TaoMedAI/RareMedData huggingface dataset:
Gene: MRE11
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Drooling (HP:0002307)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Short stature (HP:0004322)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: MRE11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Childhood onset (HP:0011463)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Small posterior fossa (HP:0040010)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: MRE11
Phenotype: Melanoma (HP:0002861)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: MRE11
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: MRE11
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: MRE11
Phenotype: Pes cavus (HP:0001761)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: MRE11
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Ataxia-telangiectasia-like disorder; ATLD (ORPHA:251347)
Gene: MRE11
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 (OMIM:604391)
Gene: ABCC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 77 (OMIM:618915)
Gene: ABCC1
Phenotype: Adult onset (HP:0003581)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 77 (OMIM:618915)
Gene: ABCC1
Phenotype: Abnormal inner ear morphology (HP:0011390)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 77 (OMIM:618915)
Gene: ABCC1
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 77 (OMIM:618915)
Gene: ABCC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 77 (OMIM:618915)
Gene: MSH2
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 2 (OMIM:619096)
Gene: MSH2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 2 (OMIM:619096)
Gene: MSH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYNCH SYNDROME I (OMIM:120435)
Gene: MSH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 2 (OMIM:619096)
Gene: MSH2
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Laryngeal carcinoma (HP:0012118)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Constipation (HP:0002019)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Migraine (HP:0002076)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Middle age onset (HP:0003596)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Salivary gland neoplasm (HP:0100684)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Colon cancer (HP:0003003)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Colon cancer (HP:0003003)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 2 (OMIM:619096)
Gene: MSH2
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Colon cancer (HP:0003003)
Associated disease: LYNCH SYNDROME I (OMIM:120435)
Gene: MSH2
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH2
Phenotype: Colon cancer (HP:0003003)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Hallucinations (HP:0000738)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Irritability (HP:0000737)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Anxiety (HP:0000739)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Depression (HP:0000716)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Death in infancy (HP:0001522)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Fatigue (HP:0012378)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: T-cell acute lymphoblastic leukemias (HP:0006727)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 2 (OMIM:619096)
Gene: MSH2
Phenotype: Benign gastrointestinal tract tumors (HP:0006719)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Sebaceous gland carcinoma (HP:0030410)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH2
Phenotype: Benign genitourinary tract neoplasm (HP:0006778)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MSH2
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Weight loss (HP:0001824)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MSH3
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Ovarian dermoid cyst (HP:0025274)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MSH3
Phenotype: Gastric adenocarcinoma (HP:0033770)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Stomach cancer (HP:0012126)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MSH3
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ENDOMETRIAL CANCER (OMIM:608089)
Gene: MSH3
Phenotype: Renal cyst (HP:0000107)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Renal cyst (HP:0000107)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Breast intraductal papilloma (HP:6000102)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Juvenile gastrointestinal polyposis (HP:0004784)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Duodenal polyposis (HP:0004783)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Astrocytoma (HP:0009592)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Astrocytoma (HP:0009592)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Middle age onset (HP:0003596)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Anemia (HP:0001903)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Colon cancer (HP:0003003)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Colon cancer (HP:0003003)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH3
Phenotype: Colon cancer (HP:0003003)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Papilloma (HP:0012740)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Young adult onset (HP:0011462)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Gene: MSH3
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MSH3
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Gene: MSH3
Phenotype: Hypokalemia (HP:0002900)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH3
Phenotype: Duodenal adenocarcinoma (HP:0006771)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MSH4
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Ataxia (HP:0001251)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MSH4
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 20 (OMIM:619938)
Gene: MSH4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 2 (OMIM:108420)
Gene: MSH4
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)