TaoMedAI/RareMedData huggingface dataset:
Gene: SH2D1A
Phenotype: Recurrent fever (HP:0001954)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Burkitt lymphoma (HP:0030080)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Dysgammaglobulinemia (HP:0002961)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Severe Epstein Barr virus infection (HP:0031693)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Pancytopenia (HP:0001876)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: SH2D1A
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (OMIM:308240)
Gene: LYZ
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Proteinuria (HP:0000093)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Conjunctival amyloidosis (HP:0010637)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Anemia (HP:0001903)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Hypertension (HP:0000822)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Petechiae (HP:0000967)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Hepatic amyloidosis (HP:0012280)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Amyloidosis (HP:0011034)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: LYZ
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Gene: TACSTD2
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: TACSTD2
Phenotype: Epiphora (HP:0009926)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: TACSTD2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: TACSTD2
Phenotype: Conjunctival amyloidosis (HP:0010637)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Corneal foreign body sensation (HP:0034804)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: TACSTD2
Phenotype: Corneal foreign body sensation (HP:0034804)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Ocular pain (HP:0200026)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Photophobia (HP:0000613)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: TACSTD2
Phenotype: Blurred vision (HP:0000622)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: TACSTD2
Phenotype: Blurred vision (HP:0000622)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: TACSTD2
Phenotype: Subepithelial corneal opacities (HP:0008039)
Associated disease: Gelatinous drop-like corneal dystrophy; Subepithelial amyloidosis of the cornea; GDCD; Primary familial amyloidosis of the cornea (ORPHA:98957)
Gene: TACSTD2
Phenotype: Visual impairment (HP:0000505)
Associated disease: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE (OMIM:204870)
Gene: EPCAM
Phenotype: Abnormal small intestinal mucosa morphology (HP:0025129)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Arthritis (HP:0001369)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Arthritis (HP:0001369)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Elevated fecal osmolality (HP:0032486)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: EPCAM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Anal atresia (HP:0002023)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Malabsorption (HP:0002024)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Malabsorption (HP:0002024)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Constipation (HP:0002019)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Vomiting (HP:0002013)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Migraine (HP:0002076)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Punctate keratitis (HP:0011859)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Crypt hyperplasia (HP:0034588)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Paresthesia (HP:0003401)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Middle age onset (HP:0003596)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Late onset (HP:0003584)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Memory impairment (HP:0002354)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Abnormal large intestinal mucosa morphology (HP:0025090)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Photophobia (HP:0000613)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Dehydration (HP:0001944)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: EPCAM
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Colon cancer (HP:0003003)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Irritability (HP:0000737)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Villous atrophy (HP:0011473)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Villous atrophy (HP:0011473)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Small for gestational age (HP:0001518)
Associated disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (OMIM:613217)
Gene: EPCAM
Phenotype: Fatigue (HP:0012378)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: EPCAM
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Late young adult onset (HP:0025710)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 (OMIM:613244)
Gene: EPCAM
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: EPCAM
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Cataract (HP:0000518)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Weight loss (HP:0001824)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: EPCAM
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: EPCAM
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Intestinal epithelial dysplasia; Non-syndromic congenital tufting enteropathy; Congenital tufting enteropathy; IED (ORPHA:92050)
Gene: CAPRIN1
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Gene: CAPRIN1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Gene: CAPRIN1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)