TaoMedAI/RareMedData huggingface dataset:
Gene: ATIC
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Anteverted nares (HP:0000463)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Prominent forehead (HP:0011220)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATIC
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ATIC deficiency; AICA-ribosiduria due to ATIC deficiency; 5-amino-4-imidazole carboxamide ribosiduria; AICA-ribosiduria; AICAR transformylase/IMP cyclohydrolase deficiency (ORPHA:250977)
Gene: ATIC
Phenotype: Esotropia (HP:0000565)
Associated disease: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY (OMIM:608688)
Gene: ATM
Phenotype: Visual field defect (HP:0001123)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Hypertonia (HP:0001276)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Seizure (HP:0001250)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Seizure (HP:0001250)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Seizure (HP:0001250)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Hypotonia (HP:0001252)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Ataxia (HP:0001251)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Dysarthria (HP:0001260)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Dysarthria (HP:0001260)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Spasticity (HP:0001257)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Inability to walk (HP:0002540)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Slurred speech (HP:0001350)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Neoplasm (HP:0002664)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Dystonia (HP:0001332)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Lymphoma (HP:0002665)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Tremor (HP:0001337)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Tremor (HP:0001337)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: ATM
Phenotype: Myoclonus (HP:0001336)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Glioblastoma multiforme (HP:0012174)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Stomach cancer (HP:0012126)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: ATM
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Malabsorption (HP:0002024)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Constipation (HP:0002019)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Abdominal pain (HP:0002027)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Intention tremor (HP:0002080)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Migraine (HP:0002076)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Anorexia (HP:0002039)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Cardiac diverticulum (HP:0100571)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Dysgraphia (HP:0010526)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Aplasia/Hypoplasia of the thymus (HP:0010515)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Paresthesia (HP:0003401)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Neoplasm of the skeletal system (HP:0010622)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Developmental regression (HP:0002376)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Memory impairment (HP:0002354)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Dyskinesia (HP:0100660)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Urinary tract neoplasm (HP:0010786)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Uterine neoplasm (HP:0010784)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Nystagmus (HP:0000639)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Nystagmus (HP:0000639)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Fever (HP:0001945)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Leukemia (HP:0001909)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Short stature (HP:0004322)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Short stature (HP:0004322)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: ATM
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Hallucinations (HP:0000738)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Irritability (HP:0000737)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Anxiety (HP:0000739)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Depression (HP:0000716)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Childhood onset (HP:0011463)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Microcephaly (HP:0000252)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Sinusitis (HP:0000246)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Fatigue (HP:0012378)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Fatigue (HP:0012378)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Defective B cell differentiation (HP:0005357)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Strabismus (HP:0000486)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Strabismus (HP:0000486)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Weight loss (HP:0001824)
Associated disease: MCL; Mantle zone lymphoma; Mantle cell lymphoma; LCM (ORPHA:52416)
Gene: ATM
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: ATM
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: ATM
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Ataxia-telangiectasia; Louis-Bar syndrome (ORPHA:100)
Gene: ATM
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: ATAXIA-TELANGIECTASIA (OMIM:208900)
Gene: RERE
Phenotype: Brachydactyly (HP:0001156)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Syndactyly (HP:0001159)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Poor speech (HP:0002465)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Ocular albinism (HP:0001107)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: CNS demyelination (HP:0007305)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Anterior creases of earlobe (HP:0009908)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Simple ear (HP:0020206)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Microtia (HP:0008551)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Gait disturbance (HP:0001288)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Seizure (HP:0001250)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Seizure (HP:0001250)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Hypotonia (HP:0001252)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Hypotonia (HP:0001252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Polyphagia (HP:0002591)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Gene: RERE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Gene: RERE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: RERE
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)