astrocytoma (HP:0009592)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Astrocytoma (HP:0009592)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Middle age onset (HP:0003596)
Associated disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Gene: APC
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Melena (HP:0002249)
Associated disease: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH (OMIM:619182)
Gene: APC
Phenotype: Early balding (HP:0002234)
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: Chest pain (HP:0100749)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Fibroadenoma of the breast (HP:0010619)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Fibroma (HP:0010614)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Fibroma (HP:0010614)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Fibroma (HP:0010614)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Gene: APC
Phenotype: Epidermoid cyst (HP:0200040)
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: Epidermoid cyst (HP:0200040)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Short thumb (HP:0009778)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Abnormality of the abdominal wall (HP:0004298)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: APC
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Ectropion (HP:0000656)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Carious teeth (HP:0000670)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Hypodontia (HP:0000668)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Gene: APC
Phenotype: Colon cancer (HP:0003003)
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: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Colon cancer (HP:0003003)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: APC
Phenotype: Colon cancer (HP:0003003)
Associated disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Gene: APC
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Papilloma (HP:0012740)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Eruption failure (HP:0000706)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Young adult onset (HP:0011462)
Associated disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Gene: APC
Phenotype: Carcinoma (HP:0030731)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Short nose (HP:0003196)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Relative macrocephaly (HP:0004482)
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: Thyroid adenoma (HP:0000854)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Osteoma (HP:0100246)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Osteoma (HP:0100246)
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: Single transverse palmar crease (HP:0000954)
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: Hyperpigmentation of the skin (HP:0000953)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Synostosis of joints (HP:0100240)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Gastrointestinal desmoid tumor (HP:0100245)
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: Gastrointestinal desmoid tumor (HP:0100245)
Associated disease: DESMOID DISEASE, HEREDITARY (OMIM:135290)
Gene: APC
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Long face (HP:0000276)
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: Malar flattening (HP:0000272)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Optic disc hypoplasia (HP:0007766)
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: Arthralgia (HP:0002829)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Hepatoblastoma (HP:0002884)
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: Hepatoblastoma (HP:0002884)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: High palate (HP:0000218)
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: Thick upper lip vermilion (HP:0000215)
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: Neoplasm of the pancreas (HP:0002894)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: APC
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Abnormality of canine (HP:0011078)
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: Odontoma (HP:0011068)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Subacute progressive viral hepatitis (HP:0006572)
Associated disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Gene: APC
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Desmoid type fibromatosis; Desmoid tumor; Aggressive fibromatosis (ORPHA:873)
Gene: APC
Phenotype: Adenomatous colonic polyposis (HP:0005227)
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: Adenomatous colonic polyposis (HP:0005227)
Associated disease: AFAP; Attenuated familial polyposis coli; Attenuated familial adenomatous polyposis; Attenuated FAP (ORPHA:220460)
Gene: APC
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 1 (OMIM:175100)
Gene: APC
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: APC
Phenotype: Airway obstruction (HP:0006536)
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: Laryngomalacia (HP:0001601)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: APC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Long philtrum (HP:0000343)
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: High forehead (HP:0000348)
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: Micrognathia (HP:0000347)
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: Micromelia (HP:0002983)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Hypertelorism (HP:0000316)
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: Hypertelorism (HP:0000316)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)
Gene: APC
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Cenani-Lenz syndrome; Syndactyly type 7; Cenani-Lenz syndactyly; Cenani syndactyly (ORPHA:3258)